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:
Clinical course (HP:0031797)

Parent Node:
Onset (HP:0003674)

..Starting node
..Childhood onset (HP:0011463)

Term ID:

11463

Name:

Childhood onset

Synonym:

Symptoms begin in childhood

Definition:

Onset of disease at the age of between 1 and 5 years.

Comments:

Reference:

HP:0011463

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adult onset (HP:0003581)

Antenatal onset (HP:0030674)

Congenital onset (HP:0003577)

Infantile onset (HP:0003593)

Juvenile onset (HP:0003621)

Neonatal onset (HP:0003623)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011463	HP:0011463	Childhood onset	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0011463	HP:0011463	Childhood onset	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0011463	HP:0011463	Childhood onset	0	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0011463	HP:0011463	Childhood onset	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0011463	HP:0011463	Childhood onset	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0011463	HP:0011463	Childhood onset	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0011463	HP:0011463	Childhood onset	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0011463	HP:0011463	Childhood onset	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0011463	HP:0011463	Childhood onset	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0011463	HP:0011463	Childhood onset	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0011463	HP:0011463	Childhood onset	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0011463	HP:0011463	Childhood onset	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0011463	HP:0011463	Childhood onset	0	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.	530
HP:0011463	HP:0011463	Childhood onset	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0011463	HP:0011463	Childhood onset	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0011463	HP:0011463	Childhood onset	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0011463	HP:0011463	Childhood onset	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0011463	HP:0011463	Childhood onset	0	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0011463	HP:0011463	Childhood onset	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0011463	HP:0011463	Childhood onset	0	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0011463	HP:0011463	Childhood onset	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0011463	HP:0011463	Childhood onset	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0011463	HP:0011463	Childhood onset	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked		72
HP:0011463	HP:0011463	Childhood onset	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked	.	72
HP:0011463	HP:0011463	Childhood onset	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0011463	HP:0011463	Childhood onset	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0011463	HP:0011463	Childhood onset	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0011463	HP:0011463	Childhood onset	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0011463	HP:0011463	Childhood onset	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0011463	HP:0011463	Childhood onset	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0011463	HP:0011463	Childhood onset	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0011463	HP:0011463	Childhood onset	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0011463	HP:0011463	Childhood onset	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0011463	HP:0011463	Childhood onset	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0011463	HP:0011463	Childhood onset	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0011463	HP:0011463	Childhood onset	0	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1		1
HP:0011463	HP:0011463	Childhood onset	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0011463	HP:0011463	Childhood onset	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0011463	HP:0011463	Childhood onset	0	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0011463	HP:0011463	Childhood onset	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0011463	HP:0011463	Childhood onset	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0011463	HP:0011463	Childhood onset	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0011463	HP:0011463	Childhood onset	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0011463	HP:0011463	Childhood onset	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0011463	HP:0011463	Childhood onset	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0011463	HP:0011463	Childhood onset	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0011463	HP:0011463	Childhood onset	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0011463	HP:0011463	Childhood onset	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0011463	HP:0011463	Childhood onset	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0011463	HP:0011463	Childhood onset	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1		239
HP:0011463	HP:0011463	Childhood onset	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0011463	HP:0011463	Childhood onset	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0011463	HP:0011463	Childhood onset	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0011463	HP:0011463	Childhood onset	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0011463	HP:0011463	Childhood onset	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0011463	HP:0011463	Childhood onset	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0011463	HP:0011463	Childhood onset	0	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0011463	HP:0011463	Childhood onset	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011463	HP:0011463	Childhood onset	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0011463	HP:0011463	Childhood onset	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0011463	HP:0011463	Childhood onset	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0011463	HP:0011463	Childhood onset	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0011463	HP:0011463	Childhood onset	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0011463	HP:0011463	Childhood onset	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0011463	HP:0011463	Childhood onset	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0011463	HP:0011463	Childhood onset	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0011463	HP:0011463	Childhood onset	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0011463	HP:0011463	Childhood onset	0	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112		2
HP:0011463	HP:0011463	Childhood onset	0	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types		15
HP:0011463	HP:0011463	Childhood onset	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0011463	HP:0011463	Childhood onset	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0011463	HP:0011463	Childhood onset	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0011463	HP:0011463	Childhood onset	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0011463	HP:0011463	Childhood onset	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0011463	HP:0011463	Childhood onset	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0011463	HP:0011463	Childhood onset	0	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0011463	HP:0011463	Childhood onset	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0011463	HP:0011463	Childhood onset	0	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10		5
HP:0011463	HP:0011463	Childhood onset	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0011463	HP:0011463	Childhood onset	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0011463	HP:0011463	Childhood onset	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0011463	HP:0011463	Childhood onset	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0011463	HP:0011463	Childhood onset	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0011463	HP:0011463	Childhood onset	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0011463	HP:0011463	Childhood onset	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0011463	HP:0011463	Childhood onset	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0011463	HP:0011463	Childhood onset	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		129
HP:0011463	HP:0011463	Childhood onset	0	CASQ2 CL E G H	845	1513	OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2		129
HP:0011463	HP:0011463	Childhood onset	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0011463	HP:0011463	Childhood onset	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0011463	HP:0011463	Childhood onset	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0011463	HP:0011463	Childhood onset	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0011463	HP:0011463	Childhood onset	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0011463	HP:0011463	Childhood onset	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0011463	HP:0011463	Childhood onset	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0011463	HP:0011463	Childhood onset	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0011463	HP:0011463	Childhood onset	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0011463	HP:0011463	Childhood onset	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0011463	HP:0011463	Childhood onset	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0011463	HP:0011463	Childhood onset	0	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0011463	HP:0011463	Childhood onset	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0011463	HP:0011463	Childhood onset	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0011463	HP:0011463	Childhood onset	0	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0011463	HP:0011463	Childhood onset	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0011463	HP:0011463	Childhood onset	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0011463	HP:0011463	Childhood onset	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0011463	HP:0011463	Childhood onset	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0011463	HP:0011463	Childhood onset	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0011463	HP:0011463	Childhood onset	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0011463	HP:0011463	Childhood onset	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0011463	HP:0011463	Childhood onset	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0011463	HP:0011463	Childhood onset	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0011463	HP:0011463	Childhood onset	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0011463	HP:0011463	Childhood onset	0	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1		225
HP:0011463	HP:0011463	Childhood onset	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0011463	HP:0011463	Childhood onset	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0011463	HP:0011463	Childhood onset	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0011463	HP:0011463	Childhood onset	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133
HP:0011463	HP:0011463	Childhood onset	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0011463	HP:0011463	Childhood onset	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0011463	HP:0011463	Childhood onset	0	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103		1
HP:0011463	HP:0011463	Childhood onset	0	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0011463	HP:0011463	Childhood onset	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA		60
HP:0011463	HP:0011463	Childhood onset	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0011463	HP:0011463	Childhood onset	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0011463	HP:0011463	Childhood onset	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0011463	HP:0011463	Childhood onset	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0011463	HP:0011463	Childhood onset	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0011463	HP:0011463	Childhood onset	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0011463	HP:0011463	Childhood onset	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0011463	HP:0011463	Childhood onset	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0011463	HP:0011463	Childhood onset	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0011463	HP:0011463	Childhood onset	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0011463	HP:0011463	Childhood onset	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.	110
HP:0011463	HP:0011463	Childhood onset	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0011463	HP:0011463	Childhood onset	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0011463	HP:0011463	Childhood onset	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6		39
HP:0011463	HP:0011463	Childhood onset	0	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5		49
HP:0011463	HP:0011463	Childhood onset	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced		101
HP:0011463	HP:0011463	Childhood onset	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0011463	HP:0011463	Childhood onset	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0011463	HP:0011463	Childhood onset	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12	.	156
HP:0011463	HP:0011463	Childhood onset	0	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9		12
HP:0011463	HP:0011463	Childhood onset	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0011463	HP:0011463	Childhood onset	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0011463	HP:0011463	Childhood onset	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0011463	HP:0011463	Childhood onset	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.	273
HP:0011463	HP:0011463	Childhood onset	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0011463	HP:0011463	Childhood onset	0	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0011463	HP:0011463	Childhood onset	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0011463	HP:0011463	Childhood onset	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0011463	HP:0011463	Childhood onset	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism		112
HP:0011463	HP:0011463	Childhood onset	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0011463	HP:0011463	Childhood onset	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0011463	HP:0011463	Childhood onset	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0011463	HP:0011463	Childhood onset	0	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0011463	HP:0011463	Childhood onset	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0011463	HP:0011463	Childhood onset	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0011463	HP:0011463	Childhood onset	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0011463	HP:0011463	Childhood onset	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011463	HP:0011463	Childhood onset	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0011463	HP:0011463	Childhood onset	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011463	HP:0011463	Childhood onset	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1	.	118
HP:0011463	HP:0011463	Childhood onset	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0011463	HP:0011463	Childhood onset	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0011463	HP:0011463	Childhood onset	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0011463	HP:0011463	Childhood onset	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0011463	HP:0011463	Childhood onset	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0011463	HP:0011463	Childhood onset	0	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0011463	HP:0011463	Childhood onset	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0011463	HP:0011463	Childhood onset	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0011463	HP:0011463	Childhood onset	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0011463	HP:0011463	Childhood onset	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0011463	HP:0011463	Childhood onset	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0011463	HP:0011463	Childhood onset	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0011463	HP:0011463	Childhood onset	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0011463	HP:0011463	Childhood onset	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0011463	HP:0011463	Childhood onset	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0011463	HP:0011463	Childhood onset	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0011463	HP:0011463	Childhood onset	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0011463	HP:0011463	Childhood onset	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0011463	HP:0011463	Childhood onset	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0011463	HP:0011463	Childhood onset	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0011463	HP:0011463	Childhood onset	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0011463	HP:0011463	Childhood onset	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0011463	HP:0011463	Childhood onset	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0011463	HP:0011463	Childhood onset	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0011463	HP:0011463	Childhood onset	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0011463	HP:0011463	Childhood onset	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0011463	HP:0011463	Childhood onset	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0011463	HP:0011463	Childhood onset	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0011463	HP:0011463	Childhood onset	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0011463	HP:0011463	Childhood onset	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I		96
HP:0011463	HP:0011463	Childhood onset	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0011463	HP:0011463	Childhood onset	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0011463	HP:0011463	Childhood onset	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0011463	HP:0011463	Childhood onset	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0011463	HP:0011463	Childhood onset	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0011463	HP:0011463	Childhood onset	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0011463	HP:0011463	Childhood onset	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0011463	HP:0011463	Childhood onset	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0011463	HP:0011463	Childhood onset	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0011463	HP:0011463	Childhood onset	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0011463	HP:0011463	Childhood onset	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0011463	HP:0011463	Childhood onset	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0011463	HP:0011463	Childhood onset	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0011463	HP:0011463	Childhood onset	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011463	HP:0011463	Childhood onset	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011463	HP:0011463	Childhood onset	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0011463	HP:0011463	Childhood onset	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0011463	HP:0011463	Childhood onset	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011463	HP:0011463	Childhood onset	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0011463	HP:0011463	Childhood onset	0	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4		184
HP:0011463	HP:0011463	Childhood onset	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0011463	HP:0011463	Childhood onset	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0011463	HP:0011463	Childhood onset	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	111
HP:0011463	HP:0011463	Childhood onset	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0011463	HP:0011463	Childhood onset	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2		23
HP:0011463	HP:0011463	Childhood onset	0	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1		143
HP:0011463	HP:0011463	Childhood onset	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0011463	HP:0011463	Childhood onset	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0011463	HP:0011463	Childhood onset	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0011463	HP:0011463	Childhood onset	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0011463	HP:0011463	Childhood onset	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0011463	HP:0011463	Childhood onset	0	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0011463	HP:0011463	Childhood onset	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0011463	HP:0011463	Childhood onset	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency		52
HP:0011463	HP:0011463	Childhood onset	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0011463	HP:0011463	Childhood onset	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0011463	HP:0011463	Childhood onset	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0011463	HP:0011463	Childhood onset	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0011463	HP:0011463	Childhood onset	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0011463	HP:0011463	Childhood onset	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0011463	HP:0011463	Childhood onset	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0011463	HP:0011463	Childhood onset	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0011463	HP:0011463	Childhood onset	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0011463	HP:0011463	Childhood onset	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0011463	HP:0011463	Childhood onset	0	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome		98
HP:0011463	HP:0011463	Childhood onset	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011463	HP:0011463	Childhood onset	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0011463	HP:0011463	Childhood onset	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0011463	HP:0011463	Childhood onset	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011463	HP:0011463	Childhood onset	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0011463	HP:0011463	Childhood onset	0	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0011463	HP:0011463	Childhood onset	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0011463	HP:0011463	Childhood onset	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0011463	HP:0011463	Childhood onset	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0011463	HP:0011463	Childhood onset	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0011463	HP:0011463	Childhood onset	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0011463	HP:0011463	Childhood onset	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0011463	HP:0011463	Childhood onset	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0011463	HP:0011463	Childhood onset	0	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101		3
HP:0011463	HP:0011463	Childhood onset	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0011463	HP:0011463	Childhood onset	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0011463	HP:0011463	Childhood onset	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0011463	HP:0011463	Childhood onset	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0011463	HP:0011463	Childhood onset	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0011463	HP:0011463	Childhood onset	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0011463	HP:0011463	Childhood onset	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24		54
HP:0011463	HP:0011463	Childhood onset	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0011463	HP:0011463	Childhood onset	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0011463	HP:0011463	Childhood onset	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0011463	HP:0011463	Childhood onset	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0011463	HP:0011463	Childhood onset	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0011463	HP:0011463	Childhood onset	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0011463	HP:0011463	Childhood onset	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0011463	HP:0011463	Childhood onset	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess		14
HP:0011463	HP:0011463	Childhood onset	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0011463	HP:0011463	Childhood onset	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0011463	HP:0011463	Childhood onset	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0011463	HP:0011463	Childhood onset	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0011463	HP:0011463	Childhood onset	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0011463	HP:0011463	Childhood onset	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0011463	HP:0011463	Childhood onset	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0011463	HP:0011463	Childhood onset	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0011463	HP:0011463	Childhood onset	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0011463	HP:0011463	Childhood onset	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0011463	HP:0011463	Childhood onset	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0011463	HP:0011463	Childhood onset	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0011463	HP:0011463	Childhood onset	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0011463	HP:0011463	Childhood onset	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0011463	HP:0011463	Childhood onset	0	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0011463	HP:0011463	Childhood onset	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0011463	HP:0011463	Childhood onset	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0011463	HP:0011463	Childhood onset	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0011463	HP:0011463	Childhood onset	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0011463	HP:0011463	Childhood onset	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0011463	HP:0011463	Childhood onset	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0011463	HP:0011463	Childhood onset	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0011463	HP:0011463	Childhood onset	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0011463	HP:0011463	Childhood onset	0	IRF7 CL E G H	3665	6122	OMIM:616345	Immunodeficiency 39		2
HP:0011463	HP:0011463	Childhood onset	0	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A		5
HP:0011463	HP:0011463	Childhood onset	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0011463	HP:0011463	Childhood onset	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0011463	HP:0011463	Childhood onset	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0011463	HP:0011463	Childhood onset	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0011463	HP:0011463	Childhood onset	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0011463	HP:0011463	Childhood onset	0	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16		1
HP:0011463	HP:0011463	Childhood onset	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0011463	HP:0011463	Childhood onset	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32		13
HP:0011463	HP:0011463	Childhood onset	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0011463	HP:0011463	Childhood onset	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0011463	HP:0011463	Childhood onset	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0011463	HP:0011463	Childhood onset	0	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1		730
HP:0011463	HP:0011463	Childhood onset	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46		5
HP:0011463	HP:0011463	Childhood onset	0	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5		321
HP:0011463	HP:0011463	Childhood onset	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0011463	HP:0011463	Childhood onset	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0011463	HP:0011463	Childhood onset	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0011463	HP:0011463	Childhood onset	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2		8
HP:0011463	HP:0011463	Childhood onset	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0011463	HP:0011463	Childhood onset	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0011463	HP:0011463	Childhood onset	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0011463	HP:0011463	Childhood onset	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0011463	HP:0011463	Childhood onset	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0011463	HP:0011463	Childhood onset	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0011463	HP:0011463	Childhood onset	0	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0011463	HP:0011463	Childhood onset	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0011463	HP:0011463	Childhood onset	0	KRT14 CL E G H	3861	6416	OMIM:131800	Epidermolysis bullosa simplex, Weber-Cockayne type		110
HP:0011463	HP:0011463	Childhood onset	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0011463	HP:0011463	Childhood onset	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0011463	HP:0011463	Childhood onset	0	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3		5
HP:0011463	HP:0011463	Childhood onset	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0011463	HP:0011463	Childhood onset	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0011463	HP:0011463	Childhood onset	0	LAMA5 CL E G H	3911	6485	OMIM:620049			5
HP:0011463	HP:0011463	Childhood onset	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0011463	HP:0011463	Childhood onset	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0011463	HP:0011463	Childhood onset	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0011463	HP:0011463	Childhood onset	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0011463	HP:0011463	Childhood onset	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0011463	HP:0011463	Childhood onset	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0011463	HP:0011463	Childhood onset	0	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8		1
HP:0011463	HP:0011463	Childhood onset	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0011463	HP:0011463	Childhood onset	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0011463	HP:0011463	Childhood onset	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0011463	HP:0011463	Childhood onset	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0011463	HP:0011463	Childhood onset	0	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28		4
HP:0011463	HP:0011463	Childhood onset	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0011463	HP:0011463	Childhood onset	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0011463	HP:0011463	Childhood onset	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0011463	HP:0011463	Childhood onset	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0011463	HP:0011463	Childhood onset	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0011463	HP:0011463	Childhood onset	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0011463	HP:0011463	Childhood onset	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0011463	HP:0011463	Childhood onset	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0011463	HP:0011463	Childhood onset	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011463	HP:0011463	Childhood onset	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0011463	HP:0011463	Childhood onset	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0011463	HP:0011463	Childhood onset	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0011463	HP:0011463	Childhood onset	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0011463	HP:0011463	Childhood onset	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0011463	HP:0011463	Childhood onset	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.	950
HP:0011463	HP:0011463	Childhood onset	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0011463	HP:0011463	Childhood onset	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0011463	HP:0011463	Childhood onset	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0011463	HP:0011463	Childhood onset	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0011463	HP:0011463	Childhood onset	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38		75
HP:0011463	HP:0011463	Childhood onset	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0011463	HP:0011463	Childhood onset	0	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3		7
HP:0011463	HP:0011463	Childhood onset	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0011463	HP:0011463	Childhood onset	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0011463	HP:0011463	Childhood onset	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0011463	HP:0011463	Childhood onset	0	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0011463	HP:0011463	Childhood onset	0	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0011463	HP:0011463	Childhood onset	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0011463	HP:0011463	Childhood onset	0	MSX1 CL E G H	4487	7391	OMIM:106600	Tooth agenesis, selective, 1		12
HP:0011463	HP:0011463	Childhood onset	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0011463	HP:0011463	Childhood onset	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0011463	HP:0011463	Childhood onset	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0011463	HP:0011463	Childhood onset	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0011463	HP:0011463	Childhood onset	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0011463	HP:0011463	Childhood onset	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0011463	HP:0011463	Childhood onset	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0011463	HP:0011463	Childhood onset	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0011463	HP:0011463	Childhood onset	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0011463	HP:0011463	Childhood onset	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0011463	HP:0011463	Childhood onset	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0011463	HP:0011463	Childhood onset	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0011463	HP:0011463	Childhood onset	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0011463	HP:0011463	Childhood onset	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0011463	HP:0011463	Childhood onset	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0011463	HP:0011463	Childhood onset	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0011463	HP:0011463	Childhood onset	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0011463	HP:0011463	Childhood onset	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0011463	HP:0011463	Childhood onset	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0011463	HP:0011463	Childhood onset	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0011463	HP:0011463	Childhood onset	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0011463	HP:0011463	Childhood onset	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0011463	HP:0011463	Childhood onset	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0011463	HP:0011463	Childhood onset	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0011463	HP:0011463	Childhood onset	0	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary		51
HP:0011463	HP:0011463	Childhood onset	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0011463	HP:0011463	Childhood onset	0	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	.	24
HP:0011463	HP:0011463	Childhood onset	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.	57
HP:0011463	HP:0011463	Childhood onset	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0011463	HP:0011463	Childhood onset	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0011463	HP:0011463	Childhood onset	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0011463	HP:0011463	Childhood onset	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0011463	HP:0011463	Childhood onset	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2		69
HP:0011463	HP:0011463	Childhood onset	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0011463	HP:0011463	Childhood onset	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0011463	HP:0011463	Childhood onset	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0011463	HP:0011463	Childhood onset	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0011463	HP:0011463	Childhood onset	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0011463	HP:0011463	Childhood onset	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile		7
HP:0011463	HP:0011463	Childhood onset	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0011463	HP:0011463	Childhood onset	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94
HP:0011463	HP:0011463	Childhood onset	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	.	88
HP:0011463	HP:0011463	Childhood onset	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0011463	HP:0011463	Childhood onset	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0011463	HP:0011463	Childhood onset	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0011463	HP:0011463	Childhood onset	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0011463	HP:0011463	Childhood onset	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0011463	HP:0011463	Childhood onset	0	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1		3
HP:0011463	HP:0011463	Childhood onset	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0011463	HP:0011463	Childhood onset	0	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0011463	HP:0011463	Childhood onset	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40		126
HP:0011463	HP:0011463	Childhood onset	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0011463	HP:0011463	Childhood onset	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0011463	HP:0011463	Childhood onset	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0011463	HP:0011463	Childhood onset	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011463	HP:0011463	Childhood onset	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0011463	HP:0011463	Childhood onset	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0011463	HP:0011463	Childhood onset	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0011463	HP:0011463	Childhood onset	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0011463	HP:0011463	Childhood onset	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0011463	HP:0011463	Childhood onset	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0011463	HP:0011463	Childhood onset	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0011463	HP:0011463	Childhood onset	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0011463	HP:0011463	Childhood onset	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0011463	HP:0011463	Childhood onset	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0011463	HP:0011463	Childhood onset	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0011463	HP:0011463	Childhood onset	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0011463	HP:0011463	Childhood onset	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5		135
HP:0011463	HP:0011463	Childhood onset	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0011463	HP:0011463	Childhood onset	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0011463	HP:0011463	Childhood onset	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0011463	HP:0011463	Childhood onset	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0011463	HP:0011463	Childhood onset	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0011463	HP:0011463	Childhood onset	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0011463	HP:0011463	Childhood onset	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0011463	HP:0011463	Childhood onset	0	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy		759
HP:0011463	HP:0011463	Childhood onset	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q		759
HP:0011463	HP:0011463	Childhood onset	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0011463	HP:0011463	Childhood onset	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0011463	HP:0011463	Childhood onset	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0011463	HP:0011463	Childhood onset	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0011463	HP:0011463	Childhood onset	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0011463	HP:0011463	Childhood onset	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0011463	HP:0011463	Childhood onset	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0011463	HP:0011463	Childhood onset	0	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70		60
HP:0011463	HP:0011463	Childhood onset	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0011463	HP:0011463	Childhood onset	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0011463	HP:0011463	Childhood onset	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0011463	HP:0011463	Childhood onset	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0011463	HP:0011463	Childhood onset	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0011463	HP:0011463	Childhood onset	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0011463	HP:0011463	Childhood onset	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0011463	HP:0011463	Childhood onset	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0011463	HP:0011463	Childhood onset	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile		8
HP:0011463	HP:0011463	Childhood onset	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0011463	HP:0011463	Childhood onset	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0011463	HP:0011463	Childhood onset	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0011463	HP:0011463	Childhood onset	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0011463	HP:0011463	Childhood onset	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0011463	HP:0011463	Childhood onset	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0011463	HP:0011463	Childhood onset	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0011463	HP:0011463	Childhood onset	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0011463	HP:0011463	Childhood onset	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0011463	HP:0011463	Childhood onset	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0011463	HP:0011463	Childhood onset	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.	49
HP:0011463	HP:0011463	Childhood onset	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1		73
HP:0011463	HP:0011463	Childhood onset	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0011463	HP:0011463	Childhood onset	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0011463	HP:0011463	Childhood onset	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0011463	HP:0011463	Childhood onset	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0011463	HP:0011463	Childhood onset	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0011463	HP:0011463	Childhood onset	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0011463	HP:0011463	Childhood onset	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0011463	HP:0011463	Childhood onset	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0011463	HP:0011463	Childhood onset	0	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0011463	HP:0011463	Childhood onset	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0011463	HP:0011463	Childhood onset	0	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0011463	HP:0011463	Childhood onset	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13		45
HP:0011463	HP:0011463	Childhood onset	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0011463	HP:0011463	Childhood onset	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0011463	HP:0011463	Childhood onset	0	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0011463	HP:0011463	Childhood onset	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1		107
HP:0011463	HP:0011463	Childhood onset	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4		107
HP:0011463	HP:0011463	Childhood onset	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0011463	HP:0011463	Childhood onset	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0011463	HP:0011463	Childhood onset	0	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis		37
HP:0011463	HP:0011463	Childhood onset	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0011463	HP:0011463	Childhood onset	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0011463	HP:0011463	Childhood onset	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0011463	HP:0011463	Childhood onset	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0011463	HP:0011463	Childhood onset	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0011463	HP:0011463	Childhood onset	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20		129
HP:0011463	HP:0011463	Childhood onset	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0011463	HP:0011463	Childhood onset	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0011463	HP:0011463	Childhood onset	0	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13	.	3
HP:0011463	HP:0011463	Childhood onset	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0011463	HP:0011463	Childhood onset	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0011463	HP:0011463	Childhood onset	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10		2
HP:0011463	HP:0011463	Childhood onset	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0011463	HP:0011463	Childhood onset	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0011463	HP:0011463	Childhood onset	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		1103
HP:0011463	HP:0011463	Childhood onset	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0011463	HP:0011463	Childhood onset	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011463	HP:0011463	Childhood onset	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0011463	HP:0011463	Childhood onset	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0011463	HP:0011463	Childhood onset	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.	1053
HP:0011463	HP:0011463	Childhood onset	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4		70
HP:0011463	HP:0011463	Childhood onset	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0011463	HP:0011463	Childhood onset	0	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0011463	HP:0011463	Childhood onset	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3		1134
HP:0011463	HP:0011463	Childhood onset	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0011463	HP:0011463	Childhood onset	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0011463	HP:0011463	Childhood onset	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0011463	HP:0011463	Childhood onset	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0011463	HP:0011463	Childhood onset	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0011463	HP:0011463	Childhood onset	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0011463	HP:0011463	Childhood onset	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0011463	HP:0011463	Childhood onset	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0011463	HP:0011463	Childhood onset	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0011463	HP:0011463	Childhood onset	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0011463	HP:0011463	Childhood onset	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0011463	HP:0011463	Childhood onset	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0011463	HP:0011463	Childhood onset	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0011463	HP:0011463	Childhood onset	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0011463	HP:0011463	Childhood onset	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0011463	HP:0011463	Childhood onset	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0011463	HP:0011463	Childhood onset	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0011463	HP:0011463	Childhood onset	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0011463	HP:0011463	Childhood onset	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0011463	HP:0011463	Childhood onset	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0011463	HP:0011463	Childhood onset	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0011463	HP:0011463	Childhood onset	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0011463	HP:0011463	Childhood onset	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)		36
HP:0011463	HP:0011463	Childhood onset	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0011463	HP:0011463	Childhood onset	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0011463	HP:0011463	Childhood onset	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0011463	HP:0011463	Childhood onset	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0011463	HP:0011463	Childhood onset	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0011463	HP:0011463	Childhood onset	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0011463	HP:0011463	Childhood onset	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0011463	HP:0011463	Childhood onset	0	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4	.	12
HP:0011463	HP:0011463	Childhood onset	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0011463	HP:0011463	Childhood onset	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37
HP:0011463	HP:0011463	Childhood onset	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0011463	HP:0011463	Childhood onset	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0011463	HP:0011463	Childhood onset	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0011463	HP:0011463	Childhood onset	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0011463	HP:0011463	Childhood onset	0	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0011463	HP:0011463	Childhood onset	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0011463	HP:0011463	Childhood onset	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0011463	HP:0011463	Childhood onset	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0011463	HP:0011463	Childhood onset	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0011463	HP:0011463	Childhood onset	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0011463	HP:0011463	Childhood onset	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0011463	HP:0011463	Childhood onset	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0011463	HP:0011463	Childhood onset	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0011463	HP:0011463	Childhood onset	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0011463	HP:0011463	Childhood onset	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0011463	HP:0011463	Childhood onset	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0011463	HP:0011463	Childhood onset	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0011463	HP:0011463	Childhood onset	0	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.	1129
HP:0011463	HP:0011463	Childhood onset	0	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	.	508
HP:0011463	HP:0011463	Childhood onset	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0011463	HP:0011463	Childhood onset	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0011463	HP:0011463	Childhood onset	0	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.	42
HP:0011463	HP:0011463	Childhood onset	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0011463	HP:0011463	Childhood onset	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0011463	HP:0011463	Childhood onset	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0011463	HP:0011463	Childhood onset	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0011463	HP:0011463	Childhood onset	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011463	HP:0011463	Childhood onset	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0011463	HP:0011463	Childhood onset	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0011463	HP:0011463	Childhood onset	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0011463	HP:0011463	Childhood onset	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0011463	HP:0011463	Childhood onset	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0011463	HP:0011463	Childhood onset	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0011463	HP:0011463	Childhood onset	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0011463	HP:0011463	Childhood onset	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0011463	HP:0011463	Childhood onset	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0011463	HP:0011463	Childhood onset	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0011463	HP:0011463	Childhood onset	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0011463	HP:0011463	Childhood onset	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0011463	HP:0011463	Childhood onset	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0011463	HP:0011463	Childhood onset	0	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8		111
HP:0011463	HP:0011463	Childhood onset	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0011463	HP:0011463	Childhood onset	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0011463	HP:0011463	Childhood onset	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0011463	HP:0011463	Childhood onset	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0011463	HP:0011463	Childhood onset	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0011463	HP:0011463	Childhood onset	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011463	HP:0011463	Childhood onset	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0011463	HP:0011463	Childhood onset	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0011463	HP:0011463	Childhood onset	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0011463	HP:0011463	Childhood onset	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1		145
HP:0011463	HP:0011463	Childhood onset	0	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5		145
HP:0011463	HP:0011463	Childhood onset	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0011463	HP:0011463	Childhood onset	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0011463	HP:0011463	Childhood onset	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0011463	HP:0011463	Childhood onset	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0011463	HP:0011463	Childhood onset	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0011463	HP:0011463	Childhood onset	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0011463	HP:0011463	Childhood onset	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0011463	HP:0011463	Childhood onset	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0011463	HP:0011463	Childhood onset	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.	7128
HP:0011463	HP:0011463	Childhood onset	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0011463	HP:0011463	Childhood onset	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0011463	HP:0011463	Childhood onset	0	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7		76
HP:0011463	HP:0011463	Childhood onset	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0011463	HP:0011463	Childhood onset	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0011463	HP:0011463	Childhood onset	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0011463	HP:0011463	Childhood onset	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0011463	HP:0011463	Childhood onset	0	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0011463	HP:0011463	Childhood onset	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0011463	HP:0011463	Childhood onset	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0011463	HP:0011463	Childhood onset	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0011463	HP:0011463	Childhood onset	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0011463	HP:0011463	Childhood onset	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0011463	HP:0011463	Childhood onset	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0011463	HP:0011463	Childhood onset	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0011463	HP:0011463	Childhood onset	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0011463	HP:0011463	Childhood onset	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0011463	HP:0011463	Childhood onset	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0011463	HP:0011463	Childhood onset	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0011463	HP:0011463	Childhood onset	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0011463	HP:0011463	Childhood onset	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0011463	HP:0011463	Childhood onset	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant		389
HP:0011463	HP:0011463	Childhood onset	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0011463	HP:0011463	Childhood onset	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.	177
HP:0011463	HP:0011463	Childhood onset	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0011463	HP:0011463	Childhood onset	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0011463	HP:0011463	Childhood onset	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0011463	HP:0011463	Childhood onset	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0011463	HP:0011463	Childhood onset	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0011463	HP:0011463	Childhood onset	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (594) :AAAS ABCA4 ABCB6 ABHD12 ACO2 ACP5 ACSL4 ACTC1 ADA2 ADAMTS19 ADAR ADCY3 ADGRV1 ADPRS AEBP1 AGA AGPAT2 AGRN AGTPBP1 AICDA AIFM1 AIRE ALAS2 ALDH5A1 ALG10B ALG2 ALPK3 ALS2 ANK1 ANKS6 ANTXR2 APC2 APCDD1 APRT APTX AQP5 ARG1 ARL6IP1 ARSB ARSK ASAH1 ASPH ATM ATP11A ATP13A3 ATP1A2 ATP1A3 ATP2A1 ATP2B1 ATP2B2 ATP5F1D ATP5MC3 ATP6AP1 ATP6V0A4 ATP7B ATR ATRX B3GALNT2 BAAT BANF1 BDP1 BFSP1 BICD2 BTD BTK C19ORF12 C3 CACNA1H CACNB4 CACNG2 CADM3 CALM1 CALM2 CAPN3 CARD9 CARMIL2 CASK CASQ2 CASR CAV1 CBLIF CBS CC2D1A CCDC134 CCDC39 CCDC78 CCT5 CD19 CD46 CDH2 CEP78 CFAP410 CFB CFI CFL2 CFTR CHCHD10 CHD2 CHKA CHM CHP1 CHRNA2 CHRNA4 CHRNE CIC CLCN1 CLCN2 CLCN7 CLIC5 CLPB CLRN1 CNGA3 CNP COA8 COL10A1 COL18A1 COL1A1 COL1A2 COL2A1 COL4A1 COL6A2 COL9A2 COPA COPB2 COQ6 CPA6 CPT2 CRAT CRB1 CRB2 CSF1R CTNNBL1 CTSD CUBN CWF19L1 CXCR2 CYB561 CYBB CYP11B1 CYP2U1 CYP3A4 CYP7B1 DAAM2 DAG1 DARS1 DBR1 DDB1 DDHD2 DEF6 DIAPH1 DMD DNAH11 DNAH9 DNAJC3 DNAJC30 DNASE1L3 DOK7 DPAGT1 DPYD DSTYK DYNC1H1 DZIP1L ECM1 EDAR EDARADD EFL1 EIF2AK2 ELF4 EMC10 EMD EMILIN1 ENPP1 EPRS1 ERCC4 ERCC6 ERF EXOC7 EXT1 EXT2 F13A1 F2 FA2H FANCB FBLN5 FBXO7 FCGR2A FCHO1 FCSK FDXR FECH FGA FGB FGD4 FGF14 FGG FHL1 FKTN FLG FLNC FLVCR1 FMR1 FOXE3 FOXP2 FRG1 FRRS1L FTSJ1 G6PC1 G6PD GABRG2 GALC GALE GBA1 GBA2 GBF1 GCDH GCH1 GDAP1 GEMIN5 GFAP GFPT1 GHR GIMAP5 GJB2 GLB1 GLRA2 GMPPB GNB2 GNPTAB GNS GON7 GOSR2 GPIHBP1 GPR101 GRXCR2 GTPBP2 GUCY2D GYG1 HABP2 HAVCR2 HAX1 HCN1 HDAC4 HEPACAM HGSNAT HINT1 HK1 HPDL HPRT1 HSD11B2 HSPG2 HYAL1 HYDIN ICOS IDH3A IDS IDUA IFIH1 IFT140 IGHM IKBKB IKZF1 IL11RA IL17RC IL21R IL36RN IL6ST IMPDH1 IMPG2 INPP5K INSR IRF2BPL IRF7 IRF8 ISCU ITK JAG1 JAG2 KANK2 KBTBD13 KCNA2 KCNB1 KCNH2 KCNN2 KCNQ1 KCNQ5 KCNT1 KCTD17 KDELR2 KDM5C KERA KIF12 KIF3B KIRREL1 KLC2 KMT2B KPTN KRT1 KRT14 KRT5 KRT74 LACC1 LAMA2 LAMA5 LEP LETM1 LGI3 LIG1 LIG3 LIMS2 LIPN LMBRD1 LMNA LOXL3 LPIN1 LRIG2 LYRM7 MACF1 MAD2L2 MAFB MAG MAP2K2 MAPK8IP3 MARCHF6 MARS1 MARS2 MCM3AP MCM6 MECP2 MECR MEFV MERTK MLIP MLPH MMP14 MMP2 MOCOS MPZL2 MS4A1 MSMO1 MSX1 MTHFR MTRFR MTX2 MYH7 MYO5B MYPN NAXD NAXE NBEA NDP NDST1 NDUFA6 NDUFAF6 NDUFC2 NEFL NEMF NF1 NFIX NFKB1 NFKB2 NFU1 NKX2-1 NKX6-2 NLGN3 NLGN4X NLRP3 NMNAT1 NPC2 NPHS2 NR0B1 NR4A2 NSD1 NUBPL NUP133 NUP62 NUS1 OAT OCRL OFD1 OPA1 OTC P3H2 PADI3 PANK2 PANK4 PDE6B PDE6G PDGFB PDGFRB PEPD PET117 PEX10 PEX16 PGAP1 PHKA2 PHKB PHKG2 PI4KA PIDD1 PIGM PIK3CD PIK3R1 PITPNM3 PITRM1 PKHD1 PKLR PLA2G6 PLCE1 PLCG2 PLEC PLEKHG5 PLEKHM1 PLP1 PLXNA1 PMM2 PMP22 PNKD PNPT1 POC1B POLA1 POLR1C POLR3A POLR3B POLRMT PPA2 PPCS PPP3CA PRDM12 PRKAG2 PRKG2 PRKRA PRNP PROM1 PRPF8 PRPS1 PRSS12 PRX PSMB8 PSMD12 PURA PUS7 PYGM PYROXD1 RAC1 RACGAP1 RAF1 RAX2 RDH12 REEP1 REL REST RHO RIPOR2 RMRP RNF170 RNF220 RORB RP1 RP2 RPE65 RPGR RPS26 RPS29 RRM2B RSPH9 RTN4IP1 RYR1 RYR2 SAMD9 SASH3 SBF2 SCAPER SCN1A SCN3A SCN4B SCN5A SCN8A SDHB SEC23B SERPING1 SETD1A SFRP4 SGCD SGCG SGPL1 SGSH SH2D1A SH3BP2 SH3TC2 SIN3A SLC12A6 SLC13A3 SLC16A1 SLC19A2 SLC19A3 SLC20A2 SLC22A5 SLC25A19 SLC30A9 SLC34A2 SLC38A3 SLC39A4 SLC39A7 SLC4A4 SMPD1 SMPX SNORD118 SNRPN SNX14 SOCS1 SOX11 SPART SPATA5L1 SPG11 SPTLC2 STAT1 STAT2 STAT3 STEAP3 STK11 STS STT3A STX11 STXBP2 SVIL SYNE1 SYNE2 SYT2 TACO1 TACSTD2 TBC1D24 TBC1D2B TBCE TBX18 TCF3 TCF4 TECRL TFG TGFB1 THRB TIAM1 TIMM8A TINF2 TK2 TMEM240 TMEM38B TMEM63C TMPRSS3 TNFAIP3 TP63 TPK1 TPM1 TPM2 TPP2 TPRKB TRAPPC10 TRAPPC6B TRDN TREX1 TRIO TRIP13 TRNT1 TRPV4 TRRAP TTLL5 TTN TUBB4B TULP3 TUSC3 UBAP1 UFSP2 UNC13D UNC45B UNG UPF3B UROC1 USP53 VHL VPS16 VPS37A VPS41 VWA1 WARS2 WDR19 WDR62 WFS1 WNT10A WT1 XIAP XPC ZFYVE19 ZMYND10 ZNF711 ZNFX1

Diseases (622) :OMIM:231550 OMIM:604116 OMIM:615402 OMIM:612674 OMIM:616289 OMIM:607944 OMIM:300387 OMIM:613424 OMIM:615688 OMIM:620067 OMIM:615010 OMIM:617885 OMIM:604352 OMIM:618170 OMIM:618000 OMIM:208400 OMIM:608594 OMIM:615120 OMIM:618276 OMIM:605258 OMIM:300232 OMIM:240300 OMIM:300751 OMIM:300752 OMIM:271980 OMIM:613688 OMIM:607906 OMIM:618052 OMIM:205100 OMIM:606353 OMIM:607225 OMIM:182900 OMIM:615382 OMIM:228600 OMIM:617169 OMIM:605389 OMIM:614723 OMIM:208920 OMIM:600231 OMIM:207800 OMIM:615685 OMIM:253200 OMIM:619698 OMIM:228000 OMIM:159950 OMIM:601552 OMIM:208900 OMIM:619810 OMIM:265400 OMIM:104290 OMIM:619605 OMIM:601338 OMIM:619606 OMIM:128235 OMIM:601003 OMIM:619910 OMIM:619804 OMIM:618120 OMIM:619681 OMIM:300972 OMIM:602722 OMIM:277900 OMIM:614564 OMIM:301040 OMIM:615181 OMIM:619232 OMIM:614008 OMIM:618257 OMIM:611391 OMIM:615290 OMIM:253260 OMIM:300755 OMIM:614298 OMIM:613779 OMIM:612925 OMIM:617027 OMIM:607682 OMIM:614256 OMIM:619519 OMIM:614916 OMIM:616249 OMIM:618129 OMIM:253600 OMIM:212050 OMIM:618131 OMIM:300908 OMIM:604772 OMIM:611938 OMIM:601198 OMIM:615343 OMIM:261000 OMIM:236200 OMIM:608443 OMIM:619795 OMIM:613807 OMIM:614807 OMIM:256840 OMIM:613493 OMIM:612922 OMIM:619957 OMIM:617236 OMIM:602271 OMIM:615561 OMIM:610984 OMIM:612923 OMIM:610687 OMIM:219700 OMIM:616209 OMIM:615369 OMIM:620023 OMIM:303100 OMIM:618438 OMIM:610353 OMIM:600513 OMIM:608931 OMIM:617600 OMIM:160800 OMIM:255700 OMIM:615651 OMIM:611490 OMIM:616042 OMIM:619813 OMIM:276902 OMIM:216900 OMIM:619071 OMIM:619061 OMIM:156500 OMIM:267750 OMIM:619115 OMIM:619120 OMIM:616583 OMIM:175780 OMIM:255600 OMIM:600204 OMIM:616414 OMIM:619884 OMIM:614650 OMIM:614417 OMIM:255110 OMIM:617917 OMIM:613835 OMIM:600105 OMIM:616220 OMIM:618476 OMIM:619846 OMIM:610127 OMIM:261100 OMIM:616127 OMIM:619407 OMIM:618182 OMIM:306400 OMIM:103900 OMIM:615030 OMIM:619073 OMIM:270800 OMIM:619263 OMIM:613818 OMIM:615281 OMIM:619441 OMIM:619426 OMIM:615033 OMIM:619573 OMIM:124900 OMIM:310200 OMIM:611884 OMIM:618300 OMIM:616192 OMIM:619382 OMIM:614420 OMIM:254300 OMIM:614750 OMIM:274270 OMIM:270750 OMIM:158600 OMIM:617610 OMIM:247100 OMIM:224900 OMIM:617941 OMIM:619687 OMIM:301074 OMIM:619264 OMIM:310300 OMIM:620080 OMIM:615522 OMIM:613312 OMIM:617951 OMIM:278760 OMIM:133540 OMIM:278800 OMIM:600775 OMIM:619072 OMIM:133700 OMIM:133701 OMIM:188050 OMIM:612319 OMIM:300514 OMIM:619764 OMIM:608895 OMIM:260300 OMIM:619164 OMIM:618324 OMIM:617717 OMIM:177000 OMIM:202400 OMIM:609311 OMIM:193003 OMIM:300280 OMIM:613152 OMIM:146700 OMIM:617047 OMIM:609033 OMIM:300624 OMIM:610256 OMIM:602081 OMIM:158900 OMIM:616981 OMIM:309549 OMIM:232200 OMIM:607681 OMIM:245200 OMIM:230350 OMIM:231000 OMIM:614409 OMIM:606483 OMIM:231670 OMIM:128230 OMIM:607706 OMIM:608340 OMIM:619333 OMIM:203450 OMIM:262500 OMIM:619463 OMIM:124500 OMIM:230600 OMIM:301076 OMIM:615352 OMIM:619464 OMIM:252500 OMIM:252600 OMIM:252940 OMIM:619603 OMIM:614018 OMIM:615947 OMIM:300942 OMIM:615837 OMIM:617988 OMIM:601777 OMIM:616199 OMIM:618398 OMIM:610738 OMIM:615871 OMIM:619797 OMIM:613925 OMIM:252930 OMIM:137200 OMIM:617460 OMIM:619026 OMIM:300322 OMIM:218030 OMIM:255800 OMIM:601492 OMIM:608647 OMIM:607594 OMIM:619007 OMIM:309900 OMIM:607015 OMIM:182250 OMIM:617781 OMIM:266920 OMIM:601495 OMIM:618204 OMIM:616873 OMIM:614188 OMIM:616445 OMIM:615207 OMIM:614204 OMIM:619752 OMIM:180105 OMIM:613581 OMIM:617404 OMIM:609968 OMIM:618088 OMIM:616345 OMIM:614893 OMIM:255125 OMIM:613011 OMIM:118450 OMIM:619574 OMIM:619566 OMIM:617783 OMIM:609273 OMIM:616366 OMIM:616056 OMIM:619725 OMIM:192500 OMIM:617601 OMIM:615005 OMIM:616398 OMIM:619131 OMIM:300534 OMIM:217300 OMIM:619662 OMIM:618955 OMIM:619201 OMIM:609541 OMIM:617284 OMIM:615637 OMIM:607654 OMIM:131760 OMIM:131800 OMIM:131960 OMIM:613981 OMIM:618795 OMIM:618138 OMIM:620049 OMIM:614962 OMIM:620089 OMIM:620007 OMIM:619774 OMIM:619780 OMIM:616827 OMIM:613943 OMIM:277380 OMIM:616516 OMIM:151660 OMIM:248370 OMIM:619781 OMIM:268200 OMIM:615112 OMIM:615838 OMIM:618325 OMIM:617243 OMIM:166300 OMIM:616680 OMIM:615280 OMIM:618443 OMIM:613608 OMIM:615486 OMIM:611390 OMIM:618124 OMIM:223100 OMIM:300496 OMIM:312750 OMIM:617282 OMIM:249100 OMIM:608068 OMIM:613862 OMIM:620138 OMIM:609227 OMIM:277950 OMIM:259600 OMIM:603592 OMIM:618145 OMIM:613495 OMIM:616834 OMIM:106600 OMIM:613559 OMIM:619127 OMIM:613426 OMIM:160500 OMIM:608358 OMIM:619868 OMIM:617336 OMIM:618321 OMIM:617186 OMIM:619157 OMIM:305390 OMIM:616116 OMIM:618253 OMIM:618239 OMIM:619170 OMIM:607684 OMIM:607734 OMIM:619099 OMIM:162200 OMIM:614753 OMIM:616576 OMIM:615577 OMIM:605711 OMIM:118700 OMIM:617560 OMIM:300425 OMIM:300495 OMIM:607115 OMIM:191900 OMIM:608553 OMIM:607625 OMIM:600995 OMIM:300200 OMIM:619911 OMIM:117550 OMIM:618242 OMIM:618177 OMIM:271930 OMIM:617831 OMIM:258870 OMIM:300555 OMIM:300424 OMIM:210000 OMIM:125250 OMIM:311250 OMIM:614292 OMIM:191480 OMIM:234200 OMIM:619593 OMIM:613801 OMIM:613582 OMIM:213600 OMIM:170100 OMIM:619063 OMIM:614871 OMIM:614877 OMIM:615802 OMIM:306000 OMIM:261750 OMIM:613027 OMIM:619708 OMIM:619827 OMIM:610293 OMIM:619281 OMIM:616005 OMIM:600977 OMIM:619405 OMIM:263200 OMIM:266200 OMIM:256600 OMIM:610217 OMIM:610725 OMIM:614468 OMIM:616487 OMIM:613723 OMIM:611067 OMIM:618107 OMIM:312920 OMIM:619955 OMIM:212065 OMIM:118300 OMIM:118800 OMIM:614934 OMIM:615973 OMIM:301220 OMIM:616494 OMIM:607694 OMIM:619742 OMIM:614381 OMIM:619743 OMIM:617222 OMIM:618189 OMIM:617711 OMIM:616488 OMIM:194200 OMIM:619636 OMIM:619638 OMIM:612067 OMIM:600072 OMIM:612095 OMIM:600059 OMIM:311070 OMIM:249500 OMIM:614895 OMIM:256040 OMIM:617516 OMIM:616158 OMIM:618342 OMIM:232600 OMIM:617258 OMIM:617751 OMIM:619789 OMIM:615916 OMIM:620102 OMIM:612712 OMIM:610250 OMIM:619652 OMIM:616806 OMIM:610445 OMIM:613731 OMIM:607017 OMIM:250250 OMIM:250460 OMIM:619686 OMIM:619688 OMIM:618357 OMIM:180100 OMIM:312600 OMIM:613794 OMIM:300029 OMIM:613309 OMIM:615909 OMIM:268315 OMIM:612650 OMIM:616732 OMIM:619542 OMIM:255320 OMIM:619041 OMIM:301082 OMIM:604563 OMIM:618195 OMIM:604403 OMIM:617935 OMIM:617938 OMIM:611819 OMIM:603830 OMIM:608567 OMIM:614306 OMIM:619224 OMIM:224100 OMIM:106100 OMIM:619056 OMIM:265900 OMIM:601287 OMIM:253700 OMIM:617575 OMIM:252900 OMIM:308240 OMIM:118400 OMIM:601596 OMIM:613406 OMIM:620068 OMIM:618384 OMIM:616095 OMIM:249270 OMIM:607483 OMIM:212140 OMIM:613710 OMIM:617595 OMIM:265100 OMIM:619881 OMIM:201100 OMIM:619693 OMIM:604278 OMIM:607616 OMIM:300066 OMIM:614561 OMIM:209850 OMIM:616354 OMIM:619375 OMIM:615866 OMIM:275900 OMIM:619615 OMIM:604360 OMIM:613640 OMIM:614162 OMIM:616636 OMIM:615952 OMIM:615234 OMIM:175200 OMIM:308100 OMIM:619714 OMIM:603552 OMIM:613101 OMIM:619040 OMIM:612998 OMIM:612999 OMIM:616040 OMIM:619052 OMIM:204870 OMIM:608105 OMIM:619323 OMIM:617207 OMIM:143400 OMIM:619824 OMIM:610954 OMIM:614021 OMIM:615658 OMIM:188570 OMIM:619908 OMIM:304700 OMIM:613990 OMIM:268130 OMIM:609560 OMIM:607454 OMIM:615066 OMIM:619966 OMIM:601072 OMIM:616744 OMIM:604292 OMIM:614458 OMIM:611878 OMIM:609285 OMIM:619220 OMIM:617731 OMIM:620027 OMIM:617862 OMIM:615441 OMIM:610448 OMIM:617061 OMIM:617598 OMIM:616084 OMIM:606071 OMIM:184252 OMIM:618454 OMIM:615860 OMIM:608807 OMIM:617879 OMIM:619902 OMIM:611093 OMIM:618418 OMIM:142669 OMIM:608898 OMIM:619178 OMIM:608106 OMIM:300676 OMIM:276880 OMIM:619658 OMIM:263400 OMIM:619291 OMIM:614898 OMIM:619389 OMIM:619216 OMIM:619738 OMIM:614377 OMIM:616307 OMIM:604317 OMIM:222300 OMIM:614296 OMIM:257980 OMIM:256370 OMIM:278720 OMIM:619849 OMIM:615444 OMIM:300803 OMIM:619644

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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