Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

..Starting node
..Abnormal homeostasis (HP:0012337)

Term ID:

12337

Name:

Abnormal homeostasis

Synonym:

Definition:

An anomaly in the processes involved in the maintenance of an internal equilibrium.

Comments:

Reference:

HP:0012337

Genes and Diseases:

Child Nodes:

........

Abnormal energy expenditure (HP:0012338)

................... HP:0012339 Increased resting energy expenditure
................... HP:0012340 Decreased resting energy expenditure

Sister Nodes:

Abnormal blood ion concentration (HP:0003111)

Abnormal calcium-phosphate regulating hormone level (HP:0100530)

Abnormal cellular physiology (HP:0011017)

Abnormal circulating carbohydrate concentration (HP:0011013)

Abnormal circulating carboxylic acid concentration (HP:0004354)

Abnormal circulating lipid concentration (HP:0003119)

Abnormal circulating nitrogen compound concentration (HP:0004364)

Abnormal circulating nucleobase concentration (HP:0010932)

Abnormal circulating porphyrin concentration (HP:0010472)

Abnormal circulating protein concentration (HP:0010876)

Abnormal circulating selenium concentration (HP:0031903)

Abnormal enzyme/coenzyme activity (HP:0012379)

Abnormal erythrocyte sedimentation rate (HP:0025021)

Abnormal sweat homeostasis (HP:0040127)

Abnormality of acid-base homeostasis (HP:0004360)

Abnormality of fluid regulation (HP:0011032)

Abnormality of Krebs cycle metabolism (HP:0000816)

Abnormality of superoxide metabolism (HP:0004358)

Abnormality of temperature regulation (HP:0004370)

Abnormality of urine homeostasis (HP:0003110)

Abnormality of vitamin metabolism (HP:0100508)

Amyloidosis (HP:0011034)

Bloodstream infectious agent (HP:0031863)

Food intolerance (HP:0012537)

Gangrene (HP:0100758)

Hyperbilirubinemia (HP:0002904)

Increased level of propylene glycol in blood (HP:0410069)

Ketosis (HP:0001946)

Molybdenum cofactor deficiency (HP:0003570)

obsolete Abnormality of glycoprotein metabolism (HP:0004367)

Presence of xenobiotic (HP:0031838)

Reduced 5-oxoprolinase level (HP:0040142)

Reduced acetaldehyde dehydrogenase level (HP:0003533)

Reduced glutathione synthetase level (HP:0003343)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012337	HP:0012337	Abnormal homeostasis	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria			91
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0012337	HP:0012337	Abnormal homeostasis	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGRP CL E G H	181	330	OMIM:601665	OBESITY			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0012337	HP:0012337	Abnormal homeostasis	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1			260
HP:0012337	HP:0012337	Abnormal homeostasis	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0012337	HP:0012337	Abnormal homeostasis	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0012337	HP:0012337	Abnormal homeostasis	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0012337	HP:0012337	Abnormal homeostasis	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0012337	HP:0012337	Abnormal homeostasis	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0012337	HP:0012337	Abnormal homeostasis	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0012337	HP:0012337	Abnormal homeostasis	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition			164
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0012337	HP:0012337	Abnormal homeostasis	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	APPL1 CL E G H	26060	24035	OMIM:616511	Maturity-onset diabetes of the young, type 14			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease			125
HP:0012337	HP:0012337	Abnormal homeostasis	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome			125
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0012337	HP:0012337	Abnormal homeostasis	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0012337	HP:0012337	Abnormal homeostasis	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012337	HP:0012337	Abnormal homeostasis	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0012337	HP:0012337	Abnormal homeostasis	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY			80
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0012337	HP:0012337	Abnormal homeostasis	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0012337	HP:0012337	Abnormal homeostasis	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0012337	HP:0012337	Abnormal homeostasis	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0012337	HP:0012337	Abnormal homeostasis	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0012337	HP:0012337	Abnormal homeostasis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012337	HP:0012337	Abnormal homeostasis	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0012337	HP:0012337	Abnormal homeostasis	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0012337	HP:0012337	Abnormal homeostasis	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0012337	HP:0012337	Abnormal homeostasis	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0012337	HP:0012337	Abnormal homeostasis	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0012337	Abnormal homeostasis	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0012337	HP:0012337	Abnormal homeostasis	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0012337	HP:0012337	Abnormal homeostasis	0	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0012337	HP:0012337	Abnormal homeostasis	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0012337	HP:0012337	Abnormal homeostasis	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0012337	HP:0012337	Abnormal homeostasis	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			385
HP:0012337	HP:0012337	Abnormal homeostasis	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0012337	HP:0012337	Abnormal homeostasis	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0012337	HP:0012337	Abnormal homeostasis	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012337	HP:0012337	Abnormal homeostasis	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0012337	HP:0012337	Abnormal homeostasis	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0012337	HP:0012337	Abnormal homeostasis	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0012337	HP:0012337	Abnormal homeostasis	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0012337	HP:0012337	Abnormal homeostasis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0012337	HP:0012337	Abnormal homeostasis	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0012337	HP:0012337	Abnormal homeostasis	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012337	HP:0012337	Abnormal homeostasis	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0012337	HP:0012337	Abnormal homeostasis	0	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5			247
HP:0012337	HP:0012337	Abnormal homeostasis	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012337	HP:0012337	Abnormal homeostasis	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0012337	HP:0012337	Abnormal homeostasis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0012337	HP:0012337	Abnormal homeostasis	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0012337	HP:0012337	Abnormal homeostasis	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT			16
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0012337	Abnormal homeostasis	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma			1371
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1			1371
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0012337	HP:0012337	Abnormal homeostasis	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0012337	HP:0012337	Abnormal homeostasis	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0012337	HP:0012337	Abnormal homeostasis	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0012337	HP:0012337	Abnormal homeostasis	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0012337	HP:0012337	Abnormal homeostasis	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0012337	HP:0012337	Abnormal homeostasis	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0012337	HP:0012337	Abnormal homeostasis	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0012337	HP:0012337	Abnormal homeostasis	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0012337	HP:0012337	Abnormal homeostasis	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0012337	HP:0012337	Abnormal homeostasis	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0012337	HP:0012337	Abnormal homeostasis	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0012337	HP:0012337	Abnormal homeostasis	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPN1 CL E G H	1369	2312	OMIM:212070	Carboxypeptidase N deficiency			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0012337	HP:0012337	Abnormal homeostasis	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0012337	HP:0012337	Abnormal homeostasis	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0012337	HP:0012337	Abnormal homeostasis	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0012337	HP:0012337	Abnormal homeostasis	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0012337	HP:0012337	Abnormal homeostasis	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0012337	HP:0012337	Abnormal homeostasis	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0012337	HP:0012337	Abnormal homeostasis	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0012337	HP:0012337	Abnormal homeostasis	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0012337	Abnormal homeostasis	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0012337	Abnormal homeostasis	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0012337	HP:0012337	Abnormal homeostasis	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012337	HP:0012337	Abnormal homeostasis	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0012337	HP:0012337	Abnormal homeostasis	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0012337	HP:0012337	Abnormal homeostasis	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0012337	HP:0012337	Abnormal homeostasis	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0012337	HP:0012337	Abnormal homeostasis	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012337	HP:0012337	Abnormal homeostasis	0	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0012337	HP:0012337	Abnormal homeostasis	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0012337	HP:0012337	Abnormal homeostasis	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0012337	HP:0012337	Abnormal homeostasis	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012337	HP:0012337	Abnormal homeostasis	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0012337	HP:0012337	Abnormal homeostasis	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0012337	HP:0012337	Abnormal homeostasis	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0012337	HP:0012337	Abnormal homeostasis	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0012337	HP:0012337	Abnormal homeostasis	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0012337	HP:0012337	Abnormal homeostasis	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0012337	HP:0012337	Abnormal homeostasis	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0012337	HP:0012337	Abnormal homeostasis	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0012337	HP:0012337	Abnormal homeostasis	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0012337	HP:0012337	Abnormal homeostasis	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0012337	HP:0012337	Abnormal homeostasis	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0012337	HP:0012337	Abnormal homeostasis	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia			79
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0012337	HP:0012337	Abnormal homeostasis	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0012337	HP:0012337	Abnormal homeostasis	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			186
HP:0012337	HP:0012337	Abnormal homeostasis	0	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent			151
HP:0012337	HP:0012337	Abnormal homeostasis	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0012337	HP:0012337	Abnormal homeostasis	0	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY			151
HP:0012337	HP:0012337	Abnormal homeostasis	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0012337	HP:0012337	Abnormal homeostasis	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0012337	HP:0012337	Abnormal homeostasis	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0012337	HP:0012337	Abnormal homeostasis	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0012337	HP:0012337	Abnormal homeostasis	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0012337	HP:0012337	Abnormal homeostasis	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0012337	HP:0012337	Abnormal homeostasis	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0012337	HP:0012337	Abnormal homeostasis	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0012337	Abnormal homeostasis	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0012337	HP:0012337	Abnormal homeostasis	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012337	HP:0012337	Abnormal homeostasis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0012337	HP:0012337	Abnormal homeostasis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0012337	HP:0012337	Abnormal homeostasis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012337	HP:0012337	Abnormal homeostasis	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0012337	HP:0012337	Abnormal homeostasis	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0012337	HP:0012337	Abnormal homeostasis	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0012337	HP:0012337	Abnormal homeostasis	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0012337	HP:0012337	Abnormal homeostasis	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0012337	HP:0012337	Abnormal homeostasis	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0012337	HP:0012337	Abnormal homeostasis	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0012337	HP:0012337	Abnormal homeostasis	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0012337	HP:0012337	Abnormal homeostasis	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0012337	HP:0012337	Abnormal homeostasis	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0012337	HP:0012337	Abnormal homeostasis	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0012337	HP:0012337	Abnormal homeostasis	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0012337	HP:0012337	Abnormal homeostasis	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0012337	HP:0012337	Abnormal homeostasis	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0012337	HP:0012337	Abnormal homeostasis	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0012337	HP:0012337	Abnormal homeostasis	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0012337	HP:0012337	Abnormal homeostasis	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0012337	HP:0012337	Abnormal homeostasis	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0012337	HP:0012337	Abnormal homeostasis	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0012337	HP:0012337	Abnormal homeostasis	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0012337	HP:0012337	Abnormal homeostasis	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0012337	HP:0012337	Abnormal homeostasis	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0012337	HP:0012337	Abnormal homeostasis	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0012337	HP:0012337	Abnormal homeostasis	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia			137
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0012337	HP:0012337	Abnormal homeostasis	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0012337	HP:0012337	Abnormal homeostasis	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0012337	HP:0012337	Abnormal homeostasis	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent			237
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCK CL E G H	2645	4195	OMIM:125851	Maturity-onset diabetes of the young, type II			237
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0012337	Abnormal homeostasis	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012337	HP:0012337	Abnormal homeostasis	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0012337	HP:0012337	Abnormal homeostasis	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012337	HP:0012337	Abnormal homeostasis	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012337	HP:0012337	Abnormal homeostasis	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012337	HP:0012337	Abnormal homeostasis	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0012337	HP:0012337	Abnormal homeostasis	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0012337	HP:0012337	Abnormal homeostasis	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0012337	HP:0012337	Abnormal homeostasis	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3			80
HP:0012337	HP:0012337	Abnormal homeostasis	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0012337	HP:0012337	Abnormal homeostasis	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver			100
HP:0012337	HP:0012337	Abnormal homeostasis	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0012337	HP:0012337	Abnormal homeostasis	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0012337	HP:0012337	Abnormal homeostasis	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0012337	HP:0012337	Abnormal homeostasis	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0012337	HP:0012337	Abnormal homeostasis	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0012337	HP:0012337	Abnormal homeostasis	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0012337	HP:0012337	Abnormal homeostasis	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0012337	HP:0012337	Abnormal homeostasis	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0012337	HP:0012337	Abnormal homeostasis	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012337	HP:0012337	Abnormal homeostasis	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012337	HP:0012337	Abnormal homeostasis	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0012337	HP:0012337	Abnormal homeostasis	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0012337	HP:0012337	Abnormal homeostasis	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	HMGCS2 CL E G H	3158	5008	ORPHA:35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1A CL E G H	6927	11621	OMIM:612520	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF4A CL E G H	3172	5024	OMIM:125850	Maturity-onset diabetes of the young, type 1			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA			23
HP:0012337	HP:0012337	Abnormal homeostasis	0	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0012337	HP:0012337	Abnormal homeostasis	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012337	HP:0012337	Abnormal homeostasis	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012337	HP:0012337	Abnormal homeostasis	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0012337	HP:0012337	Abnormal homeostasis	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0012337	HP:0012337	Abnormal homeostasis	0	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0012337	Abnormal homeostasis	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0012337	Abnormal homeostasis	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0012337	HP:0012337	Abnormal homeostasis	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012337	HP:0012337	Abnormal homeostasis	0	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0012337	Abnormal homeostasis	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0012337	HP:0012337	Abnormal homeostasis	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0012337	HP:0012337	Abnormal homeostasis	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL2RA CL E G H	3559	6008	OMIM:601942	Diabetes mellitus, insulin-dependent, 10			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0012337	HP:0012337	Abnormal homeostasis	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0012337	HP:0012337	Abnormal homeostasis	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0012337	HP:0012337	Abnormal homeostasis	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	INS CL E G H	3630	6081	OMIM:125852	Diabetes mellitus, insulin-dependent, 2			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0012337	HP:0012337	Abnormal homeostasis	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5			229
HP:0012337	HP:0012337	Abnormal homeostasis	0	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency			229
HP:0012337	HP:0012337	Abnormal homeostasis	0	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0012337	HP:0012337	Abnormal homeostasis	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012337	HP:0012337	Abnormal homeostasis	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0012337	Abnormal homeostasis	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0012337	Abnormal homeostasis	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0012337	HP:0012337	Abnormal homeostasis	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012337	HP:0012337	Abnormal homeostasis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	IRF8 CL E G H	3394	5358	ORPHA:319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0012337	HP:0012337	Abnormal homeostasis	0	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0012337	HP:0012337	Abnormal homeostasis	0	IVD CL E G H	3712	6186	ORPHA:33	Isovaleric acidemia			105
HP:0012337	HP:0012337	Abnormal homeostasis	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0012337	HP:0012337	Abnormal homeostasis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012337	HP:0012337	Abnormal homeostasis	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0012337	HP:0012337	Abnormal homeostasis	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012337	HP:0012337	Abnormal homeostasis	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012337	HP:0012337	Abnormal homeostasis	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III			128
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy			528
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous			327
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0012337	HP:0012337	Abnormal homeostasis	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLF11 CL E G H	8462	11811	OMIM:610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7			78
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID			118
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0012337	HP:0012337	Abnormal homeostasis	0	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0012337	HP:0012337	Abnormal homeostasis	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0012337	HP:0012337	Abnormal homeostasis	0	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0012337	HP:0012337	Abnormal homeostasis	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0012337	HP:0012337	Abnormal homeostasis	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0012337	HP:0012337	Abnormal homeostasis	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0012337	HP:0012337	Abnormal homeostasis	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0012337	HP:0012337	Abnormal homeostasis	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0012337	HP:0012337	Abnormal homeostasis	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0012337	HP:0012337	Abnormal homeostasis	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0012337	HP:0012337	Abnormal homeostasis	0	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital			72
HP:0012337	HP:0012337	Abnormal homeostasis	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012337	HP:0012337	Abnormal homeostasis	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0012337	HP:0012337	Abnormal homeostasis	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent			95
HP:0012337	HP:0012337	Abnormal homeostasis	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0012337	HP:0012337	Abnormal homeostasis	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012337	HP:0012337	Abnormal homeostasis	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0012337	HP:0012337	Abnormal homeostasis	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0012337	HP:0012337	Abnormal homeostasis	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012337	HP:0012337	Abnormal homeostasis	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0012337	HP:0012337	Abnormal homeostasis	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0012337	HP:0012337	Abnormal homeostasis	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0012337	HP:0012337	Abnormal homeostasis	0	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			77
HP:0012337	HP:0012337	Abnormal homeostasis	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012337	HP:0012337	Abnormal homeostasis	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0012337	HP:0012337	Abnormal homeostasis	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0012337	HP:0012337	Abnormal homeostasis	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis			281
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0012337	HP:0012337	Abnormal homeostasis	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0012337	HP:0012337	Abnormal homeostasis	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0012337	HP:0012337	Abnormal homeostasis	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012337	HP:0012337	Abnormal homeostasis	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0012337	Abnormal homeostasis	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0012337	HP:0012337	Abnormal homeostasis	0	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome			69
HP:0012337	HP:0012337	Abnormal homeostasis	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0012337	HP:0012337	Abnormal homeostasis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0012337	HP:0012337	Abnormal homeostasis	0	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			97
HP:0012337	HP:0012337	Abnormal homeostasis	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0012337	HP:0012337	Abnormal homeostasis	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012337	HP:0012337	Abnormal homeostasis	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0012337	HP:0012337	Abnormal homeostasis	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0012337	HP:0012337	Abnormal homeostasis	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0012337	HP:0012337	Abnormal homeostasis	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0012337	HP:0012337	Abnormal homeostasis	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYD88 CL E G H	4615	7562	ORPHA:183713	Bacterial susceptibility due to TLR signaling pathway deficiency			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy			192
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease			192
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0012337	HP:0012337	Abnormal homeostasis	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0012337	HP:0012337	Abnormal homeostasis	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0012337	Abnormal homeostasis	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0012337	HP:0012337	Abnormal homeostasis	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0012337	HP:0012337	Abnormal homeostasis	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0012337	Abnormal homeostasis	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24			16
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0012337	HP:0012337	Abnormal homeostasis	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEUROD1 CL E G H	4760	7762	OMIM:606394	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0012337	HP:0012337	Abnormal homeostasis	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0012337	HP:0012337	Abnormal homeostasis	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation			217
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0012337	HP:0012337	Abnormal homeostasis	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0012337	HP:0012337	Abnormal homeostasis	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0012337	HP:0012337	Abnormal homeostasis	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0012337	HP:0012337	Abnormal homeostasis	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012337	HP:0012337	Abnormal homeostasis	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0012337	HP:0012337	Abnormal homeostasis	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0012337	HP:0012337	Abnormal homeostasis	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0012337	HP:0012337	Abnormal homeostasis	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0012337	HP:0012337	Abnormal homeostasis	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2			69
HP:0012337	HP:0012337	Abnormal homeostasis	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0012337	HP:0012337	Abnormal homeostasis	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant			109
HP:0012337	HP:0012337	Abnormal homeostasis	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0012337	HP:0012337	Abnormal homeostasis	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0012337	HP:0012337	Abnormal homeostasis	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012337	HP:0012337	Abnormal homeostasis	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012337	HP:0012337	Abnormal homeostasis	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0012337	HP:0012337	Abnormal homeostasis	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012337	HP:0012337	Abnormal homeostasis	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0012337	HP:0012337	Abnormal homeostasis	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0012337	HP:0012337	Abnormal homeostasis	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0012337	HP:0012337	Abnormal homeostasis	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0012337	HP:0012337	Abnormal homeostasis	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0012337	HP:0012337	Abnormal homeostasis	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0012337	HP:0012337	Abnormal homeostasis	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0012337	HP:0012337	Abnormal homeostasis	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0012337	HP:0012337	Abnormal homeostasis	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0012337	HP:0012337	Abnormal homeostasis	0	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency			369
HP:0012337	HP:0012337	Abnormal homeostasis	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012337	HP:0012337	Abnormal homeostasis	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency			52
HP:0012337	HP:0012337	Abnormal homeostasis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012337	HP:0012337	Abnormal homeostasis	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0012337	HP:0012337	Abnormal homeostasis	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX4 CL E G H	5078	8618	OMIM:612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0012337	HP:0012337	Abnormal homeostasis	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDX1 CL E G H	3651	6107	OMIM:606392	Maturity-onset diabetes of the young, type 4			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0012337	HP:0012337	Abnormal homeostasis	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012337	HP:0012337	Abnormal homeostasis	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0012337	HP:0012337	Abnormal homeostasis	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth			162
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0012337	HP:0012337	Abnormal homeostasis	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0012337	HP:0012337	Abnormal homeostasis	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3			118
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0012337	HP:0012337	Abnormal homeostasis	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0012337	HP:0012337	Abnormal homeostasis	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0012337	HP:0012337	Abnormal homeostasis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012337	HP:0012337	Abnormal homeostasis	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0012337	HP:0012337	Abnormal homeostasis	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	POMC CL E G H	5443	9201	OMIM:601665	OBESITY			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0012337	HP:0012337	Abnormal homeostasis	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0012337	HP:0012337	Abnormal homeostasis	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0012337	HP:0012337	Abnormal homeostasis	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0012337	HP:0012337	Abnormal homeostasis	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012337	HP:0012337	Abnormal homeostasis	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0012337	HP:0012337	Abnormal homeostasis	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0012337	HP:0012337	Abnormal homeostasis	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0012337	HP:0012337	Abnormal homeostasis	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0012337	HP:0012337	Abnormal homeostasis	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0012337	HP:0012337	Abnormal homeostasis	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012337	HP:0012337	Abnormal homeostasis	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0012337	HP:0012337	Abnormal homeostasis	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0012337	HP:0012337	Abnormal homeostasis	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0012337	HP:0012337	Abnormal homeostasis	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0012337	HP:0012337	Abnormal homeostasis	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2			334
HP:0012337	HP:0012337	Abnormal homeostasis	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0012337	HP:0012337	Abnormal homeostasis	0	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0012337	HP:0012337	Abnormal homeostasis	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0012337	HP:0012337	Abnormal homeostasis	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0012337	HP:0012337	Abnormal homeostasis	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0012337	HP:0012337	Abnormal homeostasis	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012337	HP:0012337	Abnormal homeostasis	0	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0012337	HP:0012337	Abnormal homeostasis	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0012337	HP:0012337	Abnormal homeostasis	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0012337	HP:0012337	Abnormal homeostasis	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0012337	HP:0012337	Abnormal homeostasis	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0012337	HP:0012337	Abnormal homeostasis	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0012337	HP:0012337	Abnormal homeostasis	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0012337	HP:0012337	Abnormal homeostasis	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012337	HP:0012337	Abnormal homeostasis	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0012337	HP:0012337	Abnormal homeostasis	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0012337	HP:0012337	Abnormal homeostasis	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0012337	HP:0012337	Abnormal homeostasis	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia			181
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0012337	HP:0012337	Abnormal homeostasis	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	SAMHD1 CL E G H	25939	15925	OMIM:614415	Chilblain lupus 2			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia			146
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome			1134
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia			318
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0012337	HP:0012337	Abnormal homeostasis	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0012337	HP:0012337	Abnormal homeostasis	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012337	HP:0012337	Abnormal homeostasis	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0012337	HP:0012337	Abnormal homeostasis	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012337	HP:0012337	Abnormal homeostasis	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0012337	HP:0012337	Abnormal homeostasis	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0012337	HP:0012337	Abnormal homeostasis	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0012337	HP:0012337	Abnormal homeostasis	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0012337	HP:0012337	Abnormal homeostasis	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0012337	HP:0012337	Abnormal homeostasis	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0012337	HP:0012337	Abnormal homeostasis	0	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital			89
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			504
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0012337	HP:0012337	Abnormal homeostasis	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0012337	HP:0012337	Abnormal homeostasis	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0012337	HP:0012337	Abnormal homeostasis	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0012337	HP:0012337	Abnormal homeostasis	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0012337	Abnormal homeostasis	0	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0012337	HP:0012337	Abnormal homeostasis	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0012337	HP:0012337	Abnormal homeostasis	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0012337	HP:0012337	Abnormal homeostasis	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0012337	HP:0012337	Abnormal homeostasis	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0012337	HP:0012337	Abnormal homeostasis	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012337	HP:0012337	Abnormal homeostasis	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0012337	Abnormal homeostasis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0012337	HP:0012337	Abnormal homeostasis	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0012337	HP:0012337	Abnormal homeostasis	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0012337	HP:0012337	Abnormal homeostasis	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0012337	HP:0012337	Abnormal homeostasis	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012337	HP:0012337	Abnormal homeostasis	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0012337	HP:0012337	Abnormal homeostasis	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0012337	HP:0012337	Abnormal homeostasis	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012337	HP:0012337	Abnormal homeostasis	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012337	HP:0012337	Abnormal homeostasis	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0012337	HP:0012337	Abnormal homeostasis	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0012337	HP:0012337	Abnormal homeostasis	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TCF4 CL E G H	6925	11634	OMIM:613267	Corneal dystrophy, fuchs endothelial, 3			241
HP:0012337	HP:0012337	Abnormal homeostasis	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0012337	HP:0012337	Abnormal homeostasis	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0012337	HP:0012337	Abnormal homeostasis	0	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0012337	HP:0012337	Abnormal homeostasis	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TEK CL E G H	7010	11724	OMIM:617272	Glaucoma 3, primary congenital, E			78
HP:0012337	HP:0012337	Abnormal homeostasis	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0012337	HP:0012337	Abnormal homeostasis	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0012337	HP:0012337	Abnormal homeostasis	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0012337	HP:0012337	Abnormal homeostasis	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012337	HP:0012337	Abnormal homeostasis	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0012337	HP:0012337	Abnormal homeostasis	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0012337	HP:0012337	Abnormal homeostasis	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0012337	HP:0012337	Abnormal homeostasis	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0012337	HP:0012337	Abnormal homeostasis	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0012337	HP:0012337	Abnormal homeostasis	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012337	HP:0012337	Abnormal homeostasis	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0012337	HP:0012337	Abnormal homeostasis	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0012337	HP:0012337	Abnormal homeostasis	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0012337	HP:0012337	Abnormal homeostasis	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012337	HP:0012337	Abnormal homeostasis	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0012337	HP:0012337	Abnormal homeostasis	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012337	HP:0012337	Abnormal homeostasis	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0012337	HP:0012337	Abnormal homeostasis	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis			131
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0012337	HP:0012337	Abnormal homeostasis	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0012337	HP:0012337	Abnormal homeostasis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0012337	HP:0012337	Abnormal homeostasis	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0012337	HP:0012337	Abnormal homeostasis	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0012337	HP:0012337	Abnormal homeostasis	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0012337	HP:0012337	Abnormal homeostasis	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0012337	HP:0012337	Abnormal homeostasis	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0012337	HP:0012337	Abnormal homeostasis	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0012337	HP:0012337	Abnormal homeostasis	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0012337	HP:0012337	Abnormal homeostasis	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0012337	Abnormal homeostasis	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012337	HP:0012337	Abnormal homeostasis	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0012337	HP:0012337	Abnormal homeostasis	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0012337	HP:0012337	Abnormal homeostasis	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012337	HP:0012337	Abnormal homeostasis	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0012337	HP:0012337	Abnormal homeostasis	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0012337	HP:0012337	Abnormal homeostasis	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0012337	HP:0012337	Abnormal homeostasis	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0012337	HP:0012337	Abnormal homeostasis	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0012337	HP:0012337	Abnormal homeostasis	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0012337	HP:0012337	Abnormal homeostasis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0012337	HP:0012337	Abnormal homeostasis	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0012337	HP:0012337	Abnormal homeostasis	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0012337	HP:0012337	Abnormal homeostasis	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0012337	HP:0012337	Abnormal homeostasis	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0012337	HP:0012337	Abnormal homeostasis	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0012337	HP:0012337	Abnormal homeostasis	0	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0012337	HP:0012337	Abnormal homeostasis	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0012337	HP:0012337	Abnormal homeostasis	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012337	HP:0012337	Abnormal homeostasis	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012337	HP:0012337	Abnormal homeostasis	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012337	HP:0012337	Abnormal homeostasis	0	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0012337	HP:0012337	Abnormal homeostasis	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0012337	HP:0012337	Abnormal homeostasis	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0012337	HP:0012337	Abnormal homeostasis	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0012337	HP:0012337	Abnormal homeostasis	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0012337	HP:0012337	Abnormal homeostasis	0	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0012337	HP:0012337	Abnormal homeostasis	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0012337	HP:0012337	Abnormal homeostasis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012337	HP:0012337	Abnormal homeostasis	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0012337	HP:0012337	Abnormal homeostasis	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012337	HP:0012337	Abnormal homeostasis	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0012337	HP:0012337	Abnormal homeostasis	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0012337	HP:0012337	Abnormal homeostasis	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0012337	HP:0012337	Abnormal homeostasis	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0012337	HP:0012337	Abnormal homeostasis	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0012337	HP:0012337	Abnormal homeostasis	0	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			389
HP:0012337	HP:0012337	Abnormal homeostasis	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0012337	HP:0012337	Abnormal homeostasis	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0012337	HP:0012337	Abnormal homeostasis	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0012337	HP:0012337	Abnormal homeostasis	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0012337	HP:0012337	Abnormal homeostasis	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0012337	HP:0012337	Abnormal homeostasis	0	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC			199
HP:0012337	HP:0012337	Abnormal homeostasis	0	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB			71
HP:0012337	HP:0012337	Abnormal homeostasis	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0012337	HP:0012337	Abnormal homeostasis	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0012337	HP:0012337	Abnormal homeostasis	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0012337	HP:0012337	Abnormal homeostasis	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0012337	HP:0012337	Abnormal homeostasis	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0012337	HP:0012337	Abnormal homeostasis	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0012337	HP:0012337	Abnormal homeostasis	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0012337	HP:0012337	Abnormal homeostasis	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0012337	HP:0012337	Abnormal homeostasis	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0012337	HP:0012337	Abnormal homeostasis	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0012337	HP:0012337	Abnormal homeostasis	0	XPNPEP2 CL E G H	7512	12823	OMIM:300909	Acquired angioedema			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0012337	Abnormal homeostasis	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0012337	HP:0012337	Abnormal homeostasis	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0012337	HP:0012337	Abnormal homeostasis	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012337	HP:0012337	Abnormal homeostasis	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0012337	HP:0012337	Abnormal homeostasis	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0012337	HP:0012337	Abnormal homeostasis	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012337	HP:0012337	Abnormal homeostasis	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0012337	HP:0003142	Excessive purine production	1	CL E G H
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis			130
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis			130
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria			91
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria			91
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0012337	HP:0012338	Abnormal energy expenditure	1	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY			5
HP:0012337	HP:0012338	Abnormal energy expenditure	1	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0012337	HP:0012338	Abnormal energy expenditure	1	AGRP CL E G H	181	330	OMIM:601665	OBESITY			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1			260
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis			19
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency			50
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip			41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012337	HP:0012537	Food intolerance	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis			75
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3			63
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis			63
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition			164
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	APPL1 CL E G H	26060	24035	OMIM:616511	Maturity-onset diabetes of the young, type 14			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AR CL E G H	367	644	ORPHA:481	Kennedy disease			125
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome			125
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0012337	HP:0012537	Food intolerance	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY			80
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional		14
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional		14
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional		14
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus			22
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia			101
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11			75
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			385
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive			92
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5			247
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0012337	HP:0012338	Abnormal energy expenditure	1	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT			16
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1			86
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma			1371
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1			1371
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis			1371
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II			44
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0012337	HP:0012537	Food intolerance	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0012337	HP:0012537	Food intolerance	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent		39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9			35
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CPN1 CL E G H	1369	2312	OMIM:212070	Carboxypeptidase N deficiency			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4			101
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4			101
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE			92
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency			73
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency			73
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism			73
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency			73
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency			53
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency			86
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency			86
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1			73
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis			54
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			86
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			86
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			56
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant			56
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2			257
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia			79
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0012337	HP:0012537	Food intolerance	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.		172
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			186
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent			151
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0012337	HP:0012338	Abnormal energy expenditure	1	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY			151
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		158
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		199
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia			47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia			34
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy			9
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0012337	HP:0012537	Food intolerance	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia			137
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent			237
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCK CL E G H	2645	4195	OMIM:125851	Maturity-onset diabetes of the young, type II			237
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency			98
HP:0012337	HP:0012338	Abnormal energy expenditure	1	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC			37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3			80
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver			100
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver			100
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HMGCS2 CL E G H	3158	5008	ORPHA:35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency			42
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1A CL E G H	6927	11621	OMIM:612520	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20			161
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent			161
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial			161
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III			161
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent			90
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney			90
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent			138
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF4A CL E G H	3172	5024	OMIM:125850	Maturity-onset diabetes of the young, type 1			138
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA			23
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy			55
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD			53
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency			53
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		14
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		196
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IL2RA CL E G H	3559	6008	OMIM:601942	Diabetes mellitus, insulin-dependent, 10			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INS CL E G H	3630	6081	OMIM:125852	Diabetes mellitus, insulin-dependent, 2			62
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5			229
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency			229
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IRF8 CL E G H	3394	5358	ORPHA:319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	IVD CL E G H	3712	6186	ORPHA:33	Isovaleric acidemia			105
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			57
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent			127
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III			128
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy			528
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to			202
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous			327
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KLF11 CL E G H	8462	11811	OMIM:610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7			78
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID			118
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3			42
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2			46
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex			110
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome			110
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease			173
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex			173
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital			72
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital			72
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI			35
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent			35
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent			95
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			81
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			77
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis			281
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome			69
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0012337	HP:0012537	Food intolerance	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.		1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			97
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2			26
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MYD88 CL E G H	4615	7562	ORPHA:183713	Bacterial susceptibility due to TLR signaling pathway deficiency			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy			192
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease			192
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease			192
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24			16
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NEUROD1 CL E G H	4760	7762	OMIM:606394	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0012337	HP:0012338	Abnormal energy expenditure	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis			60
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation			217
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1			8
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2			69
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital			48
HP:0012337	HP:0012338	Abnormal energy expenditure	1	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome			58
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant			109
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant			109
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency			369
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency			52
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PAX4 CL E G H	5078	8618	OMIM:612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency			24
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency			98
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3			54
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3			54
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent			30
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDX1 CL E G H	3651	6107	OMIM:606392	Maturity-onset diabetes of the young, type 4			30
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.		86
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth			162
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3			118
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4			11
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)			45
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012337	HP:0012338	Abnormal energy expenditure	1	POMC CL E G H	5443	9201	OMIM:601665	OBESITY			27
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent			42
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0012337	HP:0012338	Abnormal energy expenditure	1	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY			42
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia			134
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2			54
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3			57
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2			334
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia			181
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1			1200
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1			1200
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SAMHD1 CL E G H	25939	15925	OMIM:614415	Chilblain lupus 2			55
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia			146
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia			19
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome			1134
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia			318
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2			67
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis			67
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3			67
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive			67
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive			67
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1			61
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis			61
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1			61
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis			57
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2			57
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0012337	HP:0012338	Abnormal energy expenditure	1	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency			40
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria			71
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital			89
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital			89
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent			71
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption			74
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption			74
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria			41
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli			504
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome			100
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0012337	HP:0012537	Food intolerance	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia			110
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia			12
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia			22
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated			57
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040281 - Very frequent		100
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TCF4 CL E G H	6925	11634	OMIM:613267	Corneal dystrophy, fuchs endothelial, 3			241
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TEK CL E G H	7010	11724	OMIM:617272	Glaucoma 3, primary congenital, E			78
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional		18
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0012337	HP:0040127	Abnormal sweat homeostasis	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby			98
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis			98
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency			5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition			44
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis			131
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5			113
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0012337	HP:0012338	Abnormal energy expenditure	1	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY			6
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012337	HP:0012537	Food intolerance	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9			6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3			13
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			389
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome			389
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC			199
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB			71
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	XPNPEP2 CL E G H	7512	12823	OMIM:300909	Acquired angioedema			4
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0004360	Abnormality of acid-base homeostasis	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012337	HP:0004370	Abnormality of temperature regulation	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012337	HP:0011032	Abnormality of fluid regulation	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0012337	HP:0011014	Abnormal glucose homeostasis	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0012337	HP:0012339	Increased resting energy expenditure	2	CL E G H
HP:0012337	HP:0032281	Abnormal base excess	2	CL E G H
HP:0012337	HP:0032369	Alkalemia	2	CL E G H
HP:0012337	HP:0040128	Abnormal sweat electrolytes	2	CL E G H
HP:0012337	HP:0001941	Acidosis	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0012337	HP:0001944	Dehydration	2	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional		130
HP:0012337	HP:0002047	Malignant hyperthermia	2	ABCA12 CL E G H	26154	14637	ORPHA:457	Harlequin ichthyosis	HP:0040283 - Occasional		130
HP:0012337	HP:0001944	Dehydration	2	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		130
HP:0012337	HP:0000969	Edema	2	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0012337	HP:0000842	Hyperinsulinemia	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		826
HP:0012337	HP:0001952	Glucose intolerance	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0012337	HP:0001952	Glucose intolerance	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0012337	HP:0001945	Fever	2	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional		119
HP:0012337	HP:0000969	Edema	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0012337	HP:0001945	Fever	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0012337	HP:0000969	Edema	2	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0012337	HP:0000842	Hyperinsulinemia	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent		245
HP:0012337	HP:0001952	Glucose intolerance	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0012337	HP:0001944	Dehydration	2	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		245
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0012337	HP:0000855	Insulin resistance	2	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		245
HP:0012337	HP:0001952	Glucose intolerance	2	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent			245
HP:0012337	HP:0001952	Glucose intolerance	2	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012337	HP:0000855	Insulin resistance	2	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0001952	Glucose intolerance	2	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0000842	Hyperinsulinemia	2	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0012337	HP:0000842	Hyperinsulinemia	2	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0012337	HP:0000855	Insulin resistance	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0001944	Dehydration	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0012337	HP:0001952	Glucose intolerance	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0000842	Hyperinsulinemia	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0000855	Insulin resistance	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0001952	Glucose intolerance	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent		245
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0000855	Insulin resistance	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0001941	Acidosis	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0001944	Dehydration	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0012337	HP:0001952	Glucose intolerance	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0000969	Edema	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0012337	HP:0032368	Acidemia	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0012337	HP:0001945	Fever	2	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		51
HP:0012337	HP:0001944	Dehydration	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		58
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0012337	HP:0000969	Edema	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012337	HP:0001941	Acidosis	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012337	HP:0000969	Edema	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0012337	HP:0001941	Acidosis	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0012337	HP:0000969	Edema	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012337	HP:0001941	Acidosis	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0012337	HP:0001941	Acidosis	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0012337	HP:0001941	Acidosis	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0012337	HP:0002045	Hypothermia	2	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.		111
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency			111
HP:0012337	HP:0001941	Acidosis	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0002045	Hypothermia	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0001941	Acidosis	2	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria			91
HP:0012337	HP:0001944	Dehydration	2	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.		91
HP:0012337	HP:0000969	Edema	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0012337	HP:0001941	Acidosis	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent		91
HP:0012337	HP:0001944	Dehydration	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent		91
HP:0012337	HP:0001945	Fever	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent		91
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0012337	HP:0001941	Acidosis	2	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency
HP:0012337	HP:0000969	Edema	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012337	HP:0001941	Acidosis	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0012337	HP:0001944	Dehydration	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0012337	HP:0032368	Acidemia	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0012337	HP:0001941	Acidosis	2	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria			68
HP:0012337	HP:0001944	Dehydration	2	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.		68
HP:0012337	HP:0000969	Edema	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0012337	HP:0000969	Edema	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0012337	HP:0000969	Edema	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0012337	HP:0000969	Edema	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0012337	HP:0000969	Edema	2	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.		27
HP:0012337	HP:0000969	Edema	2	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		27
HP:0012337	HP:0001945	Fever	2	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		27
HP:0012337	HP:0000969	Edema	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		75
HP:0012337	HP:0001945	Fever	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		75
HP:0012337	HP:0001945	Fever	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0012337	HP:0000969	Edema	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0001945	Fever	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012337	HP:0001952	Glucose intolerance	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012337	HP:0001941	Acidosis	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0012337	HP:0001945	Fever	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.		129
HP:0012337	HP:0000969	Edema	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0012337	HP:0000969	Edema	2	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.		1
HP:0012337	HP:0000969	Edema	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0012337	HP:0001945	Fever	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012337	HP:0001952	Glucose intolerance	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0012337	HP:0000969	Edema	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012337	HP:0000842	Hyperinsulinemia	2	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0012337	HP:0000855	Insulin resistance	2	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19	.
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	ADRB2 CL E G H	154	286	OMIM:601665	OBESITY	.		5
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	ADRB3 CL E G H	155	288	OMIM:601665	OBESITY	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0012337	HP:0000969	Edema	2	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012337	HP:0000842	Hyperinsulinemia	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0012337	HP:0001952	Glucose intolerance	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0000969	Edema	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0001941	Acidosis	2	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0012337	HP:0001941	Acidosis	2	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency			216
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0012337	HP:0000842	Hyperinsulinemia	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0012337	HP:0000855	Insulin resistance	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		85
HP:0012337	HP:0001952	Glucose intolerance	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0012337	HP:0000842	Hyperinsulinemia	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0012337	HP:0000855	Insulin resistance	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0012337	HP:0001952	Glucose intolerance	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	AGRP CL E G H	181	330	OMIM:601665	OBESITY	.		1
HP:0012337	HP:0001941	Acidosis	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0012337	HP:0001944	Dehydration	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0012337	HP:0001941	Acidosis	2	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1			260
HP:0012337	HP:0000969	Edema	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0012337	HP:0000842	Hyperinsulinemia	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		175
HP:0012337	HP:0001952	Glucose intolerance	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0012337	HP:0000842	Hyperinsulinemia	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0012337	HP:0001952	Glucose intolerance	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0001941	Acidosis	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0012337	HP:0001941	Acidosis	2	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0012337	HP:0000969	Edema	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0012337	HP:0001952	Glucose intolerance	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0012337	HP:0000969	Edema	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0012337	HP:0001948	Alkalosis	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0012337	HP:0001952	Glucose intolerance	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0012337	HP:0001952	Glucose intolerance	2	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0012337	HP:0001952	Glucose intolerance	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0012337	HP:0001944	Dehydration	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040283 - Occasional		19
HP:0012337	HP:0001945	Fever	2	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040282 - Frequent		19
HP:0012337	HP:0000969	Edema	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0012337	HP:0000855	Insulin resistance	2	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040280 - Obligate		12
HP:0012337	HP:0001952	Glucose intolerance	2	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0012337	HP:0000855	Insulin resistance	2	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		12
HP:0012337	HP:0001952	Glucose intolerance	2	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0012337	HP:0001952	Glucose intolerance	2	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040283 - Occasional		72
HP:0012337	HP:0000969	Edema	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0012337	HP:0000969	Edema	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040281 - Very frequent		104
HP:0012337	HP:0001941	Acidosis	2	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0012337	HP:0001941	Acidosis	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0012337	HP:0001945	Fever	2	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040281 - Very frequent		50
HP:0012337	HP:0001941	Acidosis	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0012337	HP:0001941	Acidosis	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0012337	HP:0000969	Edema	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0012337	HP:0005968	Temperature instability	2	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional		41
HP:0012337	HP:0005968	Temperature instability	2	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.		41
HP:0012337	HP:0000969	Edema	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012337	HP:0000969	Edema	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0012337	HP:0000969	Edema	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012337	HP:0000969	Edema	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent		46
HP:0012337	HP:0000969	Edema	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0012337	HP:0000969	Edema	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0012337	HP:0000969	Edema	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0012337	HP:0000842	Hyperinsulinemia	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0012337	HP:0000855	Insulin resistance	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0012337	HP:0001952	Glucose intolerance	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012337	HP:0000842	Hyperinsulinemia	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0012337	HP:0000855	Insulin resistance	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0012337	HP:0001952	Glucose intolerance	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0012337	HP:0001944	Dehydration	2	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		75
HP:0012337	HP:0002046	Heat intolerance	2	ALOXE3 CL E G H	59344	13743	OMIM:606545	Ichthyosis, congenital, autosomal recessive 3			63
HP:0012337	HP:0001944	Dehydration	2	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		63
HP:0012337	HP:0001945	Fever	2	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0012337	HP:0000969	Edema	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0012337	HP:0001945	Fever	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0012337	HP:0001952	Glucose intolerance	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0012337	HP:0000969	Edema	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0012337	HP:0000969	Edema	2	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0012337	HP:0000969	Edema	2	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0012337	HP:0001945	Fever	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		150
HP:0012337	HP:0000969	Edema	2	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition			164
HP:0012337	HP:0000969	Edema	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0001945	Fever	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0000969	Edema	2	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		6
HP:0012337	HP:0001945	Fever	2	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		6
HP:0012337	HP:0000969	Edema	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0012337	HP:0000969	Edema	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0012337	HP:0000969	Edema	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012337	HP:0000969	Edema	2	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0012337	HP:0001952	Glucose intolerance	2	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V			7
HP:0012337	HP:0001952	Glucose intolerance	2	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.		7
HP:0012337	HP:0001952	Glucose intolerance	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0012337	HP:0000969	Edema	2	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent		39
HP:0012337	HP:0000969	Edema	2	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		3
HP:0012337	HP:0001945	Fever	2	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0012337	HP:0001952	Glucose intolerance	2	APPL1 CL E G H	26060	24035	OMIM:616511	Maturity-onset diabetes of the young, type 14			2
HP:0012337	HP:0000842	Hyperinsulinemia	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0000855	Insulin resistance	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0001952	Glucose intolerance	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent		2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0001941	Acidosis	2	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0012337	HP:0001944	Dehydration	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0012337	HP:0001945	Fever	2	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0012337	HP:0001944	Dehydration	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0012337	HP:0001945	Fever	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent		75
HP:0012337	HP:0001952	Glucose intolerance	2	AR CL E G H	367	644	ORPHA:481	Kennedy disease			125
HP:0012337	HP:0008189	Insulin insensitivity	2	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional		125
HP:0012337	HP:0000969	Edema	2	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		4
HP:0012337	HP:0001945	Fever	2	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		4
HP:0012337	HP:0000969	Edema	2	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		3
HP:0012337	HP:0001945	Fever	2	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0012337	HP:0000969	Edema	2	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0012337	HP:0000842	Hyperinsulinemia	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		6
HP:0012337	HP:0001952	Glucose intolerance	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0012337	HP:0000969	Edema	2	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78			6
HP:0012337	HP:0000842	Hyperinsulinemia	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0012337	HP:0001952	Glucose intolerance	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0000842	Hyperinsulinemia	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0012337	HP:0001952	Glucose intolerance	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0000969	Edema	2	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0012337	HP:0000855	Insulin resistance	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012337	HP:0001952	Glucose intolerance	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012337	HP:0000842	Hyperinsulinemia	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		29
HP:0012337	HP:0001952	Glucose intolerance	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0012337	HP:0001952	Glucose intolerance	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0012337	HP:0001952	Glucose intolerance	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0012337	HP:0000969	Edema	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0012337	HP:0001945	Fever	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0012337	HP:0000969	Edema	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012337	HP:0001945	Fever	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012337	HP:0000969	Edema	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0012337	HP:0001948	Alkalosis	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0012337	HP:0001944	Dehydration	2	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0012337	HP:0000969	Edema	2	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0012337	HP:0001948	Alkalosis	2	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0012337	HP:0001945	Fever	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		145
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0012337	HP:0001941	Acidosis	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0012337	HP:0001941	Acidosis	2	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0012337	HP:0001941	Acidosis	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0012337	HP:0001952	Glucose intolerance	2	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia			3267
HP:0012337	HP:0001952	Glucose intolerance	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0012337	HP:0001945	Fever	2	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		3267
HP:0012337	HP:0000969	Edema	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012337	HP:0001945	Fever	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0012337	HP:0001944	Dehydration	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0012337	HP:0000969	Edema	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0012337	HP:0000969	Edema	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0012337	HP:0001945	Fever	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0012337	HP:0001944	Dehydration	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0012337	HP:0002047	Malignant hyperthermia	2	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY			80
HP:0012337	HP:0001941	Acidosis	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012337	HP:0031961	Abnormal serum anion gap	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012337	HP:0001941	Acidosis	2	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012337	HP:0001941	Acidosis	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0012337	HP:0001941	Acidosis	2	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0012337	HP:0001944	Dehydration	2	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0012337	HP:0001941	Acidosis	2	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0012337	HP:0002045	Hypothermia	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional		192
HP:0012337	HP:0002045	Hypothermia	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0012337	HP:0002045	Hypothermia	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0012337	HP:0000969	Edema	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0012337	HP:0000969	Edema	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0012337	HP:0001941	Acidosis	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0012337	HP:0000969	Edema	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0012337	HP:0001952	Glucose intolerance	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0012337	HP:0001941	Acidosis	2	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0012337	HP:0001945	Fever	2	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent		22
HP:0012337	HP:0001944	Dehydration	2	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0012337	HP:0001945	Fever	2	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0012337	HP:0001944	Dehydration	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0012337	HP:0001945	Fever	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent		67
HP:0012337	HP:0000969	Edema	2	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0012337	HP:0000969	Edema	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0012337	HP:0001945	Fever	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0012337	HP:0000969	Edema	2	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0012337	HP:0000969	Edema	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012337	HP:0000855	Insulin resistance	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012337	HP:0001952	Glucose intolerance	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012337	HP:0000842	Hyperinsulinemia	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		114
HP:0012337	HP:0001952	Glucose intolerance	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0012337	HP:0001952	Glucose intolerance	2	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0012337	HP:0000842	Hyperinsulinemia	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		97
HP:0012337	HP:0001952	Glucose intolerance	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012337	HP:0001945	Fever	2	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome			8
HP:0012337	HP:0000969	Edema	2	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0012337	HP:0001941	Acidosis	2	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0012337	HP:0000969	Edema	2	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0012337	HP:0001941	Acidosis	2	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0012337	HP:0001945	Fever	2	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		18
HP:0012337	HP:0000969	Edema	2	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0012337	HP:0001945	Fever	2	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		1
HP:0012337	HP:0000969	Edema	2	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0012337	HP:0001945	Fever	2	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		1
HP:0012337	HP:0000969	Edema	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012337	HP:0001945	Fever	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0012337	HP:0001945	Fever	2	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		5
HP:0012337	HP:0001941	Acidosis	2	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0012337	HP:0001941	Acidosis	2	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0012337	HP:0001941	Acidosis	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0000842	Hyperinsulinemia	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		182
HP:0012337	HP:0001952	Glucose intolerance	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0012337	HP:0002047	Malignant hyperthermia	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare		99
HP:0012337	HP:0001945	Fever	2	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0012337	HP:0001952	Glucose intolerance	2	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11			75
HP:0012337	HP:0000842	Hyperinsulinemia	2	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0000855	Insulin resistance	2	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0001952	Glucose intolerance	2	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent		75
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0000855	Insulin resistance	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent		314
HP:0012337	HP:0001952	Glucose intolerance	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0012337	HP:0001952	Glucose intolerance	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0012337	HP:0001944	Dehydration	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		4
HP:0012337	HP:0001945	Fever	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		4
HP:0012337	HP:0000969	Edema	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0012337	HP:0000969	Edema	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0012337	HP:0001952	Glucose intolerance	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0012337	HP:0000969	Edema	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0012337	HP:0001952	Glucose intolerance	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0012337	HP:0000969	Edema	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0012337	HP:0000969	Edema	2	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional		385
HP:0012337	HP:0001941	Acidosis	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0012337	HP:0000969	Edema	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0012337	HP:0001952	Glucose intolerance	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0012337	HP:0000969	Edema	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0012337	HP:0001952	Glucose intolerance	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0012337	HP:0000969	Edema	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0012337	HP:0002045	Hypothermia	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0012337	HP:0001945	Fever	2	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		5769
HP:0012337	HP:0001952	Glucose intolerance	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0012337	HP:0001945	Fever	2	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		7642
HP:0012337	HP:0001952	Glucose intolerance	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0012337	HP:0001945	Fever	2	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		7642
HP:0012337	HP:0000969	Edema	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0012337	HP:0000842	Hyperinsulinemia	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0012337	HP:0000855	Insulin resistance	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		105
HP:0012337	HP:0001952	Glucose intolerance	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0012337	HP:0000842	Hyperinsulinemia	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0012337	HP:0000855	Insulin resistance	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012337	HP:0001952	Glucose intolerance	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012337	HP:0000842	Hyperinsulinemia	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent		105
HP:0012337	HP:0000855	Insulin resistance	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040281 - Very frequent		105
HP:0012337	HP:0000969	Edema	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0012337	HP:0001948	Alkalosis	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012337	HP:0001944	Dehydration	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		53
HP:0012337	HP:0001948	Alkalosis	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012337	HP:0001941	Acidosis	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0012337	HP:0001941	Acidosis	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0012337	HP:0001945	Fever	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent		109
HP:0012337	HP:0000969	Edema	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0012337	HP:0001945	Fever	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0012337	HP:0002045	Hypothermia	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare		1
HP:0012337	HP:0000969	Edema	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0012337	HP:0000969	Edema	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0012337	HP:0000969	Edema	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0012337	HP:0000969	Edema	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0012337	HP:0000969	Edema	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012337	HP:0001941	Acidosis	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0012337	HP:0001945	Fever	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012337	HP:0001945	Fever	2	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive			92
HP:0012337	HP:0000969	Edema	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0012337	HP:0001945	Fever	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0012337	HP:0001944	Dehydration	2	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.		4
HP:0012337	HP:0012236	Elevated sweat chloride	2	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated			4
HP:0012337	HP:0001941	Acidosis	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012337	HP:0001941	Acidosis	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0012337	HP:0000842	Hyperinsulinemia	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		23
HP:0012337	HP:0001952	Glucose intolerance	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0012337	HP:0001941	Acidosis	2	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0012337	HP:0001948	Alkalosis	2	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency			10
HP:0012337	HP:0001944	Dehydration	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0012337	HP:0000969	Edema	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0012337	HP:0001945	Fever	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0012337	HP:0001948	Alkalosis	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0012337	HP:0001948	Alkalosis	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0012337	HP:0001941	Acidosis	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0012337	HP:0001945	Fever	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		247
HP:0012337	HP:0002047	Malignant hyperthermia	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		247
HP:0012337	HP:0001945	Fever	2	CACNA1S CL E G H	779	1397	OMIM:601887	Malignant hyperthermia, susceptibility to, 5	.		247
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0012337	HP:0001941	Acidosis	2	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0012337	HP:0000969	Edema	2	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0012337	HP:0001945	Fever	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0001945	Fever	2	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			1
HP:0012337	HP:0001945	Fever	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		1
HP:0012337	HP:0001941	Acidosis	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0012337	HP:0000969	Edema	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0012337	HP:0000969	Edema	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0012337	HP:0001952	Glucose intolerance	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012337	HP:0000969	Edema	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012337	HP:0001941	Acidosis	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012337	HP:0001941	Acidosis	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	CARTPT CL E G H	9607	24323	OMIM:601665	OBESITY	.		1
HP:0012337	HP:0001945	Fever	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		118
HP:0012337	HP:0000969	Edema	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0012337	HP:0001952	Glucose intolerance	2	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0012337	HP:0001952	Glucose intolerance	2	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0012337	HP:0000842	Hyperinsulinemia	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0012337	HP:0000855	Insulin resistance	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		11
HP:0012337	HP:0001952	Glucose intolerance	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0012337	HP:0000855	Insulin resistance	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0012337	HP:0001952	Glucose intolerance	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0012337	HP:0000855	Insulin resistance	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0012337	HP:0000969	Edema	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0012337	HP:0001952	Glucose intolerance	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0012337	HP:0000842	Hyperinsulinemia	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0012337	HP:0000855	Insulin resistance	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		48
HP:0012337	HP:0001952	Glucose intolerance	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0012337	HP:0000842	Hyperinsulinemia	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0012337	HP:0000855	Insulin resistance	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0012337	HP:0000969	Edema	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0012337	HP:0000969	Edema	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0012337	HP:0000969	Edema	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0012337	HP:0000969	Edema	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0012337	HP:0000855	Insulin resistance	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012337	HP:0001952	Glucose intolerance	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012337	HP:0000969	Edema	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0012337	HP:0000969	Edema	2	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0012337	HP:0000969	Edema	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0012337	HP:0001945	Fever	2	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		1
HP:0012337	HP:0000969	Edema	2	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0012337	HP:0000969	Edema	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0012337	HP:0000969	Edema	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0012337	HP:0001945	Fever	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012337	HP:0000969	Edema	2	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0001945	Fever	2	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0000969	Edema	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0012337	HP:0001945	Fever	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0012337	HP:0001945	Fever	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent		8
HP:0012337	HP:0001945	Fever	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0012337	HP:0000969	Edema	2	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		105
HP:0012337	HP:0001945	Fever	2	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		105
HP:0012337	HP:0032368	Acidemia	2	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT			16
HP:0012337	HP:0001945	Fever	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent		18
HP:0012337	HP:0001945	Fever	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040282 - Frequent		24
HP:0012337	HP:0000969	Edema	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0012337	HP:0000969	Edema	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0012337	HP:0001945	Fever	2	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0012337	HP:0001944	Dehydration	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		9
HP:0012337	HP:0001945	Fever	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		9
HP:0012337	HP:0001944	Dehydration	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		6
HP:0012337	HP:0001945	Fever	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		6
HP:0012337	HP:0000969	Edema	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0012337	HP:0000969	Edema	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0012337	HP:0000969	Edema	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0012337	HP:0000969	Edema	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0012337	HP:0000969	Edema	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0012337	HP:0001952	Glucose intolerance	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0012337	HP:0000842	Hyperinsulinemia	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		147
HP:0012337	HP:0001952	Glucose intolerance	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0012337	HP:0000969	Edema	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0012337	HP:0001944	Dehydration	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0012337	HP:0001944	Dehydration	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0012337	HP:0000842	Hyperinsulinemia	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0012337	HP:0001952	Glucose intolerance	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma			289
HP:0012337	HP:0001952	Glucose intolerance	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0012337	HP:0001944	Dehydration	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0012337	HP:0001944	Dehydration	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0012337	HP:0005968	Temperature instability	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012337	HP:0005968	Temperature instability	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0012337	HP:0001952	Glucose intolerance	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0012337	HP:0005968	Temperature instability	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome			200
HP:0012337	HP:0005968	Temperature instability	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0012337	HP:0012236	Elevated sweat chloride	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0012236	Elevated sweat chloride	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0001945	Fever	2	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain	.		3
HP:0012337	HP:0001952	Glucose intolerance	2	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0012337	HP:0000842	Hyperinsulinemia	2	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0000855	Insulin resistance	2	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0001952	Glucose intolerance	2	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent		25
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0001952	Glucose intolerance	2	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0012337	HP:0000969	Edema	2	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9			13
HP:0012337	HP:0000855	Insulin resistance	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0012337	HP:0000969	Edema	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0012337	HP:0000842	Hyperinsulinemia	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		71
HP:0012337	HP:0001952	Glucose intolerance	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0012337	HP:0000842	Hyperinsulinemia	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0012337	HP:0001952	Glucose intolerance	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0000969	Edema	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0012337	HP:0001945	Fever	2	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.		86
HP:0012337	HP:0001945	Fever	2	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0012337	HP:0001945	Fever	2	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0012337	HP:0000969	Edema	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0012337	HP:0000969	Edema	2	CFTR CL E G H	1080	1884	ORPHA:498359	Aquagenic palmoplantar keratoderma	HP:0040283 - Occasional		1371
HP:0012337	HP:0012236	Elevated sweat chloride	2	CFTR CL E G H	1080	1884	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	HP:0040283 - Occasional		1371
HP:0012337	HP:0001944	Dehydration	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	HP:0040283 - Occasional		1371
HP:0012337	HP:0012236	Elevated sweat chloride	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0012337	HP:0012236	Elevated sweat chloride	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0012337	HP:0001952	Glucose intolerance	2	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0012337	HP:0001945	Fever	2	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		1371
HP:0012337	HP:0000969	Edema	2	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0012337	HP:0001945	Fever	2	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0012337	HP:0001952	Glucose intolerance	2	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0012337	HP:0001941	Acidosis	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0012337	HP:0001941	Acidosis	2	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0012337	HP:0000969	Edema	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		515
HP:0012337	HP:0001945	Fever	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		515
HP:0012337	HP:0000969	Edema	2	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0012337	HP:0001945	Fever	2	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare		833
HP:0012337	HP:0000969	Edema	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0012337	HP:0002047	Malignant hyperthermia	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0012337	HP:0000969	Edema	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0012337	HP:0002047	Malignant hyperthermia	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0012337	HP:0000969	Edema	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0012337	HP:0002047	Malignant hyperthermia	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012337	HP:0000855	Insulin resistance	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0012337	HP:0001952	Glucose intolerance	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0012337	HP:0001941	Acidosis	2	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0012337	HP:0001952	Glucose intolerance	2	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0012337	HP:0000969	Edema	2	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0012337	HP:0001945	Fever	2	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0012337	HP:0001952	Glucose intolerance	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0012337	HP:0001952	Glucose intolerance	2	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0012337	HP:0000969	Edema	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0012337	HP:0012236	Elevated sweat chloride	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0002047	Malignant hyperthermia	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0012337	HP:0001948	Alkalosis	2	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II			44
HP:0012337	HP:0000969	Edema	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0012337	HP:0001948	Alkalosis	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012337	HP:0001944	Dehydration	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		9
HP:0012337	HP:0001948	Alkalosis	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012337	HP:0001944	Dehydration	2	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.		27
HP:0012337	HP:0001948	Alkalosis	2	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0012337	HP:0000969	Edema	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0012337	HP:0001948	Alkalosis	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012337	HP:0000855	Insulin resistance	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		27
HP:0012337	HP:0001941	Acidosis	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012337	HP:0001948	Alkalosis	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012337	HP:0001952	Glucose intolerance	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		27
HP:0012337	HP:0001944	Dehydration	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		27
HP:0012337	HP:0001948	Alkalosis	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012337	HP:0002046	Heat intolerance	2	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome			3
HP:0012337	HP:0001941	Acidosis	2	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0012337	HP:0000969	Edema	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012337	HP:0001941	Acidosis	2	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0012337	HP:0001944	Dehydration	2	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0012337	HP:0001984	Intolerance to protein	2	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0012337	HP:0001941	Acidosis	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012337	HP:0001941	Acidosis	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0001944	Dehydration	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0001945	Fever	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		38
HP:0012337	HP:0000842	Hyperinsulinemia	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		60
HP:0012337	HP:0001952	Glucose intolerance	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0012337	HP:0001952	Glucose intolerance	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0012337	HP:0008189	Insulin insensitivity	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.		1
HP:0012337	HP:0000842	Hyperinsulinemia	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		44
HP:0012337	HP:0001952	Glucose intolerance	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0012337	HP:0000842	Hyperinsulinemia	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		164
HP:0012337	HP:0001952	Glucose intolerance	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0012337	HP:0001952	Glucose intolerance	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0012337	HP:0000855	Insulin resistance	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0012337	HP:0001952	Glucose intolerance	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0012337	HP:0001941	Acidosis	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0012337	HP:0002045	Hypothermia	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0012337	HP:0001941	Acidosis	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0012337	HP:0000969	Edema	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0012337	HP:0001945	Fever	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0012337	HP:0001945	Fever	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0012337	HP:0000969	Edema	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0012337	HP:0001945	Fever	2	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.		373
HP:0012337	HP:0001945	Fever	2	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040282 - Frequent		373
HP:0012337	HP:0000969	Edema	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012337	HP:0000969	Edema	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0012337	HP:0000969	Edema	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0012337	HP:0000969	Edema	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent		284
HP:0012337	HP:0000969	Edema	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0012337	HP:0000969	Edema	2	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type			284
HP:0012337	HP:0000969	Edema	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0012337	HP:0001952	Glucose intolerance	2	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0012337	HP:0000969	Edema	2	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		161
HP:0012337	HP:0001945	Fever	2	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		161
HP:0012337	HP:0000969	Edema	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012337	HP:0000969	Edema	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012337	HP:0000969	Edema	2	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1			3
HP:0012337	HP:0000969	Edema	2	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0012337	HP:0000969	Edema	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0012337	HP:0001941	Acidosis	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0012337	HP:0000969	Edema	2	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0001941	Acidosis	2	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0001941	Acidosis	2	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0012337	HP:0001941	Acidosis	2	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0012337	HP:0001941	Acidosis	2	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0012337	HP:0000969	Edema	2	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		35
HP:0012337	HP:0001945	Fever	2	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		35
HP:0012337	HP:0000969	Edema	2	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.		35
HP:0012337	HP:0001941	Acidosis	2	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0012337	HP:0001952	Glucose intolerance	2	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0012337	HP:0001945	Fever	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012337	HP:0001941	Acidosis	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0001941	Acidosis	2	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0012337	HP:0001941	Acidosis	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		104
HP:0012337	HP:0000969	Edema	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0001941	Acidosis	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0001941	Acidosis	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0012337	HP:0001945	Fever	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0012337	HP:0001941	Acidosis	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012337	HP:0001941	Acidosis	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012337	HP:0001941	Acidosis	2	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012337	HP:0001941	Acidosis	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012337	HP:0001941	Acidosis	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0012337	HP:0001952	Glucose intolerance	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0012337	HP:0001952	Glucose intolerance	2	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0012337	HP:0001952	Glucose intolerance	2	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0012337	HP:0000842	Hyperinsulinemia	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012337	HP:0001952	Glucose intolerance	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012337	HP:0000969	Edema	2	CPN1 CL E G H	1369	2312	OMIM:212070	Carboxypeptidase N deficiency			2
HP:0012337	HP:0000969	Edema	2	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0012337	HP:0001948	Alkalosis	2	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to			124
HP:0012337	HP:0000969	Edema	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012337	HP:0001941	Acidosis	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0012337	HP:0001941	Acidosis	2	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0012337	HP:0001941	Acidosis	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0012337	HP:0001945	Fever	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0032065	Abnormal serum bicarbonate concentration	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0000969	Edema	2	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4			101
HP:0012337	HP:0001945	Fever	2	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4	.		101
HP:0012337	HP:0001945	Fever	2	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0012337	HP:0000842	Hyperinsulinemia	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		156
HP:0012337	HP:0001952	Glucose intolerance	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0012337	HP:0000969	Edema	2	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		12
HP:0012337	HP:0001945	Fever	2	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		12
HP:0012337	HP:0002047	Malignant hyperthermia	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0012337	HP:0001945	Fever	2	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0012337	HP:0000842	Hyperinsulinemia	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		158
HP:0012337	HP:0001952	Glucose intolerance	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0012337	HP:0000969	Edema	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0012337	HP:0001952	Glucose intolerance	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0012337	HP:0000969	Edema	2	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional		10
HP:0012337	HP:0000969	Edema	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0012337	HP:0001945	Fever	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		10
HP:0012337	HP:0000969	Edema	2	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional		10
HP:0012337	HP:0001952	Glucose intolerance	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma			88
HP:0012337	HP:0001952	Glucose intolerance	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0012337	HP:0000969	Edema	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0012337	HP:0001941	Acidosis	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0001944	Dehydration	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0001952	Glucose intolerance	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0001941	Acidosis	2	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0012337	HP:0001944	Dehydration	2	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0012337	HP:0001941	Acidosis	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0012337	HP:0001944	Dehydration	2	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare		178
HP:0012337	HP:0001952	Glucose intolerance	2	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0012337	HP:0000969	Edema	2	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0012337	HP:0001945	Fever	2	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0012337	HP:0001952	Glucose intolerance	2	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0012337	HP:0001952	Glucose intolerance	2	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012337	HP:0000969	Edema	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0012337	HP:0001941	Acidosis	2	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE			92
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0012337	HP:0001945	Fever	2	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		27
HP:0012337	HP:0001945	Fever	2	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		111
HP:0012337	HP:0000969	Edema	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0012337	HP:0001945	Fever	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0012337	HP:0001945	Fever	2	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0012337	HP:0000969	Edema	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0012337	HP:0001945	Fever	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0012337	HP:0001941	Acidosis	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0001944	Dehydration	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0001941	Acidosis	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0012337	HP:0001944	Dehydration	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0012337	HP:0001941	Acidosis	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0012337	HP:0001944	Dehydration	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0012337	HP:0001944	Dehydration	2	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.		73
HP:0012337	HP:0001945	Fever	2	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency			73
HP:0012337	HP:0001944	Dehydration	2	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent		73
HP:0012337	HP:0001944	Dehydration	2	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	.		73
HP:0012337	HP:0001948	Alkalosis	2	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency			53
HP:0012337	HP:0000855	Insulin resistance	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent		60
HP:0012337	HP:0001952	Glucose intolerance	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0012337	HP:0001945	Fever	2	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.		86
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency			86
HP:0012337	HP:0001944	Dehydration	2	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.		73
HP:0012337	HP:0001941	Acidosis	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0012337	HP:0001944	Dehydration	2	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		54
HP:0012337	HP:0000969	Edema	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0012337	HP:0000969	Edema	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0012337	HP:0001941	Acidosis	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0012337	HP:0001945	Fever	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0012337	HP:0001941	Acidosis	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0000969	Edema	2	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0012337	HP:0000842	Hyperinsulinemia	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040284 - Very rare		80
HP:0012337	HP:0000855	Insulin resistance	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040284 - Very rare		80
HP:0012337	HP:0001944	Dehydration	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional		80
HP:0012337	HP:0002045	Hypothermia	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional		80
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0012337	HP:0002045	Hypothermia	2	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0012337	HP:0000969	Edema	2	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0012337	HP:0001941	Acidosis	2	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0012337	HP:0000842	Hyperinsulinemia	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0012337	HP:0000855	Insulin resistance	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0012337	HP:0001952	Glucose intolerance	2	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome			87
HP:0012337	HP:0001952	Glucose intolerance	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0012337	HP:0000969	Edema	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0012337	HP:0000969	Edema	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0012337	HP:0001945	Fever	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0012337	HP:0012236	Elevated sweat chloride	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0001945	Fever	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0012337	HP:0002045	Hypothermia	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0012337	HP:0005968	Temperature instability	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.		43
HP:0012337	HP:0000969	Edema	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0012337	HP:0000969	Edema	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0001941	Acidosis	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0001945	Fever	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0001941	Acidosis	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0012337	HP:0002045	Hypothermia	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0012337	HP:0001941	Acidosis	2	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0012337	HP:0000969	Edema	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0012337	HP:0000842	Hyperinsulinemia	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0012337	HP:0001952	Glucose intolerance	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0012337	HP:0000969	Edema	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0012337	HP:0000969	Edema	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012337	HP:0000842	Hyperinsulinemia	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0012337	HP:0001952	Glucose intolerance	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0001945	Fever	2	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		164
HP:0012337	HP:0000842	Hyperinsulinemia	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent		164
HP:0012337	HP:0000969	Edema	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0012337	HP:0005968	Temperature instability	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012337	HP:0005968	Temperature instability	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0012337	HP:0001952	Glucose intolerance	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0012337	HP:0005968	Temperature instability	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0012337	HP:0005968	Temperature instability	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0012337	HP:0001952	Glucose intolerance	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0012337	HP:0001941	Acidosis	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0012337	HP:0001941	Acidosis	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0012337	HP:0001941	Acidosis	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0012337	HP:0001952	Glucose intolerance	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012337	HP:0001952	Glucose intolerance	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012337	HP:0005968	Temperature instability	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012337	HP:0005968	Temperature instability	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0012337	HP:0001952	Glucose intolerance	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0012337	HP:0005968	Temperature instability	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0012337	HP:0005968	Temperature instability	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0012337	HP:0001952	Glucose intolerance	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome			3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0012337	HP:0001941	Acidosis	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012337	HP:0032368	Acidemia	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012337	HP:0001952	Glucose intolerance	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0012337	HP:0001952	Glucose intolerance	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0012337	HP:0001952	Glucose intolerance	2	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0012337	HP:0000969	Edema	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012337	HP:0000969	Edema	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0012337	HP:0001945	Fever	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012337	HP:0001952	Glucose intolerance	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012337	HP:0001952	Glucose intolerance	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0012337	HP:0001941	Acidosis	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0012337	HP:0001941	Acidosis	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012337	HP:0002047	Malignant hyperthermia	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare		167
HP:0012337	HP:0000969	Edema	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0012337	HP:0000969	Edema	2	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0012337	HP:0001945	Fever	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0012337	HP:0000969	Edema	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012337	HP:0000969	Edema	2	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0012337	HP:0000969	Edema	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0012337	HP:0001941	Acidosis	2	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0012337	HP:0000969	Edema	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma	.		747
HP:0012337	HP:0001945	Fever	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0012337	HP:0001941	Acidosis	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012337	HP:0000969	Edema	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0012337	HP:0002045	Hypothermia	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		121
HP:0012337	HP:0000969	Edema	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040284 - Very rare		121
HP:0012337	HP:0002045	Hypothermia	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040284 - Very rare		121
HP:0012337	HP:0000969	Edema	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0012337	HP:0002045	Hypothermia	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		11
HP:0012337	HP:0001952	Glucose intolerance	2	DUT CL E G H	1854	3078	OMIM:620044
HP:0012337	HP:0000969	Edema	2	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0012337	HP:0000969	Edema	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0012337	HP:0000969	Edema	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0012337	HP:0000969	Edema	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0012337	HP:0000969	Edema	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0012337	HP:0001941	Acidosis	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0012337	HP:0000969	Edema	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0012337	HP:0001941	Acidosis	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		33
HP:0012337	HP:0001941	Acidosis	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0012337	HP:0001945	Fever	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0012337	HP:0002046	Heat intolerance	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0012337	HP:0001952	Glucose intolerance	2	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0012337	HP:0001952	Glucose intolerance	2	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0012337	HP:0002047	Malignant hyperthermia	2	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional		86
HP:0012337	HP:0002046	Heat intolerance	2	EDAR CL E G H	10913	2895	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		86
HP:0012337	HP:0002046	Heat intolerance	2	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.		86
HP:0012337	HP:0002047	Malignant hyperthermia	2	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional		56
HP:0012337	HP:0002046	Heat intolerance	2	EDARADD CL E G H	128178	14341	OMIM:129490	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	.		56
HP:0012337	HP:0002046	Heat intolerance	2	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0012337	HP:0012236	Elevated sweat chloride	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0001952	Glucose intolerance	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0012337	HP:0000969	Edema	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.		257
HP:0012337	HP:0001944	Dehydration	2	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.		257
HP:0012337	HP:0001941	Acidosis	2	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0012337	HP:0001941	Acidosis	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0001944	Dehydration	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0000855	Insulin resistance	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0012337	HP:0001952	Glucose intolerance	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0012337	HP:0000855	Insulin resistance	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0001941	Acidosis	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0001944	Dehydration	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0012337	HP:0001945	Fever	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0012337	HP:0001952	Glucose intolerance	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0000969	Edema	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0012337	HP:0001945	Fever	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0012337	HP:0001945	Fever	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0012337	HP:0001945	Fever	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0012337	HP:0001945	Fever	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0012337	HP:0001945	Fever	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0012337	HP:0001952	Glucose intolerance	2	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0012337	HP:0000969	Edema	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012337	HP:0001941	Acidosis	2	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0012337	HP:0001945	Fever	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		79
HP:0012337	HP:0001945	Fever	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0012337	HP:0001945	Fever	2	ELANE CL E G H	1991	3309	OMIM:162800	Cyclic neutropenia	.		79
HP:0012337	HP:0001945	Fever	2	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0012337	HP:0001952	Glucose intolerance	2	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0012337	HP:0000969	Edema	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012337	HP:0001952	Glucose intolerance	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012337	HP:0001952	Glucose intolerance	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.		172
HP:0012337	HP:0002047	Malignant hyperthermia	2	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent		133
HP:0012337	HP:0001945	Fever	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0012337	HP:0000969	Edema	2	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		4
HP:0012337	HP:0001945	Fever	2	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		4
HP:0012337	HP:0000969	Edema	2	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional		186
HP:0012337	HP:0000855	Insulin resistance	2	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		151
HP:0012337	HP:0001952	Glucose intolerance	2	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent			151
HP:0012337	HP:0000969	Edema	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0012337	HP:0001945	Fever	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	ENPP1 CL E G H	5167	3356	OMIM:601665	OBESITY	.		151
HP:0012337	HP:0000969	Edema	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0012337	HP:0001945	Fever	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		6
HP:0012337	HP:0001945	Fever	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		51
HP:0012337	HP:0001944	Dehydration	2	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent		170
HP:0012337	HP:0001941	Acidosis	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0012337	HP:0001941	Acidosis	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0012337	HP:0000969	Edema	2	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0012337	HP:0000969	Edema	2	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0012337	HP:0000969	Edema	2	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease			3
HP:0012337	HP:0000969	Edema	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0012337	HP:0001945	Fever	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0012337	HP:0000969	Edema	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0012337	HP:0001945	Fever	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0012337	HP:0001945	Fever	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0012337	HP:0001945	Fever	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0012337	HP:0000969	Edema	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0012337	HP:0001945	Fever	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0012337	HP:0000855	Insulin resistance	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012337	HP:0001941	Acidosis	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012337	HP:0001944	Dehydration	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012337	HP:0000842	Hyperinsulinemia	2	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.		13
HP:0012337	HP:0001952	Glucose intolerance	2	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.		13
HP:0012337	HP:0000842	Hyperinsulinemia	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent		13
HP:0012337	HP:0001952	Glucose intolerance	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent		13
HP:0012337	HP:0001941	Acidosis	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0012337	HP:0032368	Acidemia	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0012337	HP:0001941	Acidosis	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0012337	HP:0032368	Acidemia	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0012337	HP:0001941	Acidosis	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0012337	HP:0032368	Acidemia	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0012337	HP:0001941	Acidosis	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0012337	HP:0001941	Acidosis	2	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0012337	HP:0000842	Hyperinsulinemia	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		209
HP:0012337	HP:0001952	Glucose intolerance	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0012337	HP:0000969	Edema	2	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012337	HP:0001945	Fever	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		159
HP:0012337	HP:0000969	Edema	2	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A			303
HP:0012337	HP:0000969	Edema	2	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0012337	HP:0001941	Acidosis	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0001945	Fever	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0000842	Hyperinsulinemia	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		56
HP:0012337	HP:0001952	Glucose intolerance	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0012337	HP:0001941	Acidosis	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0012337	HP:0000969	Edema	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012337	HP:0000969	Edema	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0012337	HP:0000969	Edema	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0012337	HP:0001945	Fever	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		59
HP:0012337	HP:0000969	Edema	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0012337	HP:0001941	Acidosis	2	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012337	HP:0000969	Edema	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0012337	HP:0000969	Edema	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0012337	HP:0000969	Edema	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0012337	HP:0001952	Glucose intolerance	2	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0012337	HP:0001941	Acidosis	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0012337	HP:0001941	Acidosis	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0012337	HP:0001945	Fever	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0012337	HP:0001941	Acidosis	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0012337	HP:0001944	Dehydration	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	HP:0040283 - Occasional		6
HP:0012337	HP:0012236	Elevated sweat chloride	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0012337	HP:0001945	Fever	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional		5
HP:0012337	HP:0001952	Glucose intolerance	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0012337	HP:0005968	Temperature instability	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional		5
HP:0012337	HP:0001941	Acidosis	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0012337	HP:0000969	Edema	2	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040283 - Occasional		145
HP:0012337	HP:0000969	Edema	2	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.		145
HP:0012337	HP:0000969	Edema	2	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0012337	HP:0000969	Edema	2	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia			47
HP:0012337	HP:0000969	Edema	2	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia			62
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0012337	HP:0005968	Temperature instability	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012337	HP:0005968	Temperature instability	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0012337	HP:0001952	Glucose intolerance	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0012337	HP:0005968	Temperature instability	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0012337	HP:0005968	Temperature instability	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0012337	HP:0005968	Temperature instability	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0012337	HP:0001952	Glucose intolerance	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0012337	HP:0005968	Temperature instability	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0012337	HP:0001952	Glucose intolerance	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0012337	HP:0000969	Edema	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0012337	HP:0000969	Edema	2	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0012337	HP:0000969	Edema	2	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia			34
HP:0012337	HP:0001941	Acidosis	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0012337	HP:0000969	Edema	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0012337	HP:0000969	Edema	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0012337	HP:0001945	Fever	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0012337	HP:0000969	Edema	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012337	HP:0000969	Edema	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0012337	HP:0000969	Edema	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0012337	HP:0001952	Glucose intolerance	2	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0012337	HP:0000969	Edema	2	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0012337	HP:0000969	Edema	2	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease			90
HP:0012337	HP:0001952	Glucose intolerance	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0012337	HP:0000969	Edema	2	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy			9
HP:0012337	HP:0000842	Hyperinsulinemia	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0000969	Edema	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0001941	Acidosis	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0001945	Fever	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0000842	Hyperinsulinemia	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0012337	HP:0000855	Insulin resistance	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent
HP:0012337	HP:0001952	Glucose intolerance	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0012337	HP:0000969	Edema	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0012337	HP:0000969	Edema	2	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0012337	HP:0001952	Glucose intolerance	2	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0012337	HP:0000969	Edema	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012337	HP:0000969	Edema	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012337	HP:0005968	Temperature instability	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012337	HP:0005968	Temperature instability	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0012337	HP:0001952	Glucose intolerance	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0012337	HP:0005968	Temperature instability	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0012337	HP:0005968	Temperature instability	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0012337	HP:0001952	Glucose intolerance	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0012337	HP:0001945	Fever	2	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		184
HP:0012337	HP:0001952	Glucose intolerance	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0012337	HP:0001952	Glucose intolerance	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0012337	HP:0001941	Acidosis	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012337	HP:0001952	Glucose intolerance	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0012337	HP:0001941	Acidosis	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		61
HP:0012337	HP:0001941	Acidosis	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0012337	HP:0000969	Edema	2	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0012337	HP:0000969	Edema	2	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012337	HP:0000969	Edema	2	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012337	HP:0000842	Hyperinsulinemia	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		26
HP:0012337	HP:0001952	Glucose intolerance	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0012337	HP:0000969	Edema	2	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome			50
HP:0012337	HP:0012236	Elevated sweat chloride	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0012337	HP:0001952	Glucose intolerance	2	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0012337	HP:0001952	Glucose intolerance	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0012337	HP:0001952	Glucose intolerance	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0012337	HP:0000969	Edema	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0012337	HP:0001941	Acidosis	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0012337	HP:0001945	Fever	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.		101
HP:0012337	HP:0000969	Edema	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0012337	HP:0001945	Fever	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0012337	HP:0002045	Hypothermia	2	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0012337	HP:0001945	Fever	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0012337	HP:0005968	Temperature instability	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0012337	HP:0001945	Fever	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0012337	HP:0000842	Hyperinsulinemia	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0012337	HP:0001941	Acidosis	2	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0012337	HP:0000969	Edema	2	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012337	HP:0005968	Temperature instability	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012337	HP:0005968	Temperature instability	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0012337	HP:0001952	Glucose intolerance	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0012337	HP:0005968	Temperature instability	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0012337	HP:0005968	Temperature instability	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0012337	HP:0000969	Edema	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0012337	HP:0000969	Edema	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		29
HP:0012337	HP:0000969	Edema	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0012337	HP:0001945	Fever	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0012337	HP:0000969	Edema	2	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia			137
HP:0012337	HP:0001941	Acidosis	2	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0012337	HP:0001952	Glucose intolerance	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome			83
HP:0012337	HP:0000969	Edema	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0012337	HP:0000969	Edema	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0012337	HP:0001952	Glucose intolerance	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0012337	HP:0000855	Insulin resistance	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0012337	HP:0001952	Glucose intolerance	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0012337	HP:0000969	Edema	2	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0001941	Acidosis	2	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0000969	Edema	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0001941	Acidosis	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0001941	Acidosis	2	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.		86
HP:0012337	HP:0001941	Acidosis	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0001944	Dehydration	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		86
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0000969	Edema	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0012337	HP:0000969	Edema	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0012337	HP:0000969	Edema	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0012337	HP:0000969	Edema	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0012337	HP:0000969	Edema	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0012337	HP:0001941	Acidosis	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012337	HP:0032368	Acidemia	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0012337	HP:0001952	Glucose intolerance	2	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0012337	HP:0001945	Fever	2	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B			86
HP:0012337	HP:0000855	Insulin resistance	2	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		237
HP:0012337	HP:0001952	Glucose intolerance	2	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent			237
HP:0012337	HP:0001952	Glucose intolerance	2	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0012337	HP:0000842	Hyperinsulinemia	2	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0012337	HP:0001952	Glucose intolerance	2	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0012337	HP:0000842	Hyperinsulinemia	2	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0012337	HP:0001952	Glucose intolerance	2	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0012337	HP:0000855	Insulin resistance	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0001944	Dehydration	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		237
HP:0012337	HP:0001952	Glucose intolerance	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0001952	Glucose intolerance	2	GCK CL E G H	2645	4195	OMIM:125851	Maturity-onset diabetes of the young, type II			237
HP:0012337	HP:0000842	Hyperinsulinemia	2	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0000855	Insulin resistance	2	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0001952	Glucose intolerance	2	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent		237
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0012236	Elevated sweat chloride	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0012337	HP:0001941	Acidosis	2	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0012337	HP:0001945	Fever	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		56
HP:0012337	HP:0001941	Acidosis	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012337	HP:0001941	Acidosis	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012337	HP:0001941	Acidosis	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome			98
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency			98
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	GHRL CL E G H	51738	18129	OMIM:601665	OBESITY	.		4
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency			37
HP:0012337	HP:0001952	Glucose intolerance	2	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis			68
HP:0012337	HP:0001952	Glucose intolerance	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0012337	HP:0001952	Glucose intolerance	2	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis			74
HP:0012337	HP:0001952	Glucose intolerance	2	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis			12
HP:0012337	HP:0000969	Edema	2	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC			37
HP:0012337	HP:0000969	Edema	2	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease			37
HP:0012337	HP:0001941	Acidosis	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0012337	HP:0000969	Edema	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0012337	HP:0000969	Edema	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0012337	HP:0001945	Fever	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0012337	HP:0000969	Edema	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0012337	HP:0000969	Edema	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0012337	HP:0000969	Edema	2	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.		45
HP:0012337	HP:0005968	Temperature instability	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0012337	HP:0005968	Temperature instability	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0012337	HP:0001952	Glucose intolerance	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0012337	HP:0005968	Temperature instability	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0012337	HP:0005968	Temperature instability	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012337	HP:0001952	Glucose intolerance	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0012337	HP:0001952	Glucose intolerance	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0012337	HP:0000842	Hyperinsulinemia	2	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0012337	HP:0000842	Hyperinsulinemia	2	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0012337	HP:0001941	Acidosis	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012337	HP:0001941	Acidosis	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012337	HP:0000969	Edema	2	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional		7
HP:0012337	HP:0001952	Glucose intolerance	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0012337	HP:0000969	Edema	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012337	HP:0000969	Edema	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012337	HP:0001941	Acidosis	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012337	HP:0001945	Fever	2	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		73
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0012337	HP:0000969	Edema	2	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0012337	HP:0000855	Insulin resistance	2	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0012337	HP:0001952	Glucose intolerance	2	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0000969	Edema	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0012337	HP:0001952	Glucose intolerance	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome			2
HP:0012337	HP:0000969	Edema	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0012337	HP:0001945	Fever	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0012337	HP:0001952	Glucose intolerance	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0012337	HP:0000855	Insulin resistance	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0012337	HP:0000969	Edema	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0012337	HP:0000969	Edema	2	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3			80
HP:0012337	HP:0000969	Edema	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent		53
HP:0012337	HP:0001941	Acidosis	2	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0012337	HP:0012236	Elevated sweat chloride	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0000969	Edema	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0001952	Glucose intolerance	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0000969	Edema	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0001952	Glucose intolerance	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0000969	Edema	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0001952	Glucose intolerance	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0001941	Acidosis	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0012337	HP:0001941	Acidosis	2	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0012337	HP:0000842	Hyperinsulinemia	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		36
HP:0012337	HP:0001952	Glucose intolerance	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0012337	HP:0000969	Edema	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0012337	HP:0000969	Edema	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0012337	HP:0000969	Edema	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0012337	HP:0001945	Fever	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		5
HP:0012337	HP:0001941	Acidosis	2	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver			100
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver			100
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0012337	HP:0001945	Fever	2	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		4
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0012337	HP:0001945	Fever	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0012337	HP:0000842	Hyperinsulinemia	2	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0012337	HP:0000842	Hyperinsulinemia	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012337	HP:0001941	Acidosis	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0012337	HP:0000969	Edema	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0001941	Acidosis	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0000969	Edema	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0001941	Acidosis	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0001952	Glucose intolerance	2	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0012337	HP:0001945	Fever	2	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0012337	HP:0000969	Edema	2	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0012337	HP:0001945	Fever	2	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0012337	HP:0000969	Edema	2	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0012337	HP:0000969	Edema	2	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0012337	HP:0001952	Glucose intolerance	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0012337	HP:0001945	Fever	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0012337	HP:0001952	Glucose intolerance	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0012337	HP:0001945	Fever	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0012337	HP:0001952	Glucose intolerance	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0012337	HP:0032368	Acidemia	2	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type			100
HP:0012337	HP:0000969	Edema	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0012337	HP:0000969	Edema	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0012337	HP:0001945	Fever	2	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012337	HP:0000842	Hyperinsulinemia	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.		38
HP:0012337	HP:0001952	Glucose intolerance	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012337	HP:0005968	Temperature instability	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0012337	HP:0000969	Edema	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0012337	HP:0002045	Hypothermia	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome			21
HP:0012337	HP:0001952	Glucose intolerance	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0012337	HP:0012236	Elevated sweat chloride	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0012337	HP:0000969	Edema	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0012337	HP:0001952	Glucose intolerance	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0012337	HP:0000969	Edema	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0012337	HP:0001952	Glucose intolerance	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0012337	HP:0000969	Edema	2	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0012337	HP:0000842	Hyperinsulinemia	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		86
HP:0012337	HP:0001952	Glucose intolerance	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0012337	HP:0001941	Acidosis	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0012337	HP:0001952	Glucose intolerance	2	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0012337	HP:0000969	Edema	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0012337	HP:0000969	Edema	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0012337	HP:0001945	Fever	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		4
HP:0012337	HP:0001945	Fever	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		4
HP:0012337	HP:0000969	Edema	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0012337	HP:0001945	Fever	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional		4
HP:0012337	HP:0001945	Fever	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent		4
HP:0012337	HP:0001948	Alkalosis	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0012337	HP:0001945	Fever	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		4
HP:0012337	HP:0000969	Edema	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0001945	Fever	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0012337	HP:0000969	Edema	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0012337	HP:0001945	Fever	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		1
HP:0012337	HP:0001952	Glucose intolerance	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012337	HP:0001952	Glucose intolerance	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid
HP:0012337	HP:0001952	Glucose intolerance	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012337	HP:0001945	Fever	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040284 - Very rare		2
HP:0012337	HP:0001952	Glucose intolerance	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid			2
HP:0012337	HP:0000969	Edema	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0012337	HP:0001945	Fever	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		2
HP:0012337	HP:0001945	Fever	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		2
HP:0012337	HP:0000969	Edema	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0012337	HP:0001945	Fever	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0012337	HP:0002045	Hypothermia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040284 - Very rare		2
HP:0012337	HP:0000969	Edema	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0012337	HP:0001945	Fever	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0012337	HP:0000969	Edema	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012337	HP:0001945	Fever	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0012337	HP:0001941	Acidosis	2	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0012337	HP:0001945	Fever	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0012337	HP:0000855	Insulin resistance	2	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0001952	Glucose intolerance	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0012337	HP:0000969	Edema	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0012337	HP:0001941	Acidosis	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012337	HP:0001944	Dehydration	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0012337	HP:0001945	Fever	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0012337	HP:0002045	Hypothermia	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare		35
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012337	HP:0001941	Acidosis	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0012337	HP:0001945	Fever	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HMGCS2 CL E G H	3158	5008	ORPHA:35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency			42
HP:0012337	HP:0012236	Elevated sweat chloride	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1A CL E G H	6927	11621	OMIM:612520	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20			161
HP:0012337	HP:0001941	Acidosis	2	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1			161
HP:0012337	HP:0000855	Insulin resistance	2	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		161
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent			161
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial			161
HP:0012337	HP:0000842	Hyperinsulinemia	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III			161
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III			161
HP:0012337	HP:0000842	Hyperinsulinemia	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0000855	Insulin resistance	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent		161
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0012337	HP:0000855	Insulin resistance	2	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		90
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent			90
HP:0012337	HP:0001941	Acidosis	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012337	HP:0001941	Acidosis	2	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney			90
HP:0012337	HP:0001952	Glucose intolerance	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0012337	HP:0000855	Insulin resistance	2	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		138
HP:0012337	HP:0001952	Glucose intolerance	2	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent			138
HP:0012337	HP:0001941	Acidosis	2	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0012337	HP:0001952	Glucose intolerance	2	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0012337	HP:0000842	Hyperinsulinemia	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0012337	HP:0001941	Acidosis	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0001952	Glucose intolerance	2	HNF4A CL E G H	3172	5024	OMIM:125850	Maturity-onset diabetes of the young, type 1			138
HP:0012337	HP:0000842	Hyperinsulinemia	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0000855	Insulin resistance	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0001952	Glucose intolerance	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent		138
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0000969	Edema	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012337	HP:0001945	Fever	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0012337	HP:0002046	Heat intolerance	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0012337	HP:0000969	Edema	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012337	HP:0001945	Fever	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0012337	HP:0002046	Heat intolerance	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0012337	HP:0001941	Acidosis	2	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria			23
HP:0012337	HP:0001941	Acidosis	2	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA			23
HP:0012337	HP:0001941	Acidosis	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012337	HP:0000969	Edema	2	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy			55
HP:0012337	HP:0000969	Edema	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		55
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0012337	HP:0000969	Edema	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0012337	HP:0000969	Edema	2	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012337	HP:0001941	Acidosis	2	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0012337	HP:0000855	Insulin resistance	2	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional		5
HP:0012337	HP:0001948	Alkalosis	2	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0012337	HP:0001948	Alkalosis	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0012337	HP:0001941	Acidosis	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0012337	HP:0001941	Acidosis	2	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0012337	HP:0001941	Acidosis	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0012337	HP:0001944	Dehydration	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent		34
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0012337	HP:0000969	Edema	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0012337	HP:0002047	Malignant hyperthermia	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0012337	HP:0002047	Malignant hyperthermia	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0012337	HP:0001945	Fever	2	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent	.		2
HP:0012337	HP:0001941	Acidosis	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0012337	HP:0000855	Insulin resistance	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0001944	Dehydration	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0012337	HP:0001952	Glucose intolerance	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0000855	Insulin resistance	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0001944	Dehydration	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0012337	HP:0001952	Glucose intolerance	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0000855	Insulin resistance	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001941	Acidosis	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001944	Dehydration	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0012337	HP:0001952	Glucose intolerance	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0012337	HP:0001952	Glucose intolerance	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0012337	HP:0000969	Edema	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0012337	HP:0001941	Acidosis	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012337	HP:0001945	Fever	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0012337	HP:0032368	Acidemia	2	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0012337	HP:0000842	Hyperinsulinemia	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0012337	HP:0001952	Glucose intolerance	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0000969	Edema	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0012337	HP:0000842	Hyperinsulinemia	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0012337	HP:0001952	Glucose intolerance	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0012337	HP:0001952	Glucose intolerance	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0012337	HP:0001945	Fever	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012337	HP:0001952	Glucose intolerance	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0012337	HP:0000969	Edema	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012337	HP:0001945	Fever	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0012337	HP:0001945	Fever	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0012337	HP:0000969	Edema	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0012337	HP:0001945	Fever	2	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0012337	HP:0000969	Edema	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0012337	HP:0001945	Fever	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		60
HP:0012337	HP:0001945	Fever	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0012337	HP:0000842	Hyperinsulinemia	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		148
HP:0012337	HP:0001952	Glucose intolerance	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0012337	HP:0000969	Edema	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0012337	HP:0000842	Hyperinsulinemia	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0012337	HP:0001952	Glucose intolerance	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0001952	Glucose intolerance	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0012337	HP:0000969	Edema	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0012337	HP:0000842	Hyperinsulinemia	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0012337	HP:0001952	Glucose intolerance	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0000855	Insulin resistance	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0012337	HP:0001952	Glucose intolerance	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0012337	HP:0000855	Insulin resistance	2	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0008189	Insulin insensitivity	2	IGFALS CL E G H	3483	5468	OMIM:615961	ACID-LABILE SUBUNIT DEFICIENCY; ACLSD			53
HP:0012337	HP:0000855	Insulin resistance	2	IGFALS CL E G H	3483	5468	ORPHA:140941	Short stature due to primary acid-labile subunit deficiency	HP:0040282 - Frequent		53
HP:0012337	HP:0000969	Edema	2	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0012337	HP:0001945	Fever	2	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent		7
HP:0012337	HP:0001945	Fever	2	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		7
HP:0012337	HP:0001945	Fever	2	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		7
HP:0012337	HP:0001952	Glucose intolerance	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0012337	HP:0001944	Dehydration	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		7
HP:0012337	HP:0001945	Fever	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		7
HP:0012337	HP:0001952	Glucose intolerance	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0012337	HP:0001944	Dehydration	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		3
HP:0012337	HP:0001945	Fever	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0012337	HP:0000969	Edema	2	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect			3
HP:0012337	HP:0000969	Edema	2	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0012337	HP:0001945	Fever	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent		8
HP:0012337	HP:0001948	Alkalosis	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0012337	HP:0000969	Edema	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0012337	HP:0001945	Fever	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0012337	HP:0000969	Edema	2	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0001945	Fever	2	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0000969	Edema	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0012337	HP:0001945	Fever	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012337	HP:0000969	Edema	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0012337	HP:0001945	Fever	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		31
HP:0012337	HP:0001952	Glucose intolerance	2	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0012337	HP:0000969	Edema	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012337	HP:0000969	Edema	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0012337	HP:0001945	Fever	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0012337	HP:0001952	Glucose intolerance	2	IL2RA CL E G H	3559	6008	OMIM:601942	Diabetes mellitus, insulin-dependent, 10			65
HP:0012337	HP:0001952	Glucose intolerance	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0012337	HP:0000969	Edema	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0012337	HP:0001945	Fever	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0012337	HP:0000969	Edema	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0001945	Fever	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0000969	Edema	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		48
HP:0012337	HP:0001945	Fever	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		48
HP:0012337	HP:0001945	Fever	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0012337	HP:0001945	Fever	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0012337	HP:0001941	Acidosis	2	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0012337	HP:0001952	Glucose intolerance	2	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1			2
HP:0012337	HP:0000855	Insulin resistance	2	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		2
HP:0012337	HP:0001952	Glucose intolerance	2	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent			2
HP:0012337	HP:0000969	Edema	2	IL6 CL E G H	3569	6018	OMIM:148000	Kaposi sarcoma, susceptibility to	.		2
HP:0012337	HP:0000969	Edema	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0012337	HP:0001945	Fever	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0012337	HP:0033104	Inappropriate absence of fever	2	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5			1
HP:0012337	HP:0000969	Edema	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0012337	HP:0001945	Fever	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0012337	HP:0001945	Fever	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional		94
HP:0012337	HP:0000842	Hyperinsulinemia	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		52
HP:0012337	HP:0001952	Glucose intolerance	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0012337	HP:0000842	Hyperinsulinemia	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0012337	HP:0001952	Glucose intolerance	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0012337	HP:0000842	Hyperinsulinemia	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		120
HP:0012337	HP:0001952	Glucose intolerance	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0012337	HP:0000969	Edema	2	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		135
HP:0012337	HP:0001945	Fever	2	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		135
HP:0012337	HP:0000969	Edema	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0012337	HP:0000969	Edema	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0012337	HP:0001952	Glucose intolerance	2	INS CL E G H	3630	6081	OMIM:125852	Diabetes mellitus, insulin-dependent, 2			62
HP:0012337	HP:0001941	Acidosis	2	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0001952	Glucose intolerance	2	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0000842	Hyperinsulinemia	2	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia	HP:0040283 - Occasional		62
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia			62
HP:0012337	HP:0000855	Insulin resistance	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0001944	Dehydration	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		62
HP:0012337	HP:0001952	Glucose intolerance	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0001941	Acidosis	2	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0001952	Glucose intolerance	2	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0000842	Hyperinsulinemia	2	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0000855	Insulin resistance	2	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0001952	Glucose intolerance	2	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent		62
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0000842	Hyperinsulinemia	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0012337	HP:0000842	Hyperinsulinemia	2	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5			229
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5			229
HP:0012337	HP:0000842	Hyperinsulinemia	2	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency			229
HP:0012337	HP:0000855	Insulin resistance	2	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040283 - Occasional		229
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency			229
HP:0012337	HP:0001952	Glucose intolerance	2	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0012337	HP:0000842	Hyperinsulinemia	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0012337	HP:0000855	Insulin resistance	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent		229
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012337	HP:0000842	Hyperinsulinemia	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012337	HP:0000855	Insulin resistance	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0001941	Acidosis	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0001952	Glucose intolerance	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0000842	Hyperinsulinemia	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0000855	Insulin resistance	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0012337	HP:0001941	Acidosis	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0001952	Glucose intolerance	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0001941	Acidosis	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0012337	HP:0000842	Hyperinsulinemia	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0012337	HP:0001952	Glucose intolerance	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005968	Temperature instability	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0000969	Edema	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0012337	HP:0001945	Fever	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0012337	HP:0001945	Fever	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0012337	HP:0000855	Insulin resistance	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0012337	HP:0000969	Edema	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0012337	HP:0001945	Fever	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0012337	HP:0001945	Fever	2	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A			5
HP:0012337	HP:0001945	Fever	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B	.		5
HP:0012337	HP:0001945	Fever	2	IRF8 CL E G H	3394	5358	ORPHA:319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	HP:0040281 - Very frequent		5
HP:0012337	HP:0000855	Insulin resistance	2	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		5
HP:0012337	HP:0001952	Glucose intolerance	2	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent			5
HP:0012337	HP:0000855	Insulin resistance	2	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0012337	HP:0001952	Glucose intolerance	2	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0001941	Acidosis	2	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0012337	HP:0001941	Acidosis	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0012337	HP:0001952	Glucose intolerance	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012337	HP:0001952	Glucose intolerance	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0012337	HP:0001941	Acidosis	2	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0012337	HP:0000969	Edema	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0012337	HP:0001945	Fever	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0012337	HP:0002046	Heat intolerance	2	ITPR2 CL E G H	3709	6181	OMIM:106190	Anhidrosis, isolated, with normal sweat glands	.		1
HP:0012337	HP:0001941	Acidosis	2	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0012337	HP:0001952	Glucose intolerance	2	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0012337	HP:0001941	Acidosis	2	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia			105
HP:0012337	HP:0001941	Acidosis	2	IVD CL E G H	3712	6186	ORPHA:33	Isovaleric acidemia			105
HP:0012337	HP:0001944	Dehydration	2	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.		105
HP:0012337	HP:0000969	Edema	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0012337	HP:0002045	Hypothermia	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		130
HP:0012337	HP:0001941	Acidosis	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012337	HP:0000969	Edema	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0012337	HP:0001945	Fever	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		57
HP:0012337	HP:0001945	Fever	2	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			57
HP:0012337	HP:0001945	Fever	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		57
HP:0012337	HP:0001941	Acidosis	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012337	HP:0001941	Acidosis	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012337	HP:0000969	Edema	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0012337	HP:0001944	Dehydration	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0012337	HP:0001945	Fever	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0012337	HP:0001948	Alkalosis	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012337	HP:0001948	Alkalosis	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0012337	HP:0001948	Alkalosis	2	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012337	HP:0000842	Hyperinsulinemia	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent		127
HP:0012337	HP:0001952	Glucose intolerance	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0000842	Hyperinsulinemia	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0001944	Dehydration	2	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0012337	HP:0000855	Insulin resistance	2	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		127
HP:0012337	HP:0001952	Glucose intolerance	2	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent			127
HP:0012337	HP:0001941	Acidosis	2	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0001952	Glucose intolerance	2	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0000855	Insulin resistance	2	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0001952	Glucose intolerance	2	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0000842	Hyperinsulinemia	2	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0012337	HP:0000855	Insulin resistance	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0001944	Dehydration	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0012337	HP:0001952	Glucose intolerance	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0001952	Glucose intolerance	2	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13			127
HP:0012337	HP:0000842	Hyperinsulinemia	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0000855	Insulin resistance	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0001952	Glucose intolerance	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent		127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0000855	Insulin resistance	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0001941	Acidosis	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0001944	Dehydration	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0012337	HP:0001952	Glucose intolerance	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0001941	Acidosis	2	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0012337	HP:0001948	Alkalosis	2	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0012337	HP:0001941	Acidosis	2	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III			128
HP:0012337	HP:0012236	Elevated sweat chloride	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0012337	HP:0000969	Edema	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0012337	HP:0000969	Edema	2	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy			528
HP:0012337	HP:0000969	Edema	2	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0012337	HP:0000969	Edema	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0012337	HP:0001952	Glucose intolerance	2	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0012337	HP:0002047	Malignant hyperthermia	2	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional		1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012337	HP:0001952	Glucose intolerance	2	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis			4
HP:0012337	HP:0000969	Edema	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0012337	HP:0000842	Hyperinsulinemia	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0012337	HP:0001952	Glucose intolerance	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0000969	Edema	2	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0012337	HP:0000969	Edema	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0012337	HP:0000969	Edema	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent		46
HP:0012337	HP:0000969	Edema	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0012337	HP:0001945	Fever	2	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0012337	HP:0000969	Edema	2	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0012337	HP:0000969	Edema	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0012337	HP:0000969	Edema	2	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome			167
HP:0012337	HP:0000969	Edema	2	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0012337	HP:0000969	Edema	2	KIT CL E G H	3815	6342	OMIM:154800	Mastocytosis, cutaneous	.		327
HP:0012337	HP:0001945	Fever	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		327
HP:0012337	HP:0000842	Hyperinsulinemia	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		3
HP:0012337	HP:0001952	Glucose intolerance	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0000969	Edema	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0012337	HP:0001952	Glucose intolerance	2	KLF11 CL E G H	8462	11811	OMIM:610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7			78
HP:0012337	HP:0000842	Hyperinsulinemia	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0000855	Insulin resistance	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0001952	Glucose intolerance	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent		78
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0001941	Acidosis	2	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID			118
HP:0012337	HP:0000969	Edema	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0012337	HP:0000969	Edema	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0012337	HP:0001945	Fever	2	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.		42
HP:0012337	HP:0000842	Hyperinsulinemia	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		42
HP:0012337	HP:0001952	Glucose intolerance	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0012337	HP:0000969	Edema	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0012337	HP:0001945	Fever	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012337	HP:0000969	Edema	2	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6			7
HP:0012337	HP:0000969	Edema	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0012337	HP:0000969	Edema	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012337	HP:0000969	Edema	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0012337	HP:0001952	Glucose intolerance	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0012337	HP:0000969	Edema	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0012337	HP:0000969	Edema	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0012337	HP:0000969	Edema	2	KRT13 CL E G H	3860	6415	OMIM:615785	White sponge nevus 2	.		46
HP:0012337	HP:0002046	Heat intolerance	2	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent		110
HP:0012337	HP:0002046	Heat intolerance	2	KRT14 CL E G H	3861	6416	OMIM:161000	Naegeli syndrome	.		110
HP:0012337	HP:0002046	Heat intolerance	2	KRT14 CL E G H	3861	6416	ORPHA:69087	Naegeli-Franceschetti-Jadassohn syndrome			110
HP:0012337	HP:0001945	Fever	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.		19
HP:0012337	HP:0000969	Edema	2	KRT2 CL E G H	3849	6439	ORPHA:455	Superficial epidermolytic ichthyosis	HP:0040281 - Very frequent		67
HP:0012337	HP:0002046	Heat intolerance	2	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		173
HP:0012337	HP:0002046	Heat intolerance	2	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040282 - Frequent		173
HP:0012337	HP:0001941	Acidosis	2	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria			5
HP:0012337	HP:0032368	Acidemia	2	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012337	HP:0001945	Fever	2	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR			1
HP:0012337	HP:0000969	Edema	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012337	HP:0001945	Fever	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0012337	HP:0000969	Edema	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0012337	HP:0000969	Edema	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0012337	HP:0001944	Dehydration	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0012337	HP:0001945	Fever	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0012337	HP:0000969	Edema	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.		92
HP:0012337	HP:0000969	Edema	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0012337	HP:0001944	Dehydration	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0012337	HP:0001945	Fever	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0012337	HP:0000969	Edema	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0012337	HP:0001944	Dehydration	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0012337	HP:0001945	Fever	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0012337	HP:0001941	Acidosis	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0012337	HP:0001941	Acidosis	2	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0012337	HP:0000969	Edema	2	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0012337	HP:0000969	Edema	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0012337	HP:0001945	Fever	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent		70
HP:0012337	HP:0002046	Heat intolerance	2	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0012337	HP:0001941	Acidosis	2	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital			72
HP:0012337	HP:0001944	Dehydration	2	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.		72
HP:0012337	HP:0002046	Heat intolerance	2	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional		35
HP:0012337	HP:0001941	Acidosis	2	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI			35
HP:0012337	HP:0000855	Insulin resistance	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0012337	HP:0001952	Glucose intolerance	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0012337	HP:0000969	Edema	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0012337	HP:0000842	Hyperinsulinemia	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent		47
HP:0012337	HP:0000855	Insulin resistance	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0012337	HP:0001952	Glucose intolerance	2	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0012337	HP:0001952	Glucose intolerance	2	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency			46
HP:0012337	HP:0000842	Hyperinsulinemia	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent		46
HP:0012337	HP:0000855	Insulin resistance	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0012337	HP:0001952	Glucose intolerance	2	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0012337	HP:0001941	Acidosis	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012337	HP:0001952	Glucose intolerance	2	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0012337	HP:0000969	Edema	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0012337	HP:0002045	Hypothermia	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0012337	HP:0000969	Edema	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0012337	HP:0002045	Hypothermia	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4			43
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome			43
HP:0012337	HP:0001941	Acidosis	2	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0012337	HP:0001945	Fever	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0012337	HP:0001945	Fever	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0012337	HP:0001941	Acidosis	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0012337	HP:0001952	Glucose intolerance	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0012337	HP:0000969	Edema	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		88
HP:0012337	HP:0001945	Fever	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		88
HP:0012337	HP:0000969	Edema	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012337	HP:0001945	Fever	2	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040283 - Occasional		73
HP:0012337	HP:0000855	Insulin resistance	2	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		35
HP:0012337	HP:0001952	Glucose intolerance	2	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent			35
HP:0012337	HP:0000855	Insulin resistance	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040280 - Obligate		7
HP:0012337	HP:0001952	Glucose intolerance	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0012337	HP:0000855	Insulin resistance	2	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.		7
HP:0012337	HP:0001952	Glucose intolerance	2	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0012337	HP:0001944	Dehydration	2	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		1
HP:0012337	HP:0001941	Acidosis	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		21
HP:0012337	HP:0001941	Acidosis	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency			21
HP:0012337	HP:0001941	Acidosis	2	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities			2
HP:0012337	HP:0032368	Acidemia	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0012337	HP:0001952	Glucose intolerance	2	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0012337	HP:0000842	Hyperinsulinemia	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0012337	HP:0000855	Insulin resistance	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0012337	HP:0001952	Glucose intolerance	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0012337	HP:0000855	Insulin resistance	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0012337	HP:0001952	Glucose intolerance	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0012337	HP:0000855	Insulin resistance	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent		645
HP:0012337	HP:0001952	Glucose intolerance	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0012337	HP:0000842	Hyperinsulinemia	2	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040281 - Very frequent		645
HP:0012337	HP:0000855	Insulin resistance	2	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040281 - Very frequent		645
HP:0012337	HP:0001952	Glucose intolerance	2	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0012337	HP:0000855	Insulin resistance	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0012337	HP:0000842	Hyperinsulinemia	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0012337	HP:0000855	Insulin resistance	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0012337	HP:0001952	Glucose intolerance	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0012337	HP:0000842	Hyperinsulinemia	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0012337	HP:0000855	Insulin resistance	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0012337	HP:0001952	Glucose intolerance	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0012337	HP:0000855	Insulin resistance	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent		645
HP:0012337	HP:0002045	Hypothermia	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0012337	HP:0005968	Temperature instability	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0012337	HP:0000855	Insulin resistance	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional		11
HP:0012337	HP:0001952	Glucose intolerance	2	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to			11
HP:0012337	HP:0000969	Edema	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0012337	HP:0001941	Acidosis	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0012337	HP:0001945	Fever	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0012337	HP:0001945	Fever	2	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.		95
HP:0012337	HP:0000969	Edema	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent		186
HP:0012337	HP:0001945	Fever	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0012337	HP:0000969	Edema	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012337	HP:0001945	Fever	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012337	HP:0000842	Hyperinsulinemia	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		62
HP:0012337	HP:0001952	Glucose intolerance	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0012337	HP:0001952	Glucose intolerance	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0012337	HP:0000969	Edema	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0012337	HP:0001952	Glucose intolerance	2	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.		26
HP:0012337	HP:0001941	Acidosis	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0012337	HP:0001941	Acidosis	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0012337	HP:0001944	Dehydration	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		3
HP:0012337	HP:0001945	Fever	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0012337	HP:0001945	Fever	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0000969	Edema	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0012337	HP:0001941	Acidosis	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0012337	HP:0001941	Acidosis	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0012337	HP:0000969	Edema	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0012337	HP:0001945	Fever	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0012337	HP:0000969	Edema	2	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0012337	HP:0000969	Edema	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0012337	HP:0000969	Edema	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0012337	HP:0000969	Edema	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012337	HP:0000842	Hyperinsulinemia	2	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0012337	HP:0001952	Glucose intolerance	2	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0012337	HP:0001952	Glucose intolerance	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0012337	HP:0005968	Temperature instability	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0012337	HP:0000842	Hyperinsulinemia	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.		63
HP:0012337	HP:0001952	Glucose intolerance	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012337	HP:0005968	Temperature instability	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012337	HP:0000969	Edema	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0012337	HP:0001952	Glucose intolerance	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0012337	HP:0000969	Edema	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0012337	HP:0001952	Glucose intolerance	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0012337	HP:0000969	Edema	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0012337	HP:0001952	Glucose intolerance	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0012337	HP:0000969	Edema	2	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		59
HP:0012337	HP:0001945	Fever	2	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		59
HP:0012337	HP:0000842	Hyperinsulinemia	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		53
HP:0012337	HP:0001952	Glucose intolerance	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0012337	HP:0001945	Fever	2	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent		6
HP:0012337	HP:0000969	Edema	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0012337	HP:0002046	Heat intolerance	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0012337	HP:0000969	Edema	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0012337	HP:0000969	Edema	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0012337	HP:0002046	Heat intolerance	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0012337	HP:0000969	Edema	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012337	HP:0000855	Insulin resistance	2	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0000969	Edema	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040281 - Very frequent		4
HP:0012337	HP:0001941	Acidosis	2	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0012337	HP:0002046	Heat intolerance	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0012337	HP:0000842	Hyperinsulinemia	2	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0012337	HP:0000842	Hyperinsulinemia	2	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040283 - Occasional		54
HP:0012337	HP:0001952	Glucose intolerance	2	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0012337	HP:0001941	Acidosis	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			81
HP:0012337	HP:0001941	Acidosis	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency			77
HP:0012337	HP:0001941	Acidosis	2	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency			19
HP:0012337	HP:0001944	Dehydration	2	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency	.		19
HP:0012337	HP:0000969	Edema	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012337	HP:0001945	Fever	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012337	HP:0000969	Edema	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0012337	HP:0001941	Acidosis	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0012337	HP:0000969	Edema	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0012337	HP:0001941	Acidosis	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0012337	HP:0000969	Edema	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012337	HP:0000969	Edema	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0012337	HP:0001945	Fever	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		281
HP:0012337	HP:0000969	Edema	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0012337	HP:0001945	Fever	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent		281
HP:0012337	HP:0000969	Edema	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012337	HP:0001945	Fever	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012337	HP:0001945	Fever	2	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0012337	HP:0000969	Edema	2	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis			281
HP:0012337	HP:0001945	Fever	2	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0012337	HP:0001945	Fever	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0012337	HP:0001952	Glucose intolerance	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012337	HP:0001952	Glucose intolerance	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012337	HP:0000842	Hyperinsulinemia	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		462
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0012337	HP:0001944	Dehydration	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0012337	HP:0001952	Glucose intolerance	2	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0012337	HP:0000842	Hyperinsulinemia	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		75
HP:0012337	HP:0001952	Glucose intolerance	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0012337	HP:0000969	Edema	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0001952	Glucose intolerance	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0000855	Insulin resistance	2	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040282 - Frequent		203
HP:0012337	HP:0000969	Edema	2	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0012337	HP:0000969	Edema	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0012337	HP:0001952	Glucose intolerance	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012337	HP:0001941	Acidosis	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0002045	Hypothermia	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0012236	Elevated sweat chloride	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0012337	HP:0000969	Edema	2	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0012337	HP:0001945	Fever	2	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0012337	HP:0001941	Acidosis	2	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0012337	HP:0001952	Glucose intolerance	2	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6			69
HP:0012337	HP:0000969	Edema	2	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.		69
HP:0012337	HP:0000842	Hyperinsulinemia	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.		5
HP:0012337	HP:0001952	Glucose intolerance	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012337	HP:0005968	Temperature instability	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012337	HP:0000842	Hyperinsulinemia	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0012337	HP:0001952	Glucose intolerance	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005968	Temperature instability	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0001945	Fever	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0012337	HP:0000969	Edema	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0001952	Glucose intolerance	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0001952	Glucose intolerance	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.		1
HP:0012337	HP:0001941	Acidosis	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0012337	HP:0001941	Acidosis	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0012337	HP:0001944	Dehydration	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0012337	HP:0032368	Acidemia	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0012337	HP:0001941	Acidosis	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0012337	HP:0001944	Dehydration	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0012337	HP:0032368	Acidemia	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0012337	HP:0000969	Edema	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0001941	Acidosis	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0001944	Dehydration	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0012337	HP:0002045	Hypothermia	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0032368	Acidemia	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0012337	HP:0001941	Acidosis	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0012337	HP:0032368	Acidemia	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0012337	HP:0032368	Acidemia	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type			50
HP:0012337	HP:0001952	Glucose intolerance	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0012337	HP:0001952	Glucose intolerance	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0012337	HP:0001941	Acidosis	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0001944	Dehydration	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0032368	Acidemia	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0001944	Dehydration	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040281 - Very frequent
HP:0012337	HP:0001952	Glucose intolerance	2	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0012337	HP:0000969	Edema	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0012337	HP:0000969	Edema	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0012337	HP:0001941	Acidosis	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0012337	HP:0000842	Hyperinsulinemia	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0012337	HP:0000969	Edema	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0012337	HP:0000842	Hyperinsulinemia	2	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0012337	HP:0000969	Edema	2	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent		51
HP:0012337	HP:0001945	Fever	2	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			97
HP:0012337	HP:0001945	Fever	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		97
HP:0012337	HP:0001941	Acidosis	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2			26
HP:0012337	HP:0000969	Edema	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0012337	HP:0001941	Acidosis	2	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012337	HP:0001941	Acidosis	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012337	HP:0001941	Acidosis	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0031961	Abnormal serum anion gap	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0001941	Acidosis	2	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0012337	HP:0001941	Acidosis	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012337	HP:0000969	Edema	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.		60
HP:0012337	HP:0001941	Acidosis	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0012337	HP:0001941	Acidosis	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012337	HP:0000969	Edema	2	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0012337	HP:0001941	Acidosis	2	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0012337	HP:0001941	Acidosis	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0001944	Dehydration	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0001941	Acidosis	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0012337	HP:0001941	Acidosis	2	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012337	HP:0000969	Edema	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0012337	HP:0001945	Fever	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0012337	HP:0001952	Glucose intolerance	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0012337	HP:0001941	Acidosis	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0012337	HP:0001941	Acidosis	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		29
HP:0012337	HP:0001945	Fever	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0012337	HP:0001952	Glucose intolerance	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0012337	HP:0001945	Fever	2	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0012337	HP:0001952	Glucose intolerance	2	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0012337	HP:0002047	Malignant hyperthermia	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare		7
HP:0012337	HP:0000855	Insulin resistance	2	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		4
HP:0012337	HP:0001952	Glucose intolerance	2	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0012337	HP:0001941	Acidosis	2	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0012337	HP:0001941	Acidosis	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0012337	HP:0001952	Glucose intolerance	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0012337	HP:0000855	Insulin resistance	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040282 - Frequent
HP:0012337	HP:0001945	Fever	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0012337	HP:0001945	Fever	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0012337	HP:0000969	Edema	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0012337	HP:0000969	Edema	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0012337	HP:0001945	Fever	2	MYD88 CL E G H	4615	7562	ORPHA:183713	Bacterial susceptibility due to TLR signaling pathway deficiency	HP:0040283 - Occasional		9
HP:0012337	HP:0000969	Edema	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0012337	HP:0001945	Fever	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0012337	HP:0002047	Malignant hyperthermia	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare		19
HP:0012337	HP:0002047	Malignant hyperthermia	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0012337	HP:0002047	Malignant hyperthermia	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		166
HP:0012337	HP:0000969	Edema	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0012337	HP:0000969	Edema	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0012337	HP:0000969	Edema	2	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0012337	HP:0000969	Edema	2	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.		3
HP:0012337	HP:0000969	Edema	2	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		3
HP:0012337	HP:0001945	Fever	2	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		3
HP:0012337	HP:0005968	Temperature instability	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0012337	HP:0001944	Dehydration	2	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy	.		192
HP:0012337	HP:0001941	Acidosis	2	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease			192
HP:0012337	HP:0001944	Dehydration	2	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent		192
HP:0012337	HP:0000969	Edema	2	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0012337	HP:0000969	Edema	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0012337	HP:0000969	Edema	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0001952	Glucose intolerance	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0001945	Fever	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0012337	HP:0001945	Fever	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0012337	HP:0001941	Acidosis	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012337	HP:0000969	Edema	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0012337	HP:0000969	Edema	2	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0012337	HP:0000969	Edema	2	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0012337	HP:0002047	Malignant hyperthermia	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		48
HP:0012337	HP:0001941	Acidosis	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012337	HP:0001948	Alkalosis	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0012337	HP:0001944	Dehydration	2	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		34
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0012337	HP:0000969	Edema	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0001941	Acidosis	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0001945	Fever	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0000969	Edema	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0012337	HP:0001941	Acidosis	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0012337	HP:0001945	Fever	2	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		13
HP:0012337	HP:0000969	Edema	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012337	HP:0001952	Glucose intolerance	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012337	HP:0001945	Fever	2	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		67
HP:0012337	HP:0001945	Fever	2	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		37
HP:0012337	HP:0001941	Acidosis	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001952	Glucose intolerance	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001941	Acidosis	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001952	Glucose intolerance	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001941	Acidosis	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001952	Glucose intolerance	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001941	Acidosis	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0000969	Edema	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012337	HP:0001952	Glucose intolerance	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0012337	HP:0000969	Edema	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012337	HP:0001952	Glucose intolerance	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0012337	HP:0000969	Edema	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012337	HP:0001952	Glucose intolerance	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0012337	HP:0000969	Edema	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012337	HP:0001952	Glucose intolerance	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0012337	HP:0001941	Acidosis	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0012337	HP:0001941	Acidosis	2	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0012337	HP:0001941	Acidosis	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		91
HP:0012337	HP:0001941	Acidosis	2	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0012337	HP:0001941	Acidosis	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0012337	HP:0001941	Acidosis	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0012337	HP:0001941	Acidosis	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		7
HP:0012337	HP:0001941	Acidosis	2	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0012337	HP:0001941	Acidosis	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		3
HP:0012337	HP:0001941	Acidosis	2	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0012337	HP:0001941	Acidosis	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		19
HP:0012337	HP:0001941	Acidosis	2	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0012337	HP:0001941	Acidosis	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		4
HP:0012337	HP:0001941	Acidosis	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0012337	HP:0001941	Acidosis	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0001941	Acidosis	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012337	HP:0001941	Acidosis	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012337	HP:0001941	Acidosis	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0012337	HP:0001941	Acidosis	2	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0012337	HP:0001941	Acidosis	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0012337	HP:0001941	Acidosis	2	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0012337	HP:0001941	Acidosis	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0012337	HP:0001941	Acidosis	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		26
HP:0012337	HP:0001941	Acidosis	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0012337	HP:0001941	Acidosis	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0012337	HP:0001941	Acidosis	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0012337	HP:0001941	Acidosis	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0012337	HP:0001941	Acidosis	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0012337	HP:0001941	Acidosis	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0012337	HP:0001941	Acidosis	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		34
HP:0012337	HP:0001941	Acidosis	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012337	HP:0001941	Acidosis	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0012337	HP:0001941	Acidosis	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		39
HP:0012337	HP:0001941	Acidosis	2	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0012337	HP:0001941	Acidosis	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0001944	Dehydration	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		39
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0001941	Acidosis	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001941	Acidosis	2	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012337	HP:0001941	Acidosis	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012337	HP:0000969	Edema	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0001941	Acidosis	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0001941	Acidosis	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0012337	HP:0001941	Acidosis	2	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0012337	HP:0001941	Acidosis	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0012337	HP:0001941	Acidosis	2	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0012337	HP:0001941	Acidosis	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0012337	HP:0001941	Acidosis	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0012337	HP:0001941	Acidosis	2	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0012337	HP:0001941	Acidosis	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0012337	HP:0001941	Acidosis	2	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24			16
HP:0012337	HP:0001941	Acidosis	2	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012337	HP:0001941	Acidosis	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0012337	HP:0001941	Acidosis	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		81
HP:0012337	HP:0001941	Acidosis	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0012337	HP:0001941	Acidosis	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0012337	HP:0001941	Acidosis	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0012337	HP:0001941	Acidosis	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		65
HP:0012337	HP:0001941	Acidosis	2	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0012337	HP:0001941	Acidosis	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0012337	HP:0001941	Acidosis	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		22
HP:0012337	HP:0001941	Acidosis	2	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0012337	HP:0001941	Acidosis	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0001941	Acidosis	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0012337	HP:0000969	Edema	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0001941	Acidosis	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0001941	Acidosis	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0012337	HP:0001941	Acidosis	2	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9			21
HP:0012337	HP:0001941	Acidosis	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0012337	HP:0001941	Acidosis	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		38
HP:0012337	HP:0001941	Acidosis	2	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0012337	HP:0001941	Acidosis	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0012337	HP:0001941	Acidosis	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		42
HP:0012337	HP:0001941	Acidosis	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0012337	HP:0001941	Acidosis	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0012337	HP:0001941	Acidosis	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		74
HP:0012337	HP:0001941	Acidosis	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012337	HP:0001941	Acidosis	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0001952	Glucose intolerance	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0012337	HP:0001941	Acidosis	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		27
HP:0012337	HP:0001941	Acidosis	2	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0012337	HP:0000969	Edema	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0012337	HP:0002046	Heat intolerance	2	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	HP:0040283 - Occasional		7
HP:0012337	HP:0000969	Edema	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0012337	HP:0000842	Hyperinsulinemia	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0012337	HP:0001952	Glucose intolerance	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0012337	HP:0000969	Edema	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0012337	HP:0000969	Edema	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent		43
HP:0012337	HP:0000969	Edema	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0012337	HP:0000855	Insulin resistance	2	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		32
HP:0012337	HP:0001952	Glucose intolerance	2	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			32
HP:0012337	HP:0001952	Glucose intolerance	2	NEUROD1 CL E G H	4760	7762	OMIM:606394	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6			32
HP:0012337	HP:0000842	Hyperinsulinemia	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0000855	Insulin resistance	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0001952	Glucose intolerance	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent		32
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0001941	Acidosis	2	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0012337	HP:0001944	Dehydration	2	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.		5
HP:0012337	HP:0001941	Acidosis	2	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0001944	Dehydration	2	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040281 - Very frequent		5
HP:0012337	HP:0001952	Glucose intolerance	2	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0012337	HP:0002046	Heat intolerance	2	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.		27
HP:0012337	HP:0000969	Edema	2	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0012337	HP:0001945	Fever	2	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0012337	HP:0001941	Acidosis	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0012337	HP:0001941	Acidosis	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012337	HP:0001945	Fever	2	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V			20
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0012337	HP:0001941	Acidosis	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012337	HP:0001945	Fever	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0012337	HP:0001952	Glucose intolerance	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0012337	HP:0001944	Dehydration	2	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		60
HP:0012337	HP:0000969	Edema	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0012337	HP:0001945	Fever	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0012337	HP:0000969	Edema	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0012337	HP:0001952	Glucose intolerance	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0012337	HP:0000969	Edema	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0012337	HP:0001945	Fever	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0012337	HP:0001945	Fever	2	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0012337	HP:0001945	Fever	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0012337	HP:0001945	Fever	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012337	HP:0000969	Edema	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent		217
HP:0012337	HP:0001945	Fever	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0012337	HP:0000969	Edema	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0012337	HP:0001945	Fever	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0012337	HP:0001945	Fever	2	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.		217
HP:0012337	HP:0001945	Fever	2	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0012337	HP:0001944	Dehydration	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0012337	HP:0001945	Fever	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040281 - Very frequent		217
HP:0012337	HP:0001945	Fever	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0012337	HP:0001945	Fever	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional		217
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency			13
HP:0012337	HP:0000969	Edema	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0012337	HP:0000969	Edema	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0012337	HP:0001945	Fever	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent		187
HP:0012337	HP:0001945	Fever	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012337	HP:0005968	Temperature instability	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012337	HP:0005968	Temperature instability	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0012337	HP:0001952	Glucose intolerance	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0012337	HP:0005968	Temperature instability	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0012337	HP:0005968	Temperature instability	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0012337	HP:0001952	Glucose intolerance	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0012337	HP:0000969	Edema	2	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22			4
HP:0012337	HP:0000969	Edema	2	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.		8
HP:0012337	HP:0001941	Acidosis	2	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0012337	HP:0001952	Glucose intolerance	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy			144
HP:0012337	HP:0000842	Hyperinsulinemia	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012337	HP:0005968	Temperature instability	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012337	HP:0000969	Edema	2	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		241
HP:0012337	HP:0001945	Fever	2	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		241
HP:0012337	HP:0000969	Edema	2	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.		241
HP:0012337	HP:0000969	Edema	2	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		69
HP:0012337	HP:0001945	Fever	2	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		69
HP:0012337	HP:0000969	Edema	2	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.		69
HP:0012337	HP:0001945	Fever	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0012337	HP:0001952	Glucose intolerance	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0012337	HP:0001944	Dehydration	2	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.		48
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	NR0B2 CL E G H	8431	7961	OMIM:601665	OBESITY	.		4
HP:0012337	HP:0000969	Edema	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0000969	Edema	2	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.		58
HP:0012337	HP:0000842	Hyperinsulinemia	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		58
HP:0012337	HP:0001952	Glucose intolerance	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0012337	HP:0000969	Edema	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0012337	HP:0001952	Glucose intolerance	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0012337	HP:0001948	Alkalosis	2	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome			79
HP:0012337	HP:0001948	Alkalosis	2	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized			79
HP:0012337	HP:0001941	Acidosis	2	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant			109
HP:0012337	HP:0001944	Dehydration	2	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.		109
HP:0012337	HP:0000969	Edema	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0012337	HP:0000969	Edema	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6	.		102
HP:0012337	HP:0000842	Hyperinsulinemia	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		30
HP:0012337	HP:0001952	Glucose intolerance	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0012337	HP:0000969	Edema	2	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0012337	HP:0000969	Edema	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012337	HP:0001952	Glucose intolerance	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012337	HP:0000969	Edema	2	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0012337	HP:0000855	Insulin resistance	2	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0012337	HP:0001952	Glucose intolerance	2	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0012337	HP:0000855	Insulin resistance	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0012337	HP:0001952	Glucose intolerance	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.		2
HP:0012337	HP:0001941	Acidosis	2	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012337	HP:0001945	Fever	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4			97
HP:0012337	HP:0002045	Hypothermia	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040284 - Very rare		97
HP:0012337	HP:0001945	Fever	2	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis			97
HP:0012337	HP:0001941	Acidosis	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012337	HP:0001952	Glucose intolerance	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0012337	HP:0001945	Fever	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0012337	HP:0000969	Edema	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0012337	HP:0000969	Edema	2	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		5
HP:0012337	HP:0001945	Fever	2	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		5
HP:0012337	HP:0000969	Edema	2	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0001945	Fever	2	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0000969	Edema	2	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0001945	Fever	2	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0000969	Edema	2	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		5
HP:0012337	HP:0001945	Fever	2	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		5
HP:0012337	HP:0002046	Heat intolerance	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		121
HP:0012337	HP:0000969	Edema	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0012337	HP:0001952	Glucose intolerance	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0012337	HP:0000969	Edema	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0012337	HP:0001952	Glucose intolerance	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0012337	HP:0000969	Edema	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0012337	HP:0001952	Glucose intolerance	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0012337	HP:0001941	Acidosis	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0012337	HP:0000969	Edema	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0012337	HP:0001941	Acidosis	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0012337	HP:0001944	Dehydration	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012337	HP:0000969	Edema	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0012337	HP:0000842	Hyperinsulinemia	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		201
HP:0012337	HP:0001952	Glucose intolerance	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0012337	HP:0001941	Acidosis	2	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012337	HP:0001952	Glucose intolerance	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0012337	HP:0001952	Glucose intolerance	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0012337	HP:0001945	Fever	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0012337	HP:0002046	Heat intolerance	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.		19
HP:0012337	HP:0000969	Edema	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency			369
HP:0012337	HP:0000969	Edema	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012337	HP:0001948	Alkalosis	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to			369
HP:0012337	HP:0000969	Edema	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012337	HP:0001945	Fever	2	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0012337	HP:0001952	Glucose intolerance	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0012337	HP:0000969	Edema	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0012337	HP:0001941	Acidosis	2	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency			52
HP:0012337	HP:0001945	Fever	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		3
HP:0012337	HP:0001945	Fever	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0012337	HP:0002045	Hypothermia	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012337	HP:0001952	Glucose intolerance	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0012337	HP:0001952	Glucose intolerance	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0012337	HP:0000842	Hyperinsulinemia	2	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0012337	HP:0001952	Glucose intolerance	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0012337	HP:0000969	Edema	2	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		39
HP:0012337	HP:0001945	Fever	2	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		39
HP:0012337	HP:0000969	Edema	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	HP:0040283 - Occasional		39
HP:0012337	HP:0000969	Edema	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012337	HP:0001941	Acidosis	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012337	HP:0000855	Insulin resistance	2	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.		55
HP:0012337	HP:0001941	Acidosis	2	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0012337	HP:0001952	Glucose intolerance	2	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0012337	HP:0000855	Insulin resistance	2	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		55
HP:0012337	HP:0001952	Glucose intolerance	2	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent			55
HP:0012337	HP:0001952	Glucose intolerance	2	PAX4 CL E G H	5078	8618	OMIM:612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9			55
HP:0012337	HP:0000842	Hyperinsulinemia	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0000855	Insulin resistance	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0001952	Glucose intolerance	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent		55
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0001952	Glucose intolerance	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0012337	HP:0031883	Increased proinsulin:insulin ratio	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0012337	HP:0002045	Hypothermia	2	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0012337	HP:0000969	Edema	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012337	HP:0001941	Acidosis	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012337	HP:0001941	Acidosis	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012337	HP:0000842	Hyperinsulinemia	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0012337	HP:0001952	Glucose intolerance	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0001952	Glucose intolerance	2	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency			24
HP:0012337	HP:0001941	Acidosis	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0012337	HP:0001944	Dehydration	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0012337	HP:0001941	Acidosis	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0012337	HP:0001944	Dehydration	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0012337	HP:0001941	Acidosis	2	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0012337	HP:0005959	Impaired gluconeogenesis	2	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0012337	HP:0005959	Impaired gluconeogenesis	2	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial	.		6
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial			6
HP:0012337	HP:0001952	Glucose intolerance	2	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0012337	HP:0000842	Hyperinsulinemia	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional		65
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency			65
HP:0012337	HP:0001952	Glucose intolerance	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0012337	HP:0001952	Glucose intolerance	2	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance			113
HP:0012337	HP:0001952	Glucose intolerance	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance			113
HP:0012337	HP:0000842	Hyperinsulinemia	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		116
HP:0012337	HP:0001952	Glucose intolerance	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0012337	HP:0000842	Hyperinsulinemia	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		126
HP:0012337	HP:0001952	Glucose intolerance	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0012337	HP:0000842	Hyperinsulinemia	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		18
HP:0012337	HP:0001952	Glucose intolerance	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0012337	HP:0000969	Edema	2	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0012337	HP:0001952	Glucose intolerance	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0012337	HP:0001941	Acidosis	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		88
HP:0012337	HP:0001941	Acidosis	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0012337	HP:0001941	Acidosis	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0012337	HP:0001941	Acidosis	2	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0012337	HP:0001941	Acidosis	2	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0012337	HP:0001941	Acidosis	2	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency			98
HP:0012337	HP:0001941	Acidosis	2	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0012337	HP:0001941	Acidosis	2	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012337	HP:0001941	Acidosis	2	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency			52
HP:0012337	HP:0001941	Acidosis	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0012337	HP:0000969	Edema	2	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.		54
HP:0012337	HP:0001941	Acidosis	2	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3			54
HP:0012337	HP:0000969	Edema	2	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0001941	Acidosis	2	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0000855	Insulin resistance	2	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		30
HP:0012337	HP:0001952	Glucose intolerance	2	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent			30
HP:0012337	HP:0000855	Insulin resistance	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0001944	Dehydration	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0012337	HP:0001952	Glucose intolerance	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0001952	Glucose intolerance	2	PDX1 CL E G H	3651	6107	OMIM:606392	Maturity-onset diabetes of the young, type 4			30
HP:0012337	HP:0000842	Hyperinsulinemia	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0000855	Insulin resistance	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0001952	Glucose intolerance	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent		30
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0000855	Insulin resistance	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0012337	HP:0001952	Glucose intolerance	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0012337	HP:0001944	Dehydration	2	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0012337	HP:0001941	Acidosis	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		6
HP:0012337	HP:0001941	Acidosis	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0001941	Acidosis	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012337	HP:0001952	Glucose intolerance	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0012337	HP:0001952	Glucose intolerance	2	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0012337	HP:0000969	Edema	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0012337	HP:0000969	Edema	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0012337	HP:0001952	Glucose intolerance	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0012337	HP:0001945	Fever	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0012337	HP:0002047	Malignant hyperthermia	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012337	HP:0000969	Edema	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0012337	HP:0001941	Acidosis	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012337	HP:0001941	Acidosis	2	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0012337	HP:0001941	Acidosis	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0012337	HP:0001941	Acidosis	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012337	HP:0001941	Acidosis	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012337	HP:0001952	Glucose intolerance	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0012337	HP:0000969	Edema	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0012337	HP:0000969	Edema	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012337	HP:0000969	Edema	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012337	HP:0001941	Acidosis	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0012337	HP:0000969	Edema	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0012337	HP:0000969	Edema	2	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth			162
HP:0012337	HP:0000969	Edema	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0012337	HP:0001945	Fever	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0012337	HP:0001944	Dehydration	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		43
HP:0012337	HP:0001945	Fever	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		43
HP:0012337	HP:0000855	Insulin resistance	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0012337	HP:0000855	Insulin resistance	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0012337	HP:0001952	Glucose intolerance	2	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome			43
HP:0012337	HP:0001952	Glucose intolerance	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0012337	HP:0001941	Acidosis	2	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012337	HP:0001945	Fever	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0012337	HP:0001944	Dehydration	2	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0012337	HP:0000969	Edema	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0012337	HP:0000969	Edema	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0012337	HP:0005968	Temperature instability	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0012337	HP:0000969	Edema	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0012337	HP:0000969	Edema	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0012337	HP:0000855	Insulin resistance	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0001944	Dehydration	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0012337	HP:0001952	Glucose intolerance	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0000855	Insulin resistance	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001941	Acidosis	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001944	Dehydration	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0012337	HP:0001952	Glucose intolerance	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001952	Glucose intolerance	2	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0012337	HP:0000969	Edema	2	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		118
HP:0012337	HP:0001945	Fever	2	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		118
HP:0012337	HP:0000969	Edema	2	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.		118
HP:0012337	HP:0000969	Edema	2	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0012337	HP:0005968	Temperature instability	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0012337	HP:0000969	Edema	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0012337	HP:0000969	Edema	2	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4			11
HP:0012337	HP:0000855	Insulin resistance	2	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0012337	HP:0001952	Glucose intolerance	2	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0012337	HP:0000842	Hyperinsulinemia	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate		19
HP:0012337	HP:0000855	Insulin resistance	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0012337	HP:0001952	Glucose intolerance	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0012337	HP:0001941	Acidosis	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0012337	HP:0001941	Acidosis	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0012337	HP:0000969	Edema	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0012337	HP:0001941	Acidosis	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0012337	HP:0000969	Edema	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0012337	HP:0001945	Fever	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0012337	HP:0000969	Edema	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0012337	HP:0000842	Hyperinsulinemia	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0012337	HP:0000855	Insulin resistance	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0012337	HP:0000969	Edema	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012337	HP:0001945	Fever	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0012337	HP:0001945	Fever	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0012337	HP:0001941	Acidosis	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0012337	HP:0001941	Acidosis	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0012337	HP:0001952	Glucose intolerance	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0012337	HP:0001952	Glucose intolerance	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0012337	HP:0001952	Glucose intolerance	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0012337	HP:0001952	Glucose intolerance	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0012337	HP:0001941	Acidosis	2	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis			3
HP:0012337	HP:0001941	Acidosis	2	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0012337	HP:0001941	Acidosis	2	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0012337	HP:0001941	Acidosis	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0012337	HP:0001941	Acidosis	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012337	HP:0001952	Glucose intolerance	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0012337	HP:0002046	Heat intolerance	2	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0012337	HP:0002046	Heat intolerance	2	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		6
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012337	HP:0001952	Glucose intolerance	2	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0012337	HP:0000855	Insulin resistance	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0012337	HP:0001952	Glucose intolerance	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0012337	HP:0000969	Edema	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0012337	HP:0001941	Acidosis	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0012337	HP:0001952	Glucose intolerance	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0012337	HP:0001941	Acidosis	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0012337	HP:0001941	Acidosis	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0012337	HP:0001941	Acidosis	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0012337	HP:0001941	Acidosis	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0012337	HP:0001941	Acidosis	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0012337	HP:0001941	Acidosis	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0012337	HP:0000969	Edema	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0012337	HP:0001941	Acidosis	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0012337	HP:0001952	Glucose intolerance	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0012337	HP:0001941	Acidosis	2	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)			45
HP:0012337	HP:0001941	Acidosis	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0012337	HP:0001952	Glucose intolerance	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0012337	HP:0001945	Fever	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0012337	HP:0001952	Glucose intolerance	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012337	HP:0001941	Acidosis	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	POMC CL E G H	5443	9201	OMIM:601665	OBESITY	.		27
HP:0012337	HP:0000842	Hyperinsulinemia	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional		27
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0012337	HP:0000842	Hyperinsulinemia	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		180
HP:0012337	HP:0001952	Glucose intolerance	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0012337	HP:0000969	Edema	2	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0012337	HP:0000969	Edema	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0012337	HP:0001945	Fever	2	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.		2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0012337	HP:0000969	Edema	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0012337	HP:0002045	Hypothermia	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0012337	HP:0000969	Edema	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012337	HP:0001945	Fever	2	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0012337	HP:0001941	Acidosis	2	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0012337	HP:0000842	Hyperinsulinemia	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0012337	HP:0000855	Insulin resistance	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		42
HP:0012337	HP:0001952	Glucose intolerance	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0012337	HP:0000855	Insulin resistance	2	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		42
HP:0012337	HP:0001952	Glucose intolerance	2	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent			42
HP:0012337	HP:0000842	Hyperinsulinemia	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0012337	HP:0000855	Insulin resistance	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0012337	HP:0001952	Glucose intolerance	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	PPARG CL E G H	5468	9236	OMIM:601665	OBESITY	.		42
HP:0012337	HP:0000855	Insulin resistance	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040280 - Obligate		42
HP:0012337	HP:0001952	Glucose intolerance	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0012337	HP:0001941	Acidosis	2	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0012337	HP:0001941	Acidosis	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012337	HP:0001952	Glucose intolerance	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0012337	HP:0000855	Insulin resistance	2	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		12
HP:0012337	HP:0001952	Glucose intolerance	2	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0012337	HP:0000842	Hyperinsulinemia	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		39
HP:0012337	HP:0001952	Glucose intolerance	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0012337	HP:0001941	Acidosis	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0012337	HP:0032368	Acidemia	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0012337	HP:0001941	Acidosis	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0012337	HP:0001945	Fever	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		58
HP:0012337	HP:0000969	Edema	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012337	HP:0001945	Fever	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012337	HP:0001952	Glucose intolerance	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0012337	HP:0001952	Glucose intolerance	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0012337	HP:0000969	Edema	2	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0012337	HP:0001952	Glucose intolerance	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance			134
HP:0012337	HP:0001945	Fever	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0012337	HP:0001952	Glucose intolerance	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma			134
HP:0012337	HP:0000969	Edema	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0012337	HP:0001945	Fever	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional		134
HP:0012337	HP:0001952	Glucose intolerance	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0012337	HP:0000969	Edema	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0012337	HP:0001945	Fever	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0012337	HP:0001945	Fever	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0012337	HP:0001952	Glucose intolerance	2	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome			34
HP:0012337	HP:0001952	Glucose intolerance	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0012337	HP:0000842	Hyperinsulinemia	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		110
HP:0012337	HP:0001952	Glucose intolerance	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0012337	HP:0000969	Edema	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0012337	HP:0002045	Hypothermia	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2			54
HP:0012337	HP:0001941	Acidosis	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012337	HP:0000842	Hyperinsulinemia	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0012337	HP:0001952	Glucose intolerance	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0012337	HP:0000842	Hyperinsulinemia	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		70
HP:0012337	HP:0001952	Glucose intolerance	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0012337	HP:0000969	Edema	2	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0012337	HP:0000842	Hyperinsulinemia	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		2
HP:0012337	HP:0001952	Glucose intolerance	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0000842	Hyperinsulinemia	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		51
HP:0012337	HP:0001952	Glucose intolerance	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0012337	HP:0000842	Hyperinsulinemia	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		94
HP:0012337	HP:0001952	Glucose intolerance	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0012337	HP:0000969	Edema	2	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0012337	HP:0000842	Hyperinsulinemia	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		159
HP:0012337	HP:0001952	Glucose intolerance	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0012337	HP:0000969	Edema	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0012337	HP:0000969	Edema	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0012337	HP:0001952	Glucose intolerance	2	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0012337	HP:0000969	Edema	2	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0012337	HP:0001945	Fever	2	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0012337	HP:0001952	Glucose intolerance	2	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0012337	HP:0001952	Glucose intolerance	2	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0012337	HP:0000969	Edema	2	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0012337	HP:0001945	Fever	2	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0012337	HP:0000969	Edema	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0001945	Fever	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0012337	HP:0005968	Temperature instability	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0012337	HP:0000969	Edema	2	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0012337	HP:0002046	Heat intolerance	2	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional		2
HP:0012337	HP:0001945	Fever	2	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0012337	HP:0000969	Edema	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0001945	Fever	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0001945	Fever	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012337	HP:0001952	Glucose intolerance	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012337	HP:0000969	Edema	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0001945	Fever	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0000969	Edema	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012337	HP:0001945	Fever	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012337	HP:0000969	Edema	2	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0012337	HP:0001945	Fever	2	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040281 - Very frequent		96
HP:0012337	HP:0001952	Glucose intolerance	2	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0012337	HP:0005968	Temperature instability	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012337	HP:0005968	Temperature instability	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0012337	HP:0001952	Glucose intolerance	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0012337	HP:0005968	Temperature instability	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0012337	HP:0005968	Temperature instability	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0012337	HP:0000969	Edema	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0012337	HP:0000969	Edema	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0012337	HP:0001952	Glucose intolerance	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0012337	HP:0000855	Insulin resistance	2	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0012337	HP:0001952	Glucose intolerance	2	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0012337	HP:0000969	Edema	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0012337	HP:0000969	Edema	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0012337	HP:0000855	Insulin resistance	2	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0000969	Edema	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0012337	HP:0000969	Edema	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0012337	HP:0000969	Edema	2	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema			1
HP:0012337	HP:0000969	Edema	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0001945	Fever	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012337	HP:0001941	Acidosis	2	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0012337	HP:0001952	Glucose intolerance	2	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1			3
HP:0012337	HP:0001945	Fever	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent		3
HP:0012337	HP:0000969	Edema	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0012337	HP:0001945	Fever	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		3
HP:0012337	HP:0000969	Edema	2	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0001945	Fever	2	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0000969	Edema	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0012337	HP:0001945	Fever	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0012337	HP:0001945	Fever	2	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional		1
HP:0012337	HP:0001945	Fever	2	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0012337	HP:0000969	Edema	2	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0001945	Fever	2	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		2
HP:0012337	HP:0000969	Edema	2	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.		2
HP:0012337	HP:0001952	Glucose intolerance	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0012337	HP:0001952	Glucose intolerance	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0012337	HP:0001945	Fever	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0012337	HP:0001941	Acidosis	2	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0012337	HP:0001941	Acidosis	2	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0012337	HP:0000842	Hyperinsulinemia	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0012337	HP:0001952	Glucose intolerance	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005968	Temperature instability	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0000842	Hyperinsulinemia	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0012337	HP:0001952	Glucose intolerance	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005968	Temperature instability	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0001941	Acidosis	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0012337	HP:0001945	Fever	2	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C			43
HP:0012337	HP:0000969	Edema	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0001941	Acidosis	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0001945	Fever	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040283 - Occasional		67
HP:0012337	HP:0001945	Fever	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0012337	HP:0001952	Glucose intolerance	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0012337	HP:0001952	Glucose intolerance	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0012337	HP:0000969	Edema	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0012337	HP:0000969	Edema	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0012337	HP:0000969	Edema	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		127
HP:0012337	HP:0001945	Fever	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		127
HP:0012337	HP:0001945	Fever	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent		127
HP:0012337	HP:0000969	Edema	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		50
HP:0012337	HP:0001945	Fever	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		50
HP:0012337	HP:0001945	Fever	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent		50
HP:0012337	HP:0000969	Edema	2	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3			57
HP:0012337	HP:0000969	Edema	2	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0012337	HP:0001945	Fever	2	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0012337	HP:0001945	Fever	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0012337	HP:0001941	Acidosis	2	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0012337	HP:0001941	Acidosis	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0012337	HP:0000969	Edema	2	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0012337	HP:0000969	Edema	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0012337	HP:0000969	Edema	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0012337	HP:0000969	Edema	2	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0012337	HP:0001945	Fever	2	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare		365
HP:0012337	HP:0001941	Acidosis	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012337	HP:0001945	Fever	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012337	HP:0000969	Edema	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012337	HP:0000842	Hyperinsulinemia	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		108
HP:0012337	HP:0001952	Glucose intolerance	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0012337	HP:0000842	Hyperinsulinemia	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0012337	HP:0001952	Glucose intolerance	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0012337	HP:0000969	Edema	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0012337	HP:0000969	Edema	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0012337	HP:0000842	Hyperinsulinemia	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		5
HP:0012337	HP:0001952	Glucose intolerance	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0012337	HP:0000969	Edema	2	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77			5
HP:0012337	HP:0001945	Fever	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0012337	HP:0000969	Edema	2	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2			334
HP:0012337	HP:0001945	Fever	2	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		7
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0012337	HP:0000855	Insulin resistance	2	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0001952	Glucose intolerance	2	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0000969	Edema	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0012337	HP:0000842	Hyperinsulinemia	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		28
HP:0012337	HP:0001952	Glucose intolerance	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0012337	HP:0000969	Edema	2	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0012337	HP:0000842	Hyperinsulinemia	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		107
HP:0012337	HP:0001952	Glucose intolerance	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0012337	HP:0000969	Edema	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0012337	HP:0000969	Edema	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0012337	HP:0000969	Edema	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0012337	HP:0001945	Fever	2	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0012337	HP:0000969	Edema	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0012337	HP:0000969	Edema	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0012337	HP:0000842	Hyperinsulinemia	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		47
HP:0012337	HP:0001952	Glucose intolerance	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0012337	HP:0000969	Edema	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0012337	HP:0001941	Acidosis	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012337	HP:0000969	Edema	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		37
HP:0012337	HP:0001945	Fever	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		37
HP:0012337	HP:0001941	Acidosis	2	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0012337	HP:0001945	Fever	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012337	HP:0001952	Glucose intolerance	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0012337	HP:0001945	Fever	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012337	HP:0001952	Glucose intolerance	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0012337	HP:0001945	Fever	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012337	HP:0001952	Glucose intolerance	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0012337	HP:0000969	Edema	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0012337	HP:0001945	Fever	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0012337	HP:0001945	Fever	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0012337	HP:0001945	Fever	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0012337	HP:0000969	Edema	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome			7
HP:0012337	HP:0000842	Hyperinsulinemia	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		38
HP:0012337	HP:0001952	Glucose intolerance	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0012337	HP:0000842	Hyperinsulinemia	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		111
HP:0012337	HP:0001952	Glucose intolerance	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0012337	HP:0000842	Hyperinsulinemia	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		284
HP:0012337	HP:0001952	Glucose intolerance	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0012337	HP:0000969	Edema	2	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0012337	HP:0000842	Hyperinsulinemia	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		45
HP:0012337	HP:0001952	Glucose intolerance	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0012337	HP:0000842	Hyperinsulinemia	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0012337	HP:0001952	Glucose intolerance	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0012337	HP:0000969	Edema	2	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0012337	HP:0000842	Hyperinsulinemia	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		129
HP:0012337	HP:0001952	Glucose intolerance	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0012337	HP:0000842	Hyperinsulinemia	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		200
HP:0012337	HP:0001952	Glucose intolerance	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0012337	HP:0000969	Edema	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0000969	Edema	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0000969	Edema	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0000969	Edema	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0000969	Edema	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0000969	Edema	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0000969	Edema	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0000969	Edema	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0012337	HP:0000969	Edema	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0012337	HP:0000969	Edema	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0012337	HP:0000969	Edema	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0000969	Edema	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0012337	HP:0000969	Edema	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0012337	HP:0000969	Edema	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0000969	Edema	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0000969	Edema	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012337	HP:0000969	Edema	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0000969	Edema	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0000969	Edema	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0000969	Edema	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012337	HP:0000969	Edema	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0012337	HP:0000969	Edema	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0012337	HP:0000969	Edema	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0012337	HP:0001941	Acidosis	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0012337	HP:0001952	Glucose intolerance	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0012337	HP:0001941	Acidosis	2	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0012337	HP:0001941	Acidosis	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0012337	HP:0001941	Acidosis	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012337	HP:0001952	Glucose intolerance	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0012337	HP:0001952	Glucose intolerance	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0012337	HP:0001952	Glucose intolerance	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0012337	HP:0001945	Fever	2	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		181
HP:0012337	HP:0002047	Malignant hyperthermia	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040284 - Very rare		1200
HP:0012337	HP:0002047	Malignant hyperthermia	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0012337	HP:0002047	Malignant hyperthermia	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	HP:0040283 - Occasional		1200
HP:0012337	HP:0000969	Edema	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0012337	HP:0002047	Malignant hyperthermia	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent		1200
HP:0012337	HP:0001941	Acidosis	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia			1200
HP:0012337	HP:0002047	Malignant hyperthermia	2	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040281 - Very frequent		1200
HP:0012337	HP:0002047	Malignant hyperthermia	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0012337	HP:0001941	Acidosis	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0012337	HP:0001945	Fever	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		1200
HP:0012337	HP:0002047	Malignant hyperthermia	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		1200
HP:0012337	HP:0001941	Acidosis	2	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1			1200
HP:0012337	HP:0002047	Malignant hyperthermia	2	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.		1200
HP:0012337	HP:0000969	Edema	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0012337	HP:0000842	Hyperinsulinemia	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		32
HP:0012337	HP:0001952	Glucose intolerance	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0012337	HP:0001945	Fever	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012337	HP:0001952	Glucose intolerance	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0012337	HP:0000969	Edema	2	SAMHD1 CL E G H	25939	15925	OMIM:614415	Chilblain lupus 2	.		55
HP:0012337	HP:0001948	Alkalosis	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0012337	HP:0001952	Glucose intolerance	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0012337	HP:0001952	Glucose intolerance	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0012337	HP:0000842	Hyperinsulinemia	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent
HP:0012337	HP:0001952	Glucose intolerance	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0000969	Edema	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0012337	HP:0002045	Hypothermia	2	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional		146
HP:0012337	HP:0002045	Hypothermia	2	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional		19
HP:0012337	HP:0000969	Edema	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0012337	HP:0002047	Malignant hyperthermia	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0012337	HP:0000969	Edema	2	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0012337	HP:0002047	Malignant hyperthermia	2	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome	.		1134
HP:0012337	HP:0002045	Hypothermia	2	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional		318
HP:0012337	HP:0012236	Elevated sweat chloride	2	SCNN1A CL E G H	6337	10599	OMIM:613021	Bronchiectasis with or without elevated sweat chloride 2	HP:0040283 - Occasional		67
HP:0012337	HP:0001941	Acidosis	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0012337	HP:0001944	Dehydration	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent		67
HP:0012337	HP:0001945	Fever	2	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		67
HP:0012337	HP:0001948	Alkalosis	2	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3			67
HP:0012337	HP:0001941	Acidosis	2	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive			67
HP:0012337	HP:0001944	Dehydration	2	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.		67
HP:0012337	HP:0012236	Elevated sweat chloride	2	SCNN1B CL E G H	6338	10600	OMIM:211400	Bronchiectasis with or without elevated sweat chloride 1	HP:0040283 - Occasional		61
HP:0012337	HP:0001941	Acidosis	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0012337	HP:0001944	Dehydration	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent		61
HP:0012337	HP:0001945	Fever	2	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		61
HP:0012337	HP:0001948	Alkalosis	2	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1			61
HP:0012337	HP:0001941	Acidosis	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0012337	HP:0001944	Dehydration	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040282 - Frequent		57
HP:0012337	HP:0001945	Fever	2	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional		57
HP:0012337	HP:0001948	Alkalosis	2	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2			57
HP:0012337	HP:0001941	Acidosis	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0012337	HP:0001941	Acidosis	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0012337	HP:0001941	Acidosis	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0012337	HP:0001941	Acidosis	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0012337	HP:0001945	Fever	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	SDC3 CL E G H	9672	10660	OMIM:601665	OBESITY	.		2
HP:0012337	HP:0001941	Acidosis	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		304
HP:0012337	HP:0001941	Acidosis	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0012337	HP:0001941	Acidosis	2	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012337	HP:0001941	Acidosis	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0012337	HP:0001944	Dehydration	2	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0012337	HP:0000842	Hyperinsulinemia	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0012337	HP:0001952	Glucose intolerance	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0000969	Edema	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012337	HP:0001945	Fever	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0012337	HP:0001952	Glucose intolerance	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012337	HP:0001941	Acidosis	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome			47
HP:0012337	HP:0012236	Elevated sweat chloride	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0012337	HP:0000969	Edema	2	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0012337	HP:0000969	Edema	2	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1			64
HP:0012337	HP:0000969	Edema	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012337	HP:0000969	Edema	2	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0012337	HP:0000969	Edema	2	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0012337	HP:0001941	Acidosis	2	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0012337	HP:0000969	Edema	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0012337	HP:0000842	Hyperinsulinemia	2	SH2B1 CL E G H	25970	30417	ORPHA:329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0001945	Fever	2	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			4
HP:0012337	HP:0001945	Fever	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0012337	HP:0001945	Fever	2	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61			2
HP:0012337	HP:0000969	Edema	2	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0012337	HP:0000969	Edema	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0002046	Heat intolerance	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0005968	Temperature instability	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012337	HP:0005968	Temperature instability	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0012337	HP:0001952	Glucose intolerance	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0012337	HP:0005968	Temperature instability	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0012337	HP:0005968	Temperature instability	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0012337	HP:0001941	Acidosis	2	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0012337	HP:0005968	Temperature instability	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0012337	HP:0000842	Hyperinsulinemia	2	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040281 - Very frequent		40
HP:0012337	HP:0001952	Glucose intolerance	2	SIM1 CL E G H	6492	10882	ORPHA:369873	Obesity due to SIM1 deficiency	HP:0040283 - Occasional		40
HP:0012337	HP:0001952	Glucose intolerance	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0012337	HP:0001952	Glucose intolerance	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012337	HP:0005968	Temperature instability	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012337	HP:0005968	Temperature instability	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0012337	HP:0001952	Glucose intolerance	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0012337	HP:0005968	Temperature instability	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0012337	HP:0005968	Temperature instability	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012337	HP:0012236	Elevated sweat chloride	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0012337	HP:0001945	Fever	2	SLC11A1 CL E G H	6556	10907	ORPHA:3389	Tuberculosis	HP:0040282 - Frequent		2
HP:0012337	HP:0001944	Dehydration	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0012337	HP:0001945	Fever	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0012337	HP:0001948	Alkalosis	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012337	HP:0000855	Insulin resistance	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		145
HP:0012337	HP:0001941	Acidosis	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012337	HP:0001945	Fever	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012337	HP:0001948	Alkalosis	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012337	HP:0001948	Alkalosis	2	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012337	HP:0001952	Glucose intolerance	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		145
HP:0012337	HP:0000842	Hyperinsulinemia	2	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0012337	HP:0001941	Acidosis	2	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0012337	HP:0000969	Edema	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0012337	HP:0005968	Temperature instability	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.		2
HP:0012337	HP:0001952	Glucose intolerance	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0012337	HP:0001952	Glucose intolerance	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0012337	HP:0001941	Acidosis	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		110
HP:0012337	HP:0001945	Fever	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	.		110
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria			71
HP:0012337	HP:0001944	Dehydration	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0012337	HP:0000969	Edema	2	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0001945	Fever	2	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0001944	Dehydration	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0012337	HP:0005959	Impaired gluconeogenesis	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0012337	HP:0001941	Acidosis	2	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012337	HP:0001941	Acidosis	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012337	HP:0000969	Edema	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0012337	HP:0000969	Edema	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0012337	HP:0001941	Acidosis	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0012337	HP:0001948	Alkalosis	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0012337	HP:0001941	Acidosis	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0012337	HP:0005968	Temperature instability	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040282 - Frequent		36
HP:0012337	HP:0001941	Acidosis	2	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0012337	HP:0002045	Hypothermia	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional		40
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0001941	Acidosis	2	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012337	HP:0001941	Acidosis	2	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0012337	HP:0001941	Acidosis	2	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0012337	HP:0000969	Edema	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0012337	HP:0001941	Acidosis	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0012337	HP:0001952	Glucose intolerance	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0012337	HP:0001941	Acidosis	2	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0012337	HP:0001941	Acidosis	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012337	HP:0001941	Acidosis	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0012337	HP:0001941	Acidosis	2	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression			1
HP:0012337	HP:0000969	Edema	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0012337	HP:0000969	Edema	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0012337	HP:0001944	Dehydration	2	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0012337	HP:0001948	Alkalosis	2	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0012337	HP:0012236	Elevated sweat chloride	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0012337	HP:0000969	Edema	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0001945	Fever	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0001952	Glucose intolerance	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0001945	Fever	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0012337	HP:0001952	Glucose intolerance	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0012337	HP:0000855	Insulin resistance	2	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		71
HP:0012337	HP:0001952	Glucose intolerance	2	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent			71
HP:0012337	HP:0001941	Acidosis	2	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.		71
HP:0012337	HP:0001941	Acidosis	2	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0012337	HP:0001952	Glucose intolerance	2	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0012337	HP:0000855	Insulin resistance	2	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0012337	HP:0001952	Glucose intolerance	2	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0001941	Acidosis	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0001944	Dehydration	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040283 - Occasional		47
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0000969	Edema	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0012337	HP:0001945	Fever	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare		7
HP:0012337	HP:0000969	Edema	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012337	HP:0001945	Fever	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012337	HP:0000969	Edema	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0012337	HP:0000969	Edema	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0012337	HP:0001952	Glucose intolerance	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012337	HP:0001941	Acidosis	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0012337	HP:0001941	Acidosis	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0012337	HP:0001941	Acidosis	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0012337	HP:0001941	Acidosis	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0012337	HP:0000969	Edema	2	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0012337	HP:0001952	Glucose intolerance	2	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4	.		56
HP:0012337	HP:0001945	Fever	2	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012337	HP:0000969	Edema	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0012337	HP:0001945	Fever	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		109
HP:0012337	HP:0001941	Acidosis	2	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0012337	HP:0001941	Acidosis	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0012337	HP:0000969	Edema	2	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0012337	HP:0000969	Edema	2	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0012337	HP:0001941	Acidosis	2	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0012337	HP:0032065	Abnormal serum bicarbonate concentration	2	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0012337	HP:0001941	Acidosis	2	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0012337	HP:0002045	Hypothermia	2	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0012337	HP:0001944	Dehydration	2	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040281 - Very frequent		74
HP:0012337	HP:0001945	Fever	2	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040284 - Very rare		74
HP:0012337	HP:0001941	Acidosis	2	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0012337	HP:0001944	Dehydration	2	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0012337	HP:0001952	Glucose intolerance	2	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0012337	HP:0001944	Dehydration	2	SLC5A2 CL E G H	6524	11037	ORPHA:69076	Familial renal glucosuria	HP:0040283 - Occasional		41
HP:0012337	HP:0000969	Edema	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0012337	HP:0002045	Hypothermia	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		59
HP:0012337	HP:0012236	Elevated sweat chloride	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0000842	Hyperinsulinemia	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		4
HP:0012337	HP:0001952	Glucose intolerance	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0012337	HP:0001941	Acidosis	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0012337	HP:0012236	Elevated sweat chloride	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0012337	HP:0000969	Edema	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		13
HP:0012337	HP:0001952	Glucose intolerance	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0012337	HP:0000969	Edema	2	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040283 - Occasional		504
HP:0012337	HP:0001945	Fever	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0012337	HP:0000969	Edema	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0012337	HP:0005968	Temperature instability	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0012337	HP:0000969	Edema	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0012337	HP:0000969	Edema	2	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0012337	HP:0001952	Glucose intolerance	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012337	HP:0000969	Edema	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0012337	HP:0000842	Hyperinsulinemia	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0012337	HP:0001952	Glucose intolerance	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005968	Temperature instability	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0000842	Hyperinsulinemia	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0012337	HP:0001952	Glucose intolerance	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005968	Temperature instability	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0000842	Hyperinsulinemia	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		83
HP:0012337	HP:0001952	Glucose intolerance	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0012337	HP:0000969	Edema	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0012337	HP:0001952	Glucose intolerance	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0012337	HP:0000969	Edema	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0012337	HP:0001952	Glucose intolerance	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0012337	HP:0000969	Edema	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0012337	HP:0001952	Glucose intolerance	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0012337	HP:0000969	Edema	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012337	HP:0001941	Acidosis	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0012337	HP:0000969	Edema	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0012337	HP:0000969	Edema	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0012337	HP:0000969	Edema	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0012337	HP:0000969	Edema	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012337	HP:0000969	Edema	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0012337	HP:0001952	Glucose intolerance	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0012337	HP:0001952	Glucose intolerance	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0012337	HP:0000842	Hyperinsulinemia	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		48
HP:0012337	HP:0001952	Glucose intolerance	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0000969	Edema	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0012337	HP:0001952	Glucose intolerance	2	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0012337	HP:0001952	Glucose intolerance	2	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0012337	HP:0000969	Edema	2	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0012337	HP:0001945	Fever	2	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0012337	HP:0001952	Glucose intolerance	2	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0012337	HP:0001952	Glucose intolerance	2	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0012337	HP:0001952	Glucose intolerance	2	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012337	HP:0000969	Edema	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0012337	HP:0001944	Dehydration	2	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0012337	HP:0001944	Dehydration	2	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040283 - Occasional		100
HP:0012337	HP:0000969	Edema	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0012337	HP:0001945	Fever	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0012337	HP:0005968	Temperature instability	2	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0012337	HP:0000969	Edema	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0012337	HP:0000969	Edema	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0012337	HP:0001945	Fever	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		228
HP:0012337	HP:0001945	Fever	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		228
HP:0012337	HP:0000969	Edema	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0012337	HP:0001945	Fever	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		156
HP:0012337	HP:0001945	Fever	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		156
HP:0012337	HP:0000969	Edema	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0001945	Fever	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0001941	Acidosis	2	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0012337	HP:0001984	Intolerance to protein	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0012337	HP:0001945	Fever	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0012337	HP:0001952	Glucose intolerance	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0012337	HP:0001945	Fever	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		1
HP:0012337	HP:0002047	Malignant hyperthermia	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0012337	HP:0002047	Malignant hyperthermia	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0012337	HP:0000969	Edema	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0012337	HP:0005968	Temperature instability	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012337	HP:0005968	Temperature instability	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0012337	HP:0001952	Glucose intolerance	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0012337	HP:0001945	Fever	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0012337	HP:0001952	Glucose intolerance	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0012337	HP:0001941	Acidosis	2	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44			9
HP:0012337	HP:0001945	Fever	2	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0012337	HP:0001945	Fever	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0012337	HP:0001952	Glucose intolerance	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0012337	HP:0001945	Fever	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040283 - Occasional		110
HP:0012337	HP:0000855	Insulin resistance	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0001944	Dehydration	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		110
HP:0012337	HP:0001952	Glucose intolerance	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0000969	Edema	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0012337	HP:0001945	Fever	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0012337	HP:0000969	Edema	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent		2
HP:0012337	HP:0001945	Fever	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent		2
HP:0012337	HP:0000969	Edema	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0012337	HP:0001945	Fever	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0012337	HP:0001945	Fever	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0012337	HP:0001945	Fever	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0012337	HP:0005968	Temperature instability	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012337	HP:0005968	Temperature instability	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0012337	HP:0005968	Temperature instability	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0012337	HP:0005968	Temperature instability	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0012337	HP:0001945	Fever	2	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10			31
HP:0012337	HP:0001945	Fever	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0012337	HP:0001952	Glucose intolerance	2	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0012337	HP:0001952	Glucose intolerance	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0012337	HP:0001945	Fever	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		85
HP:0012337	HP:0000969	Edema	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012337	HP:0001945	Fever	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012337	HP:0012236	Elevated sweat chloride	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0012337	HP:0000969	Edema	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012337	HP:0001941	Acidosis	2	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0012337	HP:0001941	Acidosis	2	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease			1
HP:0012337	HP:0001944	Dehydration	2	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent		1
HP:0012337	HP:0001945	Fever	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		70
HP:0012337	HP:0001945	Fever	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0012337	HP:0001941	Acidosis	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0012337	HP:0032368	Acidemia	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0012337	HP:0001941	Acidosis	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012337	HP:0002045	Hypothermia	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012337	HP:0032368	Acidemia	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0012337	HP:0001941	Acidosis	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0002045	Hypothermia	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0032653	Elevated lactate:pyruvate ratio	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0001952	Glucose intolerance	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0012337	HP:0001941	Acidosis	2	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0012337	HP:0032368	Acidemia	2	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3			8
HP:0012337	HP:0001944	Dehydration	2	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		4
HP:0012337	HP:0000969	Edema	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012337	HP:0001941	Acidosis	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012337	HP:0001941	Acidosis	2	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0012337	HP:0001941	Acidosis	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0012337	HP:0001941	Acidosis	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		73
HP:0012337	HP:0001941	Acidosis	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0012337	HP:0000969	Edema	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012337	HP:0001945	Fever	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012337	HP:0001941	Acidosis	2	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0012337	HP:0001941	Acidosis	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040283 - Occasional		23
HP:0012337	HP:0001941	Acidosis	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012337	HP:0000969	Edema	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040282 - Frequent		34
HP:0012337	HP:0001941	Acidosis	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012337	HP:0001941	Acidosis	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0012337	HP:0001941	Acidosis	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012337	HP:0000969	Edema	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0012337	HP:0001941	Acidosis	2	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0012337	HP:0000969	Edema	2	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0001945	Fever	2	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0002045	Hypothermia	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0012337	HP:0000969	Edema	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0012337	HP:0001945	Fever	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		20
HP:0012337	HP:0001945	Fever	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0012337	HP:0000969	Edema	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated			57
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0012337	HP:0000969	Edema	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0012337	HP:0001944	Dehydration	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		2
HP:0012337	HP:0001945	Fever	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		2
HP:0012337	HP:0000969	Edema	2	TCF4 CL E G H	6925	11634	OMIM:613267	Corneal dystrophy, fuchs endothelial, 3	.		241
HP:0012337	HP:0000969	Edema	2	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0012337	HP:0000969	Edema	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0012337	HP:0001945	Fever	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0012337	HP:0001952	Glucose intolerance	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0012337	HP:0000855	Insulin resistance	2	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		4
HP:0012337	HP:0001952	Glucose intolerance	2	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0012337	HP:0001945	Fever	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent		82
HP:0012337	HP:0005968	Temperature instability	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012337	HP:0005968	Temperature instability	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0012337	HP:0001952	Glucose intolerance	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0012337	HP:0005968	Temperature instability	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0012337	HP:0005968	Temperature instability	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0012337	HP:0000969	Edema	2	TEK CL E G H	7010	11724	OMIM:617272	Glaucoma 3, primary congenital, E	.		78
HP:0012337	HP:0001952	Glucose intolerance	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0012337	HP:0001952	Glucose intolerance	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma			238
HP:0012337	HP:0001952	Glucose intolerance	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0012337	HP:0001945	Fever	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		3
HP:0012337	HP:0001945	Fever	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040282 - Frequent		3
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012337	HP:0000969	Edema	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0012337	HP:0002045	Hypothermia	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		155
HP:0012337	HP:0001944	Dehydration	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	HP:0040283 - Occasional		13
HP:0012337	HP:0012236	Elevated sweat chloride	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0012337	HP:0012236	Elevated sweat chloride	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0012337	HP:0000969	Edema	2	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0012337	HP:0000969	Edema	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0012337	HP:0005968	Temperature instability	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012337	HP:0005968	Temperature instability	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0012337	HP:0001952	Glucose intolerance	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0012337	HP:0005968	Temperature instability	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0012337	HP:0005968	Temperature instability	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0012337	HP:0000969	Edema	2	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby			98
HP:0012337	HP:0001944	Dehydration	2	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040283 - Occasional		98
HP:0012337	HP:0001945	Fever	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040283 - Occasional		80
HP:0012337	HP:0001952	Glucose intolerance	2	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0012337	HP:0000969	Edema	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0012337	HP:0001945	Fever	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		6
HP:0012337	HP:0000969	Edema	2	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0012337	HP:0001941	Acidosis	2	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012337	HP:0001941	Acidosis	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0012337	HP:0001941	Acidosis	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0012337	HP:0001941	Acidosis	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0001952	Glucose intolerance	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0012337	HP:0001952	Glucose intolerance	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0012337	HP:0001941	Acidosis	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0012337	HP:0001941	Acidosis	2	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0012337	HP:0001941	Acidosis	2	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0012337	HP:0001941	Acidosis	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012337	HP:0001952	Glucose intolerance	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0012337	HP:0000969	Edema	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0012337	HP:0000969	Edema	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0012337	HP:0000969	Edema	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0012337	HP:0001945	Fever	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		3
HP:0012337	HP:0000969	Edema	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0012337	HP:0001945	Fever	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		3
HP:0012337	HP:0001945	Fever	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0012337	HP:0001952	Glucose intolerance	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012337	HP:0001941	Acidosis	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012337	HP:0001952	Glucose intolerance	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0012337	HP:0001941	Acidosis	2	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0012337	HP:0001945	Fever	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0012337	HP:0000969	Edema	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0012337	HP:0000969	Edema	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012337	HP:0001941	Acidosis	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0012337	HP:0000969	Edema	2	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency			5
HP:0012337	HP:0001945	Fever	2	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0012337	HP:0000969	Edema	2	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition			44
HP:0012337	HP:0000969	Edema	2	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis			131
HP:0012337	HP:0000969	Edema	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012337	HP:0001945	Fever	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012337	HP:0000969	Edema	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0012337	HP:0001945	Fever	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0012337	HP:0000969	Edema	2	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0012337	HP:0000969	Edema	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0012337	HP:0001952	Glucose intolerance	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0012337	HP:0000842	Hyperinsulinemia	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		61
HP:0012337	HP:0001952	Glucose intolerance	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0012337	HP:0001952	Glucose intolerance	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma			911
HP:0012337	HP:0000969	Edema	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0012337	HP:0001952	Glucose intolerance	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0012337	HP:0001952	Glucose intolerance	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0012337	HP:0000969	Edema	2	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0012337	HP:0001945	Fever	2	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare		911
HP:0012337	HP:0001941	Acidosis	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0012337	HP:0000969	Edema	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0012337	HP:0002045	Hypothermia	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		92
HP:0012337	HP:0000969	Edema	2	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0012337	HP:0000969	Edema	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0012337	HP:0001945	Fever	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		2
HP:0012337	HP:0002047	Malignant hyperthermia	2	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional
HP:0012337	HP:0000969	Edema	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0012337	HP:0002047	Malignant hyperthermia	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0012337	HP:0001945	Fever	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012337	HP:0001952	Glucose intolerance	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0012337	HP:0001945	Fever	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0012337	HP:0000969	Edema	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0012337	HP:0000969	Edema	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0012337	HP:0001945	Fever	2	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0012337	HP:0000969	Edema	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0012337	HP:0000969	Edema	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0012337	HP:0000969	Edema	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0012337	HP:0000969	Edema	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0012337	HP:0001945	Fever	2	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0012337	HP:0000842	Hyperinsulinemia	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0012337	HP:0001952	Glucose intolerance	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0012337	HP:0001952	Glucose intolerance	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0012337	HP:0001941	Acidosis	2	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0012337	HP:0001941	Acidosis	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012337	HP:0001952	Glucose intolerance	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012337	HP:0001941	Acidosis	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0012337	HP:0001941	Acidosis	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0012337	HP:0001941	Acidosis	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0001941	Acidosis	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012337	HP:0001952	Glucose intolerance	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0012337	HP:0001941	Acidosis	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0001941	Acidosis	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0001952	Glucose intolerance	2	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0001941	Acidosis	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0012337	HP:0001941	Acidosis	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0001952	Glucose intolerance	2	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0001941	Acidosis	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0001941	Acidosis	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0001941	Acidosis	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0001941	Acidosis	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0001941	Acidosis	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0001941	Acidosis	2	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers
HP:0012337	HP:0001941	Acidosis	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0001941	Acidosis	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012337	HP:0001941	Acidosis	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0012337	HP:0001941	Acidosis	2	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile
HP:0012337	HP:0001941	Acidosis	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012337	HP:0001945	Fever	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012337	HP:0001941	Acidosis	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001941	Acidosis	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012337	HP:0001945	Fever	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001952	Glucose intolerance	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012337	HP:0001941	Acidosis	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0012337	HP:0001945	Fever	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002045	Hypothermia	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001941	Acidosis	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0001952	Glucose intolerance	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0012337	HP:0000969	Edema	2	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		107
HP:0012337	HP:0001945	Fever	2	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		107
HP:0012337	HP:0000969	Edema	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0012337	HP:0001945	Fever	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0012337	HP:0000969	Edema	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0012337	HP:0001945	Fever	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0012337	HP:0001941	Acidosis	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0012337	HP:0000969	Edema	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0012337	HP:0002045	Hypothermia	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0012337	HP:0000969	Edema	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040284 - Very rare		97
HP:0012337	HP:0002045	Hypothermia	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040284 - Very rare		97
HP:0012337	HP:0000969	Edema	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0012337	HP:0001945	Fever	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040283 - Occasional		2
HP:0012337	HP:0002045	Hypothermia	2	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0012337	HP:0002045	Hypothermia	2	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0000969	Edema	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0000969	Edema	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012337	HP:0001941	Acidosis	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012337	HP:0001952	Glucose intolerance	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0012337	HP:0000842	Hyperinsulinemia	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		41
HP:0012337	HP:0001952	Glucose intolerance	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0012337	HP:0001952	Glucose intolerance	2	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0012337	HP:0000842	Hyperinsulinemia	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		1
HP:0012337	HP:0001952	Glucose intolerance	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0000969	Edema	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040281 - Very frequent		14
HP:0012337	HP:0001941	Acidosis	2	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012337	HP:0000842	Hyperinsulinemia	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		66
HP:0012337	HP:0001952	Glucose intolerance	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0012337	HP:0000969	Edema	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0012337	HP:0001941	Acidosis	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0012337	HP:0001952	Glucose intolerance	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0012337	HP:0001941	Acidosis	2	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5			113
HP:0012337	HP:0001941	Acidosis	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0012337	HP:0001952	Glucose intolerance	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0012337	HP:0001941	Acidosis	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0012337	HP:0001941	Acidosis	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0012337	HP:0001941	Acidosis	2	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0012337	HP:0001941	Acidosis	2	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012337	HP:0000969	Edema	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0012337	HP:0001941	Acidosis	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0012337	HP:0001941	Acidosis	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0012337	HP:0001952	Glucose intolerance	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0012337	HP:0001945	Fever	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0012337	HP:0000969	Edema	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0012337	HP:0001945	Fever	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0012337	HP:0002046	Heat intolerance	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0012337	HP:0002046	Heat intolerance	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		278
HP:0012337	HP:0002046	Heat intolerance	2	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		278
HP:0012337	HP:0000969	Edema	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0012337	HP:0000969	Edema	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional		25
HP:0012337	HP:0001952	Glucose intolerance	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0012337	HP:0001952	Glucose intolerance	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0012337	HP:0000842	Hyperinsulinemia	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0012337	HP:0012340	Decreased resting energy expenditure	2	UCP3 CL E G H	7352	12519	OMIM:601665	OBESITY	.		6
HP:0012337	HP:0001945	Fever	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent		116
HP:0012337	HP:0001945	Fever	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0012337	HP:0001944	Dehydration	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0012337	HP:0000969	Edema	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0012337	HP:0001945	Fever	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		5
HP:0012337	HP:0001941	Acidosis	2	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012337	HP:0001941	Acidosis	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012337	HP:0001941	Acidosis	2	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9			6
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9			6
HP:0012337	HP:0001941	Acidosis	2	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3			13
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3			13
HP:0012337	HP:0001941	Acidosis	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012337	HP:0001941	Acidosis	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012337	HP:0002045	Hypothermia	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012337	HP:0001941	Acidosis	2	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0012337	HP:0000969	Edema	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare		31
HP:0012337	HP:0000969	Edema	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		41
HP:0012337	HP:0001952	Glucose intolerance	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0012337	HP:0000969	Edema	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0012337	HP:0000842	Hyperinsulinemia	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		777
HP:0012337	HP:0001952	Glucose intolerance	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0012337	HP:0000969	Edema	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0012337	HP:0001941	Acidosis	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0012337	HP:0000969	Edema	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0012337	HP:0001952	Glucose intolerance	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0012337	HP:0000969	Edema	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0012337	HP:0001952	Glucose intolerance	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0012337	HP:0000969	Edema	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0012337	HP:0001948	Alkalosis	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0012337	HP:0001952	Glucose intolerance	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0012337	HP:0000969	Edema	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0012337	HP:0001952	Glucose intolerance	2	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0012337	HP:0001945	Fever	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0012337	HP:0001952	Glucose intolerance	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0012337	HP:0001945	Fever	2	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0012337	HP:0001952	Glucose intolerance	2	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0012337	HP:0001941	Acidosis	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0012337	HP:0000969	Edema	2	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID			4
HP:0012337	HP:0000969	Edema	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0012337	HP:0001941	Acidosis	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0012337	HP:0005968	Temperature instability	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0012337	HP:0001941	Acidosis	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0012337	HP:0001944	Dehydration	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0012337	HP:0000969	Edema	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012337	HP:0001952	Glucose intolerance	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012337	HP:0000969	Edema	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012337	HP:0000969	Edema	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0012337	HP:0001941	Acidosis	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0012337	HP:0001941	Acidosis	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012337	HP:0001945	Fever	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		65
HP:0012337	HP:0001945	Fever	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome			10
HP:0012337	HP:0000969	Edema	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0012337	HP:0000969	Edema	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0012337	HP:0000969	Edema	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0012337	HP:0000855	Insulin resistance	2	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		389
HP:0012337	HP:0001952	Glucose intolerance	2	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			389
HP:0012337	HP:0001952	Glucose intolerance	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0012337	HP:0001952	Glucose intolerance	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0012337	HP:0001952	Glucose intolerance	2	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040282 - Frequent		389
HP:0012337	HP:0001952	Glucose intolerance	2	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	HP:0040283 - Occasional		389
HP:0012337	HP:0001945	Fever	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent		6
HP:0012337	HP:0001941	Acidosis	2	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC			199
HP:0012337	HP:0001941	Acidosis	2	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB			71
HP:0012337	HP:0000969	Edema	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0012337	HP:0001952	Glucose intolerance	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0012337	HP:0000855	Insulin resistance	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent		310
HP:0012337	HP:0001952	Glucose intolerance	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0012337	HP:0001952	Glucose intolerance	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0012337	HP:0001952	Glucose intolerance	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0012337	HP:0031883	Increased proinsulin:insulin ratio	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0012337	HP:0000969	Edema	2	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040281 - Very frequent		177
HP:0012337	HP:0001945	Fever	2	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional		177
HP:0012337	HP:0001945	Fever	2	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		177
HP:0012337	HP:0001945	Fever	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0012337	HP:0001945	Fever	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0012337	HP:0001945	Fever	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0012337	HP:0001945	Fever	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0012337	HP:0000969	Edema	2	XPNPEP2 CL E G H	7512	12823	OMIM:300909	Acquired angioedema			4
HP:0012337	HP:0000969	Edema	2	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0001952	Glucose intolerance	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0012337	HP:0000855	Insulin resistance	2	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0012337	HP:0001952	Glucose intolerance	2	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0012337	HP:0000855	Insulin resistance	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0012337	HP:0001952	Glucose intolerance	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0012337	HP:0000969	Edema	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0012337	HP:0001941	Acidosis	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012337	HP:0001941	Acidosis	2	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0012337	HP:0001941	Acidosis	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0012337	HP:0001952	Glucose intolerance	2	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0012337	HP:0000842	Hyperinsulinemia	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		7
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0012337	HP:0001945	Fever	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0012337	HP:0001952	Glucose intolerance	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0012337	HP:0000969	Edema	2	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0012337	HP:0000969	Edema	2	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0012337	HP:0000969	Edema	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0012337	HP:0001945	Fever	2	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0012337	HP:0000855	Insulin resistance	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0001944	Dehydration	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.		30
HP:0012337	HP:0001952	Glucose intolerance	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0000855	Insulin resistance	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0001941	Acidosis	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0001944	Dehydration	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0012337	HP:0001952	Glucose intolerance	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0001945	Fever	2	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0012337	HP:0001952	Glucose intolerance	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0012337	HP:0005968	Temperature instability	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012337	HP:0005968	Temperature instability	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0012337	HP:0001952	Glucose intolerance	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0012337	HP:0005968	Temperature instability	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0012337	HP:0005968	Temperature instability	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0012337	HP:0000855	Insulin resistance	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0012337	HP:0000842	Hyperinsulinemia	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0012337	HP:0000855	Insulin resistance	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0012337	HP:0000855	Insulin resistance	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent		83
HP:0012337	HP:0001952	Glucose intolerance	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0012337	HP:0011015	Abnormal blood glucose concentration	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0012337	HP:0000969	Edema	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0012337	HP:0000842	Hyperinsulinemia	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		14
HP:0012337	HP:0001952	Glucose intolerance	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0012337	HP:0000842	Hyperinsulinemia	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040282 - Frequent		27
HP:0012337	HP:0001952	Glucose intolerance	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0012337	HP:0001945	Fever	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012337	HP:0000969	Edema	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012337	HP:0001945	Fever	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012337	HP:0000969	Edema	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012337	HP:0000969	Edema	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0012337	HP:0001952	Glucose intolerance	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0012337	HP:0003571	Propionic acidemia	3	CL E G H
HP:0012337	HP:0004920	Phenylpyruvic acidemia	3	CL E G H
HP:0012337	HP:0010742	Edema of the upper limbs	3	CL E G H
HP:0012337	HP:0031963	Decreased serum anion gap	3	CL E G H
HP:0012337	HP:0032067	Elevated serum bicarbonate concentration	3	CL E G H
HP:0012337	HP:0001942	Metabolic acidosis	3	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0012337	HP:0002151	Increased serum lactate	3	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.		143
HP:0012337	HP:0003128	Lactic acidosis	3	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.		143
HP:0012337	HP:0100598	Pulmonary edema	3	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		147
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040284 - Very rare		111
HP:0012337	HP:0001789	Hydrops fetalis	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0012337	HP:0025533	Peau d'orange	3	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent		245
HP:0012337	HP:0001943	Hypoglycemia	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0012337	HP:0003074	Hyperglycemia	3	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040280 - Obligate		245
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent			245
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012337	HP:0003074	Hyperglycemia	3	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0012337	HP:0001943	Hypoglycemia	3	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0012337	HP:0001943	Hypoglycemia	3	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0003074	Hyperglycemia	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0012337	HP:0001943	Hypoglycemia	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0003074	Hyperglycemia	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent		245
HP:0012337	HP:0040270	Impaired glucose tolerance	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0000819	Diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0001993	Ketoacidosis	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0003074	Hyperglycemia	3	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0012337	HP:0001004	Lymphedema	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0012337	HP:0002912	Methylmalonic acidemia	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.		53
HP:0012337	HP:0001943	Hypoglycemia	3	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0012337	HP:0001943	Hypoglycemia	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0012337	HP:0002151	Increased serum lactate	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0012337	HP:0002181	Cerebral edema	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040283 - Occasional		98
HP:0012337	HP:0003128	Lactic acidosis	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0012337	HP:0001943	Hypoglycemia	3	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0012337	HP:0002181	Cerebral edema	3	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0012337	HP:0003128	Lactic acidosis	3	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0012337	HP:0001942	Metabolic acidosis	3	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0012337	HP:0001943	Hypoglycemia	3	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.		197
HP:0012337	HP:0002181	Cerebral edema	3	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.		197
HP:0012337	HP:0001943	Hypoglycemia	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0012337	HP:0001942	Metabolic acidosis	3	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0012337	HP:0001942	Metabolic acidosis	3	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		90
HP:0012337	HP:0001943	Hypoglycemia	3	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0012337	HP:0001943	Hypoglycemia	3	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.		111
HP:0012337	HP:0001942	Metabolic acidosis	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0012337	HP:0001943	Hypoglycemia	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0001943	Hypoglycemia	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0001993	Ketoacidosis	3	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria			91
HP:0012337	HP:0001942	Metabolic acidosis	3	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040281 - Very frequent		91
HP:0012337	HP:0001943	Hypoglycemia	3	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0012337	HP:0001993	Ketoacidosis	3	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent		91
HP:0012337	HP:0002151	Increased serum lactate	3	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0012337	HP:0003074	Hyperglycemia	3	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0012337	HP:0002151	Increased serum lactate	3	ACAT2 CL E G H	39	94	OMIM:614055	Acetyl-Coa acetyltransferase-2 deficiency	.
HP:0012337	HP:0001386	Joint swelling	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0012337	HP:0001943	Hypoglycemia	3	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0012337	HP:0001993	Ketoacidosis	3	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0012337	HP:0002912	Methylmalonic acidemia	3	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040281 - Very frequent		68
HP:0012337	HP:0040145	Dicarboxylic acidemia	3	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040281 - Very frequent		68
HP:0012337	HP:0001993	Ketoacidosis	3	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.		68
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0012337	HP:0000282	Facial edema	3	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0012337	HP:0010741	Pedal edema	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		208
HP:0012337	HP:0000282	Facial edema	3	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0012337	HP:0000282	Facial edema	3	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0012337	HP:0001954	Recurrent fever	3	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency			75
HP:0012337	HP:0001789	Hydrops fetalis	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0000819	Diabetes mellitus	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012337	HP:0001954	Recurrent fever	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012337	HP:0002151	Increased serum lactate	3	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.		129
HP:0012337	HP:0000282	Facial edema	3	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0012337	HP:0000282	Facial edema	3	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.		1
HP:0012337	HP:0001004	Lymphedema	3	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.		1
HP:0012337	HP:0001004	Lymphedema	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0001789	Hydrops fetalis	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0002202	Pleural effusion	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0012337	HP:0000819	Diabetes mellitus	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0012337	HP:0001955	Unexplained fevers	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0012337	HP:0010880	Increased nuchal translucency	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0012337	HP:0000819	Diabetes mellitus	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0012337	HP:0003074	Hyperglycemia	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0012337	HP:0000819	Diabetes mellitus	3	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0001789	Hydrops fetalis	3	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0003128	Lactic acidosis	3	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		82
HP:0012337	HP:0002151	Increased serum lactate	3	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0012337	HP:0003128	Lactic acidosis	3	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0012337	HP:0001943	Hypoglycemia	3	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0040281 - Very frequent		216
HP:0012337	HP:0001943	Hypoglycemia	3	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0012337	HP:0000819	Diabetes mellitus	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		85
HP:0012337	HP:0000819	Diabetes mellitus	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0012337	HP:0001942	Metabolic acidosis	3	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.		260
HP:0012337	HP:0001942	Metabolic acidosis	3	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040281 - Very frequent		260
HP:0012337	HP:0001789	Hydrops fetalis	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0012337	HP:0000819	Diabetes mellitus	3	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0012337	HP:0000819	Diabetes mellitus	3	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0002151	Increased serum lactate	3	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.		60
HP:0012337	HP:0002151	Increased serum lactate	3	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0012337	HP:0000282	Facial edema	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0012337	HP:0000819	Diabetes mellitus	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0012337	HP:0001386	Joint swelling	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		95
HP:0012337	HP:0040270	Impaired glucose tolerance	3	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0012337	HP:0000819	Diabetes mellitus	3	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0012337	HP:0000819	Diabetes mellitus	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0012337	HP:0001004	Lymphedema	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		54
HP:0012337	HP:0000819	Diabetes mellitus	3	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040282 - Frequent		12
HP:0012337	HP:0000819	Diabetes mellitus	3	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0012337	HP:0001943	Hypoglycemia	3	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0012337	HP:0001943	Hypoglycemia	3	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy			12
HP:0012337	HP:0000282	Facial edema	3	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional		104
HP:0012337	HP:0010741	Pedal edema	3	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent		104
HP:0012337	HP:0001942	Metabolic acidosis	3	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.		35
HP:0012337	HP:0001943	Hypoglycemia	3	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040284 - Very rare		227
HP:0012337	HP:0003128	Lactic acidosis	3	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040284 - Very rare		227
HP:0012337	HP:0001942	Metabolic acidosis	3	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0012337	HP:0001943	Hypoglycemia	3	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0012337	HP:0003128	Lactic acidosis	3	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0012337	HP:0001942	Metabolic acidosis	3	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional		73
HP:0012337	HP:0001943	Hypoglycemia	3	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0012337	HP:0001789	Hydrops fetalis	3	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0012337	HP:0001943	Hypoglycemia	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0012337	HP:0002202	Pleural effusion	3	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012337	HP:0001789	Hydrops fetalis	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent		46
HP:0012337	HP:0001789	Hydrops fetalis	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0012337	HP:0000819	Diabetes mellitus	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0012337	HP:0000819	Diabetes mellitus	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0012337	HP:0001954	Recurrent fever	3	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0012337	HP:0001789	Hydrops fetalis	3	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27	.		89
HP:0012337	HP:0000819	Diabetes mellitus	3	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0012337	HP:0000282	Facial edema	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0012337	HP:0000282	Facial edema	3	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0012337	HP:0100665	Angioedema	3	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	ANGPT1 CL E G H	284	484	OMIM:619361	ANGIOEDEMA, HEREDITARY, 5; HAE5			5
HP:0012337	HP:0001004	Lymphedema	3	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0012337	HP:0000282	Facial edema	3	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0001386	Joint swelling	3	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent		164
HP:0012337	HP:0001386	Joint swelling	3	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0012337	HP:0011134	Low-grade fever	3	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0012337	HP:0000282	Facial edema	3	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0012337	HP:0000282	Facial edema	3	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0012337	HP:0001004	Lymphedema	3	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0012337	HP:0001943	Hypoglycemia	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0012337	HP:0010741	Pedal edema	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0000819	Diabetes mellitus	3	APOA5 CL E G H	116519	17288	OMIM:144650	Hyperlipoproteinemia, type V	.		7
HP:0012337	HP:0000819	Diabetes mellitus	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0012337	HP:0000282	Facial edema	3	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0000819	Diabetes mellitus	3	APPL1 CL E G H	26060	24035	OMIM:616511	Maturity-onset diabetes of the young, type 14	.		2
HP:0012337	HP:0000819	Diabetes mellitus	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0012337	HP:0001943	Hypoglycemia	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0003074	Hyperglycemia	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent		2
HP:0012337	HP:0040270	Impaired glucose tolerance	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0001942	Metabolic acidosis	3	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency			19
HP:0012337	HP:0001955	Unexplained fevers	3	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2	.		75
HP:0012337	HP:0001986	Hypertonic dehydration	3	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0012337	HP:0001986	Hypertonic dehydration	3	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0012337	HP:0000819	Diabetes mellitus	3	AR CL E G H	367	644	ORPHA:481	Kennedy disease			125
HP:0012337	HP:0000282	Facial edema	3	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012337	HP:0000282	Facial edema	3	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0000819	Diabetes mellitus	3	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0012337	HP:0040049	Macular edema	3	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78			6
HP:0012337	HP:0000819	Diabetes mellitus	3	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0000819	Diabetes mellitus	3	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0040049	Macular edema	3	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0012337	HP:0000819	Diabetes mellitus	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0012337	HP:0000819	Diabetes mellitus	3	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0012337	HP:0003074	Hyperglycemia	3	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	.		7
HP:0012337	HP:0000819	Diabetes mellitus	3	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0012337	HP:0001386	Joint swelling	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040281 - Very frequent		78
HP:0012337	HP:0001789	Hydrops fetalis	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0012337	HP:0001954	Recurrent fever	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0012337	HP:0001386	Joint swelling	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0012337	HP:0001954	Recurrent fever	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0012337	HP:0001950	Respiratory alkalosis	3	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0012337	HP:0002181	Cerebral edema	3	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0012337	HP:0001950	Respiratory alkalosis	3	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0012337	HP:0002181	Cerebral edema	3	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0012337	HP:0001943	Hypoglycemia	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	HP:0040283 - Occasional		7
HP:0012337	HP:0002151	Increased serum lactate	3	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0012337	HP:0002151	Increased serum lactate	3	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040282 - Frequent		5
HP:0012337	HP:0002151	Increased serum lactate	3	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0012337	HP:0000819	Diabetes mellitus	3	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040282 - Frequent		3267
HP:0012337	HP:0000819	Diabetes mellitus	3	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0012337	HP:0010880	Increased nuchal translucency	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0012337	HP:0002181	Cerebral edema	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0012337	HP:0002181	Cerebral edema	3	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0012337	HP:0001943	Hypoglycemia	3	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0012337	HP:0001993	Ketoacidosis	3	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0012337	HP:0003128	Lactic acidosis	3	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0012337	HP:0031962	Elevated serum anion gap	3	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012337	HP:0003128	Lactic acidosis	3	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3	.	HP:0003623 - Neonatal onset
HP:0012337	HP:0002151	Increased serum lactate	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040283 - Occasional
HP:0012337	HP:0001942	Metabolic acidosis	3	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0012337	HP:0001942	Metabolic acidosis	3	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness			67
HP:0012337	HP:0001943	Hypoglycemia	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional		192
HP:0012337	HP:0001386	Joint swelling	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0012337	HP:0010741	Pedal edema	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0012337	HP:0002151	Increased serum lactate	3	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.		32
HP:0012337	HP:0000819	Diabetes mellitus	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		169
HP:0012337	HP:0040270	Impaired glucose tolerance	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0012337	HP:0010741	Pedal edema	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0012337	HP:0001943	Hypoglycemia	3	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional		49
HP:0012337	HP:0001942	Metabolic acidosis	3	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.		49
HP:0012337	HP:0001955	Unexplained fevers	3	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0012337	HP:0001986	Hypertonic dehydration	3	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0012337	HP:0001986	Hypertonic dehydration	3	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0012337	HP:0002202	Pleural effusion	3	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040281 - Very frequent		184
HP:0012337	HP:0000282	Facial edema	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0012337	HP:0000819	Diabetes mellitus	3	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0012337	HP:0000819	Diabetes mellitus	3	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0012337	HP:0000819	Diabetes mellitus	3	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0012337	HP:0003074	Hyperglycemia	3	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0012337	HP:0001954	Recurrent fever	3	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent		8
HP:0012337	HP:0001943	Hypoglycemia	3	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0012337	HP:0002181	Cerebral edema	3	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0012337	HP:0003128	Lactic acidosis	3	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0012337	HP:0001943	Hypoglycemia	3	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0012337	HP:0002181	Cerebral edema	3	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0012337	HP:0003128	Lactic acidosis	3	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0012337	HP:0001004	Lymphedema	3	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		1
HP:0012337	HP:0002202	Pleural effusion	3	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		1
HP:0012337	HP:0001004	Lymphedema	3	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		1
HP:0012337	HP:0002202	Pleural effusion	3	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		1
HP:0012337	HP:0000282	Facial edema	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001942	Metabolic acidosis	3	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0012337	HP:0003128	Lactic acidosis	3	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0012337	HP:0003128	Lactic acidosis	3	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0012337	HP:0012468	Chronic acidosis	3	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0012337	HP:0001942	Metabolic acidosis	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0012337	HP:0001943	Hypoglycemia	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0012337	HP:0002151	Increased serum lactate	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0012337	HP:0003074	Hyperglycemia	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0003128	Lactic acidosis	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0012337	HP:0000819	Diabetes mellitus	3	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0012337	HP:0000819	Diabetes mellitus	3	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.		75
HP:0012337	HP:0000819	Diabetes mellitus	3	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0012337	HP:0001943	Hypoglycemia	3	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0003074	Hyperglycemia	3	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent		75
HP:0012337	HP:0040270	Impaired glucose tolerance	3	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0000819	Diabetes mellitus	3	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0012337	HP:0000819	Diabetes mellitus	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0012337	HP:0000819	Diabetes mellitus	3	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0012337	HP:0002202	Pleural effusion	3	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0012337	HP:0000819	Diabetes mellitus	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0012337	HP:0001386	Joint swelling	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0012337	HP:0003074	Hyperglycemia	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0012337	HP:0010880	Increased nuchal translucency	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0012337	HP:0003128	Lactic acidosis	3	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0012337	HP:0001004	Lymphedema	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		276
HP:0012337	HP:0000819	Diabetes mellitus	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0012337	HP:0000819	Diabetes mellitus	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		276
HP:0012337	HP:0040270	Impaired glucose tolerance	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0012337	HP:0010741	Pedal edema	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0012337	HP:0001004	Lymphedema	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0012337	HP:0002202	Pleural effusion	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0012337	HP:0000819	Diabetes mellitus	3	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		5769
HP:0012337	HP:0000819	Diabetes mellitus	3	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		7642
HP:0012337	HP:0010880	Increased nuchal translucency	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		105
HP:0012337	HP:0000819	Diabetes mellitus	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012337	HP:0001789	Hydrops fetalis	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012337	HP:0200114	Metabolic alkalosis	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012337	HP:0005977	Hypochloremic metabolic alkalosis	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012337	HP:0200114	Metabolic alkalosis	3	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0012337	HP:0001942	Metabolic acidosis	3	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0012337	HP:0001993	Ketoacidosis	3	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0012337	HP:0001942	Metabolic acidosis	3	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0012337	HP:0001993	Ketoacidosis	3	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0012337	HP:0001386	Joint swelling	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0012337	HP:0002202	Pleural effusion	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		1
HP:0012337	HP:0002202	Pleural effusion	3	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		5
HP:0012337	HP:0010880	Increased nuchal translucency	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		76
HP:0012337	HP:0010880	Increased nuchal translucency	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0000282	Facial edema	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001942	Metabolic acidosis	3	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0012337	HP:0002151	Increased serum lactate	3	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0012337	HP:0001954	Recurrent fever	3	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0012337	HP:0001954	Recurrent fever	3	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive			92
HP:0012337	HP:0002202	Pleural effusion	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0012337	HP:0001986	Hypertonic dehydration	3	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated			4
HP:0012337	HP:0001942	Metabolic acidosis	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012337	HP:0001942	Metabolic acidosis	3	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0012337	HP:0000819	Diabetes mellitus	3	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0012337	HP:0001942	Metabolic acidosis	3	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.		10
HP:0012337	HP:0001943	Hypoglycemia	3	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.		10
HP:0012337	HP:0001950	Respiratory alkalosis	3	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.		10
HP:0012337	HP:0001993	Ketoacidosis	3	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.		10
HP:0012337	HP:0002151	Increased serum lactate	3	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.		10
HP:0012337	HP:0003128	Lactic acidosis	3	CA5A CL E G H	763	1377	OMIM:615751	Hyperammonemia due to carbonic anhydrase VA deficiency	.		10
HP:0012337	HP:0002181	Cerebral edema	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0012337	HP:0001943	Hypoglycemia	3	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0012337	HP:0200114	Metabolic alkalosis	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.		51
HP:0012337	HP:0200114	Metabolic alkalosis	3	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent		51
HP:0012337	HP:0003074	Hyperglycemia	3	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0012337	HP:0001942	Metabolic acidosis	3	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		247
HP:0012337	HP:0003074	Hyperglycemia	3	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0012337	HP:0001942	Metabolic acidosis	3	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50			10
HP:0012337	HP:0001789	Hydrops fetalis	3	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0012337	HP:0002202	Pleural effusion	3	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0012337	HP:0007430	Generalized edema	3	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0012337	HP:0011134	Low-grade fever	3	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		1
HP:0012337	HP:0001943	Hypoglycemia	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0003128	Lactic acidosis	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0000282	Facial edema	3	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0012337	HP:0000282	Facial edema	3	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0012337	HP:0000819	Diabetes mellitus	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012337	HP:0001789	Hydrops fetalis	3	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0012337	HP:0002151	Increased serum lactate	3	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0012337	HP:0002151	Increased serum lactate	3	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	HP:0040283 - Occasional		35
HP:0012337	HP:0001789	Hydrops fetalis	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		87
HP:0012337	HP:0000819	Diabetes mellitus	3	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		272
HP:0012337	HP:0000819	Diabetes mellitus	3	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia			5
HP:0012337	HP:0000819	Diabetes mellitus	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		11
HP:0012337	HP:0000819	Diabetes mellitus	3	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0012337	HP:0000819	Diabetes mellitus	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0012337	HP:0002202	Pleural effusion	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0012337	HP:0040270	Impaired glucose tolerance	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0012337	HP:0000819	Diabetes mellitus	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		48
HP:0012337	HP:0001004	Lymphedema	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		317
HP:0012337	HP:0001004	Lymphedema	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	HP:0040283 - Occasional		317
HP:0012337	HP:0002202	Pleural effusion	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0012337	HP:0000282	Facial edema	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0012337	HP:0001004	Lymphedema	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0012337	HP:0002202	Pleural effusion	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0012337	HP:0001004	Lymphedema	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		147
HP:0012337	HP:0001789	Hydrops fetalis	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0012337	HP:0002202	Pleural effusion	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0012337	HP:0000819	Diabetes mellitus	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0012337	HP:0001386	Joint swelling	3	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0012337	HP:0001386	Joint swelling	3	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040281 - Very frequent
HP:0012337	HP:0002202	Pleural effusion	3	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040284 - Very rare		1
HP:0012337	HP:0040049	Macular edema	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0012337	HP:0002202	Pleural effusion	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012337	HP:0001386	Joint swelling	3	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0001386	Joint swelling	3	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0012337	HP:0011134	Low-grade fever	3	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0012337	HP:0000282	Facial edema	3	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0012337	HP:0002912	Methylmalonic acidemia	3	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT			16
HP:0012337	HP:0002202	Pleural effusion	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0012337	HP:0100598	Pulmonary edema	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0012337	HP:0007430	Generalized edema	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		39
HP:0012337	HP:0007430	Generalized edema	3	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0012337	HP:0001954	Recurrent fever	3	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0012337	HP:0001789	Hydrops fetalis	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0012337	HP:0001004	Lymphedema	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0012337	HP:0001004	Lymphedema	3	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0012337	HP:0000282	Facial edema	3	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0012337	HP:0000819	Diabetes mellitus	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		636
HP:0012337	HP:0040270	Impaired glucose tolerance	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0012337	HP:0010741	Pedal edema	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0012337	HP:0000819	Diabetes mellitus	3	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0012337	HP:0001004	Lymphedema	3	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0012337	HP:0001943	Hypoglycemia	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0012337	HP:0001943	Hypoglycemia	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0012337	HP:0000819	Diabetes mellitus	3	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0012337	HP:0000819	Diabetes mellitus	3	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		289
HP:0012337	HP:0000819	Diabetes mellitus	3	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0012337	HP:0001943	Hypoglycemia	3	CDON CL E G H	50937	17104	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		200
HP:0012337	HP:0001954	Recurrent fever	3	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain	.		3
HP:0012337	HP:0000819	Diabetes mellitus	3	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0012337	HP:0000819	Diabetes mellitus	3	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0012337	HP:0001943	Hypoglycemia	3	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0003074	Hyperglycemia	3	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent		25
HP:0012337	HP:0040270	Impaired glucose tolerance	3	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0000819	Diabetes mellitus	3	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0012337	HP:0001004	Lymphedema	3	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9			13
HP:0012337	HP:0000819	Diabetes mellitus	3	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		17
HP:0012337	HP:0000819	Diabetes mellitus	3	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0012337	HP:0000819	Diabetes mellitus	3	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0002202	Pleural effusion	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0012337	HP:0100598	Pulmonary edema	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0012337	HP:0007430	Generalized edema	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		86
HP:0012337	HP:0002202	Pleural effusion	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0012337	HP:0100598	Pulmonary edema	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0012337	HP:0007430	Generalized edema	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		57
HP:0012337	HP:0000819	Diabetes mellitus	3	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		1371
HP:0012337	HP:0000819	Diabetes mellitus	3	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0012337	HP:0002202	Pleural effusion	3	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0012337	HP:0002151	Increased serum lactate	3	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent		11
HP:0012337	HP:0002151	Increased serum lactate	3	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.		11
HP:0012337	HP:0001386	Joint swelling	3	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		833
HP:0012337	HP:0001943	Hypoglycemia	3	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012337	HP:0000819	Diabetes mellitus	3	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent		8
HP:0012337	HP:0000819	Diabetes mellitus	3	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0012337	HP:0001993	Ketoacidosis	3	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0012337	HP:0001386	Joint swelling	3	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0012337	HP:0000819	Diabetes mellitus	3	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent		3
HP:0012337	HP:0000819	Diabetes mellitus	3	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2			3
HP:0012337	HP:0010741	Pedal edema	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		5
HP:0012337	HP:0200114	Metabolic alkalosis	3	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional		44
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012337	HP:0200114	Metabolic alkalosis	3	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012337	HP:0005977	Hypochloremic metabolic alkalosis	3	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012337	HP:0200114	Metabolic alkalosis	3	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0012337	HP:0200114	Metabolic alkalosis	3	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012337	HP:0200114	Metabolic alkalosis	3	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012337	HP:0005977	Hypochloremic metabolic alkalosis	3	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012337	HP:0000819	Diabetes mellitus	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012337	HP:0001942	Metabolic acidosis	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012337	HP:0001993	Ketoacidosis	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0012337	HP:0200114	Metabolic alkalosis	3	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		27
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012337	HP:0200114	Metabolic alkalosis	3	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0012337	HP:0001942	Metabolic acidosis	3	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0012337	HP:0000282	Facial edema	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001942	Metabolic acidosis	3	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome			7
HP:0012337	HP:0001943	Hypoglycemia	3	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0012337	HP:0002151	Increased serum lactate	3	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0012337	HP:0001943	Hypoglycemia	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0002151	Increased serum lactate	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0000819	Diabetes mellitus	3	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0012337	HP:0000819	Diabetes mellitus	3	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.		1
HP:0012337	HP:0000819	Diabetes mellitus	3	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0012337	HP:0000819	Diabetes mellitus	3	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0012337	HP:0000819	Diabetes mellitus	3	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0012337	HP:0000819	Diabetes mellitus	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0012337	HP:0001942	Metabolic acidosis	3	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0012337	HP:0003128	Lactic acidosis	3	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0012337	HP:0001942	Metabolic acidosis	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0012337	HP:0003128	Lactic acidosis	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0012337	HP:0025533	Peau d'orange	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0012337	HP:0001954	Recurrent fever	3	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent		71
HP:0012337	HP:0001954	Recurrent fever	3	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0012337	HP:0001943	Hypoglycemia	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0012337	HP:0001943	Hypoglycemia	3	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional		39
HP:0012337	HP:0001789	Hydrops fetalis	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0012337	HP:0000282	Facial edema	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012337	HP:0001386	Joint swelling	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0012337	HP:0001789	Hydrops fetalis	3	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0012337	HP:0001789	Hydrops fetalis	3	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0012337	HP:0001789	Hydrops fetalis	3	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0012337	HP:0010741	Pedal edema	3	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional		284
HP:0012337	HP:0001789	Hydrops fetalis	3	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0012337	HP:0000819	Diabetes mellitus	3	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0012337	HP:0000282	Facial edema	3	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0012337	HP:0000282	Facial edema	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012337	HP:0001386	Joint swelling	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0012337	HP:0000282	Facial edema	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012337	HP:0001386	Joint swelling	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0012337	HP:0012040	Corneal stromal edema	3	COL8A2 CL E G H	1296	2216	OMIM:136800	Corneal dystrophy, fuchs endothelial, 1	.		3
HP:0012337	HP:0012040	Corneal stromal edema	3	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0012337	HP:0003128	Lactic acidosis	3	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0012337	HP:0001942	Metabolic acidosis	3	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0002151	Increased serum lactate	3	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0012337	HP:0003128	Lactic acidosis	3	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0007430	Generalized edema	3	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0012337	HP:0002151	Increased serum lactate	3	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	.		24
HP:0012337	HP:0002151	Increased serum lactate	3	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional		136
HP:0012337	HP:0003128	Lactic acidosis	3	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional		136
HP:0012337	HP:0003128	Lactic acidosis	3	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.		136
HP:0012337	HP:0000282	Facial edema	3	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0012337	HP:0002151	Increased serum lactate	3	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0012337	HP:0003128	Lactic acidosis	3	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0012337	HP:0000819	Diabetes mellitus	3	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0012337	HP:0000819	Diabetes mellitus	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0001942	Metabolic acidosis	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0001943	Hypoglycemia	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0002151	Increased serum lactate	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0003128	Lactic acidosis	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0001942	Metabolic acidosis	3	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0012337	HP:0002151	Increased serum lactate	3	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0012337	HP:0002151	Increased serum lactate	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0012337	HP:0001943	Hypoglycemia	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0002181	Cerebral edema	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0003128	Lactic acidosis	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0000819	Diabetes mellitus	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0002151	Increased serum lactate	3	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0012337	HP:0000819	Diabetes mellitus	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0002151	Increased serum lactate	3	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012337	HP:0002151	Increased serum lactate	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012337	HP:0002151	Increased serum lactate	3	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012337	HP:0001942	Metabolic acidosis	3	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012337	HP:0002151	Increased serum lactate	3	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012337	HP:0003128	Lactic acidosis	3	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0012337	HP:0002151	Increased serum lactate	3	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0012337	HP:0003128	Lactic acidosis	3	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0012337	HP:0000819	Diabetes mellitus	3	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent		115
HP:0012337	HP:0000819	Diabetes mellitus	3	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0012337	HP:0000819	Diabetes mellitus	3	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		5
HP:0012337	HP:0000819	Diabetes mellitus	3	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012337	HP:0100665	Angioedema	3	CPN1 CL E G H	1369	2312	OMIM:212070	Carboxypeptidase N deficiency	.		2
HP:0012337	HP:0001950	Respiratory alkalosis	3	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0012337	HP:0002181	Cerebral edema	3	CPS1 CL E G H	1373	2323	OMIM:237300	Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to	.		124
HP:0012337	HP:0002181	Cerebral edema	3	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0012337	HP:0001942	Metabolic acidosis	3	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0012337	HP:0001943	Hypoglycemia	3	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040281 - Very frequent		99
HP:0012337	HP:0001942	Metabolic acidosis	3	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0012337	HP:0001943	Hypoglycemia	3	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0012337	HP:0001942	Metabolic acidosis	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional		101
HP:0012337	HP:0001943	Hypoglycemia	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0012337	HP:0001943	Hypoglycemia	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0012337	HP:0001943	Hypoglycemia	3	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0012337	HP:0001943	Hypoglycemia	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0032066	Decreased serum bicarbonate concentration	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0012337	HP:0002181	Cerebral edema	3	CPT2 CL E G H	1376	2330	OMIM:614212	Encephalopathy, acute, infection-induced, susceptibility to, 4	.		101
HP:0012337	HP:0000819	Diabetes mellitus	3	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0012337	HP:0000282	Facial edema	3	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0012337	HP:0001954	Recurrent fever	3	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0012337	HP:0000819	Diabetes mellitus	3	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0012337	HP:0010880	Increased nuchal translucency	3	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0012337	HP:0000819	Diabetes mellitus	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0012337	HP:0001943	Hypoglycemia	3	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040282 - Frequent		17
HP:0012337	HP:0000282	Facial edema	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0012337	HP:0000819	Diabetes mellitus	3	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0012337	HP:0000819	Diabetes mellitus	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0012337	HP:0001004	Lymphedema	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0012337	HP:0040049	Macular edema	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0012337	HP:0000819	Diabetes mellitus	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0001942	Metabolic acidosis	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0001942	Metabolic acidosis	3	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0012337	HP:0001942	Metabolic acidosis	3	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare		178
HP:0012337	HP:0000819	Diabetes mellitus	3	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		39
HP:0012337	HP:0000819	Diabetes mellitus	3	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0012337	HP:0002202	Pleural effusion	3	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0012337	HP:0000819	Diabetes mellitus	3	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012337	HP:0001789	Hydrops fetalis	3	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0012337	HP:0001942	Metabolic acidosis	3	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.		92
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE			92
HP:0012337	HP:0001943	Hypoglycemia	3	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2	.
HP:0012337	HP:0002202	Pleural effusion	3	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0012337	HP:0002202	Pleural effusion	3	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0012337	HP:0001942	Metabolic acidosis	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0001943	Hypoglycemia	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0001993	Ketoacidosis	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.		12
HP:0012337	HP:0002151	Increased serum lactate	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.		12
HP:0012337	HP:0003074	Hyperglycemia	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0003128	Lactic acidosis	3	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.		12
HP:0012337	HP:0001943	Hypoglycemia	3	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0012337	HP:0001943	Hypoglycemia	3	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0012337	HP:0001954	Recurrent fever	3	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.		73
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	.		53
HP:0012337	HP:0000819	Diabetes mellitus	3	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0012337	HP:0001943	Hypoglycemia	3	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.		86
HP:0012337	HP:0001954	Recurrent fever	3	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.		86
HP:0012337	HP:0002151	Increased serum lactate	3	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0012337	HP:0040049	Macular edema	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0012337	HP:0001943	Hypoglycemia	3	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0012337	HP:0100598	Pulmonary edema	3	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0012337	HP:0003128	Lactic acidosis	3	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0012337	HP:0000819	Diabetes mellitus	3	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000282	Facial edema	3	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0002151	Increased serum lactate	3	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional		60
HP:0012337	HP:0001943	Hypoglycemia	3	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent		80
HP:0012337	HP:0001943	Hypoglycemia	3	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0012337	HP:0005964	Intermittent hypothermia	3	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.		80
HP:0012337	HP:0001943	Hypoglycemia	3	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0012337	HP:0002181	Cerebral edema	3	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0012337	HP:0003128	Lactic acidosis	3	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0012337	HP:0000819	Diabetes mellitus	3	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.		87
HP:0012337	HP:0000819	Diabetes mellitus	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0012337	HP:0001004	Lymphedema	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0012337	HP:0005964	Intermittent hypothermia	3	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.		43
HP:0012337	HP:0001386	Joint swelling	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0012337	HP:0001942	Metabolic acidosis	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0001954	Recurrent fever	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0002202	Pleural effusion	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0007430	Generalized edema	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0001943	Hypoglycemia	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0012337	HP:0003128	Lactic acidosis	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0012337	HP:0002151	Increased serum lactate	3	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0012337	HP:0010880	Increased nuchal translucency	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0012337	HP:0000819	Diabetes mellitus	3	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0012337	HP:0040049	Macular edema	3	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0012337	HP:0010880	Increased nuchal translucency	3	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0012337	HP:0000819	Diabetes mellitus	3	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0000819	Diabetes mellitus	3	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0012337	HP:0000819	Diabetes mellitus	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0012337	HP:0003128	Lactic acidosis	3	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0012337	HP:0001942	Metabolic acidosis	3	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.		89
HP:0012337	HP:0001943	Hypoglycemia	3	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.		89
HP:0012337	HP:0001993	Ketoacidosis	3	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0012337	HP:0003128	Lactic acidosis	3	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.		89
HP:0012337	HP:0001943	Hypoglycemia	3	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent		89
HP:0012337	HP:0002151	Increased serum lactate	3	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040281 - Very frequent		89
HP:0012337	HP:0003128	Lactic acidosis	3	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040281 - Very frequent		89
HP:0012337	HP:0000819	Diabetes mellitus	3	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012337	HP:0000819	Diabetes mellitus	3	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012337	HP:0000819	Diabetes mellitus	3	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0012337	HP:0000819	Diabetes mellitus	3	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0012337	HP:0001943	Hypoglycemia	3	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.		3
HP:0012337	HP:0001943	Hypoglycemia	3	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0012337	HP:0001943	Hypoglycemia	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0012337	HP:0002151	Increased serum lactate	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent		25
HP:0012337	HP:0003530	Elevated circulating glutaric acid concentration	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040281 - Very frequent		25
HP:0012337	HP:0000819	Diabetes mellitus	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		5
HP:0012337	HP:0000819	Diabetes mellitus	3	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0012337	HP:0000819	Diabetes mellitus	3	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent		3
HP:0012337	HP:0000282	Facial edema	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002202	Pleural effusion	3	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0012337	HP:0100665	Angioedema	3	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent		3
HP:0012337	HP:0000819	Diabetes mellitus	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012337	HP:0001954	Recurrent fever	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012337	HP:0000819	Diabetes mellitus	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0012337	HP:0002151	Increased serum lactate	3	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		94
HP:0012337	HP:0002151	Increased serum lactate	3	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0012337	HP:0003128	Lactic acidosis	3	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0012337	HP:0001004	Lymphedema	3	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0012337	HP:0000282	Facial edema	3	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0012337	HP:0001954	Recurrent fever	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0012337	HP:0010880	Increased nuchal translucency	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0012337	HP:0007430	Generalized edema	3	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0012337	HP:0001943	Hypoglycemia	3	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0012337	HP:0007430	Generalized edema	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0012337	HP:0001942	Metabolic acidosis	3	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0012337	HP:0033031	Hyperpyrexia	3	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0012337	HP:0002151	Increased serum lactate	3	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0012337	HP:0000282	Facial edema	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		121
HP:0012337	HP:0000282	Facial edema	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		11
HP:0012337	HP:0000819	Diabetes mellitus	3	DUT CL E G H	1854	3078	OMIM:620044
HP:0012337	HP:0000282	Facial edema	3	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0012337	HP:0001789	Hydrops fetalis	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0012337	HP:0001789	Hydrops fetalis	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0012337	HP:0001789	Hydrops fetalis	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0012337	HP:0100748	Muscular edema	3	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional		600
HP:0012337	HP:0002151	Increased serum lactate	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0012337	HP:0003128	Lactic acidosis	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0012337	HP:0001943	Hypoglycemia	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0012337	HP:0002151	Increased serum lactate	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0012337	HP:0002151	Increased serum lactate	3	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.		33
HP:0012337	HP:0000819	Diabetes mellitus	3	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0012337	HP:0000819	Diabetes mellitus	3	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0012337	HP:0000819	Diabetes mellitus	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		1
HP:0012337	HP:0001942	Metabolic acidosis	3	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.		2
HP:0012337	HP:0001942	Metabolic acidosis	3	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0001943	Hypoglycemia	3	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040284 - Very rare		2
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0000819	Diabetes mellitus	3	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0012337	HP:0000819	Diabetes mellitus	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0001993	Ketoacidosis	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0012337	HP:0002202	Pleural effusion	3	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040283 - Occasional		40
HP:0012337	HP:0100598	Pulmonary edema	3	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040283 - Occasional		40
HP:0012337	HP:0010741	Pedal edema	3	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent		40
HP:0012337	HP:0000819	Diabetes mellitus	3	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040283 - Occasional		8
HP:0012337	HP:0001943	Hypoglycemia	3	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0012337	HP:0000282	Facial edema	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0003128	Lactic acidosis	3	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	.		67
HP:0012337	HP:0001954	Recurrent fever	3	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent		79
HP:0012337	HP:0001954	Recurrent fever	3	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2			1
HP:0012337	HP:0000819	Diabetes mellitus	3	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040283 - Occasional		3
HP:0012337	HP:0000282	Facial edema	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012337	HP:0000819	Diabetes mellitus	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0012337	HP:0010880	Increased nuchal translucency	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0012337	HP:0000819	Diabetes mellitus	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0012337	HP:0001954	Recurrent fever	3	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0012337	HP:0000282	Facial edema	3	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0012337	HP:0000819	Diabetes mellitus	3	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent			151
HP:0012337	HP:0001789	Hydrops fetalis	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0012337	HP:0001789	Hydrops fetalis	3	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		6
HP:0012337	HP:0001942	Metabolic acidosis	3	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0012337	HP:0001004	Lymphedema	3	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional		3
HP:0012337	HP:0001789	Hydrops fetalis	3	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0012337	HP:0002202	Pleural effusion	3	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0012337	HP:0000282	Facial edema	3	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0012337	HP:0001004	Lymphedema	3	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0012337	HP:0001789	Hydrops fetalis	3	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0012337	HP:0100598	Pulmonary edema	3	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0012337	HP:0000282	Facial edema	3	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional		3
HP:0012337	HP:0001004	Lymphedema	3	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040281 - Very frequent		3
HP:0012337	HP:0002202	Pleural effusion	3	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional		3
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional		3
HP:0012337	HP:0010741	Pedal edema	3	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent		3
HP:0012337	HP:0012027	Laryngeal edema	3	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional		3
HP:0012337	HP:0012398	Peripheral edema	3	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional		3
HP:0012337	HP:0002202	Pleural effusion	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0012337	HP:0001942	Metabolic acidosis	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0012337	HP:0040270	Impaired glucose tolerance	3	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.		13
HP:0012337	HP:0001943	Hypoglycemia	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0012337	HP:0003530	Elevated circulating glutaric acid concentration	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0012337	HP:0001943	Hypoglycemia	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0012337	HP:0003530	Elevated circulating glutaric acid concentration	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0012337	HP:0001943	Hypoglycemia	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0012337	HP:0003530	Elevated circulating glutaric acid concentration	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0012337	HP:0003128	Lactic acidosis	3	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.		42
HP:0012337	HP:0003128	Lactic acidosis	3	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent		42
HP:0012337	HP:0000819	Diabetes mellitus	3	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0012337	HP:0000282	Facial edema	3	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012337	HP:0100665	Angioedema	3	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012337	HP:0005225	Intestinal edema	3	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012337	HP:0011855	Pharyngeal edema	3	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3			28
HP:0012337	HP:0001386	Joint swelling	3	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional		303
HP:0012337	HP:0001386	Joint swelling	3	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040282 - Frequent		303
HP:0012337	HP:0001942	Metabolic acidosis	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0001943	Hypoglycemia	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0012337	HP:0000819	Diabetes mellitus	3	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0012337	HP:0002151	Increased serum lactate	3	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.		36
HP:0012337	HP:0003128	Lactic acidosis	3	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.		36
HP:0012337	HP:0001943	Hypoglycemia	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012337	HP:0007430	Generalized edema	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012337	HP:0001789	Hydrops fetalis	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		59
HP:0012337	HP:0002202	Pleural effusion	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0012337	HP:0001789	Hydrops fetalis	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		37
HP:0012337	HP:0002151	Increased serum lactate	3	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0012337	HP:0001004	Lymphedema	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0012337	HP:0001004	Lymphedema	3	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0012337	HP:0001004	Lymphedema	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040281 - Very frequent		114
HP:0012337	HP:0001789	Hydrops fetalis	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0012337	HP:0002202	Pleural effusion	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0012337	HP:0000819	Diabetes mellitus	3	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome			1361
HP:0012337	HP:0001942	Metabolic acidosis	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040281 - Very frequent		64
HP:0012337	HP:0001942	Metabolic acidosis	3	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0012337	HP:0001943	Hypoglycemia	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040281 - Very frequent		64
HP:0012337	HP:0001943	Hypoglycemia	3	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0012337	HP:0003128	Lactic acidosis	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040281 - Very frequent		64
HP:0012337	HP:0001942	Metabolic acidosis	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0012337	HP:0002151	Increased serum lactate	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0012337	HP:0003128	Lactic acidosis	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.		384
HP:0012337	HP:0000819	Diabetes mellitus	3	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0012337	HP:0002151	Increased serum lactate	3	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0012337	HP:0001386	Joint swelling	3	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent		47
HP:0012337	HP:0001386	Joint swelling	3	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent		62
HP:0012337	HP:0001943	Hypoglycemia	3	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0012337	HP:0000819	Diabetes mellitus	3	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0012337	HP:0000819	Diabetes mellitus	3	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0012337	HP:0000819	Diabetes mellitus	3	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0012337	HP:0010880	Increased nuchal translucency	3	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent		145
HP:0012337	HP:0010880	Increased nuchal translucency	3	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent		145
HP:0012337	HP:0001386	Joint swelling	3	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia	HP:0040281 - Very frequent		34
HP:0012337	HP:0001942	Metabolic acidosis	3	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0012337	HP:0003128	Lactic acidosis	3	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0012337	HP:0001789	Hydrops fetalis	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0012337	HP:0001789	Hydrops fetalis	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0012337	HP:0010880	Increased nuchal translucency	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0012337	HP:0000282	Facial edema	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001789	Hydrops fetalis	3	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent		233
HP:0012337	HP:0100598	Pulmonary edema	3	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		197
HP:0012337	HP:0012398	Peripheral edema	3	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		197
HP:0012337	HP:0000819	Diabetes mellitus	3	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0012337	HP:0001004	Lymphedema	3	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0012337	HP:0001789	Hydrops fetalis	3	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0012337	HP:0007448	Hyperkeratosis over edematous areas	3	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1	.		90
HP:0012337	HP:0001004	Lymphedema	3	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040281 - Very frequent		90
HP:0012337	HP:0010741	Pedal edema	3	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		90
HP:0012337	HP:0000819	Diabetes mellitus	3	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040283 - Occasional		30
HP:0012337	HP:0010741	Pedal edema	3	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy	HP:0040281 - Very frequent		9
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0001942	Metabolic acidosis	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0001954	Recurrent fever	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0100598	Pulmonary edema	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0012337	HP:0000819	Diabetes mellitus	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent
HP:0012337	HP:0001943	Hypoglycemia	3	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional		20
HP:0012337	HP:0001004	Lymphedema	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0012337	HP:0001004	Lymphedema	3	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0012337	HP:0001789	Hydrops fetalis	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0012337	HP:0002202	Pleural effusion	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0012337	HP:0001789	Hydrops fetalis	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012337	HP:0002202	Pleural effusion	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012337	HP:0000282	Facial edema	3	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012337	HP:0000819	Diabetes mellitus	3	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0012337	HP:0000819	Diabetes mellitus	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0012337	HP:0000819	Diabetes mellitus	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0012337	HP:0000819	Diabetes mellitus	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0012337	HP:0000819	Diabetes mellitus	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		61
HP:0012337	HP:0001943	Hypoglycemia	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0012337	HP:0003128	Lactic acidosis	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0012337	HP:0002151	Increased serum lactate	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0012337	HP:0001943	Hypoglycemia	3	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0012337	HP:0003128	Lactic acidosis	3	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0012337	HP:0000282	Facial edema	3	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0012337	HP:0000282	Facial edema	3	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012337	HP:0000282	Facial edema	3	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012337	HP:0000819	Diabetes mellitus	3	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0012337	HP:0002202	Pleural effusion	3	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040282 - Frequent		50
HP:0012337	HP:0100598	Pulmonary edema	3	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040283 - Occasional		50
HP:0012337	HP:0007430	Generalized edema	3	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040283 - Occasional		50
HP:0012337	HP:0012398	Peripheral edema	3	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040283 - Occasional		50
HP:0012337	HP:0001943	Hypoglycemia	3	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	HP:0040284 - Very rare		3
HP:0012337	HP:0000819	Diabetes mellitus	3	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0012337	HP:0000819	Diabetes mellitus	3	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040283 - Occasional		18
HP:0012337	HP:0000819	Diabetes mellitus	3	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0012337	HP:0001004	Lymphedema	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0012337	HP:0040049	Macular edema	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0012337	HP:0001943	Hypoglycemia	3	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0012337	HP:0003128	Lactic acidosis	3	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0012337	HP:0002202	Pleural effusion	3	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0012337	HP:0003074	Hyperglycemia	3	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0012337	HP:0001955	Unexplained fevers	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		160
HP:0012337	HP:0001954	Recurrent fever	3	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0012337	HP:0001943	Hypoglycemia	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0012337	HP:0001943	Hypoglycemia	3	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional		351
HP:0012337	HP:0001942	Metabolic acidosis	3	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0012337	HP:0000282	Facial edema	3	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0012337	HP:0001789	Hydrops fetalis	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0012337	HP:0001789	Hydrops fetalis	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0012337	HP:0001004	Lymphedema	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent		137
HP:0012337	HP:0001004	Lymphedema	3	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	.		137
HP:0012337	HP:0001942	Metabolic acidosis	3	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0012337	HP:0000819	Diabetes mellitus	3	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040283 - Occasional		83
HP:0012337	HP:0010741	Pedal edema	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		87
HP:0012337	HP:0010741	Pedal edema	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		37
HP:0012337	HP:0000819	Diabetes mellitus	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.		37
HP:0012337	HP:0003074	Hyperglycemia	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.		37
HP:0012337	HP:0000819	Diabetes mellitus	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0012337	HP:0001789	Hydrops fetalis	3	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0001943	Hypoglycemia	3	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0003128	Lactic acidosis	3	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0001789	Hydrops fetalis	3	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0001943	Hypoglycemia	3	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0003128	Lactic acidosis	3	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0001942	Metabolic acidosis	3	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0001943	Hypoglycemia	3	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040284 - Very rare		86
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0001789	Hydrops fetalis	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0012337	HP:0010741	Pedal edema	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0012337	HP:0001789	Hydrops fetalis	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0012337	HP:0001789	Hydrops fetalis	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0012337	HP:0001789	Hydrops fetalis	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0012337	HP:0001942	Metabolic acidosis	3	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115
HP:0012337	HP:0001943	Hypoglycemia	3	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115
HP:0012337	HP:0003530	Elevated circulating glutaric acid concentration	3	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115
HP:0012337	HP:0001943	Hypoglycemia	3	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0012337	HP:0000819	Diabetes mellitus	3	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0012337	HP:0001954	Recurrent fever	3	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.		86
HP:0012337	HP:0000819	Diabetes mellitus	3	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent			237
HP:0012337	HP:0000819	Diabetes mellitus	3	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0012337	HP:0003074	Hyperglycemia	3	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0012337	HP:0000819	Diabetes mellitus	3	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.	HP:0003584 - Late onset	237
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.		237
HP:0012337	HP:0001943	Hypoglycemia	3	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3			237
HP:0012337	HP:0000819	Diabetes mellitus	3	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040281 - Very frequent		237
HP:0012337	HP:0001943	Hypoglycemia	3	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency			237
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040281 - Very frequent		237
HP:0012337	HP:0000819	Diabetes mellitus	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0003074	Hyperglycemia	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		237
HP:0012337	HP:0000819	Diabetes mellitus	3	GCK CL E G H	2645	4195	OMIM:125851	Maturity-onset diabetes of the young, type II			237
HP:0012337	HP:0000819	Diabetes mellitus	3	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0012337	HP:0001943	Hypoglycemia	3	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0003074	Hyperglycemia	3	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent		237
HP:0012337	HP:0040270	Impaired glucose tolerance	3	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0003128	Lactic acidosis	3	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent		14
HP:0012337	HP:0001942	Metabolic acidosis	3	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012337	HP:0002151	Increased serum lactate	3	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0012337	HP:0001943	Hypoglycemia	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0012337	HP:0002151	Increased serum lactate	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0012337	HP:0002151	Increased serum lactate	3	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.		43
HP:0012337	HP:0001943	Hypoglycemia	3	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0012337	HP:0001943	Hypoglycemia	3	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA	.		50
HP:0012337	HP:0001943	Hypoglycemia	3	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent		98
HP:0012337	HP:0001943	Hypoglycemia	3	GHR CL E G H	2690	4263	ORPHA:314802	Short stature due to partial GHR deficiency	HP:0040283 - Occasional		98
HP:0012337	HP:0001943	Hypoglycemia	3	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent		37
HP:0012337	HP:0000819	Diabetes mellitus	3	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		68
HP:0012337	HP:0000819	Diabetes mellitus	3	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0012337	HP:0001943	Hypoglycemia	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0012337	HP:0000819	Diabetes mellitus	3	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		74
HP:0012337	HP:0000819	Diabetes mellitus	3	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		12
HP:0012337	HP:0001004	Lymphedema	3	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC	.		37
HP:0012337	HP:0001004	Lymphedema	3	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040281 - Very frequent		37
HP:0012337	HP:0010741	Pedal edema	3	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		37
HP:0012337	HP:0001942	Metabolic acidosis	3	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0012337	HP:0001943	Hypoglycemia	3	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0012337	HP:0001993	Ketoacidosis	3	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0012337	HP:0001004	Lymphedema	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0012337	HP:0001004	Lymphedema	3	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.		291
HP:0012337	HP:0001789	Hydrops fetalis	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0012337	HP:0001789	Hydrops fetalis	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0012337	HP:0001943	Hypoglycemia	3	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		173
HP:0012337	HP:0000819	Diabetes mellitus	3	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0012337	HP:0003074	Hyperglycemia	3	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0012337	HP:0000819	Diabetes mellitus	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	HP:0003623 - Neonatal onset	143
HP:0012337	HP:0000819	Diabetes mellitus	3	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.		56
HP:0012337	HP:0001943	Hypoglycemia	3	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6			56
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent		56
HP:0012337	HP:0001943	Hypoglycemia	3	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome			56
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent		56
HP:0012337	HP:0001942	Metabolic acidosis	3	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040281 - Very frequent		6
HP:0012337	HP:0001942	Metabolic acidosis	3	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0012337	HP:0001943	Hypoglycemia	3	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0012337	HP:0001386	Joint swelling	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012337	HP:0000282	Facial edema	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012337	HP:0002151	Increased serum lactate	3	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0012337	HP:0001943	Hypoglycemia	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0012337	HP:0001943	Hypoglycemia	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0012337	HP:0010880	Increased nuchal translucency	3	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040283 - Occasional		99
HP:0012337	HP:0000819	Diabetes mellitus	3	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0000282	Facial edema	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0012337	HP:0000819	Diabetes mellitus	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0012337	HP:0001386	Joint swelling	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		5
HP:0012337	HP:0001943	Hypoglycemia	3	GPR161 CL E G H	23432	23694	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		2
HP:0012337	HP:0000819	Diabetes mellitus	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0012337	HP:0002202	Pleural effusion	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0012337	HP:0001943	Hypoglycemia	3	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0012337	HP:0001943	Hypoglycemia	3	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0012337	HP:0012040	Corneal stromal edema	3	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0012337	HP:0001789	Hydrops fetalis	3	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.		80
HP:0012337	HP:0000282	Facial edema	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0012337	HP:0001942	Metabolic acidosis	3	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0012337	HP:0012468	Chronic acidosis	3	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency			39
HP:0012337	HP:0000282	Facial edema	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0000819	Diabetes mellitus	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0000282	Facial edema	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0000819	Diabetes mellitus	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0000282	Facial edema	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0000819	Diabetes mellitus	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0003128	Lactic acidosis	3	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040281 - Very frequent		30
HP:0012337	HP:0002151	Increased serum lactate	3	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	.		30
HP:0012337	HP:0003128	Lactic acidosis	3	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	.		30
HP:0012337	HP:0000819	Diabetes mellitus	3	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0012337	HP:0001004	Lymphedema	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent		54
HP:0012337	HP:0001789	Hydrops fetalis	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040282 - Frequent		54
HP:0012337	HP:0001789	Hydrops fetalis	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0012337	HP:0001789	Hydrops fetalis	3	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		5
HP:0012337	HP:0001943	Hypoglycemia	3	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver			100
HP:0012337	HP:0002151	Increased serum lactate	3	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.		100
HP:0012337	HP:0003074	Hyperglycemia	3	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver			100
HP:0012337	HP:0001943	Hypoglycemia	3	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0012337	HP:0003074	Hyperglycemia	3	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency			100
HP:0012337	HP:0001943	Hypoglycemia	3	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		4
HP:0012337	HP:0001943	Hypoglycemia	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0012337	HP:0001943	Hypoglycemia	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0012337	HP:0001954	Recurrent fever	3	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012337	HP:0001943	Hypoglycemia	3	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.		41
HP:0012337	HP:0001943	Hypoglycemia	3	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0012337	HP:0001943	Hypoglycemia	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0012337	HP:0003128	Lactic acidosis	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		41
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0012337	HP:0001943	Hypoglycemia	3	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		99
HP:0012337	HP:0001943	Hypoglycemia	3	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency	.	HP:0003593 - Infantile onset	99
HP:0012337	HP:0001789	Hydrops fetalis	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0012337	HP:0001943	Hypoglycemia	3	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0001943	Hypoglycemia	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0003128	Lactic acidosis	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0012337	HP:0001789	Hydrops fetalis	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0012337	HP:0001943	Hypoglycemia	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0001943	Hypoglycemia	3	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0003128	Lactic acidosis	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0012337	HP:0000819	Diabetes mellitus	3	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent		15
HP:0012337	HP:0000282	Facial edema	3	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	HP:0040284 - Very rare
HP:0012337	HP:0001789	Hydrops fetalis	3	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent		200
HP:0012337	HP:0001789	Hydrops fetalis	3	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent		88
HP:0012337	HP:0000819	Diabetes mellitus	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040284 - Very rare		580
HP:0012337	HP:0000819	Diabetes mellitus	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0012337	HP:0001954	Recurrent fever	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0012337	HP:0000819	Diabetes mellitus	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0012337	HP:0001954	Recurrent fever	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0012337	HP:0002912	Methylmalonic acidemia	3	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.		100
HP:0012337	HP:0010880	Increased nuchal translucency	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0012337	HP:0002202	Pleural effusion	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0012337	HP:0100598	Pulmonary edema	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0012337	HP:0007430	Generalized edema	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0012337	HP:0001954	Recurrent fever	3	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0012337	HP:0001943	Hypoglycemia	3	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0012337	HP:0000819	Diabetes mellitus	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012337	HP:0001943	Hypoglycemia	3	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		21
HP:0012337	HP:0000282	Facial edema	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0012337	HP:0001943	Hypoglycemia	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		21
HP:0012337	HP:0001943	Hypoglycemia	3	HESX1 CL E G H	8820	4877	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		21
HP:0012337	HP:0000819	Diabetes mellitus	3	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0012337	HP:0000819	Diabetes mellitus	3	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0012337	HP:0002202	Pleural effusion	3	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0012337	HP:0000819	Diabetes mellitus	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0012337	HP:0001386	Joint swelling	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0012337	HP:0003074	Hyperglycemia	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent		38
HP:0012337	HP:0001386	Joint swelling	3	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent		77
HP:0012337	HP:0000819	Diabetes mellitus	3	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0012337	HP:0001942	Metabolic acidosis	3	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent		32
HP:0012337	HP:0002151	Increased serum lactate	3	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent		32
HP:0012337	HP:0000819	Diabetes mellitus	3	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0012337	HP:0040049	Macular edema	3	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0012337	HP:0002202	Pleural effusion	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0012337	HP:0001386	Joint swelling	3	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0012337	HP:0200114	Metabolic alkalosis	3	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0012337	HP:0000282	Facial edema	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0000282	Facial edema	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0012337	HP:0000819	Diabetes mellitus	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012337	HP:0000819	Diabetes mellitus	3	HLA-DQB1 CL E G H	3119	4944	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0012337	HP:0000819	Diabetes mellitus	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:703	Bullous pemphigoid	HP:0040281 - Very frequent		2
HP:0012337	HP:0001004	Lymphedema	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		2
HP:0012337	HP:0002202	Pleural effusion	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		2
HP:0012337	HP:0001386	Joint swelling	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0012337	HP:0002202	Pleural effusion	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent		2
HP:0012337	HP:0002202	Pleural effusion	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0012337	HP:0001386	Joint swelling	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0012337	HP:0002202	Pleural effusion	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0012337	HP:0001942	Metabolic acidosis	3	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0012337	HP:0000819	Diabetes mellitus	3	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0000819	Diabetes mellitus	3	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0012337	HP:0001943	Hypoglycemia	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0012337	HP:0001942	Metabolic acidosis	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040281 - Very frequent		35
HP:0012337	HP:0001943	Hypoglycemia	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0012337	HP:0002151	Increased serum lactate	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0012337	HP:0001942	Metabolic acidosis	3	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0012337	HP:0001943	Hypoglycemia	3	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0012337	HP:0001943	Hypoglycemia	3	HMGCS2 CL E G H	3158	5008	ORPHA:35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	HP:0040281 - Very frequent		42
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1A CL E G H	6927	11621	OMIM:612520	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20			161
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		161
HP:0012337	HP:0001993	Ketoacidosis	3	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		161
HP:0012337	HP:0003074	Hyperglycemia	3	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		161
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent			161
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial			161
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent		161
HP:0012337	HP:0001943	Hypoglycemia	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III			161
HP:0012337	HP:0003074	Hyperglycemia	3	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III	.		161
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0012337	HP:0001943	Hypoglycemia	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0003074	Hyperglycemia	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent		161
HP:0012337	HP:0040270	Impaired glucose tolerance	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040282 - Frequent		90
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent			90
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040282 - Frequent		90
HP:0012337	HP:0001942	Metabolic acidosis	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012337	HP:0001942	Metabolic acidosis	3	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney			90
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0012337	HP:0040270	Impaired glucose tolerance	3	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.		90
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent			138
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	HP:0040283 - Occasional		138
HP:0012337	HP:0001942	Metabolic acidosis	3	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0012337	HP:0001943	Hypoglycemia	3	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	HP:0003623 - Neonatal onset	138
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0012337	HP:0001942	Metabolic acidosis	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0001943	Hypoglycemia	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0001993	Ketoacidosis	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF4A CL E G H	3172	5024	OMIM:125850	Maturity-onset diabetes of the young, type 1			138
HP:0012337	HP:0000819	Diabetes mellitus	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0012337	HP:0001943	Hypoglycemia	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0003074	Hyperglycemia	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent		138
HP:0012337	HP:0040270	Impaired glucose tolerance	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0001954	Recurrent fever	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0012337	HP:0010880	Increased nuchal translucency	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent		8
HP:0012337	HP:0001954	Recurrent fever	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0012337	HP:0010880	Increased nuchal translucency	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent		8
HP:0012337	HP:0001942	Metabolic acidosis	3	HPD CL E G H	3242	5147	ORPHA:2118	Hawkinsinuria	HP:0040281 - Very frequent		23
HP:0012337	HP:0001942	Metabolic acidosis	3	HPD CL E G H	3242	5147	OMIM:140350	HAWKINSINURIA	.		23
HP:0012337	HP:0002151	Increased serum lactate	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0012337	HP:0001386	Joint swelling	3	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent		55
HP:0012337	HP:0001386	Joint swelling	3	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		55
HP:0012337	HP:0001943	Hypoglycemia	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0012337	HP:0001004	Lymphedema	3	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0012337	HP:0000282	Facial edema	3	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012337	HP:0100665	Angioedema	3	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012337	HP:0012027	Laryngeal edema	3	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0012337	HP:0002151	Increased serum lactate	3	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0012337	HP:0200114	Metabolic alkalosis	3	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.		14
HP:0012337	HP:0200114	Metabolic alkalosis	3	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0012337	HP:0001942	Metabolic acidosis	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0012337	HP:0001943	Hypoglycemia	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0012337	HP:0002151	Increased serum lactate	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040281 - Very frequent		19
HP:0012337	HP:0003128	Lactic acidosis	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0012337	HP:0001942	Metabolic acidosis	3	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type	HP:0040281 - Very frequent		19
HP:0012337	HP:0003128	Lactic acidosis	3	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type	HP:0040281 - Very frequent		19
HP:0012337	HP:0001942	Metabolic acidosis	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0012337	HP:0001943	Hypoglycemia	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0012337	HP:0003128	Lactic acidosis	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0012337	HP:0001943	Hypoglycemia	3	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency			34
HP:0012337	HP:0001789	Hydrops fetalis	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0012337	HP:0001943	Hypoglycemia	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0012337	HP:0002151	Increased serum lactate	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0012337	HP:0000819	Diabetes mellitus	3	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0003074	Hyperglycemia	3	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0012337	HP:0000819	Diabetes mellitus	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0000819	Diabetes mellitus	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001993	Ketoacidosis	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0003074	Hyperglycemia	3	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0012337	HP:0001943	Hypoglycemia	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0012337	HP:0000819	Diabetes mellitus	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001943	Hypoglycemia	3	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome			25
HP:0012337	HP:0001943	Hypoglycemia	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0012337	HP:0001942	Metabolic acidosis	3	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0012337	HP:0001954	Recurrent fever	3	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0012337	HP:0003128	Lactic acidosis	3	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0012337	HP:0040145	Dicarboxylic acidemia	3	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0012337	HP:0000819	Diabetes mellitus	3	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0040049	Macular edema	3	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0012337	HP:0000819	Diabetes mellitus	3	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0012337	HP:0000819	Diabetes mellitus	3	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0012337	HP:0000819	Diabetes mellitus	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0012337	HP:0001955	Unexplained fevers	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0012337	HP:0001954	Recurrent fever	3	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95			28
HP:0012337	HP:0002202	Pleural effusion	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0012337	HP:0002202	Pleural effusion	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0012337	HP:0000819	Diabetes mellitus	3	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0012337	HP:0000819	Diabetes mellitus	3	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0040270	Impaired glucose tolerance	3	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040284 - Very rare		48
HP:0012337	HP:0001789	Hydrops fetalis	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0012337	HP:0000819	Diabetes mellitus	3	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0001943	Hypoglycemia	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional		91
HP:0012337	HP:0000819	Diabetes mellitus	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0012337	HP:0001943	Hypoglycemia	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0012337	HP:0001943	Hypoglycemia	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0012337	HP:0001943	Hypoglycemia	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0012337	HP:0001943	Hypoglycemia	3	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		9
HP:0012337	HP:0000819	Diabetes mellitus	3	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0001004	Lymphedema	3	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		7
HP:0012337	HP:0002202	Pleural effusion	3	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		7
HP:0012337	HP:0000819	Diabetes mellitus	3	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0012337	HP:0000819	Diabetes mellitus	3	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0012337	HP:0000282	Facial edema	3	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect			3
HP:0012337	HP:0001004	Lymphedema	3	IKBKG CL E G H	8517	5961	OMIM:300291	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1			52
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0012337	HP:0200114	Metabolic alkalosis	3	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0012337	HP:0002202	Pleural effusion	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0012337	HP:0001386	Joint swelling	3	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0012337	HP:0002202	Pleural effusion	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012337	HP:0002202	Pleural effusion	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0012337	HP:0001386	Joint swelling	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0012337	HP:0002202	Pleural effusion	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0012337	HP:0000819	Diabetes mellitus	3	IL2RA CL E G H	3559	6008	OMIM:601942	Diabetes mellitus, insulin-dependent, 10	.		65
HP:0012337	HP:0000819	Diabetes mellitus	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0012337	HP:0001386	Joint swelling	3	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0012337	HP:0011134	Low-grade fever	3	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0012337	HP:0001386	Joint swelling	3	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0012337	HP:0011134	Low-grade fever	3	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0012337	HP:0001954	Recurrent fever	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent		48
HP:0012337	HP:0000819	Diabetes mellitus	3	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		2
HP:0012337	HP:0001993	Ketoacidosis	3	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		2
HP:0012337	HP:0003074	Hyperglycemia	3	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		2
HP:0012337	HP:0000819	Diabetes mellitus	3	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent			2
HP:0012337	HP:0001386	Joint swelling	3	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0012337	HP:0002202	Pleural effusion	3	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0012337	HP:0000819	Diabetes mellitus	3	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0012337	HP:0000819	Diabetes mellitus	3	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0012337	HP:0000819	Diabetes mellitus	3	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0012337	HP:0000282	Facial edema	3	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0012337	HP:0001004	Lymphedema	3	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0012337	HP:0000819	Diabetes mellitus	3	INS CL E G H	3630	6081	OMIM:125852	Diabetes mellitus, insulin-dependent, 2	.		62
HP:0012337	HP:0000819	Diabetes mellitus	3	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0001993	Ketoacidosis	3	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0003074	Hyperglycemia	3	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0003074	Hyperglycemia	3	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia	HP:0040283 - Occasional		62
HP:0012337	HP:0000819	Diabetes mellitus	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0003074	Hyperglycemia	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		62
HP:0012337	HP:0000819	Diabetes mellitus	3	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0001993	Ketoacidosis	3	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0003074	Hyperglycemia	3	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0000819	Diabetes mellitus	3	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0012337	HP:0001943	Hypoglycemia	3	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0003074	Hyperglycemia	3	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent		62
HP:0012337	HP:0040270	Impaired glucose tolerance	3	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0001943	Hypoglycemia	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0012337	HP:0003074	Hyperglycemia	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.		229
HP:0012337	HP:0001943	Hypoglycemia	3	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5			229
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.		229
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040280 - Obligate		229
HP:0012337	HP:0001943	Hypoglycemia	3	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040281 - Very frequent		229
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040281 - Very frequent		229
HP:0012337	HP:0000819	Diabetes mellitus	3	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A			229
HP:0012337	HP:0001943	Hypoglycemia	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012337	HP:0003074	Hyperglycemia	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012337	HP:0000819	Diabetes mellitus	3	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012337	HP:0001943	Hypoglycemia	3	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012337	HP:0001993	Ketoacidosis	3	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities			229
HP:0012337	HP:0003074	Hyperglycemia	3	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012337	HP:0000819	Diabetes mellitus	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0012337	HP:0001943	Hypoglycemia	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0001993	Ketoacidosis	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0003074	Hyperglycemia	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0012337	HP:0040270	Impaired glucose tolerance	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0012337	HP:0001942	Metabolic acidosis	3	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0012337	HP:0000819	Diabetes mellitus	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0002202	Pleural effusion	3	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0012337	HP:0010741	Pedal edema	3	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0012337	HP:0000819	Diabetes mellitus	3	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent			5
HP:0012337	HP:0000819	Diabetes mellitus	3	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0002151	Increased serum lactate	3	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.		1
HP:0012337	HP:0002151	Increased serum lactate	3	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.		19
HP:0012337	HP:0003128	Lactic acidosis	3	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.		19
HP:0012337	HP:0000819	Diabetes mellitus	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012337	HP:0000819	Diabetes mellitus	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0012337	HP:0005972	Respiratory acidosis	3	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0012337	HP:0001943	Hypoglycemia	3	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0012337	HP:0001954	Recurrent fever	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0012337	HP:0002202	Pleural effusion	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0012337	HP:0000819	Diabetes mellitus	3	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0012337	HP:0001993	Ketoacidosis	3	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0012337	HP:0003074	Hyperglycemia	3	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0012337	HP:0001942	Metabolic acidosis	3	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.		105
HP:0012337	HP:0001942	Metabolic acidosis	3	IVD CL E G H	3712	6186	ORPHA:33	Isovaleric acidemia	HP:0040281 - Very frequent		105
HP:0012337	HP:0001993	Ketoacidosis	3	IVD CL E G H	3712	6186	OMIM:243500	Isovaleric acidemia	.		105
HP:0012337	HP:0000282	Facial edema	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		130
HP:0012337	HP:0001942	Metabolic acidosis	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012337	HP:0011134	Low-grade fever	3	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		57
HP:0012337	HP:0002151	Increased serum lactate	3	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0012337	HP:0002151	Increased serum lactate	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012337	HP:0000282	Facial edema	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012337	HP:0003074	Hyperglycemia	3	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012337	HP:0200114	Metabolic alkalosis	3	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0012337	HP:0200114	Metabolic alkalosis	3	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent		121
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012337	HP:0200114	Metabolic alkalosis	3	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance			121
HP:0012337	HP:0000819	Diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent		127
HP:0012337	HP:0001943	Hypoglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0040270	Impaired glucose tolerance	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0001943	Hypoglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0003074	Hyperglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040280 - Obligate		127
HP:0012337	HP:0000819	Diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent			127
HP:0012337	HP:0000819	Diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0001993	Ketoacidosis	3	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0003074	Hyperglycemia	3	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0000819	Diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0003074	Hyperglycemia	3	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.		127
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.		127
HP:0012337	HP:0001943	Hypoglycemia	3	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.		127
HP:0012337	HP:0000819	Diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0003074	Hyperglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0012337	HP:0000819	Diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13			127
HP:0012337	HP:0000819	Diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0012337	HP:0001943	Hypoglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0003074	Hyperglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent		127
HP:0012337	HP:0040270	Impaired glucose tolerance	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0000819	Diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0001993	Ketoacidosis	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0003074	Hyperglycemia	3	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0012337	HP:0003074	Hyperglycemia	3	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0012337	HP:0200114	Metabolic alkalosis	3	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional		128
HP:0012337	HP:0001942	Metabolic acidosis	3	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	HP:0040283 - Occasional		128
HP:0012337	HP:0001943	Hypoglycemia	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0012337	HP:0001943	Hypoglycemia	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0012337	HP:0002181	Cerebral edema	3	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent		528
HP:0012337	HP:0000282	Facial edema	3	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0012337	HP:0000282	Facial edema	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0012337	HP:0000819	Diabetes mellitus	3	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0012337	HP:0001943	Hypoglycemia	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012337	HP:0000819	Diabetes mellitus	3	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040282 - Frequent		4
HP:0012337	HP:0001789	Hydrops fetalis	3	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	HP:0040283 - Occasional		24
HP:0012337	HP:0000819	Diabetes mellitus	3	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0040049	Macular edema	3	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0012337	HP:0001004	Lymphedema	3	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0012337	HP:0001004	Lymphedema	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040281 - Very frequent		46
HP:0012337	HP:0002202	Pleural effusion	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0012337	HP:0000282	Facial edema	3	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0012337	HP:0010741	Pedal edema	3	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		276
HP:0012337	HP:0012398	Peripheral edema	3	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		276
HP:0012337	HP:0001789	Hydrops fetalis	3	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0012337	HP:0100598	Pulmonary edema	3	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0012337	HP:0012398	Peripheral edema	3	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0012337	HP:0001004	Lymphedema	3	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.		167
HP:0012337	HP:0100665	Angioedema	3	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0012337	HP:0025533	Peau d'orange	3	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma			327
HP:0012337	HP:0000819	Diabetes mellitus	3	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0012337	HP:0001789	Hydrops fetalis	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0012337	HP:0000819	Diabetes mellitus	3	KLF11 CL E G H	8462	11811	OMIM:610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7			78
HP:0012337	HP:0000819	Diabetes mellitus	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0012337	HP:0001943	Hypoglycemia	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0003074	Hyperglycemia	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent		78
HP:0012337	HP:0040270	Impaired glucose tolerance	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0001942	Metabolic acidosis	3	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID			118
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID			118
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0012337	HP:0000819	Diabetes mellitus	3	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0012337	HP:0002202	Pleural effusion	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012337	HP:0000282	Facial edema	3	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6			7
HP:0012337	HP:0100665	Angioedema	3	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6			7
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	KNG1 CL E G H	3827	6383	OMIM:619363	ANGIOEDEMA, HEREDITARY, 6; HAE6			7
HP:0012337	HP:0000282	Facial edema	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0012337	HP:0000282	Facial edema	3	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012337	HP:0001004	Lymphedema	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		196
HP:0012337	HP:0000819	Diabetes mellitus	3	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		196
HP:0012337	HP:0001004	Lymphedema	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		196
HP:0012337	HP:0001004	Lymphedema	3	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0012337	HP:0001942	Metabolic acidosis	3	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent		5
HP:0012337	HP:0040145	Dicarboxylic acidemia	3	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria			34
HP:0012337	HP:0001954	Recurrent fever	3	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR			1
HP:0012337	HP:0001386	Joint swelling	3	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0012337	HP:0002202	Pleural effusion	3	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0012337	HP:0002181	Cerebral edema	3	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent		411
HP:0012337	HP:0001955	Unexplained fevers	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0012337	HP:0001955	Unexplained fevers	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0012337	HP:0001955	Unexplained fevers	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0012337	HP:0003128	Lactic acidosis	3	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0012337	HP:0003128	Lactic acidosis	3	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0012337	HP:0001004	Lymphedema	3	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent		70
HP:0012337	HP:0001789	Hydrops fetalis	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0012337	HP:0010880	Increased nuchal translucency	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0012337	HP:0001942	Metabolic acidosis	3	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.		72
HP:0012337	HP:0002151	Increased serum lactate	3	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.		35
HP:0012337	HP:0000819	Diabetes mellitus	3	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0012337	HP:0001004	Lymphedema	3	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0012337	HP:0000819	Diabetes mellitus	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency			47
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent		47
HP:0012337	HP:0000819	Diabetes mellitus	3	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040284 - Very rare		46
HP:0012337	HP:0000819	Diabetes mellitus	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency			46
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent		46
HP:0012337	HP:0002151	Increased serum lactate	3	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0012337	HP:0000819	Diabetes mellitus	3	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000282	Facial edema	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0012337	HP:0001943	Hypoglycemia	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		51
HP:0012337	HP:0001943	Hypoglycemia	3	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		43
HP:0012337	HP:0000282	Facial edema	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0012337	HP:0001943	Hypoglycemia	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		43
HP:0012337	HP:0001943	Hypoglycemia	3	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	.		43
HP:0012337	HP:0001943	Hypoglycemia	3	LHX4 CL E G H	89884	21734	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		43
HP:0012337	HP:0002151	Increased serum lactate	3	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0012337	HP:0003128	Lactic acidosis	3	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0012337	HP:0001954	Recurrent fever	3	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0012337	HP:0001954	Recurrent fever	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0012337	HP:0003128	Lactic acidosis	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0012337	HP:0000819	Diabetes mellitus	3	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0012337	HP:0000282	Facial edema	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent			35
HP:0012337	HP:0000819	Diabetes mellitus	3	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent		7
HP:0012337	HP:0000819	Diabetes mellitus	3	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.		7
HP:0012337	HP:0002151	Increased serum lactate	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0012337	HP:0002151	Increased serum lactate	3	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.		21
HP:0012337	HP:0003128	Lactic acidosis	3	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.		21
HP:0012337	HP:0002151	Increased serum lactate	3	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0012337	HP:0003128	Lactic acidosis	3	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0012337	HP:0002912	Methylmalonic acidemia	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.		46
HP:0012337	HP:0000819	Diabetes mellitus	3	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0012337	HP:0000819	Diabetes mellitus	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0012337	HP:0003074	Hyperglycemia	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0012337	HP:0000819	Diabetes mellitus	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0012337	HP:0000819	Diabetes mellitus	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent		645
HP:0012337	HP:0000819	Diabetes mellitus	3	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040281 - Very frequent		645
HP:0012337	HP:0000819	Diabetes mellitus	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0012337	HP:0003074	Hyperglycemia	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0012337	HP:0000819	Diabetes mellitus	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0012337	HP:0040270	Impaired glucose tolerance	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0012337	HP:0000819	Diabetes mellitus	3	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.		11
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0012337	HP:0002151	Increased serum lactate	3	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent		8
HP:0012337	HP:0003128	Lactic acidosis	3	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		8
HP:0012337	HP:0001386	Joint swelling	3	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012337	HP:0001954	Recurrent fever	3	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0012337	HP:0000819	Diabetes mellitus	3	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0012337	HP:0000819	Diabetes mellitus	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0012337	HP:0001004	Lymphedema	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0012337	HP:0040049	Macular edema	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0012337	HP:0000819	Diabetes mellitus	3	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.		26
HP:0012337	HP:0040270	Impaired glucose tolerance	3	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.		26
HP:0012337	HP:0001942	Metabolic acidosis	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent		191
HP:0012337	HP:0002151	Increased serum lactate	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent		191
HP:0012337	HP:0003128	Lactic acidosis	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent		191
HP:0012337	HP:0001943	Hypoglycemia	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0012337	HP:0002151	Increased serum lactate	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0012337	HP:0003074	Hyperglycemia	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0012337	HP:0003128	Lactic acidosis	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0012337	HP:0000819	Diabetes mellitus	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001955	Unexplained fevers	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000282	Facial edema	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0012337	HP:0001942	Metabolic acidosis	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0012337	HP:0003128	Lactic acidosis	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.		4
HP:0012337	HP:0002151	Increased serum lactate	3	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0012337	HP:0003128	Lactic acidosis	3	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0012337	HP:0002202	Pleural effusion	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0012337	HP:0001004	Lymphedema	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		43
HP:0012337	HP:0002202	Pleural effusion	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0012337	HP:0010880	Increased nuchal translucency	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0012337	HP:0010880	Increased nuchal translucency	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0012337	HP:0001943	Hypoglycemia	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012337	HP:0000819	Diabetes mellitus	3	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0012337	HP:0040270	Impaired glucose tolerance	3	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0012337	HP:0000819	Diabetes mellitus	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0012337	HP:0000819	Diabetes mellitus	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012337	HP:0000819	Diabetes mellitus	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0012337	HP:0010741	Pedal edema	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0012337	HP:0000819	Diabetes mellitus	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0012337	HP:0010741	Pedal edema	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0012337	HP:0000819	Diabetes mellitus	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0012337	HP:0010741	Pedal edema	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0012337	HP:0000282	Facial edema	3	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0012337	HP:0000819	Diabetes mellitus	3	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0012337	HP:0001004	Lymphedema	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		134
HP:0012337	HP:0001004	Lymphedema	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0012337	HP:0002202	Pleural effusion	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0012337	HP:0001004	Lymphedema	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		178
HP:0012337	HP:0001004	Lymphedema	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0012337	HP:0000819	Diabetes mellitus	3	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0003128	Lactic acidosis	3	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0012337	HP:0001943	Hypoglycemia	3	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0012337	HP:0001943	Hypoglycemia	3	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1			94
HP:0012337	HP:0000819	Diabetes mellitus	3	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency			54
HP:0012337	HP:0001942	Metabolic acidosis	3	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0012337	HP:0001943	Hypoglycemia	3	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0012337	HP:0001943	Hypoglycemia	3	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040281 - Very frequent		81
HP:0012337	HP:0001942	Metabolic acidosis	3	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0012337	HP:0001943	Hypoglycemia	3	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0012337	HP:0001993	Ketoacidosis	3	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0012337	HP:0001943	Hypoglycemia	3	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040281 - Very frequent		77
HP:0012337	HP:0001942	Metabolic acidosis	3	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency	.		19
HP:0012337	HP:0001789	Hydrops fetalis	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012337	HP:0001004	Lymphedema	3	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0012337	HP:0001789	Hydrops fetalis	3	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0012337	HP:0002151	Increased serum lactate	3	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0012337	HP:0001789	Hydrops fetalis	3	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0012337	HP:0002151	Increased serum lactate	3	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional		950
HP:0012337	HP:0000282	Facial edema	3	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012337	HP:0002202	Pleural effusion	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0012337	HP:0010741	Pedal edema	3	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional		281
HP:0012337	HP:0001954	Recurrent fever	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012337	HP:0002202	Pleural effusion	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0012337	HP:0001954	Recurrent fever	3	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0012337	HP:0001386	Joint swelling	3	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis	HP:0040281 - Very frequent		281
HP:0012337	HP:0001954	Recurrent fever	3	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0012337	HP:0001954	Recurrent fever	3	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0012337	HP:0000819	Diabetes mellitus	3	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0012337	HP:0000819	Diabetes mellitus	3	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		462
HP:0012337	HP:0001943	Hypoglycemia	3	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		462
HP:0012337	HP:0001943	Hypoglycemia	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0012337	HP:0000819	Diabetes mellitus	3	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0012337	HP:0000819	Diabetes mellitus	3	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0012337	HP:0000282	Facial edema	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0000819	Diabetes mellitus	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0040049	Macular edema	3	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0012337	HP:0001789	Hydrops fetalis	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0012337	HP:0000819	Diabetes mellitus	3	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012337	HP:0001943	Hypoglycemia	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0002151	Increased serum lactate	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0003128	Lactic acidosis	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0012337	HP:0001386	Joint swelling	3	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0012337	HP:0002202	Pleural effusion	3	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0012337	HP:0002151	Increased serum lactate	3	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.		7
HP:0012337	HP:0003128	Lactic acidosis	3	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.		7
HP:0012337	HP:0000819	Diabetes mellitus	3	MKKS CL E G H	8195	7108	OMIM:605231	Bardet-Biedl syndrome 6	.		69
HP:0012337	HP:0010741	Pedal edema	3	MKKS CL E G H	8195	7108	OMIM:236700	Mckusick-Kaufman syndrome	.		69
HP:0012337	HP:0000819	Diabetes mellitus	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012337	HP:0000819	Diabetes mellitus	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0000282	Facial edema	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0000819	Diabetes mellitus	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0000819	Diabetes mellitus	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0012337	HP:0001942	Metabolic acidosis	3	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.		80
HP:0012337	HP:0001943	Hypoglycemia	3	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.		80
HP:0012337	HP:0003128	Lactic acidosis	3	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.		80
HP:0012337	HP:0001942	Metabolic acidosis	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0012337	HP:0002912	Methylmalonic acidemia	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0012337	HP:0001942	Metabolic acidosis	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0012337	HP:0002912	Methylmalonic acidemia	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0012337	HP:0001789	Hydrops fetalis	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0012337	HP:0001942	Metabolic acidosis	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0012337	HP:0001943	Hypoglycemia	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0012337	HP:0002912	Methylmalonic acidemia	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent		101
HP:0012337	HP:0001942	Metabolic acidosis	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0012337	HP:0002912	Methylmalonic acidemia	3	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0012337	HP:0002912	Methylmalonic acidemia	3	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.		50
HP:0012337	HP:0000819	Diabetes mellitus	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0012337	HP:0000819	Diabetes mellitus	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0012337	HP:0001942	Metabolic acidosis	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0001943	Hypoglycemia	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0001993	Ketoacidosis	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0002912	Methylmalonic acidemia	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0012337	HP:0000819	Diabetes mellitus	3	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7			1
HP:0012337	HP:0007430	Generalized edema	3	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0012337	HP:0100598	Pulmonary edema	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0012337	HP:0007430	Generalized edema	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0012337	HP:0001943	Hypoglycemia	3	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.		6
HP:0012337	HP:0002151	Increased serum lactate	3	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.		6
HP:0012337	HP:0003128	Lactic acidosis	3	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.		6
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.		51
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent		51
HP:0012337	HP:0011134	Low-grade fever	3	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		97
HP:0012337	HP:0001942	Metabolic acidosis	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012337	HP:0001943	Hypoglycemia	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0012337	HP:0003128	Lactic acidosis	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0012337	HP:0001943	Hypoglycemia	3	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0012337	HP:0001943	Hypoglycemia	3	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2			26
HP:0012337	HP:0001004	Lymphedema	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002151	Increased serum lactate	3	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0012337	HP:0001942	Metabolic acidosis	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0001993	Ketoacidosis	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0002151	Increased serum lactate	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0031962	Elevated serum anion gap	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0012337	HP:0002151	Increased serum lactate	3	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.		13
HP:0012337	HP:0002151	Increased serum lactate	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0012337	HP:0003128	Lactic acidosis	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0012337	HP:0002151	Increased serum lactate	3	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.		60
HP:0012337	HP:0003128	Lactic acidosis	3	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.		60
HP:0012337	HP:0001943	Hypoglycemia	3	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0012337	HP:0002151	Increased serum lactate	3	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0012337	HP:0001942	Metabolic acidosis	3	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0012337	HP:0002151	Increased serum lactate	3	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0012337	HP:0001942	Metabolic acidosis	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0001943	Hypoglycemia	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0002151	Increased serum lactate	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0012337	HP:0002151	Increased serum lactate	3	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0012337	HP:0003128	Lactic acidosis	3	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0012337	HP:0001943	Hypoglycemia	3	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.		12
HP:0012337	HP:0003128	Lactic acidosis	3	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.		12
HP:0012337	HP:0001943	Hypoglycemia	3	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012337	HP:0000819	Diabetes mellitus	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0012337	HP:0002202	Pleural effusion	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0012337	HP:0002151	Increased serum lactate	3	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0012337	HP:0002151	Increased serum lactate	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0012337	HP:0000819	Diabetes mellitus	3	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0012337	HP:0030244	Maternal fever in pregnancy	3	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		183
HP:0012337	HP:0000819	Diabetes mellitus	3	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0012337	HP:0030244	Maternal fever in pregnancy	3	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		183
HP:0012337	HP:0000819	Diabetes mellitus	3	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0012337	HP:0001942	Metabolic acidosis	3	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0012337	HP:0001943	Hypoglycemia	3	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0012337	HP:0002151	Increased serum lactate	3	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0012337	HP:0003128	Lactic acidosis	3	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0012337	HP:0001943	Hypoglycemia	3	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0012337	HP:0001943	Hypoglycemia	3	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0012337	HP:0002151	Increased serum lactate	3	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0012337	HP:0001954	Recurrent fever	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0012337	HP:0001954	Recurrent fever	3	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0012337	HP:0100598	Pulmonary edema	3	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0012337	HP:0000282	Facial edema	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0012337	HP:0002202	Pleural effusion	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0012337	HP:0010741	Pedal edema	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0012337	HP:0010741	Pedal edema	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		452
HP:0012337	HP:0010880	Increased nuchal translucency	3	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0012337	HP:0007430	Generalized edema	3	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0012337	HP:0000282	Facial edema	3	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0012337	HP:0001942	Metabolic acidosis	3	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent		192
HP:0012337	HP:0000282	Facial edema	3	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0012337	HP:0100665	Angioedema	3	MYOF CL E G H	26509	3656	OMIM:619366	ANGIOEDEMA, HEREDITARY, 7; HAE7
HP:0012337	HP:0100598	Pulmonary edema	3	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		217
HP:0012337	HP:0012398	Peripheral edema	3	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		217
HP:0012337	HP:0000819	Diabetes mellitus	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0001004	Lymphedema	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0100598	Pulmonary edema	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0001943	Hypoglycemia	3	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0012337	HP:0001942	Metabolic acidosis	3	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012337	HP:0003128	Lactic acidosis	3	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0012337	HP:0001004	Lymphedema	3	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040283 - Occasional		47
HP:0012337	HP:0001004	Lymphedema	3	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040282 - Frequent		47
HP:0012337	HP:0001004	Lymphedema	3	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.		47
HP:0012337	HP:0002151	Increased serum lactate	3	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0012337	HP:0200114	Metabolic alkalosis	3	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0012337	HP:0003074	Hyperglycemia	3	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040280 - Obligate		34
HP:0012337	HP:0001954	Recurrent fever	3	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0002151	Increased serum lactate	3	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0012337	HP:0002181	Cerebral edema	3	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0012337	HP:0002151	Increased serum lactate	3	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0012337	HP:0002181	Cerebral edema	3	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0012337	HP:0003128	Lactic acidosis	3	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0012337	HP:0001943	Hypoglycemia	3	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0012337	HP:0000282	Facial edema	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012337	HP:0000819	Diabetes mellitus	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0012337	HP:0010880	Increased nuchal translucency	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0012337	HP:0000819	Diabetes mellitus	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0012337	HP:0001943	Hypoglycemia	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000819	Diabetes mellitus	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0012337	HP:0001943	Hypoglycemia	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0012337	HP:0001943	Hypoglycemia	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000819	Diabetes mellitus	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000819	Diabetes mellitus	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0012337	HP:0010741	Pedal edema	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012337	HP:0010741	Pedal edema	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0012337	HP:0010741	Pedal edema	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0012337	HP:0001004	Lymphedema	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012337	HP:0040049	Macular edema	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012337	HP:0000819	Diabetes mellitus	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		7
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	HP:0040284 - Very rare		7
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.		91
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		32
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.		32
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.		32
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.		3
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.		19
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.		1
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		40
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		26
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		31
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.		31
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		50
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		34
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17	.		39
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17	.		39
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040284 - Very rare		39
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012337	HP:0001789	Hydrops fetalis	3	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		3
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.		3
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		9
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.		9
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		16
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24	.		16
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		81
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		65
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		22
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0012337	HP:0002181	Cerebral edema	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		21
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.		21
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		38
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		42
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		74
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0012337	HP:0001942	Metabolic acidosis	3	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0012337	HP:0000819	Diabetes mellitus	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0012337	HP:0001943	Hypoglycemia	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0012337	HP:0002151	Increased serum lactate	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0012337	HP:0003128	Lactic acidosis	3	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.		27
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0012337	HP:0001789	Hydrops fetalis	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.		101
HP:0012337	HP:0000819	Diabetes mellitus	3	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0012337	HP:0001789	Hydrops fetalis	3	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0012337	HP:0000282	Facial edema	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0012337	HP:0001789	Hydrops fetalis	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0012337	HP:0000819	Diabetes mellitus	3	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			32
HP:0012337	HP:0000819	Diabetes mellitus	3	NEUROD1 CL E G H	4760	7762	OMIM:606394	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6			32
HP:0012337	HP:0000819	Diabetes mellitus	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0012337	HP:0001943	Hypoglycemia	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0003074	Hyperglycemia	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent		32
HP:0012337	HP:0040270	Impaired glucose tolerance	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0001942	Metabolic acidosis	3	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital			5
HP:0012337	HP:0000819	Diabetes mellitus	3	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0001942	Metabolic acidosis	3	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0012337	HP:0001943	Hypoglycemia	3	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0012337	HP:0001943	Hypoglycemia	3	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10			11
HP:0012337	HP:0001386	Joint swelling	3	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0012337	HP:0001942	Metabolic acidosis	3	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0012337	HP:0001943	Hypoglycemia	3	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0012337	HP:0002151	Increased serum lactate	3	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0012337	HP:0001942	Metabolic acidosis	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012337	HP:0002151	Increased serum lactate	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012337	HP:0003128	Lactic acidosis	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0012337	HP:0001954	Recurrent fever	3	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	HP:0040283 - Occasional		20
HP:0012337	HP:0002151	Increased serum lactate	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation	HP:0040284 - Very rare		32
HP:0012337	HP:0000819	Diabetes mellitus	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0012337	HP:0010880	Increased nuchal translucency	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0012337	HP:0001955	Unexplained fevers	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0012337	HP:0010741	Pedal edema	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		90
HP:0012337	HP:0000819	Diabetes mellitus	3	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0012337	HP:0100598	Pulmonary edema	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional		3
HP:0012337	HP:0001954	Recurrent fever	3	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0012337	HP:0001954	Recurrent fever	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0012337	HP:0001954	Recurrent fever	3	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0012337	HP:0001004	Lymphedema	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0012337	HP:0001954	Recurrent fever	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0012337	HP:0001954	Recurrent fever	3	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation			217
HP:0012337	HP:0001954	Recurrent fever	3	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0012337	HP:0001954	Recurrent fever	3	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0012337	HP:0001943	Hypoglycemia	3	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0012337	HP:0001943	Hypoglycemia	3	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	.		13
HP:0012337	HP:0001386	Joint swelling	3	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent		187
HP:0012337	HP:0001386	Joint swelling	3	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0012337	HP:0040049	Macular edema	3	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0012337	HP:0001954	Recurrent fever	3	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0012337	HP:0000819	Diabetes mellitus	3	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0012337	HP:0000819	Diabetes mellitus	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0012337	HP:0007430	Generalized edema	3	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22			4
HP:0012337	HP:0001942	Metabolic acidosis	3	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0012337	HP:0000819	Diabetes mellitus	3	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional		144
HP:0012337	HP:0000819	Diabetes mellitus	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012337	HP:0000282	Facial edema	3	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0012337	HP:0000282	Facial edema	3	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0012337	HP:0000819	Diabetes mellitus	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0012337	HP:0001789	Hydrops fetalis	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0001943	Hypoglycemia	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0002202	Pleural effusion	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0040049	Macular edema	3	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.		58
HP:0012337	HP:0000819	Diabetes mellitus	3	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0012337	HP:0000819	Diabetes mellitus	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		79
HP:0012337	HP:0040270	Impaired glucose tolerance	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0012337	HP:0010741	Pedal edema	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0012337	HP:0001943	Hypoglycemia	3	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040283 - Occasional		79
HP:0012337	HP:0200114	Metabolic alkalosis	3	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040282 - Frequent		79
HP:0012337	HP:0001943	Hypoglycemia	3	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	.		79
HP:0012337	HP:0200114	Metabolic alkalosis	3	NR3C1 CL E G H	2908	7978	OMIM:615962	Glucocorticoid resistance, generalized	.		79
HP:0012337	HP:0001942	Metabolic acidosis	3	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.		109
HP:0012337	HP:0001004	Lymphedema	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		102
HP:0012337	HP:0000819	Diabetes mellitus	3	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0012337	HP:0040049	Macular edema	3	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	HP:0040283 - Occasional		30
HP:0012337	HP:0001943	Hypoglycemia	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0012337	HP:0010741	Pedal edema	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0012337	HP:0001943	Hypoglycemia	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012337	HP:0001789	Hydrops fetalis	3	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0012337	HP:0000819	Diabetes mellitus	3	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0000819	Diabetes mellitus	3	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.		2
HP:0012337	HP:0040270	Impaired glucose tolerance	3	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.		2
HP:0012337	HP:0002151	Increased serum lactate	3	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012337	HP:0003128	Lactic acidosis	3	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012337	HP:0001954	Recurrent fever	3	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent		97
HP:0012337	HP:0001955	Unexplained fevers	3	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0012337	HP:0001954	Recurrent fever	3	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.		97
HP:0012337	HP:0000819	Diabetes mellitus	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		89
HP:0012337	HP:0001943	Hypoglycemia	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0012337	HP:0003128	Lactic acidosis	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0012337	HP:0000282	Facial edema	3	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012337	HP:0000282	Facial edema	3	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0000282	Facial edema	3	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0000282	Facial edema	3	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0000282	Facial edema	3	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0000282	Facial edema	3	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0012337	HP:0000282	Facial edema	3	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0012337	HP:0000819	Diabetes mellitus	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0012337	HP:0010741	Pedal edema	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0012337	HP:0000819	Diabetes mellitus	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0012337	HP:0010741	Pedal edema	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0012337	HP:0000819	Diabetes mellitus	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0012337	HP:0010741	Pedal edema	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0012337	HP:0001942	Metabolic acidosis	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0012337	HP:0001386	Joint swelling	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0012337	HP:0001942	Metabolic acidosis	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0012337	HP:0002151	Increased serum lactate	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0012337	HP:0001943	Hypoglycemia	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0000819	Diabetes mellitus	3	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0012337	HP:0001942	Metabolic acidosis	3	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency	.
HP:0012337	HP:0002151	Increased serum lactate	3	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency	.
HP:0012337	HP:0003128	Lactic acidosis	3	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0012337	HP:0000819	Diabetes mellitus	3	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040284 - Very rare		214
HP:0012337	HP:0000819	Diabetes mellitus	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0012337	HP:0001954	Recurrent fever	3	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.		19
HP:0012337	HP:0001943	Hypoglycemia	3	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency	HP:0040281 - Very frequent		369
HP:0012337	HP:0001950	Respiratory alkalosis	3	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0012337	HP:0002181	Cerebral edema	3	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to	.		369
HP:0012337	HP:0001386	Joint swelling	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012337	HP:0001954	Recurrent fever	3	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0012337	HP:0001943	Hypoglycemia	3	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		41
HP:0012337	HP:0001943	Hypoglycemia	3	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0012337	HP:0000819	Diabetes mellitus	3	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0012337	HP:0012040	Corneal stromal edema	3	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0012337	HP:0001993	Ketoacidosis	3	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency			52
HP:0012337	HP:0001943	Hypoglycemia	3	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012337	HP:0000819	Diabetes mellitus	3	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		1349
HP:0012337	HP:0000819	Diabetes mellitus	3	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		192
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0012337	HP:0000819	Diabetes mellitus	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0012337	HP:0000282	Facial edema	3	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0012337	HP:0001942	Metabolic acidosis	3	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0012337	HP:0000819	Diabetes mellitus	3	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.		55
HP:0012337	HP:0001993	Ketoacidosis	3	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.		55
HP:0012337	HP:0000819	Diabetes mellitus	3	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent			55
HP:0012337	HP:0000819	Diabetes mellitus	3	PAX4 CL E G H	5078	8618	OMIM:612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9			55
HP:0012337	HP:0000819	Diabetes mellitus	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0012337	HP:0001943	Hypoglycemia	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0003074	Hyperglycemia	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent		55
HP:0012337	HP:0040270	Impaired glucose tolerance	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0001942	Metabolic acidosis	3	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0012337	HP:0001942	Metabolic acidosis	3	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012337	HP:0001943	Hypoglycemia	3	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0012337	HP:0002151	Increased serum lactate	3	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0012337	HP:0003128	Lactic acidosis	3	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0012337	HP:0000819	Diabetes mellitus	3	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0000819	Diabetes mellitus	3	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency			24
HP:0012337	HP:0001942	Metabolic acidosis	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0012337	HP:0001943	Hypoglycemia	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0012337	HP:0001943	Hypoglycemia	3	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040281 - Very frequent		96
HP:0012337	HP:0003128	Lactic acidosis	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0012337	HP:0001942	Metabolic acidosis	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0012337	HP:0001943	Hypoglycemia	3	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040281 - Very frequent		92
HP:0012337	HP:0001943	Hypoglycemia	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0012337	HP:0003128	Lactic acidosis	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0012337	HP:0001943	Hypoglycemia	3	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0012337	HP:0003128	Lactic acidosis	3	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0012337	HP:0001943	Hypoglycemia	3	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial	.		6
HP:0012337	HP:0000819	Diabetes mellitus	3	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II			531
HP:0012337	HP:0001943	Hypoglycemia	3	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0012337	HP:0001943	Hypoglycemia	3	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency			65
HP:0012337	HP:0000819	Diabetes mellitus	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		13
HP:0012337	HP:0000819	Diabetes mellitus	3	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	HP:0040283 - Occasional		113
HP:0012337	HP:0000819	Diabetes mellitus	3	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		113
HP:0012337	HP:0000819	Diabetes mellitus	3	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0012337	HP:0000819	Diabetes mellitus	3	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0012337	HP:0000819	Diabetes mellitus	3	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0012337	HP:0040049	Macular edema	3	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0012337	HP:0000819	Diabetes mellitus	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		75
HP:0012337	HP:0002151	Increased serum lactate	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0012337	HP:0001942	Metabolic acidosis	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0012337	HP:0002151	Increased serum lactate	3	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent		88
HP:0012337	HP:0002151	Increased serum lactate	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0012337	HP:0003128	Lactic acidosis	3	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		88
HP:0012337	HP:0003128	Lactic acidosis	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0012337	HP:0012468	Chronic acidosis	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0012337	HP:0003128	Lactic acidosis	3	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040282 - Frequent		37
HP:0012337	HP:0003128	Lactic acidosis	3	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0012337	HP:0001942	Metabolic acidosis	3	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.		98
HP:0012337	HP:0002151	Increased serum lactate	3	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040281 - Very frequent		98
HP:0012337	HP:0003128	Lactic acidosis	3	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040282 - Frequent		98
HP:0012337	HP:0003128	Lactic acidosis	3	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.		98
HP:0012337	HP:0002151	Increased serum lactate	3	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent		52
HP:0012337	HP:0003128	Lactic acidosis	3	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent		52
HP:0012337	HP:0003128	Lactic acidosis	3	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.		52
HP:0012337	HP:0002151	Increased serum lactate	3	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0012337	HP:0002151	Increased serum lactate	3	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.		54
HP:0012337	HP:0001942	Metabolic acidosis	3	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0002151	Increased serum lactate	3	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0012337	HP:0003128	Lactic acidosis	3	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0012337	HP:0007430	Generalized edema	3	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0012337	HP:0000819	Diabetes mellitus	3	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent			30
HP:0012337	HP:0000819	Diabetes mellitus	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0003074	Hyperglycemia	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0012337	HP:0000819	Diabetes mellitus	3	PDX1 CL E G H	3651	6107	OMIM:606392	Maturity-onset diabetes of the young, type 4			30
HP:0012337	HP:0000819	Diabetes mellitus	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0012337	HP:0001943	Hypoglycemia	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0003074	Hyperglycemia	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent		30
HP:0012337	HP:0040270	Impaired glucose tolerance	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0000819	Diabetes mellitus	3	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	HP:0003593 - Infantile onset	30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0012337	HP:0002151	Increased serum lactate	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0012337	HP:0001942	Metabolic acidosis	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0001943	Hypoglycemia	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0002151	Increased serum lactate	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0003128	Lactic acidosis	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0002151	Increased serum lactate	3	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012337	HP:0000819	Diabetes mellitus	3	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		169
HP:0012337	HP:0000819	Diabetes mellitus	3	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0012337	HP:0000282	Facial edema	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0012337	HP:0000282	Facial edema	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0012337	HP:0000819	Diabetes mellitus	3	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040281 - Very frequent		98
HP:0012337	HP:0001954	Recurrent fever	3	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0012337	HP:0001943	Hypoglycemia	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0012337	HP:0007430	Generalized edema	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0012337	HP:0001943	Hypoglycemia	3	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0012337	HP:0001942	Metabolic acidosis	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0012337	HP:0001943	Hypoglycemia	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		54
HP:0012337	HP:0003128	Lactic acidosis	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0012337	HP:0001943	Hypoglycemia	3	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	HP:0040282 - Frequent		54
HP:0012337	HP:0003128	Lactic acidosis	3	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0012337	HP:0001942	Metabolic acidosis	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0001943	Hypoglycemia	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0003128	Lactic acidosis	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0001943	Hypoglycemia	3	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0012337	HP:0001942	Metabolic acidosis	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0012337	HP:0001943	Hypoglycemia	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		48
HP:0012337	HP:0003128	Lactic acidosis	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0012337	HP:0001943	Hypoglycemia	3	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012337	HP:0002151	Increased serum lactate	3	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012337	HP:0003128	Lactic acidosis	3	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc	.		48
HP:0012337	HP:0000819	Diabetes mellitus	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0012337	HP:0000282	Facial edema	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012337	HP:0001004	Lymphedema	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012337	HP:0001789	Hydrops fetalis	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012337	HP:0002202	Pleural effusion	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012337	HP:0007430	Generalized edema	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0012337	HP:0031188	Genital edema	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0012337	HP:0001789	Hydrops fetalis	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0012337	HP:0001942	Metabolic acidosis	3	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0012337	HP:0010880	Increased nuchal translucency	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0012337	HP:0001004	Lymphedema	3	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	.		162
HP:0012337	HP:0000282	Facial edema	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0012337	HP:0000819	Diabetes mellitus	3	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040282 - Frequent		43
HP:0012337	HP:0000819	Diabetes mellitus	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome			43
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0012337	HP:0003074	Hyperglycemia	3	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0012337	HP:0002151	Increased serum lactate	3	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0012337	HP:0001789	Hydrops fetalis	3	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent		51
HP:0012337	HP:0001789	Hydrops fetalis	3	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0012337	HP:0010741	Pedal edema	3	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0012337	HP:0001943	Hypoglycemia	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0012337	HP:0000819	Diabetes mellitus	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0000819	Diabetes mellitus	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001993	Ketoacidosis	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0003074	Hyperglycemia	3	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0012337	HP:0000282	Facial edema	3	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0012337	HP:0100665	Angioedema	3	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3			21
HP:0012337	HP:0001789	Hydrops fetalis	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0012337	HP:0000282	Facial edema	3	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4			11
HP:0012337	HP:0100665	Angioedema	3	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4			11
HP:0012337	HP:0012027	Laryngeal edema	3	PLG CL E G H	5340	9071	OMIM:619360	ANGIOEDEMA, HEREDITARY, 4; HAE4			11
HP:0012337	HP:0000819	Diabetes mellitus	3	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.		19
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0012337	HP:0000819	Diabetes mellitus	3	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0012337	HP:0001942	Metabolic acidosis	3	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	HP:0040283 - Occasional		6
HP:0012337	HP:0002151	Increased serum lactate	3	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0012337	HP:0001943	Hypoglycemia	3	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040284 - Very rare		6
HP:0012337	HP:0003128	Lactic acidosis	3	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040284 - Very rare		6
HP:0012337	HP:0001942	Metabolic acidosis	3	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0012337	HP:0002202	Pleural effusion	3	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0012337	HP:0007430	Generalized edema	3	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0012337	HP:0100598	Pulmonary edema	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0012337	HP:0001789	Hydrops fetalis	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0012337	HP:0001004	Lymphedema	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare		150
HP:0012337	HP:0007430	Generalized edema	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0012337	HP:0001954	Recurrent fever	3	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent		79
HP:0012337	HP:0003128	Lactic acidosis	3	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional		7
HP:0012337	HP:0002151	Increased serum lactate	3	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0012337	HP:0000819	Diabetes mellitus	3	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional		65
HP:0012337	HP:0000819	Diabetes mellitus	3	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0012337	HP:0000819	Diabetes mellitus	3	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent		65
HP:0012337	HP:0000819	Diabetes mellitus	3	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0012337	HP:0002151	Increased serum lactate	3	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0012337	HP:0003128	Lactic acidosis	3	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0012337	HP:0001942	Metabolic acidosis	3	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0012337	HP:0001943	Hypoglycemia	3	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0012337	HP:0002151	Increased serum lactate	3	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0012337	HP:0001942	Metabolic acidosis	3	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0012337	HP:0001943	Hypoglycemia	3	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0012337	HP:0002151	Increased serum lactate	3	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0012337	HP:0002151	Increased serum lactate	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040281 - Very frequent		60
HP:0012337	HP:0002151	Increased serum lactate	3	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0012337	HP:0000819	Diabetes mellitus	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	HP:0040283 - Occasional		10
HP:0012337	HP:0001943	Hypoglycemia	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0012337	HP:0000819	Diabetes mellitus	3	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type			2
HP:0012337	HP:0000819	Diabetes mellitus	3	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0012337	HP:0000819	Diabetes mellitus	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0012337	HP:0002151	Increased serum lactate	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0012337	HP:0003128	Lactic acidosis	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0012337	HP:0002151	Increased serum lactate	3	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0012337	HP:0003128	Lactic acidosis	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0012337	HP:0002151	Increased serum lactate	3	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0012337	HP:0002151	Increased serum lactate	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0012337	HP:0002151	Increased serum lactate	3	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0012337	HP:0000819	Diabetes mellitus	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0012337	HP:0002151	Increased serum lactate	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0012337	HP:0001942	Metabolic acidosis	3	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.		45
HP:0012337	HP:0002151	Increased serum lactate	3	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.		45
HP:0012337	HP:0002151	Increased serum lactate	3	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0012337	HP:0040270	Impaired glucose tolerance	3	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0012337	HP:0000819	Diabetes mellitus	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0012337	HP:0001942	Metabolic acidosis	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012337	HP:0002151	Increased serum lactate	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012337	HP:0001943	Hypoglycemia	3	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0012337	HP:0001943	Hypoglycemia	3	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0012337	HP:0000819	Diabetes mellitus	3	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0012337	HP:0040049	Macular edema	3	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0012337	HP:0000282	Facial edema	3	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2			2
HP:0012337	HP:0001943	Hypoglycemia	3	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		36
HP:0012337	HP:0000282	Facial edema	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0012337	HP:0001943	Hypoglycemia	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		36
HP:0012337	HP:0000282	Facial edema	3	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012337	HP:0001942	Metabolic acidosis	3	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	HP:0040283 - Occasional		8
HP:0012337	HP:0000819	Diabetes mellitus	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040282 - Frequent		42
HP:0012337	HP:0000819	Diabetes mellitus	3	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent			42
HP:0012337	HP:0000819	Diabetes mellitus	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0012337	HP:0003074	Hyperglycemia	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0012337	HP:0000819	Diabetes mellitus	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent		42
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent		42
HP:0012337	HP:0002151	Increased serum lactate	3	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0012337	HP:0001943	Hypoglycemia	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional
HP:0012337	HP:0003128	Lactic acidosis	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent
HP:0012337	HP:0001943	Hypoglycemia	3	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012337	HP:0000819	Diabetes mellitus	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0001943	Hypoglycemia	3	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		2
HP:0012337	HP:0000819	Diabetes mellitus	3	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent			12
HP:0012337	HP:0001943	Hypoglycemia	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0012337	HP:0001943	Hypoglycemia	3	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0012337	HP:0000819	Diabetes mellitus	3	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0012337	HP:0001942	Metabolic acidosis	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0012337	HP:0002912	Methylmalonic acidemia	3	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0012337	HP:0001943	Hypoglycemia	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0012337	HP:0003128	Lactic acidosis	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent		7
HP:0012337	HP:0001954	Recurrent fever	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0012337	HP:0007430	Generalized edema	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.		58
HP:0012337	HP:0000819	Diabetes mellitus	3	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0012337	HP:0000819	Diabetes mellitus	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		2
HP:0012337	HP:0001943	Hypoglycemia	3	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0012337	HP:0100598	Pulmonary edema	3	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.		235
HP:0012337	HP:0000819	Diabetes mellitus	3	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040282 - Frequent		134
HP:0012337	HP:0000819	Diabetes mellitus	3	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0012337	HP:0010741	Pedal edema	3	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional		134
HP:0012337	HP:0000819	Diabetes mellitus	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		134
HP:0012337	HP:0001789	Hydrops fetalis	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		10
HP:0012337	HP:0001954	Recurrent fever	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0012337	HP:0000819	Diabetes mellitus	3	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	HP:0040283 - Occasional		9
HP:0012337	HP:0001943	Hypoglycemia	3	PROKR2 CL E G H	128674	15836	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		34
HP:0012337	HP:0000819	Diabetes mellitus	3	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0012337	HP:0000819	Diabetes mellitus	3	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0012337	HP:0001943	Hypoglycemia	3	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		54
HP:0012337	HP:0000282	Facial edema	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0012337	HP:0001943	Hypoglycemia	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional		54
HP:0012337	HP:0001943	Hypoglycemia	3	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		54
HP:0012337	HP:0001943	Hypoglycemia	3	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2			54
HP:0012337	HP:0002151	Increased serum lactate	3	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012337	HP:0003074	Hyperglycemia	3	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0012337	HP:0000819	Diabetes mellitus	3	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0012337	HP:0000819	Diabetes mellitus	3	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0012337	HP:0040049	Macular edema	3	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0012337	HP:0000819	Diabetes mellitus	3	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0012337	HP:0000819	Diabetes mellitus	3	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0012337	HP:0000819	Diabetes mellitus	3	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0012337	HP:0040049	Macular edema	3	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0012337	HP:0000819	Diabetes mellitus	3	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0012337	HP:0040049	Macular edema	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0012337	HP:0002181	Cerebral edema	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0012337	HP:0000819	Diabetes mellitus	3	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		51
HP:0012337	HP:0000819	Diabetes mellitus	3	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0012337	HP:0002202	Pleural effusion	3	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0012337	HP:0000819	Diabetes mellitus	3	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		1
HP:0012337	HP:0000819	Diabetes mellitus	3	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0012337	HP:0002202	Pleural effusion	3	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0012337	HP:0000282	Facial edema	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0012337	HP:0001955	Unexplained fevers	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		81
HP:0012337	HP:0000282	Facial edema	3	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0001954	Recurrent fever	3	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0001954	Recurrent fever	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012337	HP:0040270	Impaired glucose tolerance	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0012337	HP:0000282	Facial edema	3	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0001954	Recurrent fever	3	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0012337	HP:0001954	Recurrent fever	3	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0012337	HP:0000282	Facial edema	3	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0012337	HP:0000819	Diabetes mellitus	3	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome			96
HP:0012337	HP:0000819	Diabetes mellitus	3	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0012337	HP:0001004	Lymphedema	3	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0012337	HP:0001943	Hypoglycemia	3	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0012337	HP:0001004	Lymphedema	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent		948
HP:0012337	HP:0000819	Diabetes mellitus	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0012337	HP:0001943	Hypoglycemia	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0012337	HP:0003074	Hyperglycemia	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0012337	HP:0000819	Diabetes mellitus	3	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0012337	HP:0001789	Hydrops fetalis	3	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040282 - Frequent		58
HP:0012337	HP:0001789	Hydrops fetalis	3	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0012337	HP:0000819	Diabetes mellitus	3	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0001004	Lymphedema	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		291
HP:0012337	HP:0001004	Lymphedema	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0012337	HP:0002202	Pleural effusion	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0012337	HP:0001004	Lymphedema	3	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema	.		1
HP:0012337	HP:0001386	Joint swelling	3	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0012337	HP:0011134	Low-grade fever	3	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		3
HP:0012337	HP:0001993	Ketoacidosis	3	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		3
HP:0012337	HP:0003074	Hyperglycemia	3	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.		3
HP:0012337	HP:0000282	Facial edema	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0012337	HP:0001386	Joint swelling	3	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0001386	Joint swelling	3	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0012337	HP:0011134	Low-grade fever	3	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0012337	HP:0000282	Facial edema	3	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0012337	HP:0000819	Diabetes mellitus	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0012337	HP:0000819	Diabetes mellitus	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	HP:0040284 - Very rare		6
HP:0012337	HP:0001954	Recurrent fever	3	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0012337	HP:0003128	Lactic acidosis	3	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		57
HP:0012337	HP:0002151	Increased serum lactate	3	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0012337	HP:0003128	Lactic acidosis	3	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0012337	HP:0000819	Diabetes mellitus	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0001943	Hypoglycemia	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent		71
HP:0012337	HP:0002151	Increased serum lactate	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012337	HP:0003128	Lactic acidosis	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0012337	HP:0001943	Hypoglycemia	3	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0012337	HP:0001954	Recurrent fever	3	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0012337	HP:0001789	Hydrops fetalis	3	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0001943	Hypoglycemia	3	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0003128	Lactic acidosis	3	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0000819	Diabetes mellitus	3	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0012337	HP:0010880	Increased nuchal translucency	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0012337	HP:0001004	Lymphedema	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		212
HP:0012337	HP:0002181	Cerebral edema	3	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.		57
HP:0012337	HP:0002181	Cerebral edema	3	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0012337	HP:0002151	Increased serum lactate	3	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0012337	HP:0002151	Increased serum lactate	3	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0012337	HP:0001004	Lymphedema	3	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional		88
HP:0012337	HP:0001789	Hydrops fetalis	3	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0012337	HP:0002202	Pleural effusion	3	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0012337	HP:0001004	Lymphedema	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		3
HP:0012337	HP:0001789	Hydrops fetalis	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0012337	HP:0001386	Joint swelling	3	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		365
HP:0012337	HP:0001942	Metabolic acidosis	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012337	HP:0001954	Recurrent fever	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012337	HP:0010741	Pedal edema	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012337	HP:0000819	Diabetes mellitus	3	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0012337	HP:0000819	Diabetes mellitus	3	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0012337	HP:0040049	Macular edema	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0012337	HP:0000282	Facial edema	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0012337	HP:0000819	Diabetes mellitus	3	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0012337	HP:0040049	Macular edema	3	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77			5
HP:0012337	HP:0001954	Recurrent fever	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0012337	HP:0001004	Lymphedema	3	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2			334
HP:0012337	HP:0001943	Hypoglycemia	3	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0012337	HP:0000819	Diabetes mellitus	3	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent			1
HP:0012337	HP:0000282	Facial edema	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0003074	Hyperglycemia	3	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.		28
HP:0012337	HP:0000819	Diabetes mellitus	3	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0012337	HP:0001789	Hydrops fetalis	3	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0012337	HP:0000819	Diabetes mellitus	3	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0012337	HP:0040049	Macular edema	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0012337	HP:0003074	Hyperglycemia	3	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0012337	HP:0000282	Facial edema	3	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0012337	HP:0000282	Facial edema	3	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0012337	HP:0001954	Recurrent fever	3	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0012337	HP:0001004	Lymphedema	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		39
HP:0012337	HP:0002202	Pleural effusion	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0012337	HP:0000819	Diabetes mellitus	3	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0012337	HP:0040049	Macular edema	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0012337	HP:0001942	Metabolic acidosis	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0012337	HP:0002151	Increased serum lactate	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0012337	HP:0003128	Lactic acidosis	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0012337	HP:0002151	Increased serum lactate	3	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0012337	HP:0000819	Diabetes mellitus	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0012337	HP:0001955	Unexplained fevers	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0012337	HP:0000819	Diabetes mellitus	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0012337	HP:0001955	Unexplained fevers	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0012337	HP:0000819	Diabetes mellitus	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0012337	HP:0001955	Unexplained fevers	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0012337	HP:0001943	Hypoglycemia	3	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012337	HP:0010741	Pedal edema	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0012337	HP:0001954	Recurrent fever	3	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent		7
HP:0012337	HP:0001954	Recurrent fever	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0012337	HP:0000819	Diabetes mellitus	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001955	Unexplained fevers	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0012337	HP:0001943	Hypoglycemia	3	ROBO1 CL E G H	6091	10249	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		7
HP:0012337	HP:0000819	Diabetes mellitus	3	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0012337	HP:0000819	Diabetes mellitus	3	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0012337	HP:0000819	Diabetes mellitus	3	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0012337	HP:0040049	Macular edema	3	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0012337	HP:0000819	Diabetes mellitus	3	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0012337	HP:0000819	Diabetes mellitus	3	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0012337	HP:0040049	Macular edema	3	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	HP:0040283 - Occasional		14
HP:0012337	HP:0000819	Diabetes mellitus	3	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0012337	HP:0000819	Diabetes mellitus	3	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0012337	HP:0001789	Hydrops fetalis	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0012337	HP:0001789	Hydrops fetalis	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0012337	HP:0001004	Lymphedema	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001004	Lymphedema	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0000819	Diabetes mellitus	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0012337	HP:0002151	Increased serum lactate	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0012337	HP:0003128	Lactic acidosis	3	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0012337	HP:0003128	Lactic acidosis	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0012337	HP:0001942	Metabolic acidosis	3	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012337	HP:0000819	Diabetes mellitus	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0012337	HP:0000819	Diabetes mellitus	3	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0012337	HP:0000819	Diabetes mellitus	3	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0012337	HP:0003128	Lactic acidosis	3	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional		1200
HP:0012337	HP:0001942	Metabolic acidosis	3	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		1200
HP:0012337	HP:0001942	Metabolic acidosis	3	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1			1200
HP:0012337	HP:0001789	Hydrops fetalis	3	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0012337	HP:0000819	Diabetes mellitus	3	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0012337	HP:0001943	Hypoglycemia	3	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0012337	HP:0000819	Diabetes mellitus	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0012337	HP:0001955	Unexplained fevers	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0012337	HP:0000819	Diabetes mellitus	3	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0012337	HP:0005977	Hypochloremic metabolic alkalosis	3	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0012337	HP:0000819	Diabetes mellitus	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		26
HP:0012337	HP:0000819	Diabetes mellitus	3	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0012337	HP:0010741	Pedal edema	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional		77
HP:0012337	HP:0002181	Cerebral edema	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0012337	HP:0003074	Hyperglycemia	3	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0012337	HP:0001789	Hydrops fetalis	3	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0012337	HP:0001942	Metabolic acidosis	3	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent		67
HP:0012337	HP:0200114	Metabolic alkalosis	3	SCNN1A CL E G H	6337	10599	OMIM:618126	Liddle syndrome 3	.		67
HP:0012337	HP:0001942	Metabolic acidosis	3	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.		67
HP:0012337	HP:0001942	Metabolic acidosis	3	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent		61
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.		61
HP:0012337	HP:0200114	Metabolic alkalosis	3	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.		61
HP:0012337	HP:0001942	Metabolic acidosis	3	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent		57
HP:0012337	HP:0200114	Metabolic alkalosis	3	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2	.		57
HP:0012337	HP:0001942	Metabolic acidosis	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0012337	HP:0001943	Hypoglycemia	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0012337	HP:0002151	Increased serum lactate	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0012337	HP:0002151	Increased serum lactate	3	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent		40
HP:0012337	HP:0002151	Increased serum lactate	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.		40
HP:0012337	HP:0003128	Lactic acidosis	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.		40
HP:0012337	HP:0001942	Metabolic acidosis	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0012337	HP:0002151	Increased serum lactate	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0012337	HP:0002151	Increased serum lactate	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0012337	HP:0002151	Increased serum lactate	3	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0012337	HP:0003128	Lactic acidosis	3	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0012337	HP:0002151	Increased serum lactate	3	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0012337	HP:0003128	Lactic acidosis	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0012337	HP:0001943	Hypoglycemia	3	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0012337	HP:0000819	Diabetes mellitus	3	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0000819	Diabetes mellitus	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0012337	HP:0002202	Pleural effusion	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0012337	HP:0001943	Hypoglycemia	3	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0012337	HP:0002151	Increased serum lactate	3	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0012337	HP:0003128	Lactic acidosis	3	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0012337	HP:0000282	Facial edema	3	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0012337	HP:0100665	Angioedema	3	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.		64
HP:0012337	HP:0005225	Intestinal edema	3	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.		64
HP:0012337	HP:0011855	Pharyngeal edema	3	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.		64
HP:0012337	HP:0012027	Laryngeal edema	3	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.		64
HP:0012337	HP:0000282	Facial edema	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent		64
HP:0012337	HP:0005225	Intestinal edema	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent		64
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent		64
HP:0012337	HP:0040315	Tongue edema	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent		64
HP:0012337	HP:0011855	Pharyngeal edema	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040283 - Occasional		64
HP:0012337	HP:0012027	Laryngeal edema	3	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent		64
HP:0012337	HP:0001943	Hypoglycemia	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0012337	HP:0010741	Pedal edema	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0012337	HP:0100598	Pulmonary edema	3	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		51
HP:0012337	HP:0100598	Pulmonary edema	3	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		33
HP:0012337	HP:0002151	Increased serum lactate	3	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0012337	HP:0003128	Lactic acidosis	3	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0012337	HP:0001943	Hypoglycemia	3	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0012337	HP:0001954	Recurrent fever	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0012337	HP:0001954	Recurrent fever	3	SH3KBP1 CL E G H	30011	13867	OMIM:300310	Immunodeficiency 61	.		2
HP:0012337	HP:0000282	Facial edema	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0012337	HP:0001004	Lymphedema	3	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040283 - Occasional		53
HP:0012337	HP:0000282	Facial edema	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0001004	Lymphedema	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0000819	Diabetes mellitus	3	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0012337	HP:0001993	Ketoacidosis	3	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature			66
HP:0012337	HP:0003074	Hyperglycemia	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0012337	HP:0000819	Diabetes mellitus	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0012337	HP:0000819	Diabetes mellitus	3	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012337	HP:0000819	Diabetes mellitus	3	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012337	HP:0200114	Metabolic alkalosis	3	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012337	HP:0001949	Hypokalemic alkalosis	3	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.		145
HP:0012337	HP:0001954	Recurrent fever	3	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0012337	HP:0001993	Ketoacidosis	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0012337	HP:0200114	Metabolic alkalosis	3	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional		145
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0012337	HP:0001943	Hypoglycemia	3	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0012337	HP:0001943	Hypoglycemia	3	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency			74
HP:0012337	HP:0001993	Ketoacidosis	3	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.		74
HP:0012337	HP:0001789	Hydrops fetalis	3	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent		55
HP:0012337	HP:0002151	Increased serum lactate	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0012337	HP:0001943	Hypoglycemia	3	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria			71
HP:0012337	HP:0001386	Joint swelling	3	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0012337	HP:0001943	Hypoglycemia	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0012337	HP:0002151	Increased serum lactate	3	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012337	HP:0002151	Increased serum lactate	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0012337	HP:0002181	Cerebral edema	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0012337	HP:0002181	Cerebral edema	3	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.		82
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent		82
HP:0012337	HP:0001950	Respiratory alkalosis	3	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040283 - Occasional		88
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent		36
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.		36
HP:0012337	HP:0001943	Hypoglycemia	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0001943	Hypoglycemia	3	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.		40
HP:0012337	HP:0002151	Increased serum lactate	3	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28	.		5
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040281 - Very frequent		35
HP:0012337	HP:0002151	Increased serum lactate	3	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040281 - Very frequent		35
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040281 - Very frequent		35
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0012337	HP:0002151	Increased serum lactate	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		68
HP:0012337	HP:0002151	Increased serum lactate	3	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.		68
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	.		68
HP:0012337	HP:0002151	Increased serum lactate	3	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.		1
HP:0012337	HP:0003128	Lactic acidosis	3	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.		1
HP:0012337	HP:0001789	Hydrops fetalis	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0012337	HP:0001789	Hydrops fetalis	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0012337	HP:0200114	Metabolic alkalosis	3	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0012337	HP:0000282	Facial edema	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0012337	HP:0001954	Recurrent fever	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent			71
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional		71
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent		71
HP:0012337	HP:0001943	Hypoglycemia	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0012337	HP:0003074	Hyperglycemia	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0012337	HP:0040270	Impaired glucose tolerance	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent		71
HP:0012337	HP:0012468	Chronic acidosis	3	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.		71
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent			3
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0001943	Hypoglycemia	3	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040284 - Very rare		47
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0012398	Peripheral edema	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0012337	HP:0000282	Facial edema	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012337	HP:0001954	Recurrent fever	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent		71
HP:0012337	HP:0001004	Lymphedema	3	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0012337	HP:0001789	Hydrops fetalis	3	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012337	HP:0001943	Hypoglycemia	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent		110
HP:0012337	HP:0003128	Lactic acidosis	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040281 - Very frequent		110
HP:0012337	HP:0001943	Hypoglycemia	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0012337	HP:0003128	Lactic acidosis	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0012337	HP:0001943	Hypoglycemia	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0012337	HP:0003128	Lactic acidosis	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0012337	HP:0001943	Hypoglycemia	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0012337	HP:0003128	Lactic acidosis	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040282 - Frequent		55
HP:0012337	HP:0001386	Joint swelling	3	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040281 - Very frequent		56
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0012337	HP:0040270	Impaired glucose tolerance	3	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4	.		56
HP:0012337	HP:0001954	Recurrent fever	3	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0012337	HP:0012040	Corneal stromal edema	3	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040281 - Very frequent		66
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.		89
HP:0012337	HP:0032066	Decreased serum bicarbonate concentration	3	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency	.		3
HP:0012337	HP:0001943	Hypoglycemia	3	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency	.		3
HP:0012337	HP:0003128	Lactic acidosis	3	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0012337	HP:0001942	Metabolic acidosis	3	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.		74
HP:0012337	HP:0001986	Hypertonic dehydration	3	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.		74
HP:0012337	HP:0040270	Impaired glucose tolerance	3	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption			74
HP:0012337	HP:0000282	Facial edema	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		59
HP:0012337	HP:0000819	Diabetes mellitus	3	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0012337	HP:0002151	Increased serum lactate	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0012337	HP:0001386	Joint swelling	3	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		13
HP:0012337	HP:0000819	Diabetes mellitus	3	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		504
HP:0012337	HP:0010880	Increased nuchal translucency	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0012337	HP:0010880	Increased nuchal translucency	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0012337	HP:0000282	Facial edema	3	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0012337	HP:0000819	Diabetes mellitus	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0012337	HP:0002181	Cerebral edema	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0012337	HP:0000819	Diabetes mellitus	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0012337	HP:0000819	Diabetes mellitus	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0012337	HP:0010741	Pedal edema	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0012337	HP:0000819	Diabetes mellitus	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0012337	HP:0010741	Pedal edema	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0012337	HP:0000819	Diabetes mellitus	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0012337	HP:0010741	Pedal edema	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0012337	HP:0000282	Facial edema	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012337	HP:0002151	Increased serum lactate	3	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0012337	HP:0001004	Lymphedema	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		315
HP:0012337	HP:0001004	Lymphedema	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional		30
HP:0012337	HP:0000282	Facial edema	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0012337	HP:0001004	Lymphedema	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0012337	HP:0001789	Hydrops fetalis	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0012337	HP:0000282	Facial edema	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0012337	HP:0000282	Facial edema	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012337	HP:0001004	Lymphedema	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0012337	HP:0001004	Lymphedema	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0012337	HP:0001789	Hydrops fetalis	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040283 - Occasional		7
HP:0012337	HP:0001789	Hydrops fetalis	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012337	HP:0002202	Pleural effusion	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040283 - Occasional		7
HP:0012337	HP:0000819	Diabetes mellitus	3	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0012337	HP:0001943	Hypoglycemia	3	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent		24
HP:0012337	HP:0000819	Diabetes mellitus	3	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0012337	HP:0000819	Diabetes mellitus	3	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0012337	HP:0001004	Lymphedema	3	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0012337	HP:0000819	Diabetes mellitus	3	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0012337	HP:0000819	Diabetes mellitus	3	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		34
HP:0012337	HP:0000819	Diabetes mellitus	3	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0012337	HP:0002202	Pleural effusion	3	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0012337	HP:0000819	Diabetes mellitus	3	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0012337	HP:0000819	Diabetes mellitus	3	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012337	HP:0001986	Hypertonic dehydration	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome			100
HP:0012337	HP:0100665	Angioedema	3	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0012337	HP:0002202	Pleural effusion	3	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0012337	HP:0001004	Lymphedema	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001789	Hydrops fetalis	3	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		228
HP:0012337	HP:0001789	Hydrops fetalis	3	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		156
HP:0012337	HP:0000282	Facial edema	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0001954	Recurrent fever	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0003128	Lactic acidosis	3	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0012337	HP:0012538	Gluten intolerance	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0012337	HP:0000819	Diabetes mellitus	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0012337	HP:0010880	Increased nuchal translucency	3	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0012337	HP:0001943	Hypoglycemia	3	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0012337	HP:0000819	Diabetes mellitus	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0012337	HP:0000819	Diabetes mellitus	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional		89
HP:0012337	HP:0002151	Increased serum lactate	3	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44			9
HP:0012337	HP:0001954	Recurrent fever	3	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0012337	HP:0000819	Diabetes mellitus	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0012337	HP:0000819	Diabetes mellitus	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0003074	Hyperglycemia	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		110
HP:0012337	HP:0002202	Pleural effusion	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0012337	HP:0002202	Pleural effusion	3	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent		2
HP:0012337	HP:0001386	Joint swelling	3	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0012337	HP:0011134	Low-grade fever	3	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0012337	HP:0001943	Hypoglycemia	3	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0012337	HP:0001954	Recurrent fever	3	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.		31
HP:0012337	HP:0001954	Recurrent fever	3	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0012337	HP:0000819	Diabetes mellitus	3	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0012337	HP:0000819	Diabetes mellitus	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0012337	HP:0001954	Recurrent fever	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0012337	HP:0000282	Facial edema	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001942	Metabolic acidosis	3	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0012337	HP:0001942	Metabolic acidosis	3	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent		1
HP:0012337	HP:0001954	Recurrent fever	3	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0012337	HP:0002912	Methylmalonic acidemia	3	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0012337	HP:0003128	Lactic acidosis	3	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0012337	HP:0001943	Hypoglycemia	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0012337	HP:0002151	Increased serum lactate	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0012337	HP:0002912	Methylmalonic acidemia	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040280 - Obligate		60
HP:0012337	HP:0003128	Lactic acidosis	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0012337	HP:0001943	Hypoglycemia	3	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0003128	Lactic acidosis	3	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0012337	HP:0000819	Diabetes mellitus	3	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0012337	HP:0001993	Ketoacidosis	3	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional		8
HP:0012337	HP:0003530	Elevated circulating glutaric acid concentration	3	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional		8
HP:0012337	HP:0000282	Facial edema	3	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0012337	HP:0001942	Metabolic acidosis	3	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0012337	HP:0002151	Increased serum lactate	3	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0012337	HP:0001942	Metabolic acidosis	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0012337	HP:0002151	Increased serum lactate	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0012337	HP:0002151	Increased serum lactate	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0012337	HP:0001942	Metabolic acidosis	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0012337	HP:0002151	Increased serum lactate	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0012337	HP:0003128	Lactic acidosis	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0012337	HP:0001386	Joint swelling	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012337	HP:0001954	Recurrent fever	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0012337	HP:0002151	Increased serum lactate	3	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.		9
HP:0012337	HP:0002151	Increased serum lactate	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0012337	HP:0003128	Lactic acidosis	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012337	HP:0001789	Hydrops fetalis	3	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040282 - Frequent		34
HP:0012337	HP:0001942	Metabolic acidosis	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0012337	HP:0001943	Hypoglycemia	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012337	HP:0002151	Increased serum lactate	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0012337	HP:0003128	Lactic acidosis	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0012337	HP:0001943	Hypoglycemia	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012337	HP:0002151	Increased serum lactate	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040281 - Very frequent		12
HP:0012337	HP:0003128	Lactic acidosis	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0012337	HP:0001942	Metabolic acidosis	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012337	HP:0001789	Hydrops fetalis	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.		2
HP:0012337	HP:0002202	Pleural effusion	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0012337	HP:0002151	Increased serum lactate	3	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.		28
HP:0012337	HP:0000282	Facial edema	3	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0012337	HP:0002181	Cerebral edema	3	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		20
HP:0012337	HP:0000282	Facial edema	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001943	Hypoglycemia	3	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated			57
HP:0012337	HP:0001943	Hypoglycemia	3	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0012337	HP:0010741	Pedal edema	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		20
HP:0012337	HP:0000819	Diabetes mellitus	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0012337	HP:0002202	Pleural effusion	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0012337	HP:0000819	Diabetes mellitus	3	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent			4
HP:0012337	HP:0000819	Diabetes mellitus	3	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0012337	HP:0000819	Diabetes mellitus	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0012337	HP:0000819	Diabetes mellitus	3	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0012337	HP:0000819	Diabetes mellitus	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0012337	HP:0011134	Low-grade fever	3	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		3
HP:0012337	HP:0001943	Hypoglycemia	3	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.		1
HP:0012337	HP:0001943	Hypoglycemia	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012337	HP:0000282	Facial edema	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		155
HP:0012337	HP:0000282	Facial edema	3	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0012337	HP:0012040	Corneal stromal edema	3	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent		58
HP:0012337	HP:0000819	Diabetes mellitus	3	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent		98
HP:0012337	HP:0010741	Pedal edema	3	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby			98
HP:0012337	HP:0000819	Diabetes mellitus	3	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0012337	HP:0002181	Cerebral edema	3	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		6
HP:0012337	HP:0001004	Lymphedema	3	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0012337	HP:0010741	Pedal edema	3	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0012337	HP:0002151	Increased serum lactate	3	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012337	HP:0002151	Increased serum lactate	3	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0012337	HP:0002151	Increased serum lactate	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0012337	HP:0000819	Diabetes mellitus	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0012337	HP:0001943	Hypoglycemia	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0012337	HP:0003128	Lactic acidosis	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0012337	HP:0000819	Diabetes mellitus	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0012337	HP:0003128	Lactic acidosis	3	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0012337	HP:0002151	Increased serum lactate	3	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.		103
HP:0012337	HP:0003128	Lactic acidosis	3	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0012337	HP:0000819	Diabetes mellitus	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0012337	HP:0012398	Peripheral edema	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0012337	HP:0010741	Pedal edema	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		6
HP:0012337	HP:0002181	Cerebral edema	3	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		3
HP:0012337	HP:0002202	Pleural effusion	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0012337	HP:0001954	Recurrent fever	3	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0012337	HP:0000819	Diabetes mellitus	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012337	HP:0000819	Diabetes mellitus	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		4
HP:0012337	HP:0001943	Hypoglycemia	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0012337	HP:0003128	Lactic acidosis	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0012337	HP:0002151	Increased serum lactate	3	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0012337	HP:0001955	Unexplained fevers	3	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	HP:0040283 - Occasional		24
HP:0012337	HP:0007430	Generalized edema	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0012337	HP:0000282	Facial edema	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002151	Increased serum lactate	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0012337	HP:0003128	Lactic acidosis	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0012337	HP:0007609	Hypoproteinemic edema	3	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency	.		5
HP:0012337	HP:0001954	Recurrent fever	3	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL			26
HP:0012337	HP:0001386	Joint swelling	3	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent		44
HP:0012337	HP:0001386	Joint swelling	3	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis	HP:0040281 - Very frequent		131
HP:0012337	HP:0000282	Facial edema	3	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012337	HP:0001954	Recurrent fever	3	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012337	HP:0000282	Facial edema	3	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0012337	HP:0001954	Recurrent fever	3	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent		131
HP:0012337	HP:0100598	Pulmonary edema	3	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		180
HP:0012337	HP:0012398	Peripheral edema	3	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		180
HP:0012337	HP:0100598	Pulmonary edema	3	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		248
HP:0012337	HP:0012398	Peripheral edema	3	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		248
HP:0012337	HP:0000819	Diabetes mellitus	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0012337	HP:0000819	Diabetes mellitus	3	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0012337	HP:0000819	Diabetes mellitus	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		911
HP:0012337	HP:0040270	Impaired glucose tolerance	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0012337	HP:0010741	Pedal edema	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0012337	HP:0000819	Diabetes mellitus	3	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		911
HP:0012337	HP:0001386	Joint swelling	3	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent		911
HP:0012337	HP:0002151	Increased serum lactate	3	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0012337	HP:0003128	Lactic acidosis	3	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	.		21
HP:0012337	HP:0000282	Facial edema	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		92
HP:0012337	HP:0002181	Cerebral edema	3	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		2
HP:0012337	HP:0001386	Joint swelling	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0012337	HP:0000819	Diabetes mellitus	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0012337	HP:0001955	Unexplained fevers	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0012337	HP:0040049	Macular edema	3	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0012337	HP:0040049	Macular edema	3	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0012337	HP:0001789	Hydrops fetalis	3	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0012337	HP:0001789	Hydrops fetalis	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0012337	HP:0001789	Hydrops fetalis	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0012337	HP:0010880	Increased nuchal translucency	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0012337	HP:0010880	Increased nuchal translucency	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0000819	Diabetes mellitus	3	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional		7
HP:0012337	HP:0000819	Diabetes mellitus	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		7
HP:0012337	HP:0001943	Hypoglycemia	3	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent		7
HP:0012337	HP:0002151	Increased serum lactate	3	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.		3
HP:0012337	HP:0003128	Lactic acidosis	3	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.		3
HP:0012337	HP:0002151	Increased serum lactate	3	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0012337	HP:0003128	Lactic acidosis	3	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0012337	HP:0002151	Increased serum lactate	3	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.		101
HP:0012337	HP:0003128	Lactic acidosis	3	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.		101
HP:0012337	HP:0003128	Lactic acidosis	3	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0003128	Lactic acidosis	3	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0002151	Increased serum lactate	3	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0002151	Increased serum lactate	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0002151	Increased serum lactate	3	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0002151	Increased serum lactate	3	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0012337	HP:0002151	Increased serum lactate	3	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0012337	HP:0001942	Metabolic acidosis	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0002151	Increased serum lactate	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012337	HP:0002151	Increased serum lactate	3	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0001942	Metabolic acidosis	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0002151	Increased serum lactate	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012337	HP:0002151	Increased serum lactate	3	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0012337	HP:0003128	Lactic acidosis	3	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile	.
HP:0012337	HP:0001954	Recurrent fever	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012337	HP:0003128	Lactic acidosis	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012337	HP:0002151	Increased serum lactate	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0003128	Lactic acidosis	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012337	HP:0002151	Increased serum lactate	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0012337	HP:0000819	Diabetes mellitus	3	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0003128	Lactic acidosis	3	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0012337	HP:0000282	Facial edema	3	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0012337	HP:0001004	Lymphedema	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0012337	HP:0002202	Pleural effusion	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0012337	HP:0001004	Lymphedema	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0012337	HP:0002202	Pleural effusion	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0012337	HP:0002151	Increased serum lactate	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0012337	HP:0003128	Lactic acidosis	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0012337	HP:0000282	Facial edema	3	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0012337	HP:0001004	Lymphedema	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012337	HP:0040049	Macular edema	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0012337	HP:0001789	Hydrops fetalis	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0012337	HP:0001942	Metabolic acidosis	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012337	HP:0002151	Increased serum lactate	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012337	HP:0007430	Generalized edema	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012337	HP:0000819	Diabetes mellitus	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0012337	HP:0000819	Diabetes mellitus	3	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0012337	HP:0000819	Diabetes mellitus	3	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional		62
HP:0012337	HP:0000819	Diabetes mellitus	3	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0012337	HP:0001942	Metabolic acidosis	3	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012337	HP:0002151	Increased serum lactate	3	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.		55
HP:0012337	HP:0003128	Lactic acidosis	3	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0012337	HP:0000819	Diabetes mellitus	3	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0012337	HP:0000819	Diabetes mellitus	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0012337	HP:0002151	Increased serum lactate	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0012337	HP:0002151	Increased serum lactate	3	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.		113
HP:0012337	HP:0000819	Diabetes mellitus	3	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	HP:0040283 - Occasional		113
HP:0012337	HP:0002151	Increased serum lactate	3	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0012337	HP:0002151	Increased serum lactate	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0012337	HP:0002151	Increased serum lactate	3	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0012337	HP:0002151	Increased serum lactate	3	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0012337	HP:0002151	Increased serum lactate	3	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0012337	HP:0010880	Increased nuchal translucency	3	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0012337	HP:0001943	Hypoglycemia	3	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0012337	HP:0003128	Lactic acidosis	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0012337	HP:0003128	Lactic acidosis	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0012337	HP:0000819	Diabetes mellitus	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0012337	HP:0001954	Recurrent fever	3	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0012337	HP:0002202	Pleural effusion	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0012337	HP:0000819	Diabetes mellitus	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0012337	HP:0000819	Diabetes mellitus	3	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional		25
HP:0012337	HP:0007430	Generalized edema	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent		15
HP:0012337	HP:0001943	Hypoglycemia	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0012337	HP:0002181	Cerebral edema	3	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		5
HP:0012337	HP:0001942	Metabolic acidosis	3	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012337	HP:0002151	Increased serum lactate	3	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0012337	HP:0001942	Metabolic acidosis	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0012337	HP:0002151	Increased serum lactate	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012337	HP:0003128	Lactic acidosis	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012337	HP:0001943	Hypoglycemia	3	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9	.		6
HP:0012337	HP:0002151	Increased serum lactate	3	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9	.		6
HP:0012337	HP:0003128	Lactic acidosis	3	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9	.		6
HP:0012337	HP:0001942	Metabolic acidosis	3	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3	.		13
HP:0012337	HP:0001943	Hypoglycemia	3	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3	.		13
HP:0012337	HP:0002151	Increased serum lactate	3	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3	.		13
HP:0012337	HP:0001942	Metabolic acidosis	3	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012337	HP:0001943	Hypoglycemia	3	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012337	HP:0002151	Increased serum lactate	3	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0012337	HP:0003128	Lactic acidosis	3	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012337	HP:0002151	Increased serum lactate	3	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0012337	HP:0001789	Hydrops fetalis	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0012337	HP:0001789	Hydrops fetalis	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0012337	HP:0000819	Diabetes mellitus	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0012337	HP:0000819	Diabetes mellitus	3	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0012337	HP:0002202	Pleural effusion	3	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0012337	HP:0003128	Lactic acidosis	3	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.		2
HP:0012337	HP:0000819	Diabetes mellitus	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		1
HP:0012337	HP:0040270	Impaired glucose tolerance	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0012337	HP:0010741	Pedal edema	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0012337	HP:0000819	Diabetes mellitus	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		7
HP:0012337	HP:0040270	Impaired glucose tolerance	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0012337	HP:0010741	Pedal edema	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0012337	HP:0040270	Impaired glucose tolerance	3	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0012337	HP:0001789	Hydrops fetalis	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0012337	HP:0010880	Increased nuchal translucency	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0012337	HP:0000819	Diabetes mellitus	3	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0012337	HP:0000819	Diabetes mellitus	3	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0012337	HP:0030244	Maternal fever in pregnancy	3	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		2
HP:0012337	HP:0000819	Diabetes mellitus	3	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0012337	HP:0030244	Maternal fever in pregnancy	3	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		2
HP:0012337	HP:0003128	Lactic acidosis	3	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0012337	HP:0001004	Lymphedema	3	VEGFC CL E G H	7424	12682	OMIM:615907	Lymphedema, hereditary, ID	.		4
HP:0012337	HP:0040049	Macular edema	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0012337	HP:0001942	Metabolic acidosis	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0012337	HP:0001942	Metabolic acidosis	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0012337	HP:0000282	Facial edema	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012337	HP:0010880	Increased nuchal translucency	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0002202	Pleural effusion	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012337	HP:0012040	Corneal stromal edema	3	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0012337	HP:0001943	Hypoglycemia	3	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0012337	HP:0002151	Increased serum lactate	3	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0012337	HP:0003128	Lactic acidosis	3	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0012337	HP:0001943	Hypoglycemia	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0012337	HP:0002151	Increased serum lactate	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0012337	HP:0003128	Lactic acidosis	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0012337	HP:0001954	Recurrent fever	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0012337	HP:0001943	Hypoglycemia	3	WDR11 CL E G H	55717	13831	ORPHA:95496	Pituitary stalk interruption syndrome	HP:0040282 - Frequent		10
HP:0012337	HP:0001789	Hydrops fetalis	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0012337	HP:0001789	Hydrops fetalis	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0012337	HP:0001789	Hydrops fetalis	3	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0012337	HP:0000819	Diabetes mellitus	3	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent			389
HP:0012337	HP:0000819	Diabetes mellitus	3	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent		389
HP:0012337	HP:0000819	Diabetes mellitus	3	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0012337	HP:0000819	Diabetes mellitus	3	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040281 - Very frequent		389
HP:0012337	HP:0000819	Diabetes mellitus	3	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	HP:0040283 - Occasional		389
HP:0012337	HP:0040270	Impaired glucose tolerance	3	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	HP:0040284 - Very rare		389
HP:0012337	HP:0001942	Metabolic acidosis	3	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.		199
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC			199
HP:0012337	HP:0001942	Metabolic acidosis	3	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB			71
HP:0012337	HP:0001995	Hyperchloremic acidosis	3	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB			71
HP:0012337	HP:0001789	Hydrops fetalis	3	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional		13
HP:0012337	HP:0001943	Hypoglycemia	3	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0012337	HP:0000819	Diabetes mellitus	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0012337	HP:0000819	Diabetes mellitus	3	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.		310
HP:0012337	HP:0000819	Diabetes mellitus	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0012337	HP:0000282	Facial edema	3	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0012337	HP:0001954	Recurrent fever	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0012337	HP:0001954	Recurrent fever	3	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.		81
HP:0012337	HP:0100665	Angioedema	3	XPNPEP2 CL E G H	7512	12823	OMIM:300909	Acquired angioedema	.		4
HP:0012337	HP:0000282	Facial edema	3	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0100665	Angioedema	3	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0040315	Tongue edema	3	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0011855	Pharyngeal edema	3	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0012027	Laryngeal edema	3	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0000819	Diabetes mellitus	3	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0012337	HP:0000819	Diabetes mellitus	3	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		9
HP:0012337	HP:0000819	Diabetes mellitus	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.		9
HP:0012337	HP:0001004	Lymphedema	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0012337	HP:0001943	Hypoglycemia	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012337	HP:0002151	Increased serum lactate	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012337	HP:0003128	Lactic acidosis	3	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		45
HP:0012337	HP:0002151	Increased serum lactate	3	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0012337	HP:0003128	Lactic acidosis	3	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0012337	HP:0000819	Diabetes mellitus	3	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0012337	HP:0000825	Hyperinsulinemic hypoglycemia	3	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		7
HP:0012337	HP:0001943	Hypoglycemia	3	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0012337	HP:0008283	Fasting hyperinsulinemia	3	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		7
HP:0012337	HP:0000819	Diabetes mellitus	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0012337	HP:0012040	Corneal stromal edema	3	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0012337	HP:0012040	Corneal stromal edema	3	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0012337	HP:0001954	Recurrent fever	3	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0012337	HP:0000819	Diabetes mellitus	3	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0003074	Hyperglycemia	3	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.		30
HP:0012337	HP:0000819	Diabetes mellitus	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0001993	Ketoacidosis	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0003074	Hyperglycemia	3	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0012337	HP:0000819	Diabetes mellitus	3	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional		189
HP:0012337	HP:0000819	Diabetes mellitus	3	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0012337	HP:0000819	Diabetes mellitus	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0012337	HP:0003074	Hyperglycemia	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0012337	HP:0001004	Lymphedema	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0012337	HP:0040049	Macular edema	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0012337	HP:0000819	Diabetes mellitus	3	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0012337	HP:0000819	Diabetes mellitus	3	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0012337	HP:0033399	Persistent fever	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012337	HP:0001954	Recurrent fever	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012337	HP:0002202	Pleural effusion	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012337	HP:0000282	Facial edema	3	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0012337	HP:0007514	Edema of the dorsum of hands	3	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012337	HP:0010741	Pedal edema	3	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0010741	Pedal edema	3	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012337	HP:0012398	Peripheral edema	3	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0000819	Diabetes mellitus	3	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0012337	HP:0004788	Intestinal lymphedema	4	CL E G H
HP:0012337	HP:0004898	Persistent lactic acidosis	4	CL E G H
HP:0012337	HP:0011919	Pleural empyema	4	CL E G H
HP:0012337	HP:0011920	Transudative pleural effusion	4	CL E G H
HP:0012337	HP:0011921	Exudative pleural effusion	4	CL E G H
HP:0012337	HP:0012466	Chronic respiratory acidosis	4	CL E G H
HP:0012337	HP:0012467	Acute respiratory acidosis	4	CL E G H
HP:0012337	HP:0025691	Impaired fasting glucose	4	CL E G H
HP:0012337	HP:0030245	Intrapartum fever	4	CL E G H
HP:0012337	HP:0030246	Maternal first trimester fever	4	CL E G H
HP:0012337	HP:0033045	Bipedal edema	4	CL E G H
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		826
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent		245
HP:0012337	HP:0002173	Hypoglycemic seizures	4	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040284 - Very rare		245
HP:0012337	HP:0003162	Fasting hypoglycemia	4	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent		245
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ABCC8 CL E G H	6833	59	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		245
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0002173	Hypoglycemic seizures	4	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent		245
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare		245
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0012337	HP:0009800	Maternal diabetes	4	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		58
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040283 - Occasional		98
HP:0012337	HP:0004911	Episodic metabolic acidosis	4	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		90
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0012337	HP:0005974	Episodic ketoacidosis	4	ACAT1 CL E G H	38	93	OMIM:203750	Alpha-Methylacetoacetic aciduria	.		91
HP:0012337	HP:0100539	Periorbital edema	4	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0012337	HP:0100539	Periorbital edema	4	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0012337	HP:0100539	Periorbital edema	4	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		27
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0012337	HP:0100539	Periorbital edema	4	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0012337	HP:0010310	Chylothorax	4	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		2
HP:0012337	HP:0004901	Exercise-induced lactic acidemia	4	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0012337	HP:0000877	Insulin-resistant diabetes mellitus at puberty	4	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0012337	HP:0005978	Type II diabetes mellitus	4	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		175
HP:0012337	HP:0005978	Type II diabetes mellitus	4	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		2
HP:0012337	HP:0100539	Periorbital edema	4	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0012337	HP:0005978	Type II diabetes mellitus	4	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		95
HP:0012337	HP:0100651	Type I diabetes mellitus	4	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040282 - Frequent		12
HP:0012337	HP:0005978	Type II diabetes mellitus	4	AKT2 CL E G H	208	392	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		12
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0012337	HP:0002173	Hypoglycemic seizures	4	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0012337	HP:0001947	Renal tubular acidosis	4	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0012337	HP:0012051	Reactive hypoglycemia	4	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional		73
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0012337	HP:0010310	Chylothorax	4	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0012337	HP:0005978	Type II diabetes mellitus	4	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4	HP:0040281 - Very frequent		44
HP:0012337	HP:0100539	Periorbital edema	4	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012337	HP:0100539	Periorbital edema	4	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		6
HP:0012337	HP:0100539	Periorbital edema	4	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		1
HP:0012337	HP:0100539	Periorbital edema	4	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	APPL1 CL E G H	26060	24035	OMIM:616511	Maturity-onset diabetes of the young, type 14	.		2
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent		2
HP:0012337	HP:0004906	Hypernatremic dehydration	4	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent		75
HP:0012337	HP:0005978	Type II diabetes mellitus	4	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040283 - Occasional		125
HP:0012337	HP:0100539	Periorbital edema	4	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		4
HP:0012337	HP:0100539	Periorbital edema	4	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		6
HP:0012337	HP:0011505	Cystoid macular edema	4	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		3
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		1
HP:0012337	HP:0011505	Cystoid macular edema	4	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		29
HP:0012337	HP:0009800	Maternal diabetes	4	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040283 - Occasional		3267
HP:0012337	HP:0001947	Renal tubular acidosis	4	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0012337	HP:0001947	Renal tubular acidosis	4	ATP6V1B1 CL E G H	525	853	OMIM:267300	Renal tubular acidosis, distal, with progressive nerve deafness	.		67
HP:0012337	HP:0004906	Hypernatremic dehydration	4	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040281 - Very frequent		67
HP:0012337	HP:0100539	Periorbital edema	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		114
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		97
HP:0012337	HP:0100539	Periorbital edema	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001947	Renal tubular acidosis	4	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0012337	HP:0004925	Chronic lactic acidosis	4	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0004900	Severe lactic acidosis	4	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		182
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.		75
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent		75
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0012337	HP:0010310	Chylothorax	4	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012337	HP:0000877	Insulin-resistant diabetes mellitus at puberty	4	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0012337	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	4	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		53
HP:0012337	HP:0005979	Metabolic ketoacidosis	4	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040281 - Very frequent		223
HP:0012337	HP:0005979	Metabolic ketoacidosis	4	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0012337	HP:0010310	Chylothorax	4	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0012337	HP:0100539	Periorbital edema	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0004906	Hypernatremic dehydration	4	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.		4
HP:0012337	HP:0001947	Renal tubular acidosis	4	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012337	HP:0001947	Renal tubular acidosis	4	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		23
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent		247
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent		247
HP:0012337	HP:0001947	Renal tubular acidosis	4	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.		10
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0012337	HP:0100539	Periorbital edema	4	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0012337	HP:0100539	Periorbital edema	4	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional		35
HP:0012337	HP:0100651	Type I diabetes mellitus	4	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare		5
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional		5
HP:0012337	HP:0100651	Type I diabetes mellitus	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0012337	HP:0010310	Chylothorax	4	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	HP:0040283 - Occasional		317
HP:0012337	HP:0100539	Periorbital edema	4	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0012337	HP:0010310	Chylothorax	4	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0012337	HP:0100539	Periorbital edema	4	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		105
HP:0012337	HP:0100539	Periorbital edema	4	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		147
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0012337	HP:0009800	Maternal diabetes	4	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction	.		25
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent		25
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4			1
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	CELSR1 CL E G H	9620	1850	OMIM:619319	LYMPHATIC MALFORMATION 9; LMPHM9			13
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		71
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent		8
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0012337	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	4	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		9
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.		27
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0012337	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	4	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0012337	HP:0001947	Renal tubular acidosis	4	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0012337	HP:0100651	Type I diabetes mellitus	4	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0012337	HP:0009800	Maternal diabetes	4	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent		27
HP:0012337	HP:0001947	Renal tubular acidosis	4	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0012337	HP:0100539	Periorbital edema	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		60
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		44
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		164
HP:0012337	HP:0100651	Type I diabetes mellitus	4	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent		2
HP:0012337	HP:0001947	Renal tubular acidosis	4	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0012337	HP:0100539	Periorbital edema	4	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0012337	HP:0009800	Maternal diabetes	4	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional		284
HP:0012337	HP:0100539	Periorbital edema	4	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		161
HP:0012337	HP:0100539	Periorbital edema	4	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012337	HP:0100539	Periorbital edema	4	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012337	HP:0001947	Renal tubular acidosis	4	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0012337	HP:0004900	Severe lactic acidosis	4	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0012337	HP:0100539	Periorbital edema	4	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		35
HP:0012337	HP:0100651	Type I diabetes mellitus	4	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		5
HP:0012337	HP:0100651	Type I diabetes mellitus	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0012337	HP:0004900	Severe lactic acidosis	4	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012337	HP:0100651	Type I diabetes mellitus	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0100651	Type I diabetes mellitus	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0012337	HP:0001947	Renal tubular acidosis	4	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040283 - Occasional		99
HP:0012337	HP:0001947	Renal tubular acidosis	4	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent		101
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional		101
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		156
HP:0012337	HP:0100539	Periorbital edema	4	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		12
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		158
HP:0012337	HP:0100539	Periorbital edema	4	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		10
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0012337	HP:0001947	Renal tubular acidosis	4	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0004911	Episodic metabolic acidosis	4	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0012337	HP:0001947	Renal tubular acidosis	4	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0012337	HP:0001947	Renal tubular acidosis	4	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012337	HP:0009800	Maternal diabetes	4	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.		92
HP:0012337	HP:0005974	Episodic ketoacidosis	4	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6	.		12
HP:0012337	HP:0005979	Metabolic ketoacidosis	4	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6			12
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0012337	HP:0005978	Type II diabetes mellitus	4	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent		60
HP:0012337	HP:0011505	Cystoid macular edema	4	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0012337	HP:0100539	Periorbital edema	4	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.		80
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0012337	HP:0012050	Anasarca	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0012337	HP:0005978	Type II diabetes mellitus	4	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		47
HP:0012337	HP:0011505	Cystoid macular edema	4	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	HP:0040283 - Occasional		47
HP:0012337	HP:0005978	Type II diabetes mellitus	4	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		1
HP:0012337	HP:0009800	Maternal diabetes	4	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0012337	HP:0009800	Maternal diabetes	4	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0012337	HP:0005978	Type II diabetes mellitus	4	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional		25
HP:0012337	HP:0100651	Type I diabetes mellitus	4	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.		3
HP:0012337	HP:0100539	Periorbital edema	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0100651	Type I diabetes mellitus	4	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0012337	HP:0100539	Periorbital edema	4	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.		55
HP:0012337	HP:0012050	Anasarca	4	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0012337	HP:0100651	Type I diabetes mellitus	4	DUT CL E G H	1854	3078	OMIM:620044
HP:0012337	HP:0100539	Periorbital edema	4	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0012337	HP:0100651	Type I diabetes mellitus	4	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional		115
HP:0012337	HP:0100651	Type I diabetes mellitus	4	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional		11
HP:0012337	HP:0001947	Renal tubular acidosis	4	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0012337	HP:0100651	Type I diabetes mellitus	4	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040281 - Very frequent		65
HP:0012337	HP:0100539	Periorbital edema	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0032323	Periodic fever	4	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent		79
HP:0012337	HP:0100539	Periorbital edema	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0012337	HP:0100539	Periorbital edema	4	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		4
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ENPP1 CL E G H	5167	3356	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		151
HP:0012337	HP:0001947	Renal tubular acidosis	4	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent		40
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		3
HP:0012337	HP:0010310	Chylothorax	4	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		3
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0012337	HP:0100539	Periorbital edema	4	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional		3
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent		3
HP:0012337	HP:0005978	Type II diabetes mellitus	4	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		209
HP:0012337	HP:0001947	Renal tubular acidosis	4	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0012337	HP:0005978	Type II diabetes mellitus	4	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		56
HP:0012337	HP:0012050	Anasarca	4	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0012337	HP:0010310	Chylothorax	4	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0012337	HP:0005978	Type II diabetes mellitus	4	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0012337	HP:0003162	Fasting hypoglycemia	4	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent		64
HP:0012337	HP:0004913	Intermittent lactic acidemia	4	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent		64
HP:0012337	HP:0001947	Renal tubular acidosis	4	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional		384
HP:0012337	HP:0009800	Maternal diabetes	4	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional		5
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		2
HP:0012337	HP:0009800	Maternal diabetes	4	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0012337	HP:0009800	Maternal diabetes	4	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0012337	HP:0009800	Maternal diabetes	4	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0012337	HP:0100539	Periorbital edema	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0100651	Type I diabetes mellitus	4	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		11
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		90
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent		20
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0012337	HP:0010310	Chylothorax	4	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0012337	HP:0100539	Periorbital edema	4	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0012337	HP:0009800	Maternal diabetes	4	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0012337	HP:0100651	Type I diabetes mellitus	4	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent		32
HP:0012337	HP:0100651	Type I diabetes mellitus	4	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0012337	HP:0100539	Periorbital edema	4	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0012337	HP:0100539	Periorbital edema	4	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012337	HP:0100539	Periorbital edema	4	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome			1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		26
HP:0012337	HP:0009800	Maternal diabetes	4	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent		3
HP:0012337	HP:0003162	Fasting hypoglycemia	4	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0012337	HP:0100539	Periorbital edema	4	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012337	HP:0009800	Maternal diabetes	4	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent		29
HP:0012337	HP:0001947	Renal tubular acidosis	4	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent		37
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0012337	HP:0001947	Renal tubular acidosis	4	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		86
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0012337	HP:0003162	Fasting hypoglycemia	4	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		115
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GCK CL E G H	2645	4195	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		237
HP:0012337	HP:0100651	Type I diabetes mellitus	4	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM			237
HP:0012337	HP:0002173	Hypoglycemic seizures	4	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.		237
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040281 - Very frequent		237
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040281 - Very frequent		237
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040283 - Occasional		237
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		237
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	GCK CL E G H	2645	4195	OMIM:125851	Maturity-onset diabetes of the young, type II	.		237
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent		237
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		1
HP:0012337	HP:0009800	Maternal diabetes	4	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		68
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent		37
HP:0012337	HP:0009800	Maternal diabetes	4	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0012337	HP:0002173	Hypoglycemic seizures	4	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.		56
HP:0012337	HP:0012051	Reactive hypoglycemia	4	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040281 - Very frequent		56
HP:0012337	HP:0100539	Periorbital edema	4	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GPD2 CL E G H	2820	4456	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0012337	HP:0100539	Periorbital edema	4	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0012337	HP:0100651	Type I diabetes mellitus	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0012337	HP:0003162	Fasting hypoglycemia	4	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0012337	HP:0100539	Periorbital edema	4	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0012337	HP:0001996	Chronic metabolic acidosis	4	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency	.		39
HP:0012337	HP:0100539	Periorbital edema	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0100539	Periorbital edema	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0100539	Periorbital edema	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		36
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.		100
HP:0012337	HP:0003162	Fasting hypoglycemia	4	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.		100
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.		100
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040282 - Frequent		100
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040282 - Frequent		100
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		4
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0012337	HP:0003162	Fasting hypoglycemia	4	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0012337	HP:0002173	Hypoglycemic seizures	4	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0012337	HP:0002173	Hypoglycemic seizures	4	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.		41
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0012337	HP:0002173	Hypoglycemic seizures	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		99
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional		16
HP:0012337	HP:0005978	Type II diabetes mellitus	4	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0012337	HP:0009800	Maternal diabetes	4	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0012337	HP:0005978	Type II diabetes mellitus	4	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		86
HP:0012337	HP:0011505	Cystoid macular edema	4	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent		4
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0012337	HP:0100539	Periorbital edema	4	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0012337	HP:0100539	Periorbital edema	4	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		1
HP:0012337	HP:0100651	Type I diabetes mellitus	4	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0012337	HP:0100651	Type I diabetes mellitus	4	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0012337	HP:0010310	Chylothorax	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	HMGA1 CL E G H	3159	5010	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040281 - Very frequent		35
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0012337	HP:0100651	Type I diabetes mellitus	4	HNF1A CL E G H	6927	11621	OMIM:612520	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20			161
HP:0012337	HP:0005978	Type II diabetes mellitus	4	HNF1A CL E G H	6927	11621	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		161
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial	.		161
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent		161
HP:0012337	HP:0002173	Hypoglycemic seizures	4	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0012337	HP:0003162	Fasting hypoglycemia	4	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0012337	HP:0009800	Maternal diabetes	4	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0012337	HP:0012051	Reactive hypoglycemia	4	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III	.		161
HP:0012337	HP:0005978	Type II diabetes mellitus	4	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III	.		161
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent		161
HP:0012337	HP:0005978	Type II diabetes mellitus	4	HNF1B CL E G H	6928	11630	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		90
HP:0012337	HP:0001947	Renal tubular acidosis	4	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0012337	HP:0001947	Renal tubular acidosis	4	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney			90
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0012337	HP:0005978	Type II diabetes mellitus	4	HNF4A CL E G H	3172	5024	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		138
HP:0012337	HP:0001947	Renal tubular acidosis	4	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0012337	HP:0003162	Fasting hypoglycemia	4	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0012337	HP:0005979	Metabolic ketoacidosis	4	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent		138
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	HNF4A CL E G H	3172	5024	OMIM:125850	Maturity-onset diabetes of the young, type 1	.		138
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent		138
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent		14
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent		34
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0012337	HP:0009800	Maternal diabetes	4	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0012337	HP:0003162	Fasting hypoglycemia	4	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent		25
HP:0012337	HP:0040146	D-2-hydroxyglutaric acidemia	4	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0012337	HP:0011505	Cystoid macular edema	4	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		30
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		148
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		48
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		3
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0012337	HP:0003162	Fasting hypoglycemia	4	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional		9
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IGF2BP2 CL E G H	10644	28867	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0100539	Periorbital edema	4	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect	HP:0040283 - Occasional		3
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0012337	HP:0100651	Type I diabetes mellitus	4	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0012337	HP:0100651	Type I diabetes mellitus	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IL6 CL E G H	3569	6018	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		52
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		4
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		120
HP:0012337	HP:0100539	Periorbital edema	4	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		135
HP:0012337	HP:0100651	Type I diabetes mellitus	4	INS CL E G H	3630	6081	OMIM:125852	Diabetes mellitus, insulin-dependent, 2	.		62
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0100651	Type I diabetes mellitus	4	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4			62
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		62
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10			62
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent		62
HP:0012337	HP:0003162	Fasting hypoglycemia	4	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0012337	HP:0002173	Hypoglycemic seizures	4	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.		229
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040281 - Very frequent		229
HP:0012337	HP:0005978	Type II diabetes mellitus	4	INSR CL E G H	3643	6091	ORPHA:2297	Insulin-resistance syndrome type A	HP:0040281 - Very frequent		229
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0012337	HP:0003162	Fasting hypoglycemia	4	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent		229
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent		229
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012337	HP:0003162	Fasting hypoglycemia	4	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.		229
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0012337	HP:0003162	Fasting hypoglycemia	4	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent		229
HP:0012337	HP:0005976	Hyperkalemic metabolic acidosis	4	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IRS1 CL E G H	3667	6125	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		5
HP:0012337	HP:0005978	Type II diabetes mellitus	4	IRS2 CL E G H	8660	6126	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional		3
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		4
HP:0012337	HP:0001947	Renal tubular acidosis	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0012337	HP:0100539	Periorbital edema	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent		73
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.		121
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent		127
HP:0012337	HP:0002173	Hypoglycemic seizures	4	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0012337	HP:0100651	Type I diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040284 - Very rare		127
HP:0012337	HP:0003162	Fasting hypoglycemia	4	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent		127
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0012337	HP:0009800	Maternal diabetes	4	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0012337	HP:0005978	Type II diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		127
HP:0012337	HP:0100651	Type I diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0009800	Maternal diabetes	4	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.		127
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13	.		127
HP:0012337	HP:0009800	Maternal diabetes	4	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13	.		127
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent		127
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare		127
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0012337	HP:0009800	Maternal diabetes	4	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent		10
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0012337	HP:0100539	Periorbital edema	4	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0012337	HP:0100539	Periorbital edema	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome			11
HP:0012337	HP:0100651	Type I diabetes mellitus	4	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040282 - Frequent		11
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0012337	HP:0005978	Type II diabetes mellitus	4	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0012337	HP:0011505	Cystoid macular edema	4	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0012337	HP:0010310	Chylothorax	4	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0012337	HP:0100539	Periorbital edema	4	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0012337	HP:0005978	Type II diabetes mellitus	4	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		3
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	KLF11 CL E G H	8462	11811	OMIM:610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7			78
HP:0012337	HP:0005978	Type II diabetes mellitus	4	KLF11 CL E G H	8462	11811	OMIM:610508	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7			78
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent		78
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.		118
HP:0012337	HP:0005978	Type II diabetes mellitus	4	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		42
HP:0012337	HP:0100539	Periorbital edema	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0012337	HP:0100539	Periorbital edema	4	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0012337	HP:0001947	Renal tubular acidosis	4	KYNU CL E G H	8942	6469	ORPHA:79155	Hydroxykynureninuria	HP:0040282 - Frequent		5
HP:0012337	HP:0040147	L-2-hydroxyglutaric acidemia	4	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.		34
HP:0012337	HP:0032323	Periodic fever	4	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR			1
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent		47
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent		46
HP:0012337	HP:0005978	Type II diabetes mellitus	4	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional		88
HP:0012337	HP:0100539	Periorbital edema	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	LIPC CL E G H	3990	6619	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		35
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent		7
HP:0012337	HP:0005978	Type II diabetes mellitus	4	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0012337	HP:0005978	Type II diabetes mellitus	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0012337	HP:0005978	Type II diabetes mellitus	4	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0012337	HP:0004902	Congenital lactic acidosis	4	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		8
HP:0012337	HP:0005978	Type II diabetes mellitus	4	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		62
HP:0012337	HP:0100651	Type I diabetes mellitus	4	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0012337	HP:0005978	Type II diabetes mellitus	4	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0012337	HP:0100539	Periorbital edema	4	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0012337	HP:0100539	Periorbital edema	4	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		59
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		53
HP:0012337	HP:0010310	Chylothorax	4	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MAPK8IP1 CL E G H	9479	6882	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0002173	Hypoglycemic seizures	4	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		94
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		94
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.		94
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MC4R CL E G H	4160	6932	ORPHA:71529	Obesity due to melanocortin 4 receptor deficiency	HP:0040283 - Occasional		54
HP:0012337	HP:0004911	Episodic metabolic acidosis	4	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0012337	HP:0100539	Periorbital edema	4	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012337	HP:0032324	Non-periodic recurrent fever	4	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent		281
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		462
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		462
HP:0012337	HP:0012051	Reactive hypoglycemia	4	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		462
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		462
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		75
HP:0012337	HP:0100539	Periorbital edema	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0011505	Cystoid macular edema	4	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	HP:0040283 - Occasional		26
HP:0012337	HP:0100651	Type I diabetes mellitus	4	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0100539	Periorbital edema	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0012337	HP:0100651	Type I diabetes mellitus	4	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0012337	HP:0100651	Type I diabetes mellitus	4	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0012337	HP:0004911	Episodic metabolic acidosis	4	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0012337	HP:0005979	Metabolic ketoacidosis	4	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7	.		1
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0012337	HP:0002173	Hypoglycemic seizures	4	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		26
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		26
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2	.		26
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0012337	HP:0100651	Type I diabetes mellitus	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0012337	HP:0009800	Maternal diabetes	4	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		183
HP:0012337	HP:0009800	Maternal diabetes	4	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		183
HP:0012337	HP:0005978	Type II diabetes mellitus	4	MTNR1B CL E G H	4544	7464	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		4
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040284 - Very rare		68
HP:0012337	HP:0100539	Periorbital edema	4	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0012337	HP:0100539	Periorbital edema	4	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		3
HP:0012337	HP:0009800	Maternal diabetes	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0012337	HP:0001947	Renal tubular acidosis	4	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0012337	HP:0004897	Stress/infection-induced lactic acidosis	4	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0012337	HP:0100539	Periorbital edema	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0012337	HP:0005978	Type II diabetes mellitus	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0100651	Type I diabetes mellitus	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001947	Renal tubular acidosis	4	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0012337	HP:0001947	Renal tubular acidosis	4	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		39
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012337	HP:0001947	Renal tubular acidosis	4	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0012337	HP:0001947	Renal tubular acidosis	4	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0012337	HP:0004900	Severe lactic acidosis	4	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0012337	HP:0005978	Type II diabetes mellitus	4	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		5
HP:0012337	HP:0005978	Type II diabetes mellitus	4	NEUROD1 CL E G H	4760	7762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		32
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	NEUROD1 CL E G H	4760	7762	OMIM:606394	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6			32
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent		32
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.		5
HP:0012337	HP:0100651	Type I diabetes mellitus	4	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040282 - Frequent		5
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040281 - Very frequent		5
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent		11
HP:0012337	HP:0004911	Episodic metabolic acidosis	4	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0012337	HP:0009800	Maternal diabetes	4	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		90
HP:0012337	HP:0032323	Periodic fever	4	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.		217
HP:0012337	HP:0002173	Hypoglycemic seizures	4	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		13
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		13
HP:0012337	HP:0011505	Cystoid macular edema	4	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome	.		187
HP:0012337	HP:0009800	Maternal diabetes	4	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0012337	HP:0001947	Renal tubular acidosis	4	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.		138
HP:0012337	HP:0005978	Type II diabetes mellitus	4	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0012337	HP:0100539	Periorbital edema	4	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		241
HP:0012337	HP:0100539	Periorbital edema	4	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		69
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0012337	HP:0005978	Type II diabetes mellitus	4	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		58
HP:0012337	HP:0005978	Type II diabetes mellitus	4	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		30
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		544
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0100539	Periorbital edema	4	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		5
HP:0012337	HP:0100539	Periorbital edema	4	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0100539	Periorbital edema	4	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012337	HP:0100539	Periorbital edema	4	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0100539	Periorbital edema	4	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012337	HP:0100539	Periorbital edema	4	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent
HP:0012337	HP:0100539	Periorbital edema	4	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		5
HP:0012337	HP:0001947	Renal tubular acidosis	4	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0012337	HP:0001947	Renal tubular acidosis	4	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0012337	HP:0005978	Type II diabetes mellitus	4	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		201
HP:0012337	HP:0004902	Congenital lactic acidosis	4	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency	.
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0012337	HP:0009800	Maternal diabetes	4	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0012337	HP:0005974	Episodic ketoacidosis	4	OXCT1 CL E G H	5019	8527	OMIM:245050	Succinyl CoA:3-oxoacid CoA transferase deficiency			52
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0012337	HP:0100539	Periorbital edema	4	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		39
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PAX4 CL E G H	5078	8618	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		55
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	PAX4 CL E G H	5078	8618	OMIM:612225	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9			55
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent		55
HP:0012337	HP:0001947	Renal tubular acidosis	4	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040284 - Very rare		24
HP:0012337	HP:0003162	Fasting hypoglycemia	4	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0012337	HP:0002173	Hypoglycemic seizures	4	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional		65
HP:0012337	HP:0012051	Reactive hypoglycemia	4	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.		65
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		116
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		126
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		18
HP:0012337	HP:0011505	Cystoid macular edema	4	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.		18
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0012337	HP:0004900	Severe lactic acidosis	4	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0012337	HP:0004902	Congenital lactic acidosis	4	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		88
HP:0012337	HP:0004925	Chronic lactic acidosis	4	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0012337	HP:0001947	Renal tubular acidosis	4	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0012337	HP:0004900	Severe lactic acidosis	4	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PDX1 CL E G H	3651	6107	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	PDX1 CL E G H	3651	6107	OMIM:606392	Maturity-onset diabetes of the young, type 4	.		30
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PDX1 CL E G H	3651	6107	OMIM:606392	Maturity-onset diabetes of the young, type 4	.	HP:0011462 - Young adult onset	30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent		30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.		30
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040283 - Occasional		75
HP:0012337	HP:0100539	Periorbital edema	4	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0012337	HP:0100539	Periorbital edema	4	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0012337	HP:0001947	Renal tubular acidosis	4	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0012337	HP:0003162	Fasting hypoglycemia	4	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		54
HP:0012337	HP:0001947	Renal tubular acidosis	4	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0003162	Fasting hypoglycemia	4	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0012337	HP:0001947	Renal tubular acidosis	4	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0012337	HP:0003162	Fasting hypoglycemia	4	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		48
HP:0012337	HP:0003162	Fasting hypoglycemia	4	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0012337	HP:0100651	Type I diabetes mellitus	4	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		11
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0012337	HP:0100539	Periorbital edema	4	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0012337	HP:0010310	Chylothorax	4	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0012337	HP:0001947	Renal tubular acidosis	4	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0012337	HP:0100539	Periorbital edema	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.		43
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	HP:0040283 - Occasional		51
HP:0012337	HP:0012098	Edema of the dorsum of feet	4	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0012337	HP:0009800	Maternal diabetes	4	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040283 - Occasional		5
HP:0012337	HP:0100539	Periorbital edema	4	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		118
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0012337	HP:0000877	Insulin-resistant diabetes mellitus at puberty	4	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate		19
HP:0012337	HP:0012050	Anasarca	4	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0012337	HP:0012050	Anasarca	4	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare		150
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional		103
HP:0012337	HP:0002173	Hypoglycemic seizures	4	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0012337	HP:0005978	Type II diabetes mellitus	4	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare		138
HP:0012337	HP:0001947	Renal tubular acidosis	4	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012337	HP:0002173	Hypoglycemic seizures	4	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional		27
HP:0012337	HP:0002173	Hypoglycemic seizures	4	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0012337	HP:0005978	Type II diabetes mellitus	4	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		180
HP:0012337	HP:0011505	Cystoid macular edema	4	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0012337	HP:0100539	Periorbital edema	4	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.		2
HP:0012337	HP:0100539	Periorbital edema	4	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PPARG CL E G H	5468	9236	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		42
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0012337	HP:0009800	Maternal diabetes	4	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent		42
HP:0012337	HP:0009800	Maternal diabetes	4	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PPP1R3A CL E G H	5506	9291	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		12
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		39
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.		235
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0012337	HP:0009800	Maternal diabetes	4	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		110
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.		54
HP:0012337	HP:0002173	Hypoglycemic seizures	4	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.		54
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		28
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		70
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		51
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		94
HP:0012337	HP:0011505	Cystoid macular edema	4	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	HP:0040283 - Occasional		94
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		159
HP:0012337	HP:0011505	Cystoid macular edema	4	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		159
HP:0012337	HP:0100539	Periorbital edema	4	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0012337	HP:0100539	Periorbital edema	4	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0012337	HP:0100539	Periorbital edema	4	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0012337	HP:0100539	Periorbital edema	4	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form			54
HP:0012337	HP:0100651	Type I diabetes mellitus	4	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040283 - Occasional		96
HP:0012337	HP:0009800	Maternal diabetes	4	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent		22
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PTPN1 CL E G H	5770	9642	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0010310	Chylothorax	4	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0012337	HP:0100539	Periorbital edema	4	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent		3
HP:0012337	HP:0100539	Periorbital edema	4	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005978	Type II diabetes mellitus	4	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0004913	Intermittent lactic acidemia	4	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional		71
HP:0012337	HP:0011997	Postprandial hyperlactemia	4	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040284 - Very rare		71
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		88
HP:0012337	HP:0010310	Chylothorax	4	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		88
HP:0012337	HP:0012098	Edema of the dorsum of feet	4	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		108
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		45
HP:0012337	HP:0011505	Cystoid macular edema	4	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		32
HP:0012337	HP:0005978	Type II diabetes mellitus	4	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		5
HP:0012337	HP:0011505	Cystoid macular edema	4	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	HP:0040283 - Occasional		5
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		572
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RETN CL E G H	56729	20389	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		1
HP:0012337	HP:0100539	Periorbital edema	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		28
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		107
HP:0012337	HP:0011505	Cystoid macular edema	4	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		107
HP:0012337	HP:0100539	Periorbital edema	4	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0012337	HP:0100539	Periorbital edema	4	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		47
HP:0012337	HP:0011505	Cystoid macular edema	4	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional		47
HP:0012337	HP:0001947	Renal tubular acidosis	4	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0012337	HP:0012098	Edema of the dorsum of feet	4	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		38
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		111
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		284
HP:0012337	HP:0011505	Cystoid macular edema	4	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		45
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		14
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		129
HP:0012337	HP:0005978	Type II diabetes mellitus	4	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		200
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0012337	HP:0004900	Severe lactic acidosis	4	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0012337	HP:0001947	Renal tubular acidosis	4	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0012337	HP:0005967	Mixed respiratory and metabolic acidosis	4	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.		1200
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		32
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent		263
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0012337	HP:0001947	Renal tubular acidosis	4	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0012337	HP:0004897	Stress/infection-induced lactic acidosis	4	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0012337	HP:0003162	Fasting hypoglycemia	4	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		48
HP:0012337	HP:0100651	Type I diabetes mellitus	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0012337	HP:0100539	Periorbital edema	4	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare		60
HP:0012337	HP:0100539	Periorbital edema	4	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3			53
HP:0012337	HP:0100539	Periorbital edema	4	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0009800	Maternal diabetes	4	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0012337	HP:0005974	Episodic ketoacidosis	4	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent		66
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0012337	HP:0009800	Maternal diabetes	4	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0012337	HP:0001960	Hypokalemic metabolic alkalosis	4	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0012337	HP:0001947	Renal tubular acidosis	4	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0012337	HP:0100651	Type I diabetes mellitus	4	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0012337	HP:0009800	Maternal diabetes	4	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0012337	HP:0002173	Hypoglycemic seizures	4	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.		74
HP:0012337	HP:0003162	Fasting hypoglycemia	4	SLC1A1 CL E G H	6505	10939	OMIM:222730	Dicarboxylicamino aciduria	.		71
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0012337	HP:0003162	Fasting hypoglycemia	4	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0012337	HP:0004900	Severe lactic acidosis	4	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0012337	HP:0004900	Severe lactic acidosis	4	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0012337	HP:0100539	Periorbital edema	4	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0100651	Type I diabetes mellitus	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SLC2A2 CL E G H	6514	11006	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		71
HP:0012337	HP:0001947	Renal tubular acidosis	4	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent		71
HP:0012337	HP:0003162	Fasting hypoglycemia	4	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent		71
HP:0012337	HP:0011998	Postprandial hyperglycemia	4	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent		71
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SLC30A8 CL E G H	169026	20303	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		3
HP:0012337	HP:0001947	Renal tubular acidosis	4	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		47
HP:0012337	HP:0100539	Periorbital edema	4	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0012337	HP:0100651	Type I diabetes mellitus	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0012337	HP:0002173	Hypoglycemic seizures	4	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0012337	HP:0001947	Renal tubular acidosis	4	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.		109
HP:0012337	HP:0001947	Renal tubular acidosis	4	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.		109
HP:0012337	HP:0001947	Renal tubular acidosis	4	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation			89
HP:0012337	HP:0004924	Abnormal oral glucose tolerance	4	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.		74
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		4
HP:0012337	HP:0100539	Periorbital edema	4	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		83
HP:0012337	HP:0100539	Periorbital edema	4	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0012337	HP:0100539	Periorbital edema	4	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012337	HP:0100539	Periorbital edema	4	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0012337	HP:0100539	Periorbital edema	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0012337	HP:0003550	Predominantly lower limb lymphedema	4	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040281 - Very frequent		7
HP:0012337	HP:0009800	Maternal diabetes	4	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0012337	HP:0009800	Maternal diabetes	4	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		48
HP:0012337	HP:0100651	Type I diabetes mellitus	4	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0012337	HP:0005978	Type II diabetes mellitus	4	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012337	HP:0009800	Maternal diabetes	4	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012337	HP:0004906	Hypernatremic dehydration	4	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.		100
HP:0012337	HP:0100539	Periorbital edema	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0002173	Hypoglycemic seizures	4	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		45
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		45
HP:0012337	HP:0100651	Type I diabetes mellitus	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0012337	HP:0100651	Type I diabetes mellitus	4	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		110
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0012337	HP:0100651	Type I diabetes mellitus	4	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040284 - Very rare		2
HP:0012337	HP:0100651	Type I diabetes mellitus	4	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0012337	HP:0005978	Type II diabetes mellitus	4	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0012337	HP:0100539	Periorbital edema	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0009800	Maternal diabetes	4	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0012337	HP:0100539	Periorbital edema	4	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0012337	HP:0001947	Renal tubular acidosis	4	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0012337	HP:0001947	Renal tubular acidosis	4	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0012337	HP:0004913	Intermittent lactic acidemia	4	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0012337	HP:0002173	Hypoglycemic seizures	4	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0012337	HP:0001947	Renal tubular acidosis	4	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0012337	HP:0100539	Periorbital edema	4	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0100539	Periorbital edema	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0003162	Fasting hypoglycemia	4	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.		57
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040280 - Obligate		57
HP:0012337	HP:0002173	Hypoglycemic seizures	4	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040282 - Frequent		57
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TCF7L2 CL E G H	6934	11641	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		4
HP:0012337	HP:0009800	Maternal diabetes	4	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0012337	HP:0100539	Periorbital edema	4	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0012337	HP:0009800	Maternal diabetes	4	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0012337	HP:0012098	Edema of the dorsum of feet	4	TGM1 CL E G H	7051	11777	ORPHA:281127	Acral self-healing collodion baby	HP:0040281 - Very frequent		98
HP:0012337	HP:0005978	Type II diabetes mellitus	4	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional		4
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0012337	HP:0100539	Periorbital edema	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0100539	Periorbital edema	4	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0012337	HP:0100539	Periorbital edema	4	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		61
HP:0012337	HP:0004900	Severe lactic acidosis	4	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent		101
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0012337	HP:0004900	Severe lactic acidosis	4	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040281 - Very frequent
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040281 - Very frequent
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001947	Renal tubular acidosis	4	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0001947	Renal tubular acidosis	4	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0004900	Severe lactic acidosis	4	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040282 - Frequent
HP:0012337	HP:0032323	Periodic fever	4	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0012337	HP:0100539	Periorbital edema	4	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		107
HP:0012337	HP:0010310	Chylothorax	4	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		1090
HP:0012337	HP:0010310	Chylothorax	4	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent		2738
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0012337	HP:0100651	Type I diabetes mellitus	4	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		26
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		41
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		1
HP:0012337	HP:0005978	Type II diabetes mellitus	4	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		66
HP:0012337	HP:0002173	Hypoglycemic seizures	4	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent		85
HP:0012337	HP:0012734	Ketotic hypoglycemia	4	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent		85
HP:0012337	HP:0012050	Anasarca	4	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0012337	HP:0001985	Hypoketotic hypoglycemia	4	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent		15
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent		15
HP:0012337	HP:0002173	Hypoglycemic seizures	4	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0012337	HP:0012051	Reactive hypoglycemia	4	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent		15
HP:0012337	HP:0001947	Renal tubular acidosis	4	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012337	HP:0004902	Congenital lactic acidosis	4	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0012337	HP:0004897	Stress/infection-induced lactic acidosis	4	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent		31
HP:0012337	HP:0001790	Nonimmune hydrops fetalis	4	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent		41
HP:0012337	HP:0005978	Type II diabetes mellitus	4	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		777
HP:0012337	HP:0009800	Maternal diabetes	4	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent		111
HP:0012337	HP:0009800	Maternal diabetes	4	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		2
HP:0012337	HP:0009800	Maternal diabetes	4	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		2
HP:0012337	HP:0001947	Renal tubular acidosis	4	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0012337	HP:0001947	Renal tubular acidosis	4	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0012337	HP:0100539	Periorbital edema	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0012337	HP:0005978	Type II diabetes mellitus	4	WFS1 CL E G H	7466	12762	OMIM:125853	Diabetes mellitus, noninsulin-dependent	.		389
HP:0012337	HP:0005978	Type II diabetes mellitus	4	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.		199
HP:0012337	HP:0004918	Hyperchloremic metabolic acidosis	4	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.		71
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0012337	HP:0005978	Type II diabetes mellitus	4	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent		310
HP:0012337	HP:0100539	Periorbital edema	4	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040282 - Frequent		177
HP:0012337	HP:0100539	Periorbital edema	4	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0005978	Type II diabetes mellitus	4	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional		9
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		9
HP:0012337	HP:0001998	Neonatal hypoglycemia	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0012337	HP:0001958	Nonketotic hypoglycemia	4	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		7
HP:0012337	HP:0001988	Recurrent hypoglycemia	4	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		7
HP:0012337	HP:0012051	Reactive hypoglycemia	4	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		7
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	4	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0001953	Diabetic ketoacidosis	4	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040284 - Very rare		30
HP:0012337	HP:0004904	Maturity-onset diabetes of the young	4	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0012337	HP:0009800	Maternal diabetes	4	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0012337	HP:0009800	Maternal diabetes	4	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0012337	HP:0000831	Insulin-resistant diabetes mellitus	4	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		14
HP:0012337	HP:0005978	Type II diabetes mellitus	4	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		27
HP:0012337	HP:0100539	Periorbital edema	4	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0012337	HP:0012098	Edema of the dorsum of feet	4	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0012337	HP:0100540	Palpebral edema	5	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional		72
HP:0012337	HP:0100540	Palpebral edema	5	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional		123
HP:0012337	HP:0100540	Palpebral edema	5	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0012337	HP:0000877	Insulin-resistant diabetes mellitus at puberty	5	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0012337	HP:0100540	Palpebral edema	5	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040282 - Frequent		95
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0012337	HP:0100540	Palpebral edema	5	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0012337	HP:0008341	Distal renal tubular acidosis	5	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0012337	HP:0000877	Insulin-resistant diabetes mellitus at puberty	5	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0012337	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	5	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012337	HP:0008341	Distal renal tubular acidosis	5	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0012337	HP:0008341	Distal renal tubular acidosis	5	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0012337	HP:0100540	Palpebral edema	5	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	HP:0040283 - Occasional		34
HP:0012337	HP:0100540	Palpebral edema	5	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare		34
HP:0012337	HP:0100540	Palpebral edema	5	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0012337	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	5	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0012337	HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	5	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0012337	HP:0008341	Distal renal tubular acidosis	5	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent		2
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0012337	HP:0100540	Palpebral edema	5	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0012337	HP:0100540	Palpebral edema	5	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0012337	HP:0100540	Palpebral edema	5	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent		178
HP:0012337	HP:0008205	Insulin-dependent but ketosis-resistant diabetes	5	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0012337	HP:0100540	Palpebral edema	5	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		79
HP:0012337	HP:0100540	Palpebral edema	5	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0004910	Bicarbonate-wasting renal tubular acidosis	5	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040281 - Very frequent		65
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0012337	HP:0100540	Palpebral edema	5	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent		177
HP:0012337	HP:0100540	Palpebral edema	5	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		1
HP:0012337	HP:0100540	Palpebral edema	5	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012337	HP:0100540	Palpebral edema	5	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0012337	HP:0008341	Distal renal tubular acidosis	5	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent		37
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		86
HP:0012337	HP:0004910	Bicarbonate-wasting renal tubular acidosis	5	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		86
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		237
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0012337	HP:0100540	Palpebral edema	5	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0012337	HP:0100540	Palpebral edema	5	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040282 - Frequent		5
HP:0012337	HP:0100540	Palpebral edema	5	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0012337	HP:0008341	Distal renal tubular acidosis	5	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040282 - Frequent		90
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent		138
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		62
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0012337	HP:0004914	Recurrent infantile hypoglycemia	5	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0012337	HP:0100540	Palpebral edema	5	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.		127
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0012337	HP:0100540	Palpebral edema	5	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040282 - Frequent		11
HP:0012337	HP:0100540	Palpebral edema	5	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0012337	HP:0100540	Palpebral edema	5	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		276
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0012337	HP:0100540	Palpebral edema	5	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0012337	HP:0100540	Palpebral edema	5	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional		13
HP:0012337	HP:0033087	Quotidian fever	5	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR			1
HP:0012337	HP:0100540	Palpebral edema	5	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		39
HP:0012337	HP:0004910	Bicarbonate-wasting renal tubular acidosis	5	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		39
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.		30
HP:0012337	HP:0100540	Palpebral edema	5	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0012337	HP:0100540	Palpebral edema	5	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040284 - Very rare		46
HP:0012337	HP:0100540	Palpebral edema	5	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0012337	HP:0000877	Insulin-resistant diabetes mellitus at puberty	5	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate		19
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0012337	HP:0100540	Palpebral edema	5	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0012337	HP:0100540	Palpebral edema	5	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional		54
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent		22
HP:0012337	HP:0100540	Palpebral edema	5	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.		43
HP:0012337	HP:0100540	Palpebral edema	5	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0012337	HP:0100540	Palpebral edema	5	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent		53
HP:0012337	HP:0100540	Palpebral edema	5	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0012337	HP:0100540	Palpebral edema	5	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		47
HP:0012337	HP:0004910	Bicarbonate-wasting renal tubular acidosis	5	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040281 - Very frequent		47
HP:0012337	HP:0100540	Palpebral edema	5	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0012337	HP:0008341	Distal renal tubular acidosis	5	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0012337	HP:0008341	Distal renal tubular acidosis	5	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.		89
HP:0012337	HP:0004910	Bicarbonate-wasting renal tubular acidosis	5	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.		89
HP:0012337	HP:0100540	Palpebral edema	5	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		174
HP:0012337	HP:0100540	Palpebral edema	5	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent		14
HP:0012337	HP:0100540	Palpebral edema	5	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0012337	HP:0100540	Palpebral edema	5	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040282 - Frequent		7
HP:0012337	HP:0100540	Palpebral edema	5	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.		7
HP:0012337	HP:0008205	Insulin-dependent but ketosis-resistant diabetes	5	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.		34
HP:0012337	HP:0008205	Insulin-dependent but ketosis-resistant diabetes	5	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0012337	HP:0100540	Palpebral edema	5	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		110
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0012337	HP:0100540	Palpebral edema	5	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012337	HP:0001994	Renal Fanconi syndrome	5	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0012337	HP:0002049	Proximal renal tubular acidosis	5	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.		7
HP:0012337	HP:0100540	Palpebral edema	5	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema			4
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1			30
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.		30
HP:0012337	HP:0000857	Neonatal insulin-dependent diabetes mellitus	5	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	5	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0012337	HP:0100540	Palpebral edema	5	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		1
HP:0012337	HP:0004916	Generalized distal tubular acidosis	6	CL E G H
HP:0012337	HP:0012568	Lower eyelid edema	6	CL E G H
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2			245
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0012337	HP:0010749	Blepharochalasis	6	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0012337	HP:0010749	Blepharochalasis	6	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0012337	HP:0010749	Blepharochalasis	6	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0012337	HP:0010749	Blepharochalasis	6	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0012337	HP:0010749	Blepharochalasis	6	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0012337	HP:0012724	Upper eyelid edema	6	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0012337	HP:0010749	Blepharochalasis	6	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional		53
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0012337	HP:0012724	Upper eyelid edema	6	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.		127
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0012337	HP:0012724	Upper eyelid edema	6	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0012337	HP:0012724	Upper eyelid edema	6	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent		43
HP:0012337	HP:0012724	Upper eyelid edema	6	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.		30
HP:0012337	HP:0008255	Transient neonatal diabetes mellitus	6	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent		30

Genes (1612) :AARS2 ABCA12 ABCA3 ABCA4 ABCB4 ABCC2 ABCC6 ABCC8 ABCC9 ABCD4 ABL1 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACAT2 ACP5 ACSF3 ACTA1 ACTB ACTC1 ACTG1 ACTN4 ADA ADA2 ADAMTS13 ADAMTS2 ADAMTS3 ADAR ADARB1 ADCY3 ADRB2 ADRB3 AEBP1 AFF4 AGBL1 AGBL5 AGGF1 AGK AGL AGPAT2 AGRP AGXT AHCY AHI1 AHR AIFM1 AIP AIRE AK2 AKT1 AKT2 ALAS2 ALB ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG11 ALG12 ALG14 ALG3 ALG8 ALG9 ALMS1 ALOX12B ALOXE3 ALPK1 ALPK3 ALPL AMACR ANAPC1 ANGPT1 ANGPT2 ANK1 ANKFY1 ANKH ANKRD55 ANLN ANTXR1 ANTXR2 APC2 APOA1 APOA5 APOE APOL1 APPL1 APRT AQP2 AR ARHGAP24 ARHGDIA ARHGEF18 ARL2BP ARL3 ARL6 ARMC5 ARNT2 ASAH1 ASL ASPRV1 ASS1 ASXL1 ASXL2 ATAD3A ATM ATN1 ATP13A2 ATP1A2 ATP1A3 ATP2A1 ATP5F1D ATP5F1E ATP6 ATP6V0A4 ATP6V1B1 ATP7A ATP7B ATPAF2 ATRX ATXN3 AUH AVP AVPR2 B2M B4GALT1 BACH2 BAP1 BAZ1B BBS1 BBS2 BBS9 BCAP31 BCKDHA BCKDHB BCL10 BCL2 BCL6 BCL7B BCOR BCR BCS1L BEST1 BIN1 BIRC3 BLK BLM BLNK BLTP1 BMP2 BMP6 BMPER BMPR1A BOLA3 BRAF BRAT1 BRCA1 BRCA2 BRD4 BSCL2 BSND BTD BTK BTNL2 BUB1 BUB1B BUB3 BUD23 C1QBP C2ORF69 C3 C4A CA12 CA2 CA4 CA5A CACNA1A CACNA1C CACNA1D CACNA1S CAD CALCRL CALR CAMKMT CAMTA1 CARS1 CARS2 CARTPT CASK CASP10 CASR CAT CAV1 CAVIN1 CBL CCBE1 CCDC28B CCDC88A CCN6 CCND1 CCR1 CD244 CD247 CD27 CD28 CD2AP CD320 CD3D CD3E CD46 CD55 CD70 CD79A CD79B CDAN1 CDC42 CDH11 CDH23 CDHR1 CDK5 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDON CEACAM3 CEACAM6 CEBPE CEL CELA2A CELSR1 CEP19 CEP57 CERKL CFAP418 CFH CFHR1 CFHR3 CFI CFTR CHCHD10 CHD7 CHEK2 CHRNA1 CHRND CHRNG CIC CIDEC CIITA CISD2 CITED2 CLCA4 CLCF1 CLCN2 CLCN6 CLCN7 CLCNKA CLCNKB CLDN10 CLDN16 CLEC7A CLIP2 CLMP CLPB CLRN1 CNBP CNGA1 CNGB1 CNOT1 COA6 COA8 COG6 COG7 COG8 COL11A1 COL1A1 COL1A2 COL2A1 COL4A3 COL5A1 COL5A2 COL8A2 COQ2 COQ4 COQ8A COQ8B COQ9 CORIN COX1 COX10 COX14 COX15 COX16 COX2 COX20 COX3 COX4I1 COX5A COX6A2 COX6B1 COX8A CP CPA1 CPE CPN1 CPS1 CPSF3 CPT1A CPT2 CR2 CRB1 CRB2 CRLF1 CRX CSGALNACT1 CTC1 CTDP1 CTLA4 CTNNB1 CTNS CTRC CTSA CUL3 CYB561 CYBA CYBB CYBC1 CYC1 CYP11A1 CYP11B2 CYP17A1 CYP19A1 CYP21A2 CYP24A1 CYP27A1 CYP4F22 CYP4V2 CYTB DAAM2 DARS2 DBH DBT DCAF17 DCHS1 DCLRE1C DCTN4 DDB2 DDC DDR2 DEF6 DGUOK DHCR7 DHDDS DHPS DHX38 DIS3L2 DISP1 DKC1 DLAT DLD DLK1 DLL1 DMXL2 DNAJC19 DNAJC21 DNAJC3 DNAJC30 DNASE1L3 DNASE2 DNM1L DNM2 DNMT1 DNMT3B DOCK2 DOHH DOK7 DOLK DPAGT1 DPYS DSP DST DTYMK DUOX2 DUOXA2 DUT DUX4 DYNC2H1 DYNC2I1 DYNC2I2 DYSF EARS2 EBP ECHS1 EDA EDA2R EDAR EDARADD EDNRA EFL1 EGFR EHHADH EIF2AK3 EIF2AK4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4H ELAC2 ELANE ELF4 ELMO2 ELN ELP1 EMP2 ENG ENPP1 EPB41 EPB42 EPCAM EPG5 EPHB4 ERAP1 ERBB3 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESR1 ETFA ETFB ETFDH ETHE1 EYS F12 F5 F8 FAH FAM161A FARS2 FARSB FAS FASLG FASTKD2 FAT4 FBN1 FBP1 FBXL4 FCGR2A FCGR3B FDX2 FECH FGA FGB FGF20 FGF8 FGFR1 FGFR3 FGG FH FIG4 FIP1L1 FKBP6 FLNB FLNC FLT1 FLT4 FMR1 FN1 FOCAD FOS FOXA2 FOXC2 FOXF1 FOXG1 FOXH1 FOXP1 FOXP3 FOXRED1 FRG1 FRMD4A FSCN2 FSHR FUCA1 FUT8 FUZ FXN FZD4 G6PC1 G6PD GAA GABRA2 GABRA3 GALC GALK1 GALT GAPVD1 GAS1 GATA1 GATA2 GATA3 GATA4 GATA6 GATB GATC GATM GBA1 GBE1 GCDH GCGR GCH1 GCK GCLC GFER GFI1 GFM1 GFM2 GFRA1 GH1 GHR GHRL GHSR GJA1 GJB3 GJB4 GJC2 GK GLA GLB1 GLE1 GLI2 GLI3 GLIS3 GLRX5 GLUD1 GLYCTK GNAQ GNAS GNB2 GNPTAB GOT2 GPC3 GPC4 GPC6 GPD2 GPR101 GPR161 GPR35 GRB10 GREB1L GRHL2 GRIP1 GSN GSS GSTM3 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GUCA1B GUSB GYPC GYS2 H19 H19-ICR H4C5 HADH HADHA HADHB HAMP HAVCR2 HBA1 HBA2 HBB HCFC1 HDAC8 HELLPAR HEPHL1 HERC1 HERC2 HESX1 HFE HGD HGSNAT HIBCH HJV HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HLCS HMBS HMGA1 HMGA2 HMGCL HMGCS2 HMOX1 HNF1A HNF1B HNF4A HNRNPK HPD HPDL HPGD HRAS HS3ST6 HS6ST2 HSD11B1 HSD11B2 HSD17B10 HSD3B2 HSPG2 HTR1A HTRA2 HYMAI HYOU1 IARS1 IARS2 IBA57 IDH2 IDH3A IDH3B IER3IP1 IFIH1 IFNG IFNGR1 IFT140 IFT172 IFT80 IFT88 IGF1 IGF1R IGF2 IGF2BP2 IGFALS IGH IGHG2 IGHM IGKC IGLL1 IGSF3 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL18BP IL1RN IL23R IL2RA IL2RB IL2RG IL36RN IL6 IL6R IL7R IMPDH1 IMPG1 IMPG2 INF2 INPPL1 INS INSR INVS IPW IRAK1 IRF2BP2 IRF4 IRF8 IRS1 IRS2 ISCA1 ISCU ITCH ITGA3 ITGA8 ITK ITPR2 ITPR3 IVD IYD JAG1 JAK2 KARS1 KAT6A KCNE3 KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ18 KCNJ5 KCNN4 KCNQ1 KCNQ1OT1 KCNQ2 KCTD1 KDF1 KDM6A KDSR KIAA0586 KIAA1549 KIF11 KIF1A KIF1B KIF20A KIF7 KIT KIZ KLF1 KLF11 KLHL3 KLHL40 KLHL41 KLHL7 KLRC4 KNG1 KNSTRN KPTN KRAS KRT13 KRT14 KRT18 KRT2 KRT5 KYNU L2HGDH LACC1 LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LARS1 LARS2 LBR LBX1 LCT LDHA LEMD2 LEMD3 LEP LEPR LETM1 LHX1 LHX3 LHX4 LIAS LIFR LIG3 LIG4 LIMK1 LIPA LIPC LIPE LIPN LIPT1 LIPT2 LMBRD1 LMF1 LMNA LMNB1 LMNB2 LMOD3 LONP1 LPIN1 LPIN2 LRAT LRBA LRP5 LRP6 LRPPRC LRRC8A LSM11 LTBP4 LYRM4 LYRM7 LYST LYZ LZTR1 MADD MAFA MAGEL2 MAGI2 MAK MALT1 MAP2K1 MAP2K2 MAPK1 MAPK8IP1 MAPRE2 MARS1 MBTPS2 MC2R MC4R MCCC1 MCCC2 MCEE MCM10 MDFIC MDH2 MECOM MECP2 MED12L MEFV MEG3 MEN1 MERTK METTL27 MFN2 MFRP MGAT2 MIA3 MICOS13 MIF MIPEP MKKS MKRN3 MKRN3-AS1 MLX MLXIPL MLYCD MMAA MMAB MMACHC MMADHC MMP14 MMP2 MMUT MOG MOGS MPC1 MPI MPL MPV17 MRAP MRAS MRM2 MRPL12 MRPL3 MRPL44 MRPS14 MRPS16 MRPS2 MRPS22 MRPS28 MRPS34 MRPS7 MSL3 MST1 MTFMT MTHFR MTMR14 MTNR1B MTO1 MTOR MTRFR MTX2 MVK MYBPC3 MYD88 MYF6 MYH3 MYH6 MYL11 MYLK MYO1E MYO1H MYO5B MYOF MYPN NAA10 NAB2 NABP1 NADK2 NAGA NALCN NARS2 NAXD NAXE NBAS NCF1 NCF2 NCF4 ND1 ND2 ND3 ND4 ND5 ND6 NDN NDP NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECTIN4 NEK1 NEK2 NEK9 NEU1 NEUROD1 NEUROG3 NFKB2 NFKBIA NFKBIL1 NFS1 NFU1 NGF NGLY1 NHP2 NIPAL4 NIPBL NKX2-1 NKX2-5 NKX2-6 NLRC4 NLRP1 NLRP12 NLRP3 NNT NOD2 NODAL NOP10 NOS1AP NOS3 NOTCH2 NOTCH3 NPAP1 NPHS1 NPHS2 NPM1 NR0B1 NR0B2 NR1H4 NR2E3 NR3C1 NR3C2 NRAS NRL NSD1 NSF NSMCE2 NSUN3 NTRK1 NUBPL NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OCA2 OCRL ODC1 OFD1 OGDH OPA1 ORAI1 OSGEP OTC OTULIN OTX2 OVOL2 OXCT1 P4HA2 P4HTM PAK1 PALB2 PALLD PAPPA2 PARN PAX2 PAX4 PAX6 PAX8 PBX1 PC PCARE PCBD1 PCCA PCCB PCK1 PCK2 PCNT PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PDX1 PERCC1 PET100 PET117 PEX1 PEX10 PEX2 PEX5 PEX6 PGM1 PHGDH PHKA1 PHKA2 PHKB PHKG2 PHOX2B PI4KA PIEZO1 PIGA PIGN PIK3CA PIK3CD PIK3CG PIK3R1 PITRM1 PKHD1 PKLR PLA2G6 PLAA PLAG1 PLAGL1 PLCD1 PLCE1 PLCG2 PLCH1 PLD1 PLG PLIN1 PLPBP PLVAP PLXND1 PML PMM2 PMP22 PMPCA PMPCB PNPLA2 PNPLA6 PNPLA8 PNPO PNPT1 POC1A POFUT1 POGLUT1 POGZ POLA1 POLD1 POLG POLG2 POLR3A POLRMT POMC POMGNT1 POMP POU1F1 POU4F1 POU6F2 PPA2 PPARG PPCS PPM1B PPP1R15B PPP1R3A PPP2R5D PRCD PRDX1 PREPL PRF1 PRKACA PRKAG2 PRKAR1A PRKCD PRNP PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRT2 PRSS1 PRSS2 PRTN3 PSAP PSAT1 PSENEN PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSPH PSTPIP1 PTCH1 PTEN PTF1A PTH1R PTPN1 PTPN11 PTPN14 PTPN2 PTPN22 PTPN3 PTPRC PTPRO PTRH2 PTS PUS1 PWAR1 PWRN1 PYGL QDPR QRSL1 RAB27A RABL3 RAC1 RAD21 RAF1 RAG1 RAG2 RANBP2 RARA RARS1 RARS2 RASA1 RASA2 RASGRP1 RB1 RBCK1 RBM8A RBP3 RDH12 RDH5 RECQL4 REEP6 REL RELN REST RET RETN RFC2 RFX6 RGR RHD RHO RIMS2 RIN2 RIPK1 RIT1 RLBP1 RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF125 RNF13 RNF168 RNU4ATAC RNU7-1 ROBO1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RRM2B RTEL1 RTL1 RUNX1 RYR1 SAG SAMD9 SAMHD1 SARS2 SBDS SCAPER SCARB2 SCN10A SCN11A SCN1A SCN4A SCN5A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL1 SDC3 SDHA SDHB SDHD SDR9C7 SECISBP2 SEMA4A SEMA4D SERAC1 SERPINA1 SERPING1 SETD2 SFTPB SFTPC SFXN4 SGPL1 SH2B1 SH2B3 SH2D1A SH3KBP1 SHANK3 SHH SHOX SHPK SHQ1 SIM1 SIN3A SIX3 SLC11A1 SLC12A1 SLC12A3 SLC16A1 SLC17A5 SLC18A2 SLC19A2 SLC19A3 SLC1A1 SLC1A3 SLC22A4 SLC22A5 SLC25A10 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A20 SLC25A26 SLC25A3 SLC25A4 SLC25A42 SLC26A2 SLC26A3 SLC26A9 SLC29A3 SLC2A2 SLC30A8 SLC34A1 SLC34A2 SLC35C1 SLC35D1 SLC37A4 SLC3A1 SLC40A1 SLC41A1 SLC4A1 SLC4A11 SLC4A4 SLC52A1 SLC5A1 SLC5A2 SLC5A5 SLC6A14 SLC7A14 SLC7A7 SLC9A3 SLCO2A1 SMAD4 SMARCAL1 SMC1A SMC3 SMCHD1 SMPD4 SMS SNORD115-1 SNORD116-1 SNRNP200 SNRPN SNX10 SNX14 SOD1 SOS1 SOS2 SOX18 SOX2 SOX3 SPATA7 SPG11 SPI1 SPINK1 SPINK5 SPP1 SPR SPRED2 SPTA1 SPTB SPTBN1 SQOR SRCAP SRP54 SRSF2 STAC3 STAG1 STAG2 STAR STAT1 STAT2 STAT3 STAT4 STAT5B STAT6 STIL STIM1 STING1 STOX1 STUB1 STX11 STX1A STX3 STXBP2 SUCLA2 SUCLG1 SUFU SUGCT SULT2B1 SUMF1 SUOX SURF1 SYK SYNJ1 TACO1 TAFAZZIN TALDO1 TANGO2 TAOK1 TAPT1 TARS2 TBC1D8B TBCK TBK1 TBL1XR1 TBL2 TBX19 TBX20 TBX3 TCF3 TCF4 TCF7L2 TCIRG1 TDGF1 TEK TERC TERT TET2 TFAM TFE3 TFG TG TGFB1 TGFBI TGIF1 TGM1 TH THRB TICAM1 TIE1 TIMM22 TIMM50 TIMMDC1 TINF2 TK2 TKFC TKT TLL1 TLR3 TLR4 TLR7 TLR8 TMEM126B TMEM165 TMEM260 TMEM270 TMEM70 TMPRSS15 TNFAIP3 TNFRSF11B TNFRSF1A TNFRSF1B TNFSF11 TNNI3 TNNT2 TOM1 TOPORS TP53 TPK1 TPO TPRKB TRAF3 TRAF3IP2 TRAF6 TRAPPC2 TRAPPC9 TREX1 TRIM28 TRIM37 TRIP11 TRIP13 TRMT10A TRMT10C TRMT5 TRMU TRNC TRNE TRNF TRNH TRNI TRNK TRNL1 TRNL2 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TRPC6 TSC1 TSC2 TSFM TSHB TSHR TSPAN12 TSPOAP1 TSPYL1 TSR2 TTC26 TTC7A TTC8 TTPA TUB TUBB TUFM TULP1 TWNK TXN2 TXNDC15 TXNRD2 TYMP TYMS UBA1 UBAC2 UBE3A UBR1 UCP2 UCP3 UNC13D UNC45A UNC93B1 UPB1 UQCC2 UQCC3 UQCRB UQCRC2 UQCRFS1 UQCRQ UROD UROS USB1 USH2A USP18 USP48 USP8 VAC14 VANGL1 VANGL2 VARS2 VEGFC VHL VIPAS39 VPS11 VPS33B VPS37D VPS51 VSX1 WARS2 WAS WDR1 WDR11 WDR35 WFS1 WIPF1 WNK1 WNK4 WNT7A WNT9B WRAP53 WRN WT1 XIAP XPA XPC XPNPEP2 XRCC4 XYLT2 YARS1 YARS2 YIPF5 YY1 ZBTB16 ZBTB20 ZEB1 ZFHX2 ZFP57 ZFYVE19 ZFYVE26 ZIC2 ZMPSTE24 ZNF408 ZNF513 ZNF699 ZNFX1 ZNHIT3 ZNRF3

Diseases (1525) :OMIM:614096 ORPHA:457 ORPHA:313 ORPHA:70587 ORPHA:791 ORPHA:69663 ORPHA:234 ORPHA:51608 OMIM:177850 ORPHA:276575 ORPHA:79134 OMIM:125853 OMIM:618857 OMIM:610374 OMIM:256450 OMIM:240800 ORPHA:99885 ORPHA:552 ORPHA:99886 OMIM:239850 OMIM:614857 ORPHA:521 ORPHA:79159 ORPHA:99901 OMIM:611126 OMIM:201450 ORPHA:42 OMIM:201470 ORPHA:26792 OMIM:610006 ORPHA:26793 OMIM:201475 OMIM:203750 ORPHA:134 OMIM:614055 OMIM:607944 ORPHA:289504 OMIM:614265 ORPHA:171430 ORPHA:2995 ORPHA:99103 OMIM:603278 ORPHA:656 ORPHA:39041 OMIM:102700 ORPHA:124 OMIM:615688 OMIM:274150 OMIM:225410 OMIM:618154 ORPHA:2136 ORPHA:51 OMIM:618862 OMIM:617885 OMIM:601665 ORPHA:536532 ORPHA:444077 ORPHA:98974 ORPHA:90308 ORPHA:1369 OMIM:212350 ORPHA:366 OMIM:232400 ORPHA:528 OMIM:608594 OMIM:259900 ORPHA:93598 ORPHA:88618 OMIM:300816 ORPHA:238329 ORPHA:963 OMIM:219090 ORPHA:99725 OMIM:240300 ORPHA:33355 ORPHA:744 ORPHA:79085 ORPHA:293964 OMIM:240900 ORPHA:75563 OMIM:616000 ORPHA:86816 OMIM:614105 ORPHA:3006 ORPHA:57 OMIM:229600 ORPHA:469 OMIM:608540 ORPHA:280071 OMIM:613661 ORPHA:79324 OMIM:607143 OMIM:619036 OMIM:601110 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:608776 ORPHA:64 OMIM:203800 OMIM:606545 OMIM:614979 OMIM:618052 OMIM:241500 ORPHA:79095 ORPHA:221008 OMIM:619361 OMIM:619369 ORPHA:822 ORPHA:1416 ORPHA:85408 ORPHA:2067 ORPHA:2176 ORPHA:821 OMIM:105200 OMIM:144650 OMIM:145750 ORPHA:412 ORPHA:158029 OMIM:616511 OMIM:614723 OMIM:125800 ORPHA:223 ORPHA:481 ORPHA:90797 OMIM:615244 OMIM:617433 OMIM:618161 OMIM:618173 OMIM:209900 OMIM:615954 ORPHA:189427 ORPHA:3157 ORPHA:333 OMIM:228000 OMIM:207900 OMIM:215700 ORPHA:97297 ORPHA:98849 OMIM:617190 OMIM:617183 ORPHA:496790 OMIM:618810 ORPHA:100 OMIM:208900 ORPHA:52416 OMIM:618494 ORPHA:306674 ORPHA:2131 ORPHA:569 OMIM:602481 OMIM:601003 OMIM:618120 OMIM:614053 ORPHA:255210 ORPHA:320360 OMIM:602722 OMIM:267300 ORPHA:565 OMIM:309400 ORPHA:198 OMIM:277900 ORPHA:905 OMIM:604273 ORPHA:96253 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:67046 OMIM:250950 ORPHA:30925 OMIM:304800 ORPHA:79332 OMIM:618394 ORPHA:50251 ORPHA:904 OMIM:615981 OMIM:615986 ORPHA:369939 OMIM:248600 ORPHA:52417 ORPHA:545 ORPHA:520 OMIM:603358 ORPHA:53693 OMIM:124000 ORPHA:169189 OMIM:613375 ORPHA:125 OMIM:210900 ORPHA:33110 OMIM:617822 OMIM:235200 ORPHA:465508 OMIM:608022 ORPHA:329971 OMIM:614299 ORPHA:1340 ORPHA:54595 OMIM:163950 OMIM:614498 ORPHA:70567 ORPHA:1333 ORPHA:654 ORPHA:199 OMIM:269700 ORPHA:363400 OMIM:602522 ORPHA:89938 ORPHA:79241 OMIM:253260 ORPHA:47 ORPHA:797 OMIM:612387 ORPHA:1052 OMIM:617713 OMIM:619423 OMIM:613779 ORPHA:117 OMIM:143860 ORPHA:2785 OMIM:259730 OMIM:615751 OMIM:141500 OMIM:601005 OMIM:615474 ORPHA:369929 ORPHA:681 ORPHA:423 OMIM:601887 ORPHA:79102 OMIM:616457 OMIM:618773 ORPHA:131 OMIM:254450 ORPHA:824 ORPHA:163693 OMIM:614756 ORPHA:314647 OMIM:618891 ORPHA:477774 OMIM:616672 OMIM:300908 ORPHA:3261 ORPHA:676 ORPHA:926 OMIM:612526 OMIM:606721 OMIM:613327 ORPHA:648 OMIM:613563 OMIM:235510 OMIM:617507 OMIM:208230 ORPHA:1159 ORPHA:29073 ORPHA:892 OMIM:180300 ORPHA:169160 OMIM:615122 ORPHA:2584 ORPHA:3162 OMIM:613646 ORPHA:244242 OMIM:226300 OMIM:618261 OMIM:224120 ORPHA:487796 OMIM:616737 ORPHA:1299 OMIM:616342 ORPHA:652 ORPHA:276152 OMIM:130650 ORPHA:397590 ORPHA:1501 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:95496 ORPHA:220386 ORPHA:586 OMIM:260570 OMIM:609812 OMIM:618620 OMIM:619319 OMIM:615703 OMIM:235400 ORPHA:498359 OMIM:211400 OMIM:219700 ORPHA:60033 OMIM:167800 ORPHA:457050 OMIM:616209 ORPHA:668 OMIM:253290 OMIM:617600 ORPHA:435651 OMIM:615238 ORPHA:3463 OMIM:604928 ORPHA:1545 ORPHA:404 OMIM:619173 ORPHA:667 OMIM:613090 OMIM:607364 ORPHA:358 OMIM:617671 OMIM:248250 ORPHA:1334 OMIM:615237 ORPHA:445038 OMIM:616271 ORPHA:486 OMIM:602668 OMIM:618500 ORPHA:556955 OMIM:616501 ORPHA:436271 OMIM:614576 ORPHA:363523 ORPHA:79333 OMIM:608779 ORPHA:95428 OMIM:228520 OMIM:114000 ORPHA:1310 ORPHA:287 OMIM:166210 ORPHA:93296 OMIM:200610 ORPHA:166011 ORPHA:85166 ORPHA:93346 OMIM:136800 ORPHA:98973 OMIM:607426 ORPHA:255249 OMIM:616276 ORPHA:139485 OMIM:612016 OMIM:615573 OMIM:614654 ORPHA:275555 ORPHA:99845 ORPHA:550 OMIM:540000 OMIM:619046 OMIM:619053 ORPHA:255241 OMIM:619355 OMIM:619054 OMIM:619060 OMIM:619064 OMIM:619062 OMIM:619051 OMIM:619059 ORPHA:48818 OMIM:604290 OMIM:619326 OMIM:212070 OMIM:237300 OMIM:619876 ORPHA:156 OMIM:255120 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:608836 OMIM:614212 OMIM:614699 OMIM:272430 OMIM:618870 ORPHA:1775 ORPHA:48431 ORPHA:900 ORPHA:891 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:103918 OMIM:256540 OMIM:614496 OMIM:618182 ORPHA:379 OMIM:306400 OMIM:618935 OMIM:615453 ORPHA:168558 ORPHA:289548 OMIM:203400 ORPHA:556030 OMIM:610600 OMIM:202110 ORPHA:91 OMIM:201910 OMIM:143880 ORPHA:909 ORPHA:41751 ORPHA:137675 ORPHA:137898 ORPHA:230 OMIM:223360 OMIM:241080 ORPHA:3464 ORPHA:314679 ORPHA:910 OMIM:608643 OMIM:618175 OMIM:619573 OMIM:251880 OMIM:617070 ORPHA:818 OMIM:613861 OMIM:618480 ORPHA:2849 OMIM:267000 OMIM:245348 OMIM:246900 ORPHA:2394 ORPHA:96184 ORPHA:254531 OMIM:616113 ORPHA:453533 ORPHA:66634 ORPHA:811 OMIM:616192 ORPHA:445062 ORPHA:36412 OMIM:619858 ORPHA:98673 ORPHA:330050 OMIM:614388 ORPHA:314404 ORPHA:269 OMIM:616433 OMIM:620066 OMIM:618389 OMIM:610768 ORPHA:86309 OMIM:222748 OMIM:605676 OMIM:614653 OMIM:619847 ORPHA:95716 ORPHA:226316 OMIM:620044 ORPHA:93271 ORPHA:268 OMIM:614924 OMIM:302960 ORPHA:35173 OMIM:616277 OMIM:305100 ORPHA:181 ORPHA:1810 OMIM:129490 OMIM:224900 OMIM:616069 OMIM:615605 ORPHA:3337 OMIM:226980 ORPHA:1667 ORPHA:199241 OMIM:603896 ORPHA:85282 OMIM:300148 OMIM:615440 ORPHA:2686 OMIM:162800 OMIM:301074 ORPHA:3019 OMIM:194050 ORPHA:1764 OMIM:223900 ORPHA:288 ORPHA:92050 ORPHA:1493 OMIM:242840 ORPHA:137667 OMIM:617300 ORPHA:90186 OMIM:607598 ORPHA:90321 OMIM:616570 OMIM:214150 OMIM:615363 ORPHA:785 OMIM:231680 OMIM:602473 ORPHA:51188 OMIM:610618 ORPHA:169805 ORPHA:169802 OMIM:276700 OMIM:614946 OMIM:613658 OMIM:618855 OMIM:616006 ORPHA:2833 ORPHA:348 OMIM:229700 OMIM:615471 ORPHA:464370 OMIM:251900 ORPHA:79278 OMIM:177000 ORPHA:98880 ORPHA:1848 ORPHA:1860 ORPHA:93274 OMIM:606812 ORPHA:3472 OMIM:216340 ORPHA:1263 ORPHA:75249 OMIM:153100 ORPHA:79452 ORPHA:449291 ORPHA:84090 OMIM:619991 ORPHA:95494 ORPHA:33001 OMIM:153400 OMIM:265380 ORPHA:261144 ORPHA:391372 ORPHA:37042 OMIM:304790 ORPHA:2609 OMIM:618241 OMIM:616819 ORPHA:466688 ORPHA:64739 OMIM:230000 OMIM:618005 ORPHA:3027 ORPHA:95 OMIM:229300 OMIM:232200 OMIM:232300 OMIM:618557 ORPHA:206436 OMIM:245200 ORPHA:79237 ORPHA:79239 OMIM:230400 ORPHA:79277 ORPHA:3226 OMIM:614038 OMIM:146255 ORPHA:2237 OMIM:600001 ORPHA:2255 OMIM:618838 OMIM:618839 OMIM:134600 ORPHA:85212 ORPHA:77259 ORPHA:77261 OMIM:608013 OMIM:232500 OMIM:231670 ORPHA:25 OMIM:619290 OMIM:233910 OMIM:606176 OMIM:602485 ORPHA:79299 OMIM:125851 ORPHA:330054 OMIM:609060 ORPHA:565624 OMIM:618397 OMIM:262400 ORPHA:633 ORPHA:314802 ORPHA:314811 ORPHA:317 ORPHA:2248 ORPHA:2710 OMIM:613480 OMIM:307030 ORPHA:324 OMIM:301500 ORPHA:79255 OMIM:230500 OMIM:253310 OMIM:175700 OMIM:610199 OMIM:616860 OMIM:606762 ORPHA:35878 OMIM:220120 ORPHA:941 ORPHA:624 OMIM:619503 OMIM:252500 OMIM:618721 ORPHA:373 ORPHA:93329 ORPHA:171 ORPHA:96182 OMIM:617667 ORPHA:85448 OMIM:266130 ORPHA:444013 OMIM:616198 ORPHA:584 OMIM:253220 OMIM:240600 ORPHA:2089 ORPHA:231140 OMIM:180860 OMIM:619950 OMIM:231530 OMIM:609975 ORPHA:71212 ORPHA:5 OMIM:609016 ORPHA:746 OMIM:609015 ORPHA:79230 ORPHA:86884 OMIM:618398 ORPHA:163596 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:309541 OMIM:261990 ORPHA:457359 OMIM:176270 ORPHA:226307 ORPHA:56 ORPHA:88639 ORPHA:179 ORPHA:397 ORPHA:29207 ORPHA:36426 ORPHA:3287 OMIM:212750 ORPHA:703 ORPHA:747 OMIM:181000 ORPHA:85414 OMIM:253270 ORPHA:79276 ORPHA:94063 ORPHA:20 OMIM:246450 ORPHA:35701 OMIM:612520 OMIM:222100 OMIM:142330 ORPHA:324575 OMIM:600496 ORPHA:261265 ORPHA:93111 ORPHA:1309 OMIM:137920 OMIM:616026 ORPHA:263455 OMIM:125850 ORPHA:352665 ORPHA:453504 OMIM:140350 ORPHA:2118 OMIM:619026 ORPHA:1525 ORPHA:2796 OMIM:218040 ORPHA:2874 OMIM:619367 OMIM:301025 OMIM:614662 ORPHA:320 OMIM:218030 ORPHA:391428 ORPHA:391457 OMIM:300438 ORPHA:90791 ORPHA:1865 ORPHA:800 OMIM:255800 OMIM:614674 OMIM:617248 OMIM:601410 ORPHA:96191 OMIM:233600 ORPHA:541423 ORPHA:436174 OMIM:616007 OMIM:615330 OMIM:613657 OMIM:619007 OMIM:614231 OMIM:615846 OMIM:619773 OMIM:182250 OMIM:618963 OMIM:209950 OMIM:266920 OMIM:615630 ORPHA:73272 OMIM:270450 OMIM:615961 ORPHA:140941 ORPHA:183675 OMIM:149700 OMIM:300291 OMIM:618549 OMIM:612852 OMIM:601942 OMIM:606367 ORPHA:276 OMIM:614204 OMIM:148000 OMIM:618944 ORPHA:169154 OMIM:258480 ORPHA:3144 OMIM:125852 OMIM:618858 OMIM:616214 OMIM:613370 OMIM:246200 OMIM:609968 ORPHA:263458 ORPHA:2297 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:602088 ORPHA:93552 ORPHA:3452 OMIM:614893 OMIM:226990 ORPHA:319600 OMIM:617613 OMIM:255125 OMIM:613385 ORPHA:228426 OMIM:614748 OMIM:613011 OMIM:106190 OMIM:243500 ORPHA:33 OMIM:118450 OMIM:619574 OMIM:619196 OMIM:619147 OMIM:616268 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:276580 ORPHA:79644 OMIM:618856 OMIM:610582 OMIM:601820 OMIM:616329 OMIM:619406 ORPHA:251274 OMIM:613677 ORPHA:3202 ORPHA:439218 OMIM:181270 ORPHA:2036 OMIM:300867 OMIM:616546 OMIM:618613 OMIM:152950 ORPHA:2526 ORPHA:2836 OMIM:256700 OMIM:619433 OMIM:607131 ORPHA:79455 OMIM:154800 OMIM:613673 OMIM:610508 OMIM:614495 OMIM:617055 OMIM:619363 ORPHA:221139 ORPHA:397612 OMIM:600268 OMIM:615785 ORPHA:79400 OMIM:161000 ORPHA:69087 OMIM:215600 ORPHA:455 ORPHA:79145 ORPHA:79155 OMIM:236792 OMIM:618795 ORPHA:258 ORPHA:79404 OMIM:609049 OMIM:615438 OMIM:617021 OMIM:215140 ORPHA:1426 ORPHA:779 OMIM:619483 OMIM:223000 ORPHA:284426 OMIM:612933 OMIM:619322 ORPHA:1306 ORPHA:66628 OMIM:614963 ORPHA:179494 OMIM:620089 OMIM:262700 OMIM:614462 ORPHA:3206 OMIM:601559 ORPHA:298 ORPHA:99812 ORPHA:75233 ORPHA:435660 OMIM:615980 OMIM:616299 OMIM:617668 OMIM:277380 OMIM:246650 ORPHA:79474 ORPHA:280365 ORPHA:2348 ORPHA:79084 ORPHA:740 OMIM:151660 OMIM:248370 ORPHA:90153 ORPHA:99027 ORPHA:79087 OMIM:608709 ORPHA:79243 OMIM:268200 ORPHA:77297 OMIM:609628 OMIM:614700 OMIM:610947 ORPHA:70472 OMIM:220111 OMIM:613177 OMIM:615595 OMIM:615838 ORPHA:167 OMIM:616564 OMIM:605275 OMIM:619004 OMIM:147630 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615279 OMIM:615280 OMIM:619087 ORPHA:2505 OMIM:615486 ORPHA:2273 ORPHA:361 OMIM:202200 OMIM:618406 ORPHA:71529 OMIM:210200 ORPHA:6 OMIM:210210 OMIM:251120 OMIM:619313 OMIM:620014 OMIM:617339 OMIM:616738 ORPHA:778 OMIM:618872 ORPHA:342 OMIM:249100 OMIM:134610 ORPHA:329967 OMIM:608068 ORPHA:3243 ORPHA:97279 OMIM:131100 ORPHA:2398 OMIM:611040 ORPHA:79329 OMIM:619269 OMIM:618329 OMIM:617228 OMIM:605231 OMIM:236700 OMIM:248360 OMIM:251100 OMIM:251110 ORPHA:79282 OMIM:277400 OMIM:277410 ORPHA:371428 OMIM:251000 ORPHA:79312 OMIM:614250 OMIM:606056 ORPHA:79330 OMIM:614741 OMIM:602579 ORPHA:79319 OMIM:256810 OMIM:607398 OMIM:618567 OMIM:618951 OMIM:614582 OMIM:615395 OMIM:618378 OMIM:610498 OMIM:617950 OMIM:611719 OMIM:618958 OMIM:617664 OMIM:617872 OMIM:301032 OMIM:614947 ORPHA:563609 ORPHA:563612 OMIM:614702 ORPHA:457485 OMIM:616638 OMIM:613559 OMIM:619127 OMIM:260920 ORPHA:343 OMIM:610377 OMIM:115197 ORPHA:183713 ORPHA:33226 OMIM:193700 ORPHA:2053 OMIM:619110 OMIM:249210 OMIM:614131 OMIM:619482 OMIM:251850 ORPHA:2290 OMIM:619366 OMIM:300855 ORPHA:2126 ORPHA:431361 ORPHA:79279 ORPHA:79280 OMIM:609242 OMIM:616239 OMIM:618321 OMIM:617186 OMIM:616483 ORPHA:649 OMIM:301020 OMIM:618243 OMIM:618236 OMIM:618244 OMIM:618249 OMIM:618235 OMIM:619065 OMIM:618253 OMIM:619272 OMIM:618247 OMIM:618234 ORPHA:70474 OMIM:618240 OMIM:618237 OMIM:618238 OMIM:618913 OMIM:618239 OMIM:618776 OMIM:619003 OMIM:301021 OMIM:618246 OMIM:620135 OMIM:618252 OMIM:618245 OMIM:619170 OMIM:618226 OMIM:618228 OMIM:618230 OMIM:252010 OMIM:618232 OMIM:618224 OMIM:618222 OMIM:618225 OMIM:618229 OMIM:613573 OMIM:263520 OMIM:617022 ORPHA:93400 OMIM:256550 OMIM:606394 OMIM:610370 ORPHA:83620 ORPHA:293978 OMIM:615577 OMIM:612132 OMIM:619386 OMIM:605711 OMIM:608654 ORPHA:404454 OMIM:615273 ORPHA:209905 ORPHA:3384 OMIM:616050 OMIM:616115 OMIM:617388 OMIM:611762 ORPHA:1451 OMIM:607115 OMIM:617772 OMIM:120100 ORPHA:47045 OMIM:191900 ORPHA:575 OMIM:614736 ORPHA:90340 OMIM:186580 OMIM:617321 OMIM:619155 OMIM:189800 OMIM:610205 ORPHA:136 OMIM:256300 OMIM:600995 OMIM:300200 OMIM:617049 OMIM:268100 ORPHA:786 OMIM:615962 OMIM:177735 OMIM:613224 OMIM:613750 OMIM:117550 OMIM:619340 ORPHA:436182 OMIM:617253 OMIM:619012 ORPHA:642 OMIM:256800 OMIM:618348 ORPHA:98794 OMIM:309000 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:203740 ORPHA:1215 OMIM:612782 OMIM:617729 ORPHA:664 OMIM:311250 OMIM:617099 OMIM:613986 OMIM:245050 OMIM:618493 OMIM:618158 OMIM:619489 OMIM:120330 ORPHA:97362 OMIM:612227 OMIM:612225 OMIM:106210 OMIM:218700 OMIM:266150 ORPHA:1578 OMIM:606054 ORPHA:35 OMIM:261680 OMIM:261650 OMIM:210720 ORPHA:71528 OMIM:600955 ORPHA:189439 OMIM:614613 ORPHA:280651 OMIM:613582 OMIM:312170 ORPHA:255138 OMIM:614111 OMIM:245349 ORPHA:255182 ORPHA:79246 OMIM:608782 OMIM:614651 OMIM:614652 OMIM:606392 OMIM:260370 OMIM:619055 OMIM:619063 ORPHA:3220 ORPHA:247815 OMIM:614866 OMIM:214110 OMIM:614863 OMIM:614921 OMIM:256520 OMIM:300559 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:261750 OMIM:613027 OMIM:209880 ORPHA:436252 OMIM:616843 OMIM:300868 ORPHA:447 ORPHA:280633 OMIM:613089 OMIM:619802 ORPHA:3163 OMIM:269880 OMIM:619405 ORPHA:53035 OMIM:263200 ORPHA:766 OMIM:266200 ORPHA:35069 OMIM:617527 ORPHA:521426 ORPHA:2387 OMIM:610725 OMIM:614468 OMIM:212093 OMIM:619360 OMIM:613877 ORPHA:280356 OMIM:617290 OMIM:618183 OMIM:212065 ORPHA:79318 ORPHA:98916 ORPHA:1170 OMIM:617954 OMIM:610717 ORPHA:98908 ORPHA:565612 ORPHA:2377 OMIM:251950 ORPHA:79096 OMIM:610090 ORPHA:319514 OMIM:614932 OMIM:614813 OMIM:616364 ORPHA:163976 OMIM:615381 ORPHA:254892 OMIM:603041 OMIM:203700 OMIM:157640 OMIM:607459 ORPHA:70595 OMIM:618528 OMIM:610131 ORPHA:3455 OMIM:619743 ORPHA:71526 OMIM:609734 OMIM:617123 OMIM:618048 OMIM:617222 OMIM:604367 ORPHA:79083 OMIM:618189 OMIM:616817 ORPHA:391408 ORPHA:457279 OMIM:616355 ORPHA:540 OMIM:603553 OMIM:615830 OMIM:261740 ORPHA:615 OMIM:615559 OMIM:600072 OMIM:610628 ORPHA:90695 OMIM:262600 OMIM:619737 OMIM:600138 OMIM:600059 ORPHA:52427 OMIM:616038 OMIM:619175 OMIM:617591 OMIM:256040 OMIM:619183 ORPHA:79350 ORPHA:69126 ORPHA:109 OMIM:609069 ORPHA:65288 ORPHA:50945 OMIM:215045 OMIM:613611 OMIM:619924 OMIM:614196 ORPHA:456312 OMIM:616263 OMIM:261640 ORPHA:2598 OMIM:600462 ORPHA:369 OMIM:232700 OMIM:261630 OMIM:618835 ORPHA:79477 OMIM:607624 ORPHA:500159 ORPHA:331206 OMIM:608033 ORPHA:88619 ORPHA:438114 OMIM:611523 OMIM:615895 OMIM:274000 ORPHA:221016 OMIM:617304 OMIM:619652 OMIM:257320 OMIM:615710 OMIM:619462 OMIM:618970 OMIM:613075 ORPHA:217335 OMIM:618852 OMIM:615355 OMIM:614922 OMIM:616479 OMIM:616260 ORPHA:544503 ORPHA:420741 OMIM:210710 OMIM:619487 OMIM:618826 OMIM:180104 OMIM:612075 OMIM:268315 ORPHA:597 OMIM:117000 ORPHA:98905 ORPHA:424107 ORPHA:466650 OMIM:619542 OMIM:145600 OMIM:255320 OMIM:617053 OMIM:614415 OMIM:613845 ORPHA:90026 ORPHA:682 OMIM:603830 OMIM:272120 OMIM:613021 ORPHA:171876 OMIM:618126 OMIM:264350 OMIM:177200 OMIM:618114 OMIM:619048 ORPHA:521411 OMIM:604377 ORPHA:466794 OMIM:252011 OMIM:619224 OMIM:619167 ORPHA:171706 OMIM:614739 OMIM:106100 ORPHA:100050 OMIM:615578 OMIM:617575 ORPHA:329249 OMIM:308240 OMIM:300310 ORPHA:48652 OMIM:606232 ORPHA:314795 ORPHA:440713 OMIM:619922 ORPHA:369873 ORPHA:398079 OMIM:613406 ORPHA:3389 OMIM:601678 OMIM:263800 OMIM:610021 OMIM:616095 OMIM:269920 OMIM:618049 ORPHA:49827 OMIM:249270 OMIM:607483 OMIM:222730 OMIM:212140 OMIM:618972 OMIM:612949 ORPHA:247585 OMIM:603471 ORPHA:247598 ORPHA:415 ORPHA:99742 OMIM:607196 ORPHA:159 OMIM:212138 OMIM:616794 ORPHA:91130 OMIM:610773 OMIM:615418 OMIM:617184 OMIM:618416 ORPHA:93298 OMIM:600972 OMIM:214700 ORPHA:168569 OMIM:602782 OMIM:227810 ORPHA:2088 ORPHA:60025 ORPHA:99843 OMIM:269250 OMIM:619525 ORPHA:79259 OMIM:232220 OMIM:232240 ORPHA:139491 OMIM:606069 OMIM:619468 OMIM:179800 OMIM:611590 ORPHA:293603 OMIM:604278 OMIM:615026 ORPHA:35710 OMIM:606824 ORPHA:69076 OMIM:222700 OMIM:242900 OMIM:618622 ORPHA:3063 ORPHA:397709 OMIM:618598 OMIM:607823 ORPHA:69735 OMIM:137940 ORPHA:2822 OMIM:619707 OMIM:608189 OMIM:256500 ORPHA:634 ORPHA:70594 OMIM:619475 OMIM:619221 ORPHA:2044 OMIM:255995 ORPHA:168572 OMIM:617635 ORPHA:391487 OMIM:614162 OMIM:616636 OMIM:618886 OMIM:615952 ORPHA:2314 OMIM:612783 OMIM:615934 ORPHA:412057 OMIM:603552 OMIM:619445 OMIM:613101 OMIM:612073 ORPHA:17 OMIM:245400 ORPHA:35706 OMIM:272200 OMIM:272300 OMIM:616684 OMIM:220110 OMIM:619381 OMIM:617389 OMIM:302060 ORPHA:101028 OMIM:616878 ORPHA:480864 OMIM:619575 OMIM:616897 OMIM:615918 ORPHA:488632 ORPHA:1930 OMIM:201400 ORPHA:199296 ORPHA:3138 OMIM:613267 OMIM:617272 OMIM:617156 OMIM:301066 ORPHA:90117 OMIM:608470 ORPHA:98964 ORPHA:281127 ORPHA:101150 OMIM:274300 OMIM:619401 OMIM:618851 ORPHA:505216 OMIM:617698 OMIM:609560 OMIM:617069 OMIM:618805 ORPHA:488618 ORPHA:99106 OMIM:301080 OMIM:301078 OMIM:618250 OMIM:614727 OMIM:617478 OMIM:614052 OMIM:226200 OMIM:616744 OMIM:142680 ORPHA:32960 OMIM:614458 OMIM:617731 ORPHA:93284 ORPHA:352530 OMIM:225750 ORPHA:247691 OMIM:192315 OMIM:253250 ORPHA:93299 OMIM:200600 OMIM:616033 OMIM:616974 OMIM:616539 OMIM:613070 ORPHA:254864 ORPHA:225 ORPHA:2596 OMIM:545000 ORPHA:1349 ORPHA:663 ORPHA:254857 OMIM:551000 OMIM:616084 ORPHA:538 OMIM:610505 ORPHA:90674 ORPHA:90673 OMIM:608800 ORPHA:168593 OMIM:619534 ORPHA:96 OMIM:610678 OMIM:616138 OMIM:609286 ORPHA:478029 OMIM:616811 OMIM:619879 OMIM:301054 ORPHA:411511 ORPHA:98795 OMIM:243800 ORPHA:2315 ORPHA:276556 OMIM:608898 OMIM:619377 OMIM:613161 OMIM:615824 OMIM:616111 OMIM:615158 OMIM:615160 OMIM:618775 OMIM:615159 ORPHA:95159 OMIM:604173 OMIM:617397 OMIM:615917 OMIM:615907 OMIM:613404 OMIM:616683 OMIM:208085 OMIM:618606 OMIM:617710 ORPHA:572798 ORPHA:906 OMIM:150550 OMIM:613610 OMIM:614091 OMIM:222300 ORPHA:411590 OMIM:614296 OMIM:614492 OMIM:614491 ORPHA:2879 OMIM:277700 ORPHA:902 OMIM:300635 OMIM:300909 ORPHA:100057 OMIM:616541 OMIM:605822 OMIM:619418 OMIM:613561 OMIM:619278 OMIM:259050 OMIM:613270 OMIM:147430 OMIM:619849 ORPHA:100996 ORPHA:90154 OMIM:608612 OMIM:619488 OMIM:619644 OMIM:260565

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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