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

..Starting node
..Pediatric onset (HP:0410280)

Term ID:

410280

Name:

Pediatric onset

Synonym:

Onset before adulthood; Paediatric onset

Definition:

Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.

Comments:

Reference:

HP:0410280

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0410280	HP:0410280	Pediatric onset	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0410280	HP:0410280	Pediatric onset	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0410280	HP:0410280	Pediatric onset	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0410280	HP:0410280	Pediatric onset	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0410280	HP:0410280	Pediatric onset	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0410280	HP:0410280	Pediatric onset	0	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I		15
HP:0410280	HP:0410280	Pediatric onset	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0410280	HP:0410280	Pediatric onset	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2		146
HP:0410280	HP:0410280	Pediatric onset	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3		111
HP:0410280	HP:0410280	Pediatric onset	0	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0410280	HP:0410280	Pediatric onset	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0410280	HP:0410280	Pediatric onset	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0410280	HP:0410280	Pediatric onset	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0410280	HP:0410280	Pediatric onset	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0410280	HP:0410280	Pediatric onset	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0410280	HP:0410280	Pediatric onset	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0410280	HP:0410280	Pediatric onset	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency		111
HP:0410280	HP:0410280	Pediatric onset	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0410280	HP:0410280	Pediatric onset	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0410280	HP:0410280	Pediatric onset	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0410280	HP:0410280	Pediatric onset	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency		120
HP:0410280	HP:0410280	Pediatric onset	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6		2
HP:0410280	HP:0410280	Pediatric onset	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0410280	HP:0410280	Pediatric onset	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0410280	HP:0410280	Pediatric onset	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0410280	HP:0410280	Pediatric onset	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0410280	HP:0410280	Pediatric onset	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0410280	HP:0410280	Pediatric onset	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects		2
HP:0410280	HP:0410280	Pediatric onset	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0410280	HP:0410280	Pediatric onset	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:0410280	HP:0410280	Pediatric onset	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0410280	HP:0410280	Pediatric onset	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0410280	HP:0410280	Pediatric onset	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0410280	HP:0410280	Pediatric onset	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0410280	HP:0410280	Pediatric onset	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0410280	HP:0410280	Pediatric onset	0	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1		116
HP:0410280	HP:0410280	Pediatric onset	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0410280	HP:0410280	Pediatric onset	0	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0410280	HP:0410280	Pediatric onset	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0410280	HP:0410280	Pediatric onset	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0410280	HP:0410280	Pediatric onset	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0410280	HP:0410280	Pediatric onset	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0410280	HP:0410280	Pediatric onset	0	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4		530
HP:0410280	HP:0410280	Pediatric onset	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0410280	HP:0410280	Pediatric onset	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0410280	HP:0410280	Pediatric onset	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0410280	HP:0410280	Pediatric onset	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0410280	HP:0410280	Pediatric onset	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0410280	HP:0410280	Pediatric onset	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive		86
HP:0410280	HP:0410280	Pediatric onset	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0410280	HP:0410280	Pediatric onset	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0410280	HP:0410280	Pediatric onset	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75		2
HP:0410280	HP:0410280	Pediatric onset	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome		82
HP:0410280	HP:0410280	Pediatric onset	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0410280	HP:0410280	Pediatric onset	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0410280	HP:0410280	Pediatric onset	0	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0410280	HP:0410280	Pediatric onset	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0410280	HP:0410280	Pediatric onset	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0410280	HP:0410280	Pediatric onset	0	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0410280	HP:0410280	Pediatric onset	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0410280	HP:0410280	Pediatric onset	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0410280	HP:0410280	Pediatric onset	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	AKAP9 CL E G H	10142	379	OMIM:611820	Long QT syndrome 11		289
HP:0410280	HP:0410280	Pediatric onset	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0410280	HP:0410280	Pediatric onset	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked		72
HP:0410280	HP:0410280	Pediatric onset	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked		72
HP:0410280	HP:0410280	Pediatric onset	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0410280	HP:0410280	Pediatric onset	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0410280	HP:0410280	Pediatric onset	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0410280	HP:0410280	Pediatric onset	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0410280	HP:0410280	Pediatric onset	0	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0410280	HP:0410280	Pediatric onset	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip		41
HP:0410280	HP:0410280	Pediatric onset	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0410280	HP:0410280	Pediatric onset	0	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0410280	HP:0410280	Pediatric onset	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0410280	HP:0410280	Pediatric onset	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0410280	HP:0410280	Pediatric onset	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0410280	HP:0410280	Pediatric onset	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0410280	HP:0410280	Pediatric onset	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0410280	HP:0410280	Pediatric onset	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0410280	HP:0410280	Pediatric onset	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0410280	HP:0410280	Pediatric onset	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0410280	HP:0410280	Pediatric onset	0	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0410280	HP:0410280	Pediatric onset	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0410280	HP:0410280	Pediatric onset	0	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:0410280	HP:0410280	Pediatric onset	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0410280	HP:0410280	Pediatric onset	0	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0410280	HP:0410280	Pediatric onset	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0410280	HP:0410280	Pediatric onset	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0410280	HP:0410280	Pediatric onset	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8		6
HP:0410280	HP:0410280	Pediatric onset	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0410280	HP:0410280	Pediatric onset	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia		304
HP:0410280	HP:0410280	Pediatric onset	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0410280	HP:0410280	Pediatric onset	0	ANTXR1 CL E G H	84168	21014	OMIM:602089	Hemangioma, capillary infantile		8
HP:0410280	HP:0410280	Pediatric onset	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0410280	HP:0410280	Pediatric onset	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0410280	HP:0410280	Pediatric onset	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0410280	HP:0410280	Pediatric onset	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0410280	HP:0410280	Pediatric onset	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0410280	HP:0410280	Pediatric onset	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0410280	HP:0410280	Pediatric onset	0	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1		1
HP:0410280	HP:0410280	Pediatric onset	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0410280	HP:0410280	Pediatric onset	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0410280	HP:0410280	Pediatric onset	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0410280	HP:0410280	Pediatric onset	0	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0410280	HP:0410280	Pediatric onset	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0410280	HP:0410280	Pediatric onset	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0410280	HP:0410280	Pediatric onset	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0410280	HP:0410280	Pediatric onset	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0410280	HP:0410280	Pediatric onset	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0410280	HP:0410280	Pediatric onset	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0410280	HP:0410280	Pediatric onset	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0410280	HP:0410280	Pediatric onset	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0410280	HP:0410280	Pediatric onset	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0410280	HP:0410280	Pediatric onset	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0410280	HP:0410280	Pediatric onset	0	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38		3
HP:0410280	HP:0410280	Pediatric onset	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0410280	HP:0410280	Pediatric onset	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0410280	HP:0410280	Pediatric onset	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0410280	HP:0410280	Pediatric onset	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0410280	HP:0410280	Pediatric onset	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0410280	HP:0410280	Pediatric onset	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0410280	HP:0410280	Pediatric onset	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0410280	HP:0410280	Pediatric onset	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome		5
HP:0410280	HP:0410280	Pediatric onset	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0410280	HP:0410280	Pediatric onset	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0410280	HP:0410280	Pediatric onset	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0410280	HP:0410280	Pediatric onset	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0410280	HP:0410280	Pediatric onset	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0410280	HP:0410280	Pediatric onset	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0410280	HP:0410280	Pediatric onset	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0410280	HP:0410280	Pediatric onset	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0410280	HP:0410280	Pediatric onset	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0410280	HP:0410280	Pediatric onset	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0410280	HP:0410280	Pediatric onset	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1		239
HP:0410280	HP:0410280	Pediatric onset	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0410280	HP:0410280	Pediatric onset	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0410280	HP:0410280	Pediatric onset	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0410280	HP:0410280	Pediatric onset	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0410280	HP:0410280	Pediatric onset	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0410280	HP:0410280	Pediatric onset	0	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0410280	HP:0410280	Pediatric onset	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0410280	HP:0410280	Pediatric onset	0	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0410280	HP:0410280	Pediatric onset	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1		19
HP:0410280	HP:0410280	Pediatric onset	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0410280	HP:0410280	Pediatric onset	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0410280	HP:0410280	Pediatric onset	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0410280	HP:0410280	Pediatric onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0410280	HP:0410280	Pediatric onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0410280	HP:0410280	Pediatric onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0410280	HP:0410280	Pediatric onset	0	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0410280	HP:0410280	Pediatric onset	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0410280	HP:0410280	Pediatric onset	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0410280	HP:0410280	Pediatric onset	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0410280	HP:0410280	Pediatric onset	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0410280	HP:0410280	Pediatric onset	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3		192
HP:0410280	HP:0410280	Pediatric onset	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0410280	HP:0410280	Pediatric onset	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0410280	HP:0410280	Pediatric onset	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0410280	HP:0410280	Pediatric onset	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0410280	HP:0410280	Pediatric onset	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0410280	HP:0410280	Pediatric onset	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0410280	HP:0410280	Pediatric onset	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0410280	HP:0410280	Pediatric onset	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0410280	HP:0410280	Pediatric onset	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0410280	HP:0410280	Pediatric onset	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0410280	HP:0410280	Pediatric onset	0	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0410280	HP:0410280	Pediatric onset	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome		17
HP:0410280	HP:0410280	Pediatric onset	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome		72
HP:0410280	HP:0410280	Pediatric onset	0	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112		2
HP:0410280	HP:0410280	Pediatric onset	0	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types		15
HP:0410280	HP:0410280	Pediatric onset	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0410280	HP:0410280	Pediatric onset	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0410280	HP:0410280	Pediatric onset	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0410280	HP:0410280	Pediatric onset	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0410280	HP:0410280	Pediatric onset	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0410280	HP:0410280	Pediatric onset	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0410280	HP:0410280	Pediatric onset	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0410280	HP:0410280	Pediatric onset	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0410280	HP:0410280	Pediatric onset	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0410280	HP:0410280	Pediatric onset	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0410280	HP:0410280	Pediatric onset	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0410280	HP:0410280	Pediatric onset	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0410280	HP:0410280	Pediatric onset	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0410280	HP:0410280	Pediatric onset	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0410280	HP:0410280	Pediatric onset	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0410280	HP:0410280	Pediatric onset	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome		13
HP:0410280	HP:0410280	Pediatric onset	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0410280	HP:0410280	Pediatric onset	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0410280	HP:0410280	Pediatric onset	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0410280	HP:0410280	Pediatric onset	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0410280	HP:0410280	Pediatric onset	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0410280	HP:0410280	Pediatric onset	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0410280	HP:0410280	Pediatric onset	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated		4
HP:0410280	HP:0410280	Pediatric onset	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0410280	HP:0410280	Pediatric onset	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0410280	HP:0410280	Pediatric onset	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0410280	HP:0410280	Pediatric onset	0	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0410280	HP:0410280	Pediatric onset	0	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0410280	HP:0410280	Pediatric onset	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay		48
HP:0410280	HP:0410280	Pediatric onset	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0410280	HP:0410280	Pediatric onset	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0410280	HP:0410280	Pediatric onset	0	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10		5
HP:0410280	HP:0410280	Pediatric onset	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50		10
HP:0410280	HP:0410280	Pediatric onset	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0410280	HP:0410280	Pediatric onset	0	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0410280	HP:0410280	Pediatric onset	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0410280	HP:0410280	Pediatric onset	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0410280	HP:0410280	Pediatric onset	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0410280	HP:0410280	Pediatric onset	0	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63		1
HP:0410280	HP:0410280	Pediatric onset	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0410280	HP:0410280	Pediatric onset	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0410280	HP:0410280	Pediatric onset	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0410280	HP:0410280	Pediatric onset	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0410280	HP:0410280	Pediatric onset	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0410280	HP:0410280	Pediatric onset	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0410280	HP:0410280	Pediatric onset	0	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency		45
HP:0410280	HP:0410280	Pediatric onset	0	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0410280	HP:0410280	Pediatric onset	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0410280	HP:0410280	Pediatric onset	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0410280	HP:0410280	Pediatric onset	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0410280	HP:0410280	Pediatric onset	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0410280	HP:0410280	Pediatric onset	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	CASQ2 CL E G H	845	1513	OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2		129
HP:0410280	HP:0410280	Pediatric onset	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0410280	HP:0410280	Pediatric onset	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0410280	HP:0410280	Pediatric onset	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0410280	HP:0410280	Pediatric onset	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0410280	HP:0410280	Pediatric onset	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0410280	HP:0410280	Pediatric onset	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0410280	HP:0410280	Pediatric onset	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0410280	HP:0410280	Pediatric onset	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0410280	HP:0410280	Pediatric onset	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0410280	HP:0410280	Pediatric onset	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0410280	HP:0410280	Pediatric onset	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0410280	HP:0410280	Pediatric onset	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0410280	HP:0410280	Pediatric onset	0	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0410280	HP:0410280	Pediatric onset	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0410280	HP:0410280	Pediatric onset	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0410280	HP:0410280	Pediatric onset	0	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0410280	HP:0410280	Pediatric onset	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0410280	HP:0410280	Pediatric onset	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0410280	HP:0410280	Pediatric onset	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0410280	HP:0410280	Pediatric onset	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19		18
HP:0410280	HP:0410280	Pediatric onset	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18		24
HP:0410280	HP:0410280	Pediatric onset	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0410280	HP:0410280	Pediatric onset	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0410280	HP:0410280	Pediatric onset	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0410280	HP:0410280	Pediatric onset	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0410280	HP:0410280	Pediatric onset	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy		3
HP:0410280	HP:0410280	Pediatric onset	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0410280	HP:0410280	Pediatric onset	0	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0410280	HP:0410280	Pediatric onset	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0410280	HP:0410280	Pediatric onset	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0410280	HP:0410280	Pediatric onset	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0410280	HP:0410280	Pediatric onset	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0410280	HP:0410280	Pediatric onset	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0410280	HP:0410280	Pediatric onset	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0410280	HP:0410280	Pediatric onset	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0410280	HP:0410280	Pediatric onset	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0410280	HP:0410280	Pediatric onset	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0410280	HP:0410280	Pediatric onset	0	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0410280	HP:0410280	Pediatric onset	0	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency		86
HP:0410280	HP:0410280	Pediatric onset	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0410280	HP:0410280	Pediatric onset	0	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0410280	HP:0410280	Pediatric onset	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0410280	HP:0410280	Pediatric onset	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0410280	HP:0410280	Pediatric onset	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0410280	HP:0410280	Pediatric onset	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0410280	HP:0410280	Pediatric onset	0	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome		2
HP:0410280	HP:0410280	Pediatric onset	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0410280	HP:0410280	Pediatric onset	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome		2
HP:0410280	HP:0410280	Pediatric onset	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0410280	HP:0410280	Pediatric onset	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0410280	HP:0410280	Pediatric onset	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0410280	HP:0410280	Pediatric onset	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0410280	HP:0410280	Pediatric onset	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0410280	HP:0410280	Pediatric onset	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0410280	HP:0410280	Pediatric onset	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0410280	HP:0410280	Pediatric onset	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0410280	HP:0410280	Pediatric onset	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0410280	HP:0410280	Pediatric onset	0	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1		225
HP:0410280	HP:0410280	Pediatric onset	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0410280	HP:0410280	Pediatric onset	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel		88
HP:0410280	HP:0410280	Pediatric onset	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel		139
HP:0410280	HP:0410280	Pediatric onset	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0410280	HP:0410280	Pediatric onset	0	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1		129
HP:0410280	HP:0410280	Pediatric onset	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0410280	HP:0410280	Pediatric onset	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0410280	HP:0410280	Pediatric onset	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0410280	HP:0410280	Pediatric onset	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0410280	HP:0410280	Pediatric onset	0	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0410280	HP:0410280	Pediatric onset	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0410280	HP:0410280	Pediatric onset	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0410280	HP:0410280	Pediatric onset	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0410280	HP:0410280	Pediatric onset	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0410280	HP:0410280	Pediatric onset	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0410280	HP:0410280	Pediatric onset	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0410280	HP:0410280	Pediatric onset	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0410280	HP:0410280	Pediatric onset	0	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103		1
HP:0410280	HP:0410280	Pediatric onset	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0410280	HP:0410280	Pediatric onset	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0410280	HP:0410280	Pediatric onset	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0410280	HP:0410280	Pediatric onset	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0410280	HP:0410280	Pediatric onset	0	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0410280	HP:0410280	Pediatric onset	0	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2
HP:0410280	HP:0410280	Pediatric onset	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA		60
HP:0410280	HP:0410280	Pediatric onset	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0410280	HP:0410280	Pediatric onset	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0410280	HP:0410280	Pediatric onset	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0410280	HP:0410280	Pediatric onset	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0410280	HP:0410280	Pediatric onset	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0410280	HP:0410280	Pediatric onset	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0410280	HP:0410280	Pediatric onset	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0410280	HP:0410280	Pediatric onset	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq		2
HP:0410280	HP:0410280	Pediatric onset	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0410280	HP:0410280	Pediatric onset	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0410280	HP:0410280	Pediatric onset	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0410280	HP:0410280	Pediatric onset	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0410280	HP:0410280	Pediatric onset	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0410280	HP:0410280	Pediatric onset	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0410280	HP:0410280	Pediatric onset	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0410280	HP:0410280	Pediatric onset	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0410280	HP:0410280	Pediatric onset	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0410280	HP:0410280	Pediatric onset	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0410280	HP:0410280	Pediatric onset	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0410280	HP:0410280	Pediatric onset	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0410280	HP:0410280	Pediatric onset	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0410280	HP:0410280	Pediatric onset	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0410280	HP:0410280	Pediatric onset	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0410280	HP:0410280	Pediatric onset	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5		90
HP:0410280	HP:0410280	Pediatric onset	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0410280	HP:0410280	Pediatric onset	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0410280	HP:0410280	Pediatric onset	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0410280	HP:0410280	Pediatric onset	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0410280	HP:0410280	Pediatric onset	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6		39
HP:0410280	HP:0410280	Pediatric onset	0	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8		7
HP:0410280	HP:0410280	Pediatric onset	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0410280	HP:0410280	Pediatric onset	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0410280	HP:0410280	Pediatric onset	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis		13
HP:0410280	HP:0410280	Pediatric onset	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0410280	HP:0410280	Pediatric onset	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0410280	HP:0410280	Pediatric onset	0	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5		49
HP:0410280	HP:0410280	Pediatric onset	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0410280	HP:0410280	Pediatric onset	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63		1
HP:0410280	HP:0410280	Pediatric onset	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0410280	HP:0410280	Pediatric onset	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0410280	HP:0410280	Pediatric onset	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced		101
HP:0410280	HP:0410280	Pediatric onset	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0410280	HP:0410280	Pediatric onset	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0410280	HP:0410280	Pediatric onset	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12		156
HP:0410280	HP:0410280	Pediatric onset	0	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9		12
HP:0410280	HP:0410280	Pediatric onset	0	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0410280	HP:0410280	Pediatric onset	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0410280	HP:0410280	Pediatric onset	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7		158
HP:0410280	HP:0410280	Pediatric onset	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0410280	HP:0410280	Pediatric onset	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0410280	HP:0410280	Pediatric onset	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0410280	HP:0410280	Pediatric onset	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0410280	HP:0410280	Pediatric onset	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0410280	HP:0410280	Pediatric onset	0	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7		88
HP:0410280	HP:0410280	Pediatric onset	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0410280	HP:0410280	Pediatric onset	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0410280	HP:0410280	Pediatric onset	0	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0410280	HP:0410280	Pediatric onset	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type		178
HP:0410280	HP:0410280	Pediatric onset	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0410280	HP:0410280	Pediatric onset	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0410280	HP:0410280	Pediatric onset	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0410280	HP:0410280	Pediatric onset	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0410280	HP:0410280	Pediatric onset	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67
HP:0410280	HP:0410280	Pediatric onset	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0410280	HP:0410280	Pediatric onset	0	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0410280	HP:0410280	Pediatric onset	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0410280	HP:0410280	Pediatric onset	0	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0410280	HP:0410280	Pediatric onset	0	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia		2
HP:0410280	HP:0410280	Pediatric onset	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0410280	HP:0410280	Pediatric onset	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0410280	HP:0410280	Pediatric onset	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0410280	HP:0410280	Pediatric onset	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism		112
HP:0410280	HP:0410280	Pediatric onset	0	CYP1B1 CL E G H	1545	2597	OMIM:231300	Glaucoma 3, primary congenital, A		101
HP:0410280	HP:0410280	Pediatric onset	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0410280	HP:0410280	Pediatric onset	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0410280	HP:0410280	Pediatric onset	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0410280	HP:0410280	Pediatric onset	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0410280	HP:0410280	Pediatric onset	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0410280	HP:0410280	Pediatric onset	0	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0410280	HP:0410280	Pediatric onset	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0410280	HP:0410280	Pediatric onset	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0410280	HP:0410280	Pediatric onset	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0410280	HP:0410280	Pediatric onset	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0410280	HP:0410280	Pediatric onset	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0410280	HP:0410280	Pediatric onset	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0410280	HP:0410280	Pediatric onset	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0410280	HP:0410280	Pediatric onset	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1		145
HP:0410280	HP:0410280	Pediatric onset	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0410280	HP:0410280	Pediatric onset	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0410280	HP:0410280	Pediatric onset	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0410280	HP:0410280	Pediatric onset	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0410280	HP:0410280	Pediatric onset	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR		62
HP:0410280	HP:0410280	Pediatric onset	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0410280	HP:0410280	Pediatric onset	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder		33
HP:0410280	HP:0410280	Pediatric onset	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0410280	HP:0410280	Pediatric onset	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0410280	HP:0410280	Pediatric onset	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0410280	HP:0410280	Pediatric onset	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0410280	HP:0410280	Pediatric onset	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0410280	HP:0410280	Pediatric onset	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language		4
HP:0410280	HP:0410280	Pediatric onset	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0410280	HP:0410280	Pediatric onset	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0410280	HP:0410280	Pediatric onset	0	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type		4
HP:0410280	HP:0410280	Pediatric onset	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0410280	HP:0410280	Pediatric onset	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0410280	HP:0410280	Pediatric onset	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0410280	HP:0410280	Pediatric onset	0	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0410280	HP:0410280	Pediatric onset	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0410280	HP:0410280	Pediatric onset	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25		27
HP:0410280	HP:0410280	Pediatric onset	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0410280	HP:0410280	Pediatric onset	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0410280	HP:0410280	Pediatric onset	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0410280	HP:0410280	Pediatric onset	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0410280	HP:0410280	Pediatric onset	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0410280	HP:0410280	Pediatric onset	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0410280	HP:0410280	Pediatric onset	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0410280	HP:0410280	Pediatric onset	0	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0410280	HP:0410280	Pediatric onset	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B		167
HP:0410280	HP:0410280	Pediatric onset	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0410280	HP:0410280	Pediatric onset	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0410280	HP:0410280	Pediatric onset	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0410280	HP:0410280	Pediatric onset	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23		11
HP:0410280	HP:0410280	Pediatric onset	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0410280	HP:0410280	Pediatric onset	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0410280	HP:0410280	Pediatric onset	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0410280	HP:0410280	Pediatric onset	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0410280	HP:0410280	Pediatric onset	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0410280	HP:0410280	Pediatric onset	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0410280	HP:0410280	Pediatric onset	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0410280	HP:0410280	Pediatric onset	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0410280	HP:0410280	Pediatric onset	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0410280	HP:0410280	Pediatric onset	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0410280	HP:0410280	Pediatric onset	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0410280	HP:0410280	Pediatric onset	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0410280	HP:0410280	Pediatric onset	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0410280	HP:0410280	Pediatric onset	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0410280	HP:0410280	Pediatric onset	0	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2		108
HP:0410280	HP:0410280	Pediatric onset	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0410280	HP:0410280	Pediatric onset	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0410280	HP:0410280	Pediatric onset	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0410280	HP:0410280	Pediatric onset	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0410280	HP:0410280	Pediatric onset	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0410280	HP:0410280	Pediatric onset	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0410280	HP:0410280	Pediatric onset	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0410280	HP:0410280	Pediatric onset	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0410280	HP:0410280	Pediatric onset	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0410280	HP:0410280	Pediatric onset	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0410280	HP:0410280	Pediatric onset	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0410280	HP:0410280	Pediatric onset	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0410280	HP:0410280	Pediatric onset	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0410280	HP:0410280	Pediatric onset	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0410280	HP:0410280	Pediatric onset	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0410280	HP:0410280	Pediatric onset	0	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50		1
HP:0410280	HP:0410280	Pediatric onset	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0410280	HP:0410280	Pediatric onset	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33		60
HP:0410280	HP:0410280	Pediatric onset	0	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence		153
HP:0410280	HP:0410280	Pediatric onset	0	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1		153
HP:0410280	HP:0410280	Pediatric onset	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0410280	HP:0410280	Pediatric onset	0	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D		58
HP:0410280	HP:0410280	Pediatric onset	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0410280	HP:0410280	Pediatric onset	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3		2
HP:0410280	HP:0410280	Pediatric onset	0	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0410280	HP:0410280	Pediatric onset	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0410280	HP:0410280	Pediatric onset	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0410280	HP:0410280	Pediatric onset	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0410280	HP:0410280	Pediatric onset	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0410280	HP:0410280	Pediatric onset	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter		42
HP:0410280	HP:0410280	Pediatric onset	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter		24
HP:0410280	HP:0410280	Pediatric onset	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter		32
HP:0410280	HP:0410280	Pediatric onset	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter		38
HP:0410280	HP:0410280	Pediatric onset	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter		48
HP:0410280	HP:0410280	Pediatric onset	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0410280	HP:0410280	Pediatric onset	0	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0410280	HP:0410280	Pediatric onset	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0410280	HP:0410280	Pediatric onset	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0410280	HP:0410280	Pediatric onset	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0410280	HP:0410280	Pediatric onset	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0410280	HP:0410280	Pediatric onset	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0410280	HP:0410280	Pediatric onset	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0410280	HP:0410280	Pediatric onset	0	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0410280	HP:0410280	Pediatric onset	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0410280	HP:0410280	Pediatric onset	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0410280	HP:0410280	Pediatric onset	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0410280	HP:0410280	Pediatric onset	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0410280	HP:0410280	Pediatric onset	0	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2		3
HP:0410280	HP:0410280	Pediatric onset	0	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL		1
HP:0410280	HP:0410280	Pediatric onset	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0410280	HP:0410280	Pediatric onset	0	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0410280	HP:0410280	Pediatric onset	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0410280	HP:0410280	Pediatric onset	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0410280	HP:0410280	Pediatric onset	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0410280	HP:0410280	Pediatric onset	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0410280	HP:0410280	Pediatric onset	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0410280	HP:0410280	Pediatric onset	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0410280	HP:0410280	Pediatric onset	0	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1		199
HP:0410280	HP:0410280	Pediatric onset	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0410280	HP:0410280	Pediatric onset	0	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2		55
HP:0410280	HP:0410280	Pediatric onset	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0410280	HP:0410280	Pediatric onset	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0410280	HP:0410280	Pediatric onset	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0410280	HP:0410280	Pediatric onset	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0410280	HP:0410280	Pediatric onset	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0410280	HP:0410280	Pediatric onset	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0410280	HP:0410280	Pediatric onset	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I		96
HP:0410280	HP:0410280	Pediatric onset	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0410280	HP:0410280	Pediatric onset	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome		102
HP:0410280	HP:0410280	Pediatric onset	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0410280	HP:0410280	Pediatric onset	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0410280	HP:0410280	Pediatric onset	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0410280	HP:0410280	Pediatric onset	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0410280	HP:0410280	Pediatric onset	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0410280	HP:0410280	Pediatric onset	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0410280	HP:0410280	Pediatric onset	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0410280	HP:0410280	Pediatric onset	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0410280	HP:0410280	Pediatric onset	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0410280	HP:0410280	Pediatric onset	0	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0410280	HP:0410280	Pediatric onset	0	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0410280	HP:0410280	Pediatric onset	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0410280	HP:0410280	Pediatric onset	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0410280	HP:0410280	Pediatric onset	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0410280	HP:0410280	Pediatric onset	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0410280	HP:0410280	Pediatric onset	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0410280	HP:0410280	Pediatric onset	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0410280	HP:0410280	Pediatric onset	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0410280	HP:0410280	Pediatric onset	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1		145
HP:0410280	HP:0410280	Pediatric onset	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0410280	HP:0410280	Pediatric onset	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0410280	HP:0410280	Pediatric onset	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0410280	HP:0410280	Pediatric onset	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0410280	HP:0410280	Pediatric onset	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0410280	HP:0410280	Pediatric onset	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0410280	HP:0410280	Pediatric onset	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0410280	HP:0410280	Pediatric onset	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0410280	HP:0410280	Pediatric onset	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0410280	HP:0410280	Pediatric onset	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0410280	HP:0410280	Pediatric onset	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0410280	HP:0410280	Pediatric onset	0	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4		184
HP:0410280	HP:0410280	Pediatric onset	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4		184
HP:0410280	HP:0410280	Pediatric onset	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0410280	HP:0410280	Pediatric onset	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		493
HP:0410280	HP:0410280	Pediatric onset	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0410280	HP:0410280	Pediatric onset	0	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia		4
HP:0410280	HP:0410280	Pediatric onset	0	FLT4 CL E G H	2324	3767	OMIM:602089	Hemangioma, capillary infantile		90
HP:0410280	HP:0410280	Pediatric onset	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0410280	HP:0410280	Pediatric onset	0	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47		44
HP:0410280	HP:0410280	Pediatric onset	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0410280	HP:0410280	Pediatric onset	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0410280	HP:0410280	Pediatric onset	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0410280	HP:0410280	Pediatric onset	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0410280	HP:0410280	Pediatric onset	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0410280	HP:0410280	Pediatric onset	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2		23
HP:0410280	HP:0410280	Pediatric onset	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0410280	HP:0410280	Pediatric onset	0	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1		143
HP:0410280	HP:0410280	Pediatric onset	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0410280	HP:0410280	Pediatric onset	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0410280	HP:0410280	Pediatric onset	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0410280	HP:0410280	Pediatric onset	0	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked		38
HP:0410280	HP:0410280	Pediatric onset	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0410280	HP:0410280	Pediatric onset	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0410280	HP:0410280	Pediatric onset	0	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1		50
HP:0410280	HP:0410280	Pediatric onset	0	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0410280	HP:0410280	Pediatric onset	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0410280	HP:0410280	Pediatric onset	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0410280	HP:0410280	Pediatric onset	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0410280	HP:0410280	Pediatric onset	0	FYCO1 CL E G H	79443	14673	OMIM:610019	Cataract, autosomal recessive congenital 2		140
HP:0410280	HP:0410280	Pediatric onset	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0410280	HP:0410280	Pediatric onset	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0410280	HP:0410280	Pediatric onset	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0410280	HP:0410280	Pediatric onset	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0410280	HP:0410280	Pediatric onset	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19		134
HP:0410280	HP:0410280	Pediatric onset	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45		3
HP:0410280	HP:0410280	Pediatric onset	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43		57
HP:0410280	HP:0410280	Pediatric onset	0	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74		139
HP:0410280	HP:0410280	Pediatric onset	0	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8		139
HP:0410280	HP:0410280	Pediatric onset	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0410280	HP:0410280	Pediatric onset	0	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0410280	HP:0410280	Pediatric onset	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0410280	HP:0410280	Pediatric onset	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency		52
HP:0410280	HP:0410280	Pediatric onset	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0410280	HP:0410280	Pediatric onset	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1		46
HP:0410280	HP:0410280	Pediatric onset	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0410280	HP:0410280	Pediatric onset	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0410280	HP:0410280	Pediatric onset	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0410280	HP:0410280	Pediatric onset	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0410280	HP:0410280	Pediatric onset	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities		29
HP:0410280	HP:0410280	Pediatric onset	0	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia		29
HP:0410280	HP:0410280	Pediatric onset	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0410280	HP:0410280	Pediatric onset	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3		86
HP:0410280	HP:0410280	Pediatric onset	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0410280	HP:0410280	Pediatric onset	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0410280	HP:0410280	Pediatric onset	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0410280	HP:0410280	Pediatric onset	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0410280	HP:0410280	Pediatric onset	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0410280	HP:0410280	Pediatric onset	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B		86
HP:0410280	HP:0410280	Pediatric onset	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0410280	HP:0410280	Pediatric onset	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0410280	HP:0410280	Pediatric onset	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0410280	HP:0410280	Pediatric onset	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A		108
HP:0410280	HP:0410280	Pediatric onset	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0410280	HP:0410280	Pediatric onset	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0410280	HP:0410280	Pediatric onset	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0410280	HP:0410280	Pediatric onset	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0410280	HP:0410280	Pediatric onset	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0410280	HP:0410280	Pediatric onset	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0410280	HP:0410280	Pediatric onset	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0410280	HP:0410280	Pediatric onset	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0410280	HP:0410280	Pediatric onset	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0410280	HP:0410280	Pediatric onset	0	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome		98
HP:0410280	HP:0410280	Pediatric onset	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0410280	HP:0410280	Pediatric onset	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0410280	HP:0410280	Pediatric onset	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0410280	HP:0410280	Pediatric onset	0	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1		74
HP:0410280	HP:0410280	Pediatric onset	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0410280	HP:0410280	Pediatric onset	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0410280	HP:0410280	Pediatric onset	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0410280	HP:0410280	Pediatric onset	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0410280	HP:0410280	Pediatric onset	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)		120
HP:0410280	HP:0410280	Pediatric onset	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1		63
HP:0410280	HP:0410280	Pediatric onset	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0410280	HP:0410280	Pediatric onset	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0410280	HP:0410280	Pediatric onset	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0410280	HP:0410280	Pediatric onset	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0410280	HP:0410280	Pediatric onset	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0410280	HP:0410280	Pediatric onset	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0410280	HP:0410280	Pediatric onset	0	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25		13
HP:0410280	HP:0410280	Pediatric onset	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive		101
HP:0410280	HP:0410280	Pediatric onset	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0410280	HP:0410280	Pediatric onset	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0410280	HP:0410280	Pediatric onset	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0410280	HP:0410280	Pediatric onset	0	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0410280	HP:0410280	Pediatric onset	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		7
HP:0410280	HP:0410280	Pediatric onset	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0410280	HP:0410280	Pediatric onset	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0410280	HP:0410280	Pediatric onset	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0410280	HP:0410280	Pediatric onset	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0410280	HP:0410280	Pediatric onset	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0410280	HP:0410280	Pediatric onset	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0410280	HP:0410280	Pediatric onset	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11		24
HP:0410280	HP:0410280	Pediatric onset	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0410280	HP:0410280	Pediatric onset	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile		3
HP:0410280	HP:0410280	Pediatric onset	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1		18
HP:0410280	HP:0410280	Pediatric onset	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0410280	HP:0410280	Pediatric onset	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0410280	HP:0410280	Pediatric onset	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0410280	HP:0410280	Pediatric onset	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0410280	HP:0410280	Pediatric onset	0	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0410280	HP:0410280	Pediatric onset	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0410280	HP:0410280	Pediatric onset	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0410280	HP:0410280	Pediatric onset	0	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6		32
HP:0410280	HP:0410280	Pediatric onset	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant		108
HP:0410280	HP:0410280	Pediatric onset	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0410280	HP:0410280	Pediatric onset	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0410280	HP:0410280	Pediatric onset	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46		2
HP:0410280	HP:0410280	Pediatric onset	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0410280	HP:0410280	Pediatric onset	0	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101		3
HP:0410280	HP:0410280	Pediatric onset	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0410280	HP:0410280	Pediatric onset	0	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6		12
HP:0410280	HP:0410280	Pediatric onset	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0410280	HP:0410280	Pediatric onset	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0410280	HP:0410280	Pediatric onset	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0410280	HP:0410280	Pediatric onset	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0410280	HP:0410280	Pediatric onset	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0410280	HP:0410280	Pediatric onset	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0410280	HP:0410280	Pediatric onset	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0410280	HP:0410280	Pediatric onset	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0410280	HP:0410280	Pediatric onset	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0410280	HP:0410280	Pediatric onset	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0410280	HP:0410280	Pediatric onset	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0410280	HP:0410280	Pediatric onset	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0410280	HP:0410280	Pediatric onset	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0410280	HP:0410280	Pediatric onset	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type		100
HP:0410280	HP:0410280	Pediatric onset	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24		54
HP:0410280	HP:0410280	Pediatric onset	0	HCN2 CL E G H	610	4846	OMIM:602477	Febrile seizures, familial, 2		7
HP:0410280	HP:0410280	Pediatric onset	0	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18		185
HP:0410280	HP:0410280	Pediatric onset	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0410280	HP:0410280	Pediatric onset	0	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1		1
HP:0410280	HP:0410280	Pediatric onset	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0410280	HP:0410280	Pediatric onset	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1		82
HP:0410280	HP:0410280	Pediatric onset	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0410280	HP:0410280	Pediatric onset	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0410280	HP:0410280	Pediatric onset	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0410280	HP:0410280	Pediatric onset	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0410280	HP:0410280	Pediatric onset	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0410280	HP:0410280	Pediatric onset	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency		32
HP:0410280	HP:0410280	Pediatric onset	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0410280	HP:0410280	Pediatric onset	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13		3
HP:0410280	HP:0410280	Pediatric onset	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0410280	HP:0410280	Pediatric onset	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0410280	HP:0410280	Pediatric onset	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0410280	HP:0410280	Pediatric onset	0	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III		161
HP:0410280	HP:0410280	Pediatric onset	0	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51		3
HP:0410280	HP:0410280	Pediatric onset	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0410280	HP:0410280	Pediatric onset	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54		39
HP:0410280	HP:0410280	Pediatric onset	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive		4
HP:0410280	HP:0410280	Pediatric onset	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0410280	HP:0410280	Pediatric onset	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0410280	HP:0410280	Pediatric onset	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0410280	HP:0410280	Pediatric onset	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0410280	HP:0410280	Pediatric onset	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0410280	HP:0410280	Pediatric onset	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0410280	HP:0410280	Pediatric onset	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2		5
HP:0410280	HP:0410280	Pediatric onset	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess		14
HP:0410280	HP:0410280	Pediatric onset	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0410280	HP:0410280	Pediatric onset	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0410280	HP:0410280	Pediatric onset	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0410280	HP:0410280	Pediatric onset	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0410280	HP:0410280	Pediatric onset	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0410280	HP:0410280	Pediatric onset	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0410280	HP:0410280	Pediatric onset	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0410280	HP:0410280	Pediatric onset	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0410280	HP:0410280	Pediatric onset	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0410280	HP:0410280	Pediatric onset	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0410280	HP:0410280	Pediatric onset	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0410280	HP:0410280	Pediatric onset	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0410280	HP:0410280	Pediatric onset	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0410280	HP:0410280	Pediatric onset	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0410280	HP:0410280	Pediatric onset	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0410280	HP:0410280	Pediatric onset	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0410280	HP:0410280	Pediatric onset	0	IFNAR1 CL E G H	3454	5432	OMIM:619935
HP:0410280	HP:0410280	Pediatric onset	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0410280	HP:0410280	Pediatric onset	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0410280	HP:0410280	Pediatric onset	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0410280	HP:0410280	Pediatric onset	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0410280	HP:0410280	Pediatric onset	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0410280	HP:0410280	Pediatric onset	0	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15		4
HP:0410280	HP:0410280	Pediatric onset	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0410280	HP:0410280	Pediatric onset	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0410280	HP:0410280	Pediatric onset	0	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0410280	HP:0410280	Pediatric onset	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0410280	HP:0410280	Pediatric onset	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0410280	HP:0410280	Pediatric onset	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0410280	HP:0410280	Pediatric onset	0	IL12B CL E G H	3593	5970	OMIM:614890	Immunodeficiency 29		31
HP:0410280	HP:0410280	Pediatric onset	0	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0410280	HP:0410280	Pediatric onset	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0410280	HP:0410280	Pediatric onset	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0410280	HP:0410280	Pediatric onset	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0410280	HP:0410280	Pediatric onset	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0410280	HP:0410280	Pediatric onset	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0410280	HP:0410280	Pediatric onset	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0410280	HP:0410280	Pediatric onset	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0410280	HP:0410280	Pediatric onset	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0410280	HP:0410280	Pediatric onset	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0410280	HP:0410280	Pediatric onset	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0410280	HP:0410280	Pediatric onset	0	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42		42
HP:0410280	HP:0410280	Pediatric onset	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0410280	HP:0410280	Pediatric onset	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0410280	HP:0410280	Pediatric onset	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0410280	HP:0410280	Pediatric onset	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0410280	HP:0410280	Pediatric onset	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0410280	HP:0410280	Pediatric onset	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0410280	HP:0410280	Pediatric onset	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0410280	HP:0410280	Pediatric onset	0	IRF7 CL E G H	3665	6122	OMIM:616345	Immunodeficiency 39		2
HP:0410280	HP:0410280	Pediatric onset	0	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A		5
HP:0410280	HP:0410280	Pediatric onset	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0410280	HP:0410280	Pediatric onset	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5		1
HP:0410280	HP:0410280	Pediatric onset	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0410280	HP:0410280	Pediatric onset	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0410280	HP:0410280	Pediatric onset	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency		127
HP:0410280	HP:0410280	Pediatric onset	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0410280	HP:0410280	Pediatric onset	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0410280	HP:0410280	Pediatric onset	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0410280	HP:0410280	Pediatric onset	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15		177
HP:0410280	HP:0410280	Pediatric onset	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0410280	HP:0410280	Pediatric onset	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0410280	HP:0410280	Pediatric onset	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0410280	HP:0410280	Pediatric onset	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0410280	HP:0410280	Pediatric onset	0	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0410280	HP:0410280	Pediatric onset	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0410280	HP:0410280	Pediatric onset	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0410280	HP:0410280	Pediatric onset	0	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16		1
HP:0410280	HP:0410280	Pediatric onset	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0410280	HP:0410280	Pediatric onset	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1		145
HP:0410280	HP:0410280	Pediatric onset	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32		13
HP:0410280	HP:0410280	Pediatric onset	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0410280	HP:0410280	Pediatric onset	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0410280	HP:0410280	Pediatric onset	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0410280	HP:0410280	Pediatric onset	0	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0410280	HP:0410280	Pediatric onset	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0410280	HP:0410280	Pediatric onset	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0410280	HP:0410280	Pediatric onset	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0410280	HP:0410280	Pediatric onset	0	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures		114
HP:0410280	HP:0410280	Pediatric onset	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0410280	HP:0410280	Pediatric onset	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0410280	HP:0410280	Pediatric onset	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0410280	HP:0410280	Pediatric onset	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0410280	HP:0410280	Pediatric onset	0	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1		730
HP:0410280	HP:0410280	Pediatric onset	0	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7		528
HP:0410280	HP:0410280	Pediatric onset	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46		5
HP:0410280	HP:0410280	Pediatric onset	0	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5		321
HP:0410280	HP:0410280	Pediatric onset	0	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57		1
HP:0410280	HP:0410280	Pediatric onset	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0410280	HP:0410280	Pediatric onset	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0410280	HP:0410280	Pediatric onset	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0410280	HP:0410280	Pediatric onset	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0410280	HP:0410280	Pediatric onset	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0410280	HP:0410280	Pediatric onset	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0410280	HP:0410280	Pediatric onset	0	KDR CL E G H	3791	6307	OMIM:602089	Hemangioma, capillary infantile		40
HP:0410280	HP:0410280	Pediatric onset	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2		8
HP:0410280	HP:0410280	Pediatric onset	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0410280	HP:0410280	Pediatric onset	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0410280	HP:0410280	Pediatric onset	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0410280	HP:0410280	Pediatric onset	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0410280	HP:0410280	Pediatric onset	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0410280	HP:0410280	Pediatric onset	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0410280	HP:0410280	Pediatric onset	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0410280	HP:0410280	Pediatric onset	0	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0410280	HP:0410280	Pediatric onset	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0410280	HP:0410280	Pediatric onset	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0410280	HP:0410280	Pediatric onset	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3		42
HP:0410280	HP:0410280	Pediatric onset	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0410280	HP:0410280	Pediatric onset	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome		1
HP:0410280	HP:0410280	Pediatric onset	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0410280	HP:0410280	Pediatric onset	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0410280	HP:0410280	Pediatric onset	0	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0410280	HP:0410280	Pediatric onset	0	KRT14 CL E G H	3861	6416	OMIM:601001	Epidermolysis bullosa simplex, autosomal recessive 1		110
HP:0410280	HP:0410280	Pediatric onset	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0410280	HP:0410280	Pediatric onset	0	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0410280	HP:0410280	Pediatric onset	0	KRT14 CL E G H	3861	6416	OMIM:131800	Epidermolysis bullosa simplex, Weber-Cockayne type		110
HP:0410280	HP:0410280	Pediatric onset	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0410280	HP:0410280	Pediatric onset	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0410280	HP:0410280	Pediatric onset	0	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3		5
HP:0410280	HP:0410280	Pediatric onset	0	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX		3
HP:0410280	HP:0410280	Pediatric onset	0	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX		65
HP:0410280	HP:0410280	Pediatric onset	0	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX		10
HP:0410280	HP:0410280	Pediatric onset	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0410280	HP:0410280	Pediatric onset	0	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0410280	HP:0410280	Pediatric onset	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0410280	HP:0410280	Pediatric onset	0	LAMA5 CL E G H	3911	6485	OMIM:620049			5
HP:0410280	HP:0410280	Pediatric onset	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0410280	HP:0410280	Pediatric onset	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5		70
HP:0410280	HP:0410280	Pediatric onset	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22		1
HP:0410280	HP:0410280	Pediatric onset	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI		35
HP:0410280	HP:0410280	Pediatric onset	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0410280	HP:0410280	Pediatric onset	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency		46
HP:0410280	HP:0410280	Pediatric onset	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0410280	HP:0410280	Pediatric onset	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0410280	HP:0410280	Pediatric onset	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0410280	HP:0410280	Pediatric onset	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0410280	HP:0410280	Pediatric onset	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0410280	HP:0410280	Pediatric onset	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0410280	HP:0410280	Pediatric onset	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0410280	HP:0410280	Pediatric onset	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27		25
HP:0410280	HP:0410280	Pediatric onset	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0410280	HP:0410280	Pediatric onset	0	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8		1
HP:0410280	HP:0410280	Pediatric onset	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0410280	HP:0410280	Pediatric onset	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0410280	HP:0410280	Pediatric onset	0	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0410280	HP:0410280	Pediatric onset	0	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52		1
HP:0410280	HP:0410280	Pediatric onset	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0410280	HP:0410280	Pediatric onset	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0410280	HP:0410280	Pediatric onset	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0410280	HP:0410280	Pediatric onset	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0410280	HP:0410280	Pediatric onset	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0410280	HP:0410280	Pediatric onset	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0410280	HP:0410280	Pediatric onset	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0410280	HP:0410280	Pediatric onset	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0410280	HP:0410280	Pediatric onset	0	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28		4
HP:0410280	HP:0410280	Pediatric onset	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0410280	HP:0410280	Pediatric onset	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0410280	HP:0410280	Pediatric onset	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0410280	HP:0410280	Pediatric onset	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0410280	HP:0410280	Pediatric onset	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4		125
HP:0410280	HP:0410280	Pediatric onset	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0410280	HP:0410280	Pediatric onset	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia		1
HP:0410280	HP:0410280	Pediatric onset	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0410280	HP:0410280	Pediatric onset	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0410280	HP:0410280	Pediatric onset	0	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0410280	HP:0410280	Pediatric onset	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0410280	HP:0410280	Pediatric onset	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0410280	HP:0410280	Pediatric onset	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0410280	HP:0410280	Pediatric onset	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0410280	HP:0410280	Pediatric onset	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0410280	HP:0410280	Pediatric onset	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0410280	HP:0410280	Pediatric onset	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0410280	HP:0410280	Pediatric onset	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0410280	HP:0410280	Pediatric onset	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0410280	HP:0410280	Pediatric onset	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0410280	HP:0410280	Pediatric onset	0	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0410280	HP:0410280	Pediatric onset	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0410280	HP:0410280	Pediatric onset	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0410280	HP:0410280	Pediatric onset	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3
HP:0410280	HP:0410280	Pediatric onset	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0410280	HP:0410280	Pediatric onset	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0410280	HP:0410280	Pediatric onset	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0410280	HP:0410280	Pediatric onset	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations		1
HP:0410280	HP:0410280	Pediatric onset	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0410280	HP:0410280	Pediatric onset	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0410280	HP:0410280	Pediatric onset	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0410280	HP:0410280	Pediatric onset	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57		5
HP:0410280	HP:0410280	Pediatric onset	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0410280	HP:0410280	Pediatric onset	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0410280	HP:0410280	Pediatric onset	0	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0410280	HP:0410280	Pediatric onset	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0410280	HP:0410280	Pediatric onset	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0410280	HP:0410280	Pediatric onset	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0410280	HP:0410280	Pediatric onset	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0410280	HP:0410280	Pediatric onset	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0410280	HP:0410280	Pediatric onset	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3		950
HP:0410280	HP:0410280	Pediatric onset	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0410280	HP:0410280	Pediatric onset	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0410280	HP:0410280	Pediatric onset	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0410280	HP:0410280	Pediatric onset	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0410280	HP:0410280	Pediatric onset	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0410280	HP:0410280	Pediatric onset	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0410280	HP:0410280	Pediatric onset	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0410280	HP:0410280	Pediatric onset	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0410280	HP:0410280	Pediatric onset	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0410280	HP:0410280	Pediatric onset	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38		75
HP:0410280	HP:0410280	Pediatric onset	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0410280	HP:0410280	Pediatric onset	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2		17
HP:0410280	HP:0410280	Pediatric onset	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0410280	HP:0410280	Pediatric onset	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7		120
HP:0410280	HP:0410280	Pediatric onset	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0410280	HP:0410280	Pediatric onset	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0410280	HP:0410280	Pediatric onset	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0410280	HP:0410280	Pediatric onset	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0410280	HP:0410280	Pediatric onset	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0410280	HP:0410280	Pediatric onset	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0410280	HP:0410280	Pediatric onset	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31		7
HP:0410280	HP:0410280	Pediatric onset	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1		112
HP:0410280	HP:0410280	Pediatric onset	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0410280	HP:0410280	Pediatric onset	0	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3		7
HP:0410280	HP:0410280	Pediatric onset	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0410280	HP:0410280	Pediatric onset	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0410280	HP:0410280	Pediatric onset	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0410280	HP:0410280	Pediatric onset	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0410280	HP:0410280	Pediatric onset	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0410280	HP:0410280	Pediatric onset	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0410280	HP:0410280	Pediatric onset	0	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0410280	HP:0410280	Pediatric onset	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0410280	HP:0410280	Pediatric onset	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0410280	HP:0410280	Pediatric onset	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0410280	HP:0410280	Pediatric onset	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0410280	HP:0410280	Pediatric onset	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0410280	HP:0410280	Pediatric onset	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0410280	HP:0410280	Pediatric onset	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0410280	HP:0410280	Pediatric onset	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0410280	HP:0410280	Pediatric onset	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0410280	HP:0410280	Pediatric onset	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0410280	HP:0410280	Pediatric onset	0	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0410280	HP:0410280	Pediatric onset	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0410280	HP:0410280	Pediatric onset	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0410280	HP:0410280	Pediatric onset	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0410280	HP:0410280	Pediatric onset	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0410280	HP:0410280	Pediatric onset	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0410280	HP:0410280	Pediatric onset	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34		12
HP:0410280	HP:0410280	Pediatric onset	0	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0410280	HP:0410280	Pediatric onset	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0410280	HP:0410280	Pediatric onset	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0410280	HP:0410280	Pediatric onset	0	MSX1 CL E G H	4487	7391	OMIM:106600	Tooth agenesis, selective, 1		12
HP:0410280	HP:0410280	Pediatric onset	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0410280	HP:0410280	Pediatric onset	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0410280	HP:0410280	Pediatric onset	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0410280	HP:0410280	Pediatric onset	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor		68
HP:0410280	HP:0410280	Pediatric onset	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0410280	HP:0410280	Pediatric onset	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0410280	HP:0410280	Pediatric onset	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0410280	HP:0410280	Pediatric onset	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0410280	HP:0410280	Pediatric onset	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0410280	HP:0410280	Pediatric onset	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0410280	HP:0410280	Pediatric onset	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency		72
HP:0410280	HP:0410280	Pediatric onset	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0410280	HP:0410280	Pediatric onset	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0410280	HP:0410280	Pediatric onset	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0410280	HP:0410280	Pediatric onset	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0410280	HP:0410280	Pediatric onset	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0410280	HP:0410280	Pediatric onset	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0410280	HP:0410280	Pediatric onset	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0410280	HP:0410280	Pediatric onset	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0410280	HP:0410280	Pediatric onset	0	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17		297
HP:0410280	HP:0410280	Pediatric onset	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0410280	HP:0410280	Pediatric onset	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0410280	HP:0410280	Pediatric onset	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0410280	HP:0410280	Pediatric onset	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1		35
HP:0410280	HP:0410280	Pediatric onset	0	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0410280	HP:0410280	Pediatric onset	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I		516
HP:0410280	HP:0410280	Pediatric onset	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0410280	HP:0410280	Pediatric onset	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0410280	HP:0410280	Pediatric onset	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0410280	HP:0410280	Pediatric onset	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0410280	HP:0410280	Pediatric onset	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0410280	HP:0410280	Pediatric onset	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0410280	HP:0410280	Pediatric onset	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		1
HP:0410280	HP:0410280	Pediatric onset	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I		47
HP:0410280	HP:0410280	Pediatric onset	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB		72
HP:0410280	HP:0410280	Pediatric onset	0	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0410280	HP:0410280	Pediatric onset	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0410280	HP:0410280	Pediatric onset	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0410280	HP:0410280	Pediatric onset	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0410280	HP:0410280	Pediatric onset	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0410280	HP:0410280	Pediatric onset	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0410280	HP:0410280	Pediatric onset	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0410280	HP:0410280	Pediatric onset	0	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0410280	HP:0410280	Pediatric onset	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0410280	HP:0410280	Pediatric onset	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0410280	HP:0410280	Pediatric onset	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0410280	HP:0410280	Pediatric onset	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0410280	HP:0410280	Pediatric onset	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0410280	HP:0410280	Pediatric onset	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0410280	HP:0410280	Pediatric onset	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0410280	HP:0410280	Pediatric onset	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22		91
HP:0410280	HP:0410280	Pediatric onset	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0410280	HP:0410280	Pediatric onset	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28		3
HP:0410280	HP:0410280	Pediatric onset	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0410280	HP:0410280	Pediatric onset	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0410280	HP:0410280	Pediatric onset	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11		40
HP:0410280	HP:0410280	Pediatric onset	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0410280	HP:0410280	Pediatric onset	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0410280	HP:0410280	Pediatric onset	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0410280	HP:0410280	Pediatric onset	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0410280	HP:0410280	Pediatric onset	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0410280	HP:0410280	Pediatric onset	0	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0410280	HP:0410280	Pediatric onset	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0410280	HP:0410280	Pediatric onset	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5		81
HP:0410280	HP:0410280	Pediatric onset	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6		65
HP:0410280	HP:0410280	Pediatric onset	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0410280	HP:0410280	Pediatric onset	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0410280	HP:0410280	Pediatric onset	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0410280	HP:0410280	Pediatric onset	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0410280	HP:0410280	Pediatric onset	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7		27
HP:0410280	HP:0410280	Pediatric onset	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0410280	HP:0410280	Pediatric onset	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0410280	HP:0410280	Pediatric onset	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0410280	HP:0410280	Pediatric onset	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0410280	HP:0410280	Pediatric onset	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0410280	HP:0410280	Pediatric onset	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0410280	HP:0410280	Pediatric onset	0	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20		167
HP:0410280	HP:0410280	Pediatric onset	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0410280	HP:0410280	Pediatric onset	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0410280	HP:0410280	Pediatric onset	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0410280	HP:0410280	Pediatric onset	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0410280	HP:0410280	Pediatric onset	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0410280	HP:0410280	Pediatric onset	0	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT		27
HP:0410280	HP:0410280	Pediatric onset	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0410280	HP:0410280	Pediatric onset	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0410280	HP:0410280	Pediatric onset	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0410280	HP:0410280	Pediatric onset	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0410280	HP:0410280	Pediatric onset	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2		27
HP:0410280	HP:0410280	Pediatric onset	0	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary		51
HP:0410280	HP:0410280	Pediatric onset	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0410280	HP:0410280	Pediatric onset	0	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1		24
HP:0410280	HP:0410280	Pediatric onset	0	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1		24
HP:0410280	HP:0410280	Pediatric onset	0	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2		57
HP:0410280	HP:0410280	Pediatric onset	0	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2		57
HP:0410280	HP:0410280	Pediatric onset	0	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4		30
HP:0410280	HP:0410280	Pediatric onset	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0410280	HP:0410280	Pediatric onset	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0410280	HP:0410280	Pediatric onset	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0410280	HP:0410280	Pediatric onset	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0410280	HP:0410280	Pediatric onset	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria		217
HP:0410280	HP:0410280	Pediatric onset	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0410280	HP:0410280	Pediatric onset	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0410280	HP:0410280	Pediatric onset	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0410280	HP:0410280	Pediatric onset	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0410280	HP:0410280	Pediatric onset	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0410280	HP:0410280	Pediatric onset	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0410280	HP:0410280	Pediatric onset	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0410280	HP:0410280	Pediatric onset	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0410280	HP:0410280	Pediatric onset	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0410280	HP:0410280	Pediatric onset	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2		69
HP:0410280	HP:0410280	Pediatric onset	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0410280	HP:0410280	Pediatric onset	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0410280	HP:0410280	Pediatric onset	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0410280	HP:0410280	Pediatric onset	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0410280	HP:0410280	Pediatric onset	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0410280	HP:0410280	Pediatric onset	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0410280	HP:0410280	Pediatric onset	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0410280	HP:0410280	Pediatric onset	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0410280	HP:0410280	Pediatric onset	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0410280	HP:0410280	Pediatric onset	0	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis		97
HP:0410280	HP:0410280	Pediatric onset	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0410280	HP:0410280	Pediatric onset	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0410280	HP:0410280	Pediatric onset	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0410280	HP:0410280	Pediatric onset	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9		1
HP:0410280	HP:0410280	Pediatric onset	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile		7
HP:0410280	HP:0410280	Pediatric onset	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0410280	HP:0410280	Pediatric onset	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0410280	HP:0410280	Pediatric onset	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94
HP:0410280	HP:0410280	Pediatric onset	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0410280	HP:0410280	Pediatric onset	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0410280	HP:0410280	Pediatric onset	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0410280	HP:0410280	Pediatric onset	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0410280	HP:0410280	Pediatric onset	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0410280	HP:0410280	Pediatric onset	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0410280	HP:0410280	Pediatric onset	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0410280	HP:0410280	Pediatric onset	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0410280	HP:0410280	Pediatric onset	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0410280	HP:0410280	Pediatric onset	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0410280	HP:0410280	Pediatric onset	0	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0410280	HP:0410280	Pediatric onset	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0410280	HP:0410280	Pediatric onset	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0410280	HP:0410280	Pediatric onset	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0410280	HP:0410280	Pediatric onset	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0410280	HP:0410280	Pediatric onset	0	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1		3
HP:0410280	HP:0410280	Pediatric onset	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0410280	HP:0410280	Pediatric onset	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0410280	HP:0410280	Pediatric onset	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0410280	HP:0410280	Pediatric onset	0	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0410280	HP:0410280	Pediatric onset	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0410280	HP:0410280	Pediatric onset	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6		26
HP:0410280	HP:0410280	Pediatric onset	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0410280	HP:0410280	Pediatric onset	0	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0410280	HP:0410280	Pediatric onset	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0410280	HP:0410280	Pediatric onset	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0410280	HP:0410280	Pediatric onset	0	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23		352
HP:0410280	HP:0410280	Pediatric onset	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9		225
HP:0410280	HP:0410280	Pediatric onset	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0410280	HP:0410280	Pediatric onset	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic		53
HP:0410280	HP:0410280	Pediatric onset	0	PDCD10 CL E G H	11235	8761	OMIM:603285	Cerebral cavernous malformations 3		21
HP:0410280	HP:0410280	Pediatric onset	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0410280	HP:0410280	Pediatric onset	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0410280	HP:0410280	Pediatric onset	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0410280	HP:0410280	Pediatric onset	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40		126
HP:0410280	HP:0410280	Pediatric onset	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0410280	HP:0410280	Pediatric onset	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A		14
HP:0410280	HP:0410280	Pediatric onset	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0410280	HP:0410280	Pediatric onset	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0410280	HP:0410280	Pediatric onset	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0410280	HP:0410280	Pediatric onset	0	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1		28
HP:0410280	HP:0410280	Pediatric onset	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0410280	HP:0410280	Pediatric onset	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0410280	HP:0410280	Pediatric onset	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0410280	HP:0410280	Pediatric onset	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0410280	HP:0410280	Pediatric onset	0	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0410280	HP:0410280	Pediatric onset	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0410280	HP:0410280	Pediatric onset	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0410280	HP:0410280	Pediatric onset	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0410280	HP:0410280	Pediatric onset	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0410280	HP:0410280	Pediatric onset	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0410280	HP:0410280	Pediatric onset	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0410280	HP:0410280	Pediatric onset	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0410280	HP:0410280	Pediatric onset	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4		20
HP:0410280	HP:0410280	Pediatric onset	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency		21
HP:0410280	HP:0410280	Pediatric onset	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0410280	HP:0410280	Pediatric onset	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0410280	HP:0410280	Pediatric onset	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0410280	HP:0410280	Pediatric onset	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0410280	HP:0410280	Pediatric onset	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0410280	HP:0410280	Pediatric onset	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0410280	HP:0410280	Pediatric onset	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0410280	HP:0410280	Pediatric onset	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0410280	HP:0410280	Pediatric onset	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0410280	HP:0410280	Pediatric onset	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0410280	HP:0410280	Pediatric onset	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0410280	HP:0410280	Pediatric onset	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55		2
HP:0410280	HP:0410280	Pediatric onset	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0410280	HP:0410280	Pediatric onset	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0410280	HP:0410280	Pediatric onset	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0410280	HP:0410280	Pediatric onset	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0410280	HP:0410280	Pediatric onset	0	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive		43
HP:0410280	HP:0410280	Pediatric onset	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0410280	HP:0410280	Pediatric onset	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0410280	HP:0410280	Pediatric onset	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset		55
HP:0410280	HP:0410280	Pediatric onset	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5		135
HP:0410280	HP:0410280	Pediatric onset	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0410280	HP:0410280	Pediatric onset	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0410280	HP:0410280	Pediatric onset	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0410280	HP:0410280	Pediatric onset	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0410280	HP:0410280	Pediatric onset	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0410280	HP:0410280	Pediatric onset	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B		133
HP:0410280	HP:0410280	Pediatric onset	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0410280	HP:0410280	Pediatric onset	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12		119
HP:0410280	HP:0410280	Pediatric onset	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3		118
HP:0410280	HP:0410280	Pediatric onset	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0410280	HP:0410280	Pediatric onset	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0410280	HP:0410280	Pediatric onset	0	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy		759
HP:0410280	HP:0410280	Pediatric onset	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q		759
HP:0410280	HP:0410280	Pediatric onset	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia		3
HP:0410280	HP:0410280	Pediatric onset	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0410280	HP:0410280	Pediatric onset	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4		186
HP:0410280	HP:0410280	Pediatric onset	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0410280	HP:0410280	Pediatric onset	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0410280	HP:0410280	Pediatric onset	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0410280	HP:0410280	Pediatric onset	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0410280	HP:0410280	Pediatric onset	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0410280	HP:0410280	Pediatric onset	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0410280	HP:0410280	Pediatric onset	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0410280	HP:0410280	Pediatric onset	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0410280	HP:0410280	Pediatric onset	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0410280	HP:0410280	Pediatric onset	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0410280	HP:0410280	Pediatric onset	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0410280	HP:0410280	Pediatric onset	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0410280	HP:0410280	Pediatric onset	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0410280	HP:0410280	Pediatric onset	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2		7
HP:0410280	HP:0410280	Pediatric onset	0	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types		3
HP:0410280	HP:0410280	Pediatric onset	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1		66
HP:0410280	HP:0410280	Pediatric onset	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0410280	HP:0410280	Pediatric onset	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0410280	HP:0410280	Pediatric onset	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis		3
HP:0410280	HP:0410280	Pediatric onset	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0410280	HP:0410280	Pediatric onset	0	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70		60
HP:0410280	HP:0410280	Pediatric onset	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0410280	HP:0410280	Pediatric onset	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0410280	HP:0410280	Pediatric onset	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0410280	HP:0410280	Pediatric onset	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0410280	HP:0410280	Pediatric onset	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0410280	HP:0410280	Pediatric onset	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0410280	HP:0410280	Pediatric onset	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0410280	HP:0410280	Pediatric onset	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0410280	HP:0410280	Pediatric onset	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0410280	HP:0410280	Pediatric onset	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0410280	HP:0410280	Pediatric onset	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0410280	HP:0410280	Pediatric onset	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0410280	HP:0410280	Pediatric onset	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0410280	HP:0410280	Pediatric onset	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0410280	HP:0410280	Pediatric onset	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair		27
HP:0410280	HP:0410280	Pediatric onset	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0410280	HP:0410280	Pediatric onset	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0410280	HP:0410280	Pediatric onset	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0410280	HP:0410280	Pediatric onset	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1		213
HP:0410280	HP:0410280	Pediatric onset	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2		221
HP:0410280	HP:0410280	Pediatric onset	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0410280	HP:0410280	Pediatric onset	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile		8
HP:0410280	HP:0410280	Pediatric onset	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0410280	HP:0410280	Pediatric onset	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0410280	HP:0410280	Pediatric onset	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities		2
HP:0410280	HP:0410280	Pediatric onset	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0410280	HP:0410280	Pediatric onset	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0410280	HP:0410280	Pediatric onset	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0410280	HP:0410280	Pediatric onset	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0410280	HP:0410280	Pediatric onset	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0410280	HP:0410280	Pediatric onset	0	PRDX3 CL E G H	10935	9354	OMIM:619871
HP:0410280	HP:0410280	Pediatric onset	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0410280	HP:0410280	Pediatric onset	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0410280	HP:0410280	Pediatric onset	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0410280	HP:0410280	Pediatric onset	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0410280	HP:0410280	Pediatric onset	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0410280	HP:0410280	Pediatric onset	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0410280	HP:0410280	Pediatric onset	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0410280	HP:0410280	Pediatric onset	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0410280	HP:0410280	Pediatric onset	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0410280	HP:0410280	Pediatric onset	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0410280	HP:0410280	Pediatric onset	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0410280	HP:0410280	Pediatric onset	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia		69
HP:0410280	HP:0410280	Pediatric onset	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0410280	HP:0410280	Pediatric onset	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0410280	HP:0410280	Pediatric onset	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0410280	HP:0410280	Pediatric onset	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0410280	HP:0410280	Pediatric onset	0	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2		94
HP:0410280	HP:0410280	Pediatric onset	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1		73
HP:0410280	HP:0410280	Pediatric onset	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0410280	HP:0410280	Pediatric onset	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0410280	HP:0410280	Pediatric onset	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0410280	HP:0410280	Pediatric onset	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0410280	HP:0410280	Pediatric onset	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0410280	HP:0410280	Pediatric onset	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0410280	HP:0410280	Pediatric onset	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0410280	HP:0410280	Pediatric onset	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0410280	HP:0410280	Pediatric onset	0	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency		54
HP:0410280	HP:0410280	Pediatric onset	0	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4		34
HP:0410280	HP:0410280	Pediatric onset	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0410280	HP:0410280	Pediatric onset	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0410280	HP:0410280	Pediatric onset	0	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84		7
HP:0410280	HP:0410280	Pediatric onset	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A		19
HP:0410280	HP:0410280	Pediatric onset	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0410280	HP:0410280	Pediatric onset	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0410280	HP:0410280	Pediatric onset	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0410280	HP:0410280	Pediatric onset	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0410280	HP:0410280	Pediatric onset	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0410280	HP:0410280	Pediatric onset	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C		43
HP:0410280	HP:0410280	Pediatric onset	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0410280	HP:0410280	Pediatric onset	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0410280	HP:0410280	Pediatric onset	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0410280	HP:0410280	Pediatric onset	0	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0410280	HP:0410280	Pediatric onset	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0410280	HP:0410280	Pediatric onset	0	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas		127
HP:0410280	HP:0410280	Pediatric onset	0	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas		50
HP:0410280	HP:0410280	Pediatric onset	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3		57
HP:0410280	HP:0410280	Pediatric onset	0	RASGRP2 CL E G H	10235	9879	OMIM:615888	Bleeding disorder, platelet-type, 18		11
HP:0410280	HP:0410280	Pediatric onset	0	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0410280	HP:0410280	Pediatric onset	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0410280	HP:0410280	Pediatric onset	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0410280	HP:0410280	Pediatric onset	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13		45
HP:0410280	HP:0410280	Pediatric onset	0	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24		97
HP:0410280	HP:0410280	Pediatric onset	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0410280	HP:0410280	Pediatric onset	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0410280	HP:0410280	Pediatric onset	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0410280	HP:0410280	Pediatric onset	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0410280	HP:0410280	Pediatric onset	0	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0410280	HP:0410280	Pediatric onset	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0410280	HP:0410280	Pediatric onset	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0410280	HP:0410280	Pediatric onset	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN		92
HP:0410280	HP:0410280	Pediatric onset	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0410280	HP:0410280	Pediatric onset	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1		107
HP:0410280	HP:0410280	Pediatric onset	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4		107
HP:0410280	HP:0410280	Pediatric onset	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0410280	HP:0410280	Pediatric onset	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0410280	HP:0410280	Pediatric onset	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0410280	HP:0410280	Pediatric onset	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0410280	HP:0410280	Pediatric onset	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0410280	HP:0410280	Pediatric onset	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0410280	HP:0410280	Pediatric onset	0	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis		37
HP:0410280	HP:0410280	Pediatric onset	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0410280	HP:0410280	Pediatric onset	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly		37
HP:0410280	HP:0410280	Pediatric onset	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0410280	HP:0410280	Pediatric onset	0	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0410280	HP:0410280	Pediatric onset	0	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108		1
HP:0410280	HP:0410280	Pediatric onset	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0410280	HP:0410280	Pediatric onset	0	RORC CL E G H	6097	10260	OMIM:616622	Immunodeficiency 42		5
HP:0410280	HP:0410280	Pediatric onset	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0410280	HP:0410280	Pediatric onset	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0410280	HP:0410280	Pediatric onset	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0410280	HP:0410280	Pediatric onset	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0410280	HP:0410280	Pediatric onset	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20		129
HP:0410280	HP:0410280	Pediatric onset	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0410280	HP:0410280	Pediatric onset	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0410280	HP:0410280	Pediatric onset	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5		11
HP:0410280	HP:0410280	Pediatric onset	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0410280	HP:0410280	Pediatric onset	0	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9		26
HP:0410280	HP:0410280	Pediatric onset	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0410280	HP:0410280	Pediatric onset	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0410280	HP:0410280	Pediatric onset	0	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13		3
HP:0410280	HP:0410280	Pediatric onset	0	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital		9
HP:0410280	HP:0410280	Pediatric onset	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0410280	HP:0410280	Pediatric onset	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0410280	HP:0410280	Pediatric onset	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0410280	HP:0410280	Pediatric onset	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0410280	HP:0410280	Pediatric onset	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0410280	HP:0410280	Pediatric onset	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0410280	HP:0410280	Pediatric onset	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0410280	HP:0410280	Pediatric onset	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68		2
HP:0410280	HP:0410280	Pediatric onset	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0410280	HP:0410280	Pediatric onset	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0410280	HP:0410280	Pediatric onset	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0410280	HP:0410280	Pediatric onset	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0410280	HP:0410280	Pediatric onset	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0410280	HP:0410280	Pediatric onset	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0410280	HP:0410280	Pediatric onset	0	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria		1
HP:0410280	HP:0410280	Pediatric onset	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0410280	HP:0410280	Pediatric onset	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0410280	HP:0410280	Pediatric onset	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0410280	HP:0410280	Pediatric onset	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0410280	HP:0410280	Pediatric onset	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0410280	HP:0410280	Pediatric onset	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0410280	HP:0410280	Pediatric onset	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)		1053
HP:0410280	HP:0410280	Pediatric onset	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2		1053
HP:0410280	HP:0410280	Pediatric onset	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0410280	HP:0410280	Pediatric onset	0	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11		427
HP:0410280	HP:0410280	Pediatric onset	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4		70
HP:0410280	HP:0410280	Pediatric onset	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0410280	HP:0410280	Pediatric onset	0	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis		263
HP:0410280	HP:0410280	Pediatric onset	0	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0410280	HP:0410280	Pediatric onset	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16		263
HP:0410280	HP:0410280	Pediatric onset	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg		263
HP:0410280	HP:0410280	Pediatric onset	0	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0410280	HP:0410280	Pediatric onset	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0410280	HP:0410280	Pediatric onset	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3		1134
HP:0410280	HP:0410280	Pediatric onset	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0410280	HP:0410280	Pediatric onset	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0410280	HP:0410280	Pediatric onset	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0410280	HP:0410280	Pediatric onset	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary		318
HP:0410280	HP:0410280	Pediatric onset	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0410280	HP:0410280	Pediatric onset	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0410280	HP:0410280	Pediatric onset	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0410280	HP:0410280	Pediatric onset	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0410280	HP:0410280	Pediatric onset	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0410280	HP:0410280	Pediatric onset	0	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2		16
HP:0410280	HP:0410280	Pediatric onset	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0410280	HP:0410280	Pediatric onset	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0410280	HP:0410280	Pediatric onset	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0410280	HP:0410280	Pediatric onset	0	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0410280	HP:0410280	Pediatric onset	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0410280	HP:0410280	Pediatric onset	0	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0410280	HP:0410280	Pediatric onset	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D		66
HP:0410280	HP:0410280	Pediatric onset	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0410280	HP:0410280	Pediatric onset	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0410280	HP:0410280	Pediatric onset	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0410280	HP:0410280	Pediatric onset	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0410280	HP:0410280	Pediatric onset	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0410280	HP:0410280	Pediatric onset	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0410280	HP:0410280	Pediatric onset	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0410280	HP:0410280	Pediatric onset	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0410280	HP:0410280	Pediatric onset	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0410280	HP:0410280	Pediatric onset	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0410280	HP:0410280	Pediatric onset	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0410280	HP:0410280	Pediatric onset	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic		49
HP:0410280	HP:0410280	Pediatric onset	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0410280	HP:0410280	Pediatric onset	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0410280	HP:0410280	Pediatric onset	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0410280	HP:0410280	Pediatric onset	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0410280	HP:0410280	Pediatric onset	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0410280	HP:0410280	Pediatric onset	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0410280	HP:0410280	Pediatric onset	0	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15		53
HP:0410280	HP:0410280	Pediatric onset	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0410280	HP:0410280	Pediatric onset	0	SHQ1 CL E G H	55164	25543	OMIM:619921
HP:0410280	HP:0410280	Pediatric onset	0	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital		98
HP:0410280	HP:0410280	Pediatric onset	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome		67
HP:0410280	HP:0410280	Pediatric onset	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0410280	HP:0410280	Pediatric onset	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0410280	HP:0410280	Pediatric onset	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0410280	HP:0410280	Pediatric onset	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0410280	HP:0410280	Pediatric onset	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0410280	HP:0410280	Pediatric onset	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0410280	HP:0410280	Pediatric onset	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0410280	HP:0410280	Pediatric onset	0	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type		3
HP:0410280	HP:0410280	Pediatric onset	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0410280	HP:0410280	Pediatric onset	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0410280	HP:0410280	Pediatric onset	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0410280	HP:0410280	Pediatric onset	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6		63
HP:0410280	HP:0410280	Pediatric onset	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0410280	HP:0410280	Pediatric onset	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0410280	HP:0410280	Pediatric onset	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0410280	HP:0410280	Pediatric onset	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0410280	HP:0410280	Pediatric onset	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0410280	HP:0410280	Pediatric onset	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)		36
HP:0410280	HP:0410280	Pediatric onset	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0410280	HP:0410280	Pediatric onset	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory		41
HP:0410280	HP:0410280	Pediatric onset	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1		255
HP:0410280	HP:0410280	Pediatric onset	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0410280	HP:0410280	Pediatric onset	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects		255
HP:0410280	HP:0410280	Pediatric onset	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0410280	HP:0410280	Pediatric onset	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration		48
HP:0410280	HP:0410280	Pediatric onset	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0410280	HP:0410280	Pediatric onset	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0410280	HP:0410280	Pediatric onset	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0410280	HP:0410280	Pediatric onset	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0410280	HP:0410280	Pediatric onset	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0410280	HP:0410280	Pediatric onset	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0410280	HP:0410280	Pediatric onset	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0410280	HP:0410280	Pediatric onset	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0410280	HP:0410280	Pediatric onset	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0410280	HP:0410280	Pediatric onset	0	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant		2
HP:0410280	HP:0410280	Pediatric onset	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0410280	HP:0410280	Pediatric onset	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0410280	HP:0410280	Pediatric onset	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary		101
HP:0410280	HP:0410280	Pediatric onset	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0410280	HP:0410280	Pediatric onset	0	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness		66
HP:0410280	HP:0410280	Pediatric onset	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0410280	HP:0410280	Pediatric onset	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0410280	HP:0410280	Pediatric onset	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0410280	HP:0410280	Pediatric onset	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0410280	HP:0410280	Pediatric onset	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0410280	HP:0410280	Pediatric onset	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0410280	HP:0410280	Pediatric onset	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA		9
HP:0410280	HP:0410280	Pediatric onset	0	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0410280	HP:0410280	Pediatric onset	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0410280	HP:0410280	Pediatric onset	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0410280	HP:0410280	Pediatric onset	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0410280	HP:0410280	Pediatric onset	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0410280	HP:0410280	Pediatric onset	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0410280	HP:0410280	Pediatric onset	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0410280	HP:0410280	Pediatric onset	0	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease		15
HP:0410280	HP:0410280	Pediatric onset	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0410280	HP:0410280	Pediatric onset	0	SMARCA4 CL E G H	6597	11100	OMIM:613325	Rhabdoid tumor predisposition syndrome 2		617
HP:0410280	HP:0410280	Pediatric onset	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0410280	HP:0410280	Pediatric onset	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0410280	HP:0410280	Pediatric onset	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0410280	HP:0410280	Pediatric onset	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0410280	HP:0410280	Pediatric onset	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0410280	HP:0410280	Pediatric onset	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0410280	HP:0410280	Pediatric onset	0	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4		12
HP:0410280	HP:0410280	Pediatric onset	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0410280	HP:0410280	Pediatric onset	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0410280	HP:0410280	Pediatric onset	0	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1		37
HP:0410280	HP:0410280	Pediatric onset	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0410280	HP:0410280	Pediatric onset	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus		29
HP:0410280	HP:0410280	Pediatric onset	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0410280	HP:0410280	Pediatric onset	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0410280	HP:0410280	Pediatric onset	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0410280	HP:0410280	Pediatric onset	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0410280	HP:0410280	Pediatric onset	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0410280	HP:0410280	Pediatric onset	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0410280	HP:0410280	Pediatric onset	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0410280	HP:0410280	Pediatric onset	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0410280	HP:0410280	Pediatric onset	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0410280	HP:0410280	Pediatric onset	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome		19
HP:0410280	HP:0410280	Pediatric onset	0	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0410280	HP:0410280	Pediatric onset	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0410280	HP:0410280	Pediatric onset	0	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3		48
HP:0410280	HP:0410280	Pediatric onset	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5		20
HP:0410280	HP:0410280	Pediatric onset	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile		287
HP:0410280	HP:0410280	Pediatric onset	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0410280	HP:0410280	Pediatric onset	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0410280	HP:0410280	Pediatric onset	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency		28
HP:0410280	HP:0410280	Pediatric onset	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0410280	HP:0410280	Pediatric onset	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5		416
HP:0410280	HP:0410280	Pediatric onset	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5		126
HP:0410280	HP:0410280	Pediatric onset	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14		126
HP:0410280	HP:0410280	Pediatric onset	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0410280	HP:0410280	Pediatric onset	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0410280	HP:0410280	Pediatric onset	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0410280	HP:0410280	Pediatric onset	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0410280	HP:0410280	Pediatric onset	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0410280	HP:0410280	Pediatric onset	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0410280	HP:0410280	Pediatric onset	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0410280	HP:0410280	Pediatric onset	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0410280	HP:0410280	Pediatric onset	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0410280	HP:0410280	Pediatric onset	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0410280	HP:0410280	Pediatric onset	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0410280	HP:0410280	Pediatric onset	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0410280	HP:0410280	Pediatric onset	0	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0410280	HP:0410280	Pediatric onset	0	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw		21
HP:0410280	HP:0410280	Pediatric onset	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0410280	HP:0410280	Pediatric onset	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0410280	HP:0410280	Pediatric onset	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0410280	HP:0410280	Pediatric onset	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0410280	HP:0410280	Pediatric onset	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0410280	HP:0410280	Pediatric onset	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0410280	HP:0410280	Pediatric onset	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0410280	HP:0410280	Pediatric onset	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0410280	HP:0410280	Pediatric onset	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0410280	HP:0410280	Pediatric onset	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0410280	HP:0410280	Pediatric onset	0	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant		1129
HP:0410280	HP:0410280	Pediatric onset	0	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant		508
HP:0410280	HP:0410280	Pediatric onset	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0410280	HP:0410280	Pediatric onset	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome		1
HP:0410280	HP:0410280	Pediatric onset	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0410280	HP:0410280	Pediatric onset	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0410280	HP:0410280	Pediatric onset	0	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like		42
HP:0410280	HP:0410280	Pediatric onset	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60		2
HP:0410280	HP:0410280	Pediatric onset	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0410280	HP:0410280	Pediatric onset	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0410280	HP:0410280	Pediatric onset	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0410280	HP:0410280	Pediatric onset	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0410280	HP:0410280	Pediatric onset	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0410280	HP:0410280	Pediatric onset	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile		271
HP:0410280	HP:0410280	Pediatric onset	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0410280	HP:0410280	Pediatric onset	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0410280	HP:0410280	Pediatric onset	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0410280	HP:0410280	Pediatric onset	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0410280	HP:0410280	Pediatric onset	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0410280	HP:0410280	Pediatric onset	0	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0410280	HP:0410280	Pediatric onset	0	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay		1
HP:0410280	HP:0410280	Pediatric onset	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0410280	HP:0410280	Pediatric onset	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated		57
HP:0410280	HP:0410280	Pediatric onset	0	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0410280	HP:0410280	Pediatric onset	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0410280	HP:0410280	Pediatric onset	0	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant		2
HP:0410280	HP:0410280	Pediatric onset	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0410280	HP:0410280	Pediatric onset	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0410280	HP:0410280	Pediatric onset	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0410280	HP:0410280	Pediatric onset	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24		76
HP:0410280	HP:0410280	Pediatric onset	0	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14		17
HP:0410280	HP:0410280	Pediatric onset	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0410280	HP:0410280	Pediatric onset	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0410280	HP:0410280	Pediatric onset	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0410280	HP:0410280	Pediatric onset	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0410280	HP:0410280	Pediatric onset	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0410280	HP:0410280	Pediatric onset	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0410280	HP:0410280	Pediatric onset	0	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1		85
HP:0410280	HP:0410280	Pediatric onset	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0410280	HP:0410280	Pediatric onset	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0410280	HP:0410280	Pediatric onset	0	TGFBR1 CL E G H	7046	11772	OMIM:132800	Multiple self-healing squamous epithelioma		239
HP:0410280	HP:0410280	Pediatric onset	0	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2		1
HP:0410280	HP:0410280	Pediatric onset	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive		80
HP:0410280	HP:0410280	Pediatric onset	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0410280	HP:0410280	Pediatric onset	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0410280	HP:0410280	Pediatric onset	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0410280	HP:0410280	Pediatric onset	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0410280	HP:0410280	Pediatric onset	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0410280	HP:0410280	Pediatric onset	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0410280	HP:0410280	Pediatric onset	0	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0410280	HP:0410280	Pediatric onset	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0410280	HP:0410280	Pediatric onset	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome		15
HP:0410280	HP:0410280	Pediatric onset	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0410280	HP:0410280	Pediatric onset	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0410280	HP:0410280	Pediatric onset	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0410280	HP:0410280	Pediatric onset	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0410280	HP:0410280	Pediatric onset	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0410280	HP:0410280	Pediatric onset	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0410280	HP:0410280	Pediatric onset	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0410280	HP:0410280	Pediatric onset	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0410280	HP:0410280	Pediatric onset	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0410280	HP:0410280	Pediatric onset	0	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7		109
HP:0410280	HP:0410280	Pediatric onset	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0410280	HP:0410280	Pediatric onset	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0410280	HP:0410280	Pediatric onset	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0410280	HP:0410280	Pediatric onset	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0410280	HP:0410280	Pediatric onset	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0410280	HP:0410280	Pediatric onset	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0410280	HP:0410280	Pediatric onset	0	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8		111
HP:0410280	HP:0410280	Pediatric onset	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0410280	HP:0410280	Pediatric onset	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0410280	HP:0410280	Pediatric onset	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0410280	HP:0410280	Pediatric onset	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0410280	HP:0410280	Pediatric onset	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0410280	HP:0410280	Pediatric onset	0	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16		2
HP:0410280	HP:0410280	Pediatric onset	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0410280	HP:0410280	Pediatric onset	0	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54		2
HP:0410280	HP:0410280	Pediatric onset	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0410280	HP:0410280	Pediatric onset	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0410280	HP:0410280	Pediatric onset	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0410280	HP:0410280	Pediatric onset	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0410280	HP:0410280	Pediatric onset	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2		71
HP:0410280	HP:0410280	Pediatric onset	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0410280	HP:0410280	Pediatric onset	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0410280	HP:0410280	Pediatric onset	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0410280	HP:0410280	Pediatric onset	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0410280	HP:0410280	Pediatric onset	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0410280	HP:0410280	Pediatric onset	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0410280	HP:0410280	Pediatric onset	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0410280	HP:0410280	Pediatric onset	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0410280	HP:0410280	Pediatric onset	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0410280	HP:0410280	Pediatric onset	0	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0410280	HP:0410280	Pediatric onset	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7		203
HP:0410280	HP:0410280	Pediatric onset	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0410280	HP:0410280	Pediatric onset	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0410280	HP:0410280	Pediatric onset	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY		1
HP:0410280	HP:0410280	Pediatric onset	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0410280	HP:0410280	Pediatric onset	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0410280	HP:0410280	Pediatric onset	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0410280	HP:0410280	Pediatric onset	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5		145
HP:0410280	HP:0410280	Pediatric onset	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0410280	HP:0410280	Pediatric onset	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0410280	HP:0410280	Pediatric onset	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0410280	HP:0410280	Pediatric onset	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0410280	HP:0410280	Pediatric onset	0	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28		154
HP:0410280	HP:0410280	Pediatric onset	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0410280	HP:0410280	Pediatric onset	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0410280	HP:0410280	Pediatric onset	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68		1
HP:0410280	HP:0410280	Pediatric onset	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0410280	HP:0410280	Pediatric onset	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0410280	HP:0410280	Pediatric onset	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0410280	HP:0410280	Pediatric 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:0410280	HP:0410280	Pediatric onset	0	TRPA1 CL E G H	8989	497	OMIM:615040	Episodic pain syndrome, familial, 1		1
HP:0410280	HP:0410280	Pediatric onset	0	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal		85
HP:0410280	HP:0410280	Pediatric onset	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial		214
HP:0410280	HP:0410280	Pediatric onset	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0410280	HP:0410280	Pediatric onset	0	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism		214
HP:0410280	HP:0410280	Pediatric onset	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0410280	HP:0410280	Pediatric onset	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0410280	HP:0410280	Pediatric onset	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor		1090
HP:0410280	HP:0410280	Pediatric onset	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor		2738
HP:0410280	HP:0410280	Pediatric onset	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0410280	HP:0410280	Pediatric onset	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0410280	HP:0410280	Pediatric onset	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0410280	HP:0410280	Pediatric onset	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0410280	HP:0410280	Pediatric onset	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39		11
HP:0410280	HP:0410280	Pediatric onset	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0410280	HP:0410280	Pediatric onset	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0410280	HP:0410280	Pediatric onset	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0410280	HP:0410280	Pediatric onset	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0410280	HP:0410280	Pediatric onset	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity		1
HP:0410280	HP:0410280	Pediatric onset	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant		66
HP:0410280	HP:0410280	Pediatric onset	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0410280	HP:0410280	Pediatric onset	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0410280	HP:0410280	Pediatric onset	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0410280	HP:0410280	Pediatric onset	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4		55
HP:0410280	HP:0410280	Pediatric onset	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0410280	HP:0410280	Pediatric onset	0	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7		76
HP:0410280	HP:0410280	Pediatric onset	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0410280	HP:0410280	Pediatric onset	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0410280	HP:0410280	Pediatric onset	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0410280	HP:0410280	Pediatric onset	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0410280	HP:0410280	Pediatric onset	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0410280	HP:0410280	Pediatric onset	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0410280	HP:0410280	Pediatric onset	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0410280	HP:0410280	Pediatric onset	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0410280	HP:0410280	Pediatric onset	0	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0410280	HP:0410280	Pediatric onset	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0410280	HP:0410280	Pediatric onset	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type		2
HP:0410280	HP:0410280	Pediatric onset	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1		66
HP:0410280	HP:0410280	Pediatric onset	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0410280	HP:0410280	Pediatric onset	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0410280	HP:0410280	Pediatric onset	0	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0410280	HP:0410280	Pediatric onset	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0410280	HP:0410280	Pediatric onset	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0410280	HP:0410280	Pediatric onset	0	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0410280	HP:0410280	Pediatric onset	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0410280	HP:0410280	Pediatric onset	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I		173
HP:0410280	HP:0410280	Pediatric onset	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0410280	HP:0410280	Pediatric onset	0	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3		3
HP:0410280	HP:0410280	Pediatric onset	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic		2
HP:0410280	HP:0410280	Pediatric onset	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0410280	HP:0410280	Pediatric onset	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0410280	HP:0410280	Pediatric onset	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0410280	HP:0410280	Pediatric onset	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0410280	HP:0410280	Pediatric onset	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0410280	HP:0410280	Pediatric onset	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0410280	HP:0410280	Pediatric onset	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0410280	HP:0410280	Pediatric onset	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0410280	HP:0410280	Pediatric onset	0	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0410280	HP:0410280	Pediatric onset	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0410280	HP:0410280	Pediatric onset	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0410280	HP:0410280	Pediatric onset	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0410280	HP:0410280	Pediatric onset	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive		7
HP:0410280	HP:0410280	Pediatric onset	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0410280	HP:0410280	Pediatric onset	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0410280	HP:0410280	Pediatric onset	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0410280	HP:0410280	Pediatric onset	0	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX
HP:0410280	HP:0410280	Pediatric onset	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:0410280	HP:0410280	Pediatric onset	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0410280	HP:0410280	Pediatric onset	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0410280	HP:0410280	Pediatric onset	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0410280	HP:0410280	Pediatric onset	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0410280	HP:0410280	Pediatric onset	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0410280	HP:0410280	Pediatric onset	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0410280	HP:0410280	Pediatric onset	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0410280	HP:0410280	Pediatric onset	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures		1
HP:0410280	HP:0410280	Pediatric onset	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0410280	HP:0410280	Pediatric onset	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0410280	HP:0410280	Pediatric onset	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2		27
HP:0410280	HP:0410280	Pediatric onset	0	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6		389
HP:0410280	HP:0410280	Pediatric onset	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0410280	HP:0410280	Pediatric onset	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant		389
HP:0410280	HP:0410280	Pediatric onset	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0410280	HP:0410280	Pediatric onset	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0410280	HP:0410280	Pediatric onset	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0410280	HP:0410280	Pediatric onset	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0410280	HP:0410280	Pediatric onset	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4		177
HP:0410280	HP:0410280	Pediatric onset	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12		149
HP:0410280	HP:0410280	Pediatric onset	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0410280	HP:0410280	Pediatric onset	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C		86
HP:0410280	HP:0410280	Pediatric onset	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0410280	HP:0410280	Pediatric onset	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0410280	HP:0410280	Pediatric onset	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0410280	HP:0410280	Pediatric onset	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0410280	HP:0410280	Pediatric onset	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0410280	HP:0410280	Pediatric onset	0	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56
HP:0410280	HP:0410280	Pediatric onset	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0410280	HP:0410280	Pediatric onset	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0410280	HP:0410280	Pediatric onset	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0410280	HP:0410280	Pediatric onset	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0410280	HP:0410280	Pediatric onset	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0410280	HP:0410280	Pediatric onset	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0410280	HP:0410280	Pediatric onset	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0410280	HP:0410280	Pediatric onset	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0410280	HP:0410280	Pediatric onset	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0410280	HP:0410280	Pediatric onset	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0410280	HP:0410280	Pediatric onset	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0410280	HP:0410280	Pediatric onset	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0410280	HP:0410280	Pediatric onset	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58		27
HP:0410280	HP:0410280	Pediatric onset	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0410280	HP:0410280	Pediatric onset	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0410280	HP:0410280	Pediatric onset	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0410280	HP:0410280	Pediatric onset	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		5
HP:0410280	HP:0410280	Pediatric onset	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10
HP:0410280	HP:0011463	Childhood onset	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0410280	HP:0003621	Juvenile onset	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0410280	HP:0003621	Juvenile onset	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0410280	HP:0003593	Infantile onset	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0410280	HP:0003593	Infantile onset	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0410280	HP:0003593	Infantile onset	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0410280	HP:0003593	Infantile onset	1	AASS CL E G H	10157	17366	OMIM:238700	Hyperlysinemia, type I	.	15
HP:0410280	HP:0011463	Childhood onset	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0410280	HP:0003621	Juvenile onset	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0410280	HP:0003593	Infantile onset	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0410280	HP:0003593	Infantile onset	1	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0410280	HP:0011463	Childhood onset	1	ABCB6 CL E G H	10058	47	OMIM:615402	DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3		20
HP:0410280	HP:0003621	Juvenile onset	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0410280	HP:0003593	Infantile onset	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0410280	HP:0003593	Infantile onset	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0410280	HP:0003593	Infantile onset	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0410280	HP:0003621	Juvenile onset	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0410280	HP:0011463	Childhood onset	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0410280	HP:0003593	Infantile onset	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0410280	HP:0003593	Infantile onset	1	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0410280	HP:0003593	Infantile onset	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0410280	HP:0003593	Infantile onset	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0410280	HP:0011463	Childhood onset	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0410280	HP:0003621	Juvenile onset	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0410280	HP:0003593	Infantile onset	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0410280	HP:0003593	Infantile onset	1	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0410280	HP:0003621	Juvenile onset	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0410280	HP:0011463	Childhood onset	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0410280	HP:0011463	Childhood onset	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0410280	HP:0003593	Infantile onset	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0410280	HP:0011463	Childhood onset	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0410280	HP:0003621	Juvenile onset	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0410280	HP:0003621	Juvenile onset	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0410280	HP:0003593	Infantile onset	1	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0410280	HP:0003621	Juvenile onset	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0410280	HP:0003593	Infantile onset	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:0410280	HP:0003593	Infantile onset	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0410280	HP:0003621	Juvenile onset	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0410280	HP:0011463	Childhood onset	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0410280	HP:0003593	Infantile onset	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0410280	HP:0003593	Infantile onset	1	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61	.
HP:0410280	HP:0011463	Childhood onset	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0410280	HP:0003593	Infantile onset	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0410280	HP:0011463	Childhood onset	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0410280	HP:0003593	Infantile onset	1	ADAR CL E G H	103	225	OMIM:127400	Dyschromatosis symmetrica hereditaria 1	.	116
HP:0410280	HP:0003593	Infantile onset	1	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.	9
HP:0410280	HP:0011463	Childhood onset	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0410280	HP:0003593	Infantile onset	1	ADCY3 CL E G H	109	234	OMIM:617885	Body mass index quantitative trait locus 19
HP:0410280	HP:0003593	Infantile onset	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0410280	HP:0003621	Juvenile onset	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0410280	HP:0003593	Infantile onset	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0410280	HP:0003593	Infantile onset	1	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3		3
HP:0410280	HP:0003593	Infantile onset	1	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0410280	HP:0011463	Childhood onset	1	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.	530
HP:0410280	HP:0003593	Infantile onset	1	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.	530
HP:0410280	HP:0003593	Infantile onset	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.	26
HP:0410280	HP:0003593	Infantile onset	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.	47
HP:0410280	HP:0011463	Childhood onset	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0410280	HP:0003593	Infantile onset	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0410280	HP:0003593	Infantile onset	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0410280	HP:0011463	Childhood onset	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0410280	HP:0003593	Infantile onset	1	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.	86
HP:0410280	HP:0003621	Juvenile onset	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0410280	HP:0011463	Childhood onset	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0410280	HP:0003621	Juvenile onset	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75		2
HP:0410280	HP:0003593	Infantile onset	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0410280	HP:0003593	Infantile onset	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0410280	HP:0011463	Childhood onset	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0410280	HP:0011463	Childhood onset	1	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0410280	HP:0003593	Infantile onset	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0410280	HP:0011463	Childhood onset	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0410280	HP:0003593	Infantile onset	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0410280	HP:0011463	Childhood onset	1	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2		58
HP:0410280	HP:0003593	Infantile onset	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0410280	HP:0011463	Childhood onset	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0410280	HP:0003593	Infantile onset	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0410280	HP:0011463	Childhood onset	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0410280	HP:0003621	Juvenile onset	1	AKAP9 CL E G H	10142	379	OMIM:611820	Long QT syndrome 11		289
HP:0410280	HP:0003593	Infantile onset	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0410280	HP:0011463	Childhood onset	1	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked		72
HP:0410280	HP:0011463	Childhood onset	1	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked	.	72
HP:0410280	HP:0003621	Juvenile onset	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0410280	HP:0003621	Juvenile onset	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0410280	HP:0003593	Infantile onset	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0410280	HP:0011463	Childhood onset	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0410280	HP:0003621	Juvenile onset	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0410280	HP:0003593	Infantile onset	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0410280	HP:0003593	Infantile onset	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0410280	HP:0011463	Childhood onset	1	ALG10B CL E G H	144245	31088	OMIM:613688	Long QT syndrome 2		3
HP:0410280	HP:0003593	Infantile onset	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.	41
HP:0410280	HP:0003593	Infantile onset	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0410280	HP:0003593	Infantile onset	1	ALG14 CL E G H	199857	28287	OMIM:619031	INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF		12
HP:0410280	HP:0003593	Infantile onset	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0410280	HP:0011463	Childhood onset	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0410280	HP:0003621	Juvenile onset	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0410280	HP:0003593	Infantile onset	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0410280	HP:0003621	Juvenile onset	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0410280	HP:0011463	Childhood onset	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0410280	HP:0003593	Infantile onset	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0410280	HP:0011463	Childhood onset	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0410280	HP:0011463	Childhood onset	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0410280	HP:0011463	Childhood onset	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending		114
HP:0410280	HP:0003593	Infantile onset	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0410280	HP:0003593	Infantile onset	1	AMBN CL E G H	258	452	OMIM:616270	AMELOGENESIS IMPERFECTA, TYPE IF; AI1F		2
HP:0410280	HP:0003593	Infantile onset	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	.	2
HP:0410280	HP:0003593	Infantile onset	1	AMTN CL E G H	401138	33188	OMIM:617607	AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B		1
HP:0410280	HP:0003593	Infantile onset	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0410280	HP:0003593	Infantile onset	1	ANGPT2 CL E G H	285	485	OMIM:619369	LYMPHATIC MALFORMATION 10; LMPHM10
HP:0410280	HP:0003621	Juvenile onset	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0410280	HP:0003593	Infantile onset	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0410280	HP:0011463	Childhood onset	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0410280	HP:0011463	Childhood onset	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0410280	HP:0003593	Infantile onset	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0410280	HP:0003621	Juvenile onset	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0410280	HP:0003621	Juvenile onset	1	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8		6
HP:0410280	HP:0003621	Juvenile onset	1	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0410280	HP:0003621	Juvenile onset	1	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia		304
HP:0410280	HP:0003593	Infantile onset	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0410280	HP:0003593	Infantile onset	1	ANTXR1 CL E G H	84168	21014	OMIM:602089	Hemangioma, capillary infantile		8
HP:0410280	HP:0011463	Childhood onset	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0410280	HP:0003593	Infantile onset	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome		49
HP:0410280	HP:0003621	Juvenile onset	1	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0410280	HP:0003593	Infantile onset	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0410280	HP:0003593	Infantile onset	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0410280	HP:0003593	Infantile onset	1	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0410280	HP:0003593	Infantile onset	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0410280	HP:0011463	Childhood onset	1	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0410280	HP:0011463	Childhood onset	1	APCDD1 CL E G H	147495	15718	OMIM:605389	Hypotrichosis 1		1
HP:0410280	HP:0003593	Infantile onset	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1		356
HP:0410280	HP:0011463	Childhood onset	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0410280	HP:0003621	Juvenile onset	1	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0410280	HP:0003621	Juvenile onset	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0410280	HP:0011463	Childhood onset	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0410280	HP:0011463	Childhood onset	1	AQP5 CL E G H	362	638	OMIM:600231	PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB		5
HP:0410280	HP:0003593	Infantile onset	1	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0410280	HP:0003593	Infantile onset	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0410280	HP:0011463	Childhood onset	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia		31
HP:0410280	HP:0003621	Juvenile onset	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0410280	HP:0003621	Juvenile onset	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0410280	HP:0011463	Childhood onset	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0410280	HP:0003593	Infantile onset	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0410280	HP:0003593	Infantile onset	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0410280	HP:0011463	Childhood onset	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0410280	HP:0003593	Infantile onset	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0410280	HP:0011463	Childhood onset	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0410280	HP:0003593	Infantile onset	1	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.	3
HP:0410280	HP:0011463	Childhood onset	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0410280	HP:0011463	Childhood onset	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0410280	HP:0003621	Juvenile onset	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0410280	HP:0003593	Infantile onset	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.	1
HP:0410280	HP:0003593	Infantile onset	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0410280	HP:0003593	Infantile onset	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0410280	HP:0011463	Childhood onset	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0410280	HP:0003593	Infantile onset	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0410280	HP:0003621	Juvenile onset	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0410280	HP:0003593	Infantile onset	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0410280	HP:0003593	Infantile onset	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0410280	HP:0003593	Infantile onset	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0410280	HP:0003621	Juvenile onset	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0410280	HP:0011463	Childhood onset	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0410280	HP:0003621	Juvenile onset	1	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia		16
HP:0410280	HP:0003621	Juvenile onset	1	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0410280	HP:0011463	Childhood onset	1	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0410280	HP:0003621	Juvenile onset	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0410280	HP:0003593	Infantile onset	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0410280	HP:0011463	Childhood onset	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0410280	HP:0003621	Juvenile onset	1	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0410280	HP:0003593	Infantile onset	1	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0410280	HP:0011463	Childhood onset	1	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1		239
HP:0410280	HP:0003621	Juvenile onset	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0410280	HP:0011463	Childhood onset	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0410280	HP:0003593	Infantile onset	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0410280	HP:0003621	Juvenile onset	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0410280	HP:0003593	Infantile onset	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0410280	HP:0011463	Childhood onset	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0410280	HP:0003621	Juvenile onset	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0410280	HP:0003593	Infantile onset	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0410280	HP:0011463	Childhood onset	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0410280	HP:0011463	Childhood onset	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0410280	HP:0003621	Juvenile onset	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0410280	HP:0011463	Childhood onset	1	ATP2A1 CL E G H	487	811	OMIM:601003	BRODY MYOPATHY		80
HP:0410280	HP:0003593	Infantile onset	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0410280	HP:0011463	Childhood onset	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0410280	HP:0011463	Childhood onset	1	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0410280	HP:0003621	Juvenile onset	1	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0410280	HP:0003621	Juvenile onset	1	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0410280	HP:0011463	Childhood onset	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0410280	HP:0011463	Childhood onset	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0410280	HP:0003593	Infantile onset	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0410280	HP:0011463	Childhood onset	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0410280	HP:0003593	Infantile onset	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0410280	HP:0003593	Infantile onset	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0410280	HP:0003621	Juvenile onset	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0410280	HP:0003621	Juvenile onset	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0410280	HP:0003593	Infantile onset	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0410280	HP:0003593	Infantile onset	1	ATP6V0A1 CL E G H	535	865	OMIM:619970			1
HP:0410280	HP:0003593	Infantile onset	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0410280	HP:0011463	Childhood onset	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR		64
HP:0410280	HP:0003593	Infantile onset	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0410280	HP:0003593	Infantile onset	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0410280	HP:0003621	Juvenile onset	1	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.	192
HP:0410280	HP:0003621	Juvenile onset	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0410280	HP:0011463	Childhood onset	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0410280	HP:0003593	Infantile onset	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0410280	HP:0003621	Juvenile onset	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0410280	HP:0011463	Childhood onset	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0410280	HP:0003593	Infantile onset	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0410280	HP:0011463	Childhood onset	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0410280	HP:0003593	Infantile onset	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0410280	HP:0003593	Infantile onset	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0410280	HP:0003621	Juvenile onset	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0410280	HP:0011463	Childhood onset	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0410280	HP:0003593	Infantile onset	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0410280	HP:0003621	Juvenile onset	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0410280	HP:0003593	Infantile onset	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0410280	HP:0011463	Childhood onset	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0410280	HP:0003621	Juvenile onset	1	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0410280	HP:0011463	Childhood onset	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0410280	HP:0003593	Infantile onset	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0410280	HP:0003593	Infantile onset	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0410280	HP:0003593	Infantile onset	1	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0410280	HP:0003593	Infantile onset	1	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome		72
HP:0410280	HP:0011463	Childhood onset	1	BDP1 CL E G H	55814	13652	OMIM:618257	Deafness, autosomal recessive 112		2
HP:0410280	HP:0003621	Juvenile onset	1	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types		15
HP:0410280	HP:0011463	Childhood onset	1	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types		15
HP:0410280	HP:0003621	Juvenile onset	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0410280	HP:0003593	Infantile onset	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0410280	HP:0011463	Childhood onset	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0410280	HP:0003621	Juvenile onset	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0410280	HP:0003593	Infantile onset	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0410280	HP:0003593	Infantile onset	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0410280	HP:0003621	Juvenile onset	1	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0410280	HP:0003593	Infantile onset	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0410280	HP:0003593	Infantile onset	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0410280	HP:0003593	Infantile onset	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0410280	HP:0003593	Infantile onset	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0410280	HP:0003593	Infantile onset	1	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0410280	HP:0003621	Juvenile onset	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0410280	HP:0003621	Juvenile onset	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0410280	HP:0003593	Infantile onset	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0410280	HP:0011463	Childhood onset	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset		223
HP:0410280	HP:0003621	Juvenile onset	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0410280	HP:0003593	Infantile onset	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0410280	HP:0011463	Childhood onset	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0410280	HP:0003621	Juvenile onset	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0410280	HP:0003593	Infantile onset	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0410280	HP:0011463	Childhood onset	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0410280	HP:0003621	Juvenile onset	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0410280	HP:0003621	Juvenile onset	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0410280	HP:0003593	Infantile onset	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0410280	HP:0011463	Childhood onset	1	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0410280	HP:0003593	Infantile onset	1	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0410280	HP:0011463	Childhood onset	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0410280	HP:0003621	Juvenile onset	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0410280	HP:0003593	Infantile onset	1	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0410280	HP:0003593	Infantile onset	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0410280	HP:0003593	Infantile onset	1	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0410280	HP:0003621	Juvenile onset	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0410280	HP:0003593	Infantile onset	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0410280	HP:0003621	Juvenile onset	1	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0410280	HP:0003593	Infantile onset	1	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0410280	HP:0011463	Childhood onset	1	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0410280	HP:0003621	Juvenile onset	1	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0410280	HP:0003593	Infantile onset	1	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0410280	HP:0003593	Infantile onset	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0410280	HP:0003621	Juvenile onset	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.	146
HP:0410280	HP:0011463	Childhood onset	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9		146
HP:0410280	HP:0003621	Juvenile onset	1	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0410280	HP:0011463	Childhood onset	1	CACNG2 CL E G H	10369	1406	OMIM:614256	Mental retardation, autosomal dominant 10		5
HP:0410280	HP:0003593	Infantile onset	1	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0410280	HP:0003593	Infantile onset	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0410280	HP:0011463	Childhood onset	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0410280	HP:0003593	Infantile onset	1	CALM1 CL E G H	801	1442	OMIM:616247	Long QT syndrome 14		18
HP:0410280	HP:0011463	Childhood onset	1	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0410280	HP:0003621	Juvenile onset	1	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0410280	HP:0011463	Childhood onset	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0410280	HP:0003621	Juvenile onset	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0410280	HP:0003593	Infantile onset	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0410280	HP:0003593	Infantile onset	1	CAMK2A CL E G H	815	1460	OMIM:618095	Mental retardation, autosomal recessive 63		1
HP:0410280	HP:0003593	Infantile onset	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0410280	HP:0003593	Infantile onset	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0410280	HP:0003593	Infantile onset	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0410280	HP:0003621	Juvenile onset	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0410280	HP:0011463	Childhood onset	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0410280	HP:0011463	Childhood onset	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0410280	HP:0003621	Juvenile onset	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0410280	HP:0003621	Juvenile onset	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0410280	HP:0003593	Infantile onset	1	CARD11 CL E G H	84433	16393	OMIM:615206	Card11 immunodeficiency	.	45
HP:0410280	HP:0003593	Infantile onset	1	CARD14 CL E G H	79092	16446	OMIM:173200	Pityriasis rubra pilaris		33
HP:0410280	HP:0003621	Juvenile onset	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0410280	HP:0011463	Childhood onset	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0410280	HP:0003593	Infantile onset	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0410280	HP:0011463	Childhood onset	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0410280	HP:0003593	Infantile onset	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0410280	HP:0003621	Juvenile onset	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0410280	HP:0003621	Juvenile onset	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0410280	HP:0003593	Infantile onset	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0410280	HP:0011463	Childhood onset	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0410280	HP:0003621	Juvenile onset	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0410280	HP:0003621	Juvenile onset	1	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:0410280	HP:0011463	Childhood onset	1	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:0410280	HP:0011463	Childhood onset	1	CASQ2 CL E G H	845	1513	OMIM:611938	Ventricular tachycardia, catecholaminergic polymorphic, 2		129
HP:0410280	HP:0003621	Juvenile onset	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0410280	HP:0011463	Childhood onset	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0410280	HP:0003593	Infantile onset	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.	11
HP:0410280	HP:0003621	Juvenile onset	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0410280	HP:0011463	Childhood onset	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0410280	HP:0003621	Juvenile onset	1	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0410280	HP:0003621	Juvenile onset	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0410280	HP:0003593	Infantile onset	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0410280	HP:0011463	Childhood onset	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0410280	HP:0003621	Juvenile onset	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0410280	HP:0011463	Childhood onset	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0410280	HP:0011463	Childhood onset	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0410280	HP:0003593	Infantile onset	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.	3
HP:0410280	HP:0011463	Childhood onset	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0410280	HP:0011463	Childhood onset	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0410280	HP:0003593	Infantile onset	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0410280	HP:0003621	Juvenile onset	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0410280	HP:0003593	Infantile onset	1	CCDC65 CL E G H	85478	29937	OMIM:615504	Ciliary dyskinesia, primary, 27		23
HP:0410280	HP:0011463	Childhood onset	1	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4		25
HP:0410280	HP:0011463	Childhood onset	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0410280	HP:0003593	Infantile onset	1	CD164 CL E G H	8763	1632	OMIM:616969	DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66		1
HP:0410280	HP:0003621	Juvenile onset	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0410280	HP:0011463	Childhood onset	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0410280	HP:0003593	Infantile onset	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0410280	HP:0003593	Infantile onset	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0410280	HP:0003593	Infantile onset	1	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0410280	HP:0003593	Infantile onset	1	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0410280	HP:0003593	Infantile onset	1	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	.	24
HP:0410280	HP:0003593	Infantile onset	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0410280	HP:0003621	Juvenile onset	1	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0410280	HP:0003593	Infantile onset	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0410280	HP:0011463	Childhood onset	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0410280	HP:0003621	Juvenile onset	1	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0410280	HP:0003593	Infantile onset	1	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.	3
HP:0410280	HP:0003593	Infantile onset	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0410280	HP:0011463	Childhood onset	1	CDH2 CL E G H	1000	1759	OMIM:619957
HP:0410280	HP:0003621	Juvenile onset	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0410280	HP:0003593	Infantile onset	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0410280	HP:0003621	Juvenile onset	1	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0410280	HP:0003593	Infantile onset	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0410280	HP:0003593	Infantile onset	1	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0410280	HP:0003593	Infantile onset	1	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25	.	5
HP:0410280	HP:0011463	Childhood onset	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL		9
HP:0410280	HP:0003593	Infantile onset	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8		1
HP:0410280	HP:0003621	Juvenile onset	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0410280	HP:0011463	Childhood onset	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0410280	HP:0003593	Infantile onset	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0410280	HP:0011463	Childhood onset	1	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0410280	HP:0003621	Juvenile onset	1	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.	86
HP:0410280	HP:0011463	Childhood onset	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0410280	HP:0003593	Infantile onset	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency		57
HP:0410280	HP:0003621	Juvenile onset	1	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0410280	HP:0011463	Childhood onset	1	CFI CL E G H	3426	5394	OMIM:612923	Hemolytic uremic syndrome, atypical, susceptibility to, 3		57
HP:0410280	HP:0011463	Childhood onset	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0410280	HP:0011463	Childhood onset	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0410280	HP:0003593	Infantile onset	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0410280	HP:0003593	Infantile onset	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0410280	HP:0011463	Childhood onset	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0410280	HP:0003593	Infantile onset	1	CHD1 CL E G H	1105	1915	OMIM:617682	Pilarowski-Bjornsson syndrome	.	2
HP:0410280	HP:0003593	Infantile onset	1	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0410280	HP:0011463	Childhood onset	1	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0410280	HP:0003593	Infantile onset	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0410280	HP:0003593	Infantile onset	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0410280	HP:0003593	Infantile onset	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0410280	HP:0003593	Infantile onset	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0410280	HP:0011463	Childhood onset	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0410280	HP:0011463	Childhood onset	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0410280	HP:0003621	Juvenile onset	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0410280	HP:0003593	Infantile onset	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0410280	HP:0011463	Childhood onset	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0410280	HP:0003621	Juvenile onset	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0410280	HP:0003593	Infantile onset	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0410280	HP:0003621	Juvenile onset	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0410280	HP:0003593	Infantile onset	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0410280	HP:0011463	Childhood onset	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0410280	HP:0003621	Juvenile onset	1	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0410280	HP:0011463	Childhood onset	1	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1		225
HP:0410280	HP:0003593	Infantile onset	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.	88
HP:0410280	HP:0003593	Infantile onset	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.	88
HP:0410280	HP:0003593	Infantile onset	1	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.	139
HP:0410280	HP:0003593	Infantile onset	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0410280	HP:0011463	Childhood onset	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0410280	HP:0003621	Juvenile onset	1	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1	.	129
HP:0410280	HP:0003621	Juvenile onset	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0410280	HP:0003593	Infantile onset	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0410280	HP:0011463	Childhood onset	1	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0410280	HP:0003621	Juvenile onset	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0410280	HP:0003621	Juvenile onset	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0410280	HP:0011463	Childhood onset	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0410280	HP:0003621	Juvenile onset	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0410280	HP:0011463	Childhood onset	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133
HP:0410280	HP:0003621	Juvenile onset	1	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0410280	HP:0003621	Juvenile onset	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0410280	HP:0011463	Childhood onset	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0410280	HP:0003593	Infantile onset	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0410280	HP:0003593	Infantile onset	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome		45
HP:0410280	HP:0003621	Juvenile onset	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0410280	HP:0003593	Infantile onset	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0410280	HP:0011463	Childhood onset	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0410280	HP:0003593	Infantile onset	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0410280	HP:0003621	Juvenile onset	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0410280	HP:0011463	Childhood onset	1	CLIC5 CL E G H	53405	13517	OMIM:616042	Deafness, autosomal recessive 103		1
HP:0410280	HP:0003593	Infantile onset	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0410280	HP:0003621	Juvenile onset	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0410280	HP:0003593	Infantile onset	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0410280	HP:0003593	Infantile onset	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0410280	HP:0011463	Childhood onset	1	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0410280	HP:0003593	Infantile onset	1	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9		38
HP:0410280	HP:0003593	Infantile onset	1	CLPX CL E G H	10845	2088	OMIM:618015	Protoporphyria, erythropoietic, 2	.
HP:0410280	HP:0011463	Childhood onset	1	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA		60
HP:0410280	HP:0003593	Infantile onset	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0410280	HP:0011463	Childhood onset	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2		82
HP:0410280	HP:0003593	Infantile onset	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0410280	HP:0003593	Infantile onset	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0410280	HP:0011463	Childhood onset	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0410280	HP:0003593	Infantile onset	1	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60
HP:0410280	HP:0011463	Childhood onset	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0410280	HP:0003593	Infantile onset	1	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0410280	HP:0011463	Childhood onset	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0410280	HP:0003593	Infantile onset	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0410280	HP:0011463	Childhood onset	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0410280	HP:0011463	Childhood onset	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0410280	HP:0011463	Childhood onset	1	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0410280	HP:0003621	Juvenile onset	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0410280	HP:0011463	Childhood onset	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0410280	HP:0011463	Childhood onset	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0410280	HP:0003593	Infantile onset	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0410280	HP:0003593	Infantile onset	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0410280	HP:0011463	Childhood onset	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0410280	HP:0003593	Infantile onset	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0410280	HP:0003621	Juvenile onset	1	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0410280	HP:0003593	Infantile onset	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0410280	HP:0003593	Infantile onset	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		263
HP:0410280	HP:0003621	Juvenile onset	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0410280	HP:0011463	Childhood onset	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	.	110
HP:0410280	HP:0003593	Infantile onset	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0410280	HP:0011463	Childhood onset	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0410280	HP:0003593	Infantile onset	1	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0410280	HP:0003593	Infantile onset	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0410280	HP:0011463	Childhood onset	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0410280	HP:0003593	Infantile onset	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0410280	HP:0003621	Juvenile onset	1	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6		39
HP:0410280	HP:0011463	Childhood onset	1	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6		39
HP:0410280	HP:0003593	Infantile onset	1	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.	39
HP:0410280	HP:0003593	Infantile onset	1	CORO1A CL E G H	11151	2252	OMIM:615401	Immunodeficiency 8	.	7
HP:0410280	HP:0003593	Infantile onset	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0410280	HP:0003621	Juvenile onset	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0410280	HP:0003593	Infantile onset	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0410280	HP:0003593	Infantile onset	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0410280	HP:0003593	Infantile onset	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0410280	HP:0003621	Juvenile onset	1	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5		49
HP:0410280	HP:0011463	Childhood onset	1	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5		49
HP:0410280	HP:0003593	Infantile onset	1	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0410280	HP:0003593	Infantile onset	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0410280	HP:0003593	Infantile onset	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0410280	HP:0003593	Infantile onset	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.	101
HP:0410280	HP:0011463	Childhood onset	1	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced		101
HP:0410280	HP:0011463	Childhood onset	1	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0410280	HP:0003593	Infantile onset	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0410280	HP:0011463	Childhood onset	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0410280	HP:0011463	Childhood onset	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12	.	156
HP:0410280	HP:0003621	Juvenile onset	1	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9		12
HP:0410280	HP:0003593	Infantile onset	1	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9		12
HP:0410280	HP:0011463	Childhood onset	1	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9		12
HP:0410280	HP:0003593	Infantile onset	1	CRBN CL E G H	51185	30185	OMIM:607417	Mental retardation, autosomal recessive 2		19
HP:0410280	HP:0003593	Infantile onset	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0410280	HP:0003593	Infantile onset	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7		158
HP:0410280	HP:0011463	Childhood onset	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0410280	HP:0003621	Juvenile onset	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0410280	HP:0003621	Juvenile onset	1	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0410280	HP:0003593	Infantile onset	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0410280	HP:0003593	Infantile onset	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0410280	HP:0003621	Juvenile onset	1	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0410280	HP:0003621	Juvenile onset	1	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7		88
HP:0410280	HP:0003593	Infantile onset	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.	88
HP:0410280	HP:0011463	Childhood onset	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0410280	HP:0003621	Juvenile onset	1	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0410280	HP:0003621	Juvenile onset	1	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.	178
HP:0410280	HP:0003593	Infantile onset	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0410280	HP:0011463	Childhood onset	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0410280	HP:0011463	Childhood onset	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1	.	273
HP:0410280	HP:0003593	Infantile onset	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS		92
HP:0410280	HP:0003593	Infantile onset	1	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0410280	HP:0011463	Childhood onset	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0410280	HP:0003593	Infantile onset	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0410280	HP:0011463	Childhood onset	1	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0410280	HP:0003593	Infantile onset	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0410280	HP:0011463	Childhood onset	1	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0410280	HP:0003593	Infantile onset	1	CYB561 CL E G H	1534	2571	OMIM:618182	Orthostatic hypotension 2
HP:0410280	HP:0003593	Infantile onset	1	CYB5A CL E G H	1528	2570	OMIM:250790	Methemoglobinemia and ambiguous genitalia	.	2
HP:0410280	HP:0003621	Juvenile onset	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0410280	HP:0003621	Juvenile onset	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0410280	HP:0011463	Childhood onset	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0410280	HP:0003593	Infantile onset	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0410280	HP:0003621	Juvenile onset	1	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism		112
HP:0410280	HP:0011463	Childhood onset	1	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism		112
HP:0410280	HP:0003593	Infantile onset	1	CYP1B1 CL E G H	1545	2597	OMIM:231300	Glaucoma 3, primary congenital, A		101
HP:0410280	HP:0003593	Infantile onset	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0410280	HP:0003621	Juvenile onset	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0410280	HP:0003593	Infantile onset	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0410280	HP:0011463	Childhood onset	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0410280	HP:0011463	Childhood onset	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3		2
HP:0410280	HP:0003621	Juvenile onset	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0410280	HP:0011463	Childhood onset	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0410280	HP:0003593	Infantile onset	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0410280	HP:0003621	Juvenile onset	1	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0410280	HP:0011463	Childhood onset	1	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0410280	HP:0003593	Infantile onset	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0410280	HP:0011463	Childhood onset	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0410280	HP:0003593	Infantile onset	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0410280	HP:0011463	Childhood onset	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0410280	HP:0003621	Juvenile onset	1	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0410280	HP:0011463	Childhood onset	1	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0410280	HP:0003593	Infantile onset	1	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0410280	HP:0003593	Infantile onset	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0410280	HP:0003593	Infantile onset	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.	8
HP:0410280	HP:0003593	Infantile onset	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0410280	HP:0003593	Infantile onset	1	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0410280	HP:0003593	Infantile onset	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0410280	HP:0011463	Childhood onset	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0410280	HP:0003621	Juvenile onset	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0410280	HP:0003593	Infantile onset	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.	43
HP:0410280	HP:0003593	Infantile onset	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive		35
HP:0410280	HP:0003621	Juvenile onset	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0410280	HP:0011463	Childhood onset	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0410280	HP:0003593	Infantile onset	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.	62
HP:0410280	HP:0003593	Infantile onset	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0410280	HP:0003593	Infantile onset	1	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.	33
HP:0410280	HP:0003621	Juvenile onset	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0410280	HP:0003593	Infantile onset	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0410280	HP:0011463	Childhood onset	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0410280	HP:0003593	Infantile onset	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0410280	HP:0003621	Juvenile onset	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0410280	HP:0003593	Infantile onset	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0410280	HP:0003621	Juvenile onset	1	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0410280	HP:0003593	Infantile onset	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0410280	HP:0003621	Juvenile onset	1	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0410280	HP:0011463	Childhood onset	1	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1	.	118
HP:0410280	HP:0003621	Juvenile onset	1	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0410280	HP:0003593	Infantile onset	1	DIP2B CL E G H	57609	29284	OMIM:136630	Mental retardation, Fra12a type		4
HP:0410280	HP:0003593	Infantile onset	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0410280	HP:0003593	Infantile onset	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency		89
HP:0410280	HP:0003593	Infantile onset	1	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0410280	HP:0003621	Juvenile onset	1	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0410280	HP:0011463	Childhood onset	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0410280	HP:0003593	Infantile onset	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.	27
HP:0410280	HP:0003593	Infantile onset	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0410280	HP:0011463	Childhood onset	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0410280	HP:0003593	Infantile onset	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3		527
HP:0410280	HP:0003621	Juvenile onset	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0410280	HP:0011463	Childhood onset	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0410280	HP:0011463	Childhood onset	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0410280	HP:0003621	Juvenile onset	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0410280	HP:0011463	Childhood onset	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0410280	HP:0003621	Juvenile onset	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0410280	HP:0003621	Juvenile onset	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0410280	HP:0011463	Childhood onset	1	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0410280	HP:0003621	Juvenile onset	1	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0410280	HP:0003621	Juvenile onset	1	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0410280	HP:0003593	Infantile onset	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0410280	HP:0003593	Infantile onset	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0410280	HP:0003593	Infantile onset	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0410280	HP:0003593	Infantile onset	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0410280	HP:0003593	Infantile onset	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0410280	HP:0011463	Childhood onset	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0410280	HP:0003621	Juvenile onset	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0410280	HP:0003593	Infantile onset	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0410280	HP:0003593	Infantile onset	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0410280	HP:0011463	Childhood onset	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0410280	HP:0003593	Infantile onset	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0410280	HP:0003593	Infantile onset	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0410280	HP:0003593	Infantile onset	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0410280	HP:0003621	Juvenile onset	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0410280	HP:0003593	Infantile onset	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0410280	HP:0011463	Childhood onset	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0410280	HP:0003621	Juvenile onset	1	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0410280	HP:0003593	Infantile onset	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0410280	HP:0003621	Juvenile onset	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0410280	HP:0003593	Infantile onset	1	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0410280	HP:0003621	Juvenile onset	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0410280	HP:0003621	Juvenile onset	1	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0410280	HP:0003593	Infantile onset	1	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2		108
HP:0410280	HP:0011463	Childhood onset	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23		13
HP:0410280	HP:0003593	Infantile onset	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0410280	HP:0003593	Infantile onset	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0410280	HP:0003621	Juvenile onset	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0410280	HP:0003593	Infantile onset	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0410280	HP:0011463	Childhood onset	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.	427
HP:0410280	HP:0003593	Infantile onset	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0410280	HP:0003593	Infantile onset	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0410280	HP:0003621	Juvenile onset	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0410280	HP:0011463	Childhood onset	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0410280	HP:0003621	Juvenile onset	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0410280	HP:0003593	Infantile onset	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0410280	HP:0003593	Infantile onset	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0410280	HP:0003593	Infantile onset	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0410280	HP:0003593	Infantile onset	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0410280	HP:0011463	Childhood onset	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0410280	HP:0003593	Infantile onset	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0410280	HP:0011463	Childhood onset	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0410280	HP:0011463	Childhood onset	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0410280	HP:0003593	Infantile onset	1	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.	1
HP:0410280	HP:0003593	Infantile onset	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0410280	HP:0003593	Infantile onset	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0410280	HP:0003621	Juvenile onset	1	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence		153
HP:0410280	HP:0003621	Juvenile onset	1	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1		153
HP:0410280	HP:0011463	Childhood onset	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0410280	HP:0003593	Infantile onset	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0410280	HP:0003621	Juvenile onset	1	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D	.	58
HP:0410280	HP:0003593	Infantile onset	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0410280	HP:0003593	Infantile onset	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3		2
HP:0410280	HP:0003593	Infantile onset	1	EIF2AK1 CL E G H	27102	24921	OMIM:618878	LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0410280	HP:0011463	Childhood onset	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0410280	HP:0003621	Juvenile onset	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0410280	HP:0003593	Infantile onset	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0410280	HP:0003593	Infantile onset	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0410280	HP:0003621	Juvenile onset	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0410280	HP:0003621	Juvenile onset	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	42
HP:0410280	HP:0003621	Juvenile onset	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	24
HP:0410280	HP:0003621	Juvenile onset	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	32
HP:0410280	HP:0003621	Juvenile onset	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	38
HP:0410280	HP:0003621	Juvenile onset	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	48
HP:0410280	HP:0003593	Infantile onset	1	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0410280	HP:0003593	Infantile onset	1	ELANE CL E G H	1991	3309	OMIM:202700	Neutropenia, severe congenital, 1, autosomal dominant		79
HP:0410280	HP:0003621	Juvenile onset	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0410280	HP:0003593	Infantile onset	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0410280	HP:0011463	Childhood onset	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0410280	HP:0003593	Infantile onset	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0410280	HP:0003593	Infantile onset	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0410280	HP:0011463	Childhood onset	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0410280	HP:0011463	Childhood onset	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0410280	HP:0003621	Juvenile onset	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0410280	HP:0011463	Childhood onset	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0410280	HP:0011463	Childhood onset	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0410280	HP:0003593	Infantile onset	1	ENPP1 CL E G H	5167	3356	OMIM:615522	Cole disease		151
HP:0410280	HP:0011463	Childhood onset	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0410280	HP:0003621	Juvenile onset	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0410280	HP:0003593	Infantile onset	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0410280	HP:0003593	Infantile onset	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0410280	HP:0003593	Infantile onset	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0410280	HP:0003593	Infantile onset	1	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2		3
HP:0410280	HP:0003593	Infantile onset	1	EPO CL E G H	2056	3415	OMIM:617911	DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL		1
HP:0410280	HP:0003621	Juvenile onset	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0410280	HP:0003593	Infantile onset	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0410280	HP:0011463	Childhood onset	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0410280	HP:0003593	Infantile onset	1	ERBB2 CL E G H	2064	3430	OMIM:619465	VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2		77
HP:0410280	HP:0003593	Infantile onset	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0410280	HP:0003593	Infantile onset	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0410280	HP:0003621	Juvenile onset	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0410280	HP:0011463	Childhood onset	1	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0410280	HP:0003593	Infantile onset	1	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0410280	HP:0003593	Infantile onset	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0410280	HP:0011463	Childhood onset	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0410280	HP:0011463	Childhood onset	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0410280	HP:0003593	Infantile onset	1	ERCC6 CL E G H	2074	3438	OMIM:600630	Uv-Sensitive syndrome 1	.	199
HP:0410280	HP:0003593	Infantile onset	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0410280	HP:0003593	Infantile onset	1	ERCC8 CL E G H	1161	3439	OMIM:614621	UV-sensitive syndrome 2	.	55
HP:0410280	HP:0003593	Infantile onset	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0410280	HP:0011463	Childhood onset	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0410280	HP:0003593	Infantile onset	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0410280	HP:0003593	Infantile onset	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0410280	HP:0011463	Childhood onset	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0410280	HP:0003593	Infantile onset	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0410280	HP:0003593	Infantile onset	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0410280	HP:0003593	Infantile onset	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0410280	HP:0003621	Juvenile onset	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0410280	HP:0011463	Childhood onset	1	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I		96
HP:0410280	HP:0011463	Childhood onset	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0410280	HP:0003593	Infantile onset	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II		102
HP:0410280	HP:0003621	Juvenile onset	1	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0410280	HP:0003593	Infantile onset	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0410280	HP:0011463	Childhood onset	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0410280	HP:0011463	Childhood onset	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0410280	HP:0003621	Juvenile onset	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0410280	HP:0011463	Childhood onset	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0410280	HP:0003593	Infantile onset	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0410280	HP:0011463	Childhood onset	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0410280	HP:0003593	Infantile onset	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0410280	HP:0003593	Infantile onset	1	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0410280	HP:0003593	Infantile onset	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications	.
HP:0410280	HP:0011463	Childhood onset	1	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0410280	HP:0011463	Childhood onset	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0410280	HP:0003621	Juvenile onset	1	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0410280	HP:0003593	Infantile onset	1	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0410280	HP:0003593	Infantile onset	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0410280	HP:0011463	Childhood onset	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0410280	HP:0003593	Infantile onset	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0410280	HP:0011463	Childhood onset	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0410280	HP:0003593	Infantile onset	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0410280	HP:0011463	Childhood onset	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0410280	HP:0003593	Infantile onset	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0410280	HP:0011463	Childhood onset	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0410280	HP:0011463	Childhood onset	1	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0410280	HP:0003621	Juvenile onset	1	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0410280	HP:0011463	Childhood onset	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.	145
HP:0410280	HP:0003593	Infantile onset	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.	23
HP:0410280	HP:0003593	Infantile onset	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0410280	HP:0011463	Childhood onset	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0410280	HP:0003593	Infantile onset	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0410280	HP:0011463	Childhood onset	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0410280	HP:0011463	Childhood onset	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0410280	HP:0003593	Infantile onset	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0410280	HP:0011463	Childhood onset	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0410280	HP:0003593	Infantile onset	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0410280	HP:0011463	Childhood onset	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0410280	HP:0003621	Juvenile onset	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0410280	HP:0011463	Childhood onset	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0410280	HP:0003621	Juvenile onset	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0410280	HP:0003593	Infantile onset	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0410280	HP:0011463	Childhood onset	1	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4		184
HP:0410280	HP:0003593	Infantile onset	1	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	.	184
HP:0410280	HP:0003593	Infantile onset	1	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0410280	HP:0011463	Childhood onset	1	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0410280	HP:0003593	Infantile onset	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0410280	HP:0011463	Childhood onset	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0410280	HP:0003621	Juvenile onset	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0410280	HP:0003621	Juvenile onset	1	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia		4
HP:0410280	HP:0003593	Infantile onset	1	FLT4 CL E G H	2324	3767	OMIM:602089	Hemangioma, capillary infantile		90
HP:0410280	HP:0011463	Childhood onset	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	111
HP:0410280	HP:0003593	Infantile onset	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47		44
HP:0410280	HP:0011463	Childhood onset	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0410280	HP:0003621	Juvenile onset	1	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0410280	HP:0003593	Infantile onset	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0410280	HP:0003593	Infantile onset	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0410280	HP:0003621	Juvenile onset	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0410280	HP:0003621	Juvenile onset	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0410280	HP:0003593	Infantile onset	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0410280	HP:0011463	Childhood onset	1	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2		23
HP:0410280	HP:0003593	Infantile onset	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0410280	HP:0011463	Childhood onset	1	FOXP2 CL E G H	93986	13875	OMIM:602081	Speech-language disorder-1		143
HP:0410280	HP:0003593	Infantile onset	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0410280	HP:0011463	Childhood onset	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0410280	HP:0003593	Infantile onset	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0410280	HP:0003593	Infantile onset	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.	38
HP:0410280	HP:0003593	Infantile onset	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0410280	HP:0011463	Childhood onset	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0410280	HP:0003593	Infantile onset	1	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37		4
HP:0410280	HP:0003621	Juvenile onset	1	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1		50
HP:0410280	HP:0003621	Juvenile onset	1	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0410280	HP:0003593	Infantile onset	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0410280	HP:0011463	Childhood onset	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0410280	HP:0003593	Infantile onset	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0410280	HP:0003621	Juvenile onset	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0410280	HP:0003593	Infantile onset	1	FYCO1 CL E G H	79443	14673	OMIM:610019	Cataract, autosomal recessive congenital 2		140
HP:0410280	HP:0003593	Infantile onset	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0410280	HP:0003593	Infantile onset	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0410280	HP:0011463	Childhood onset	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0410280	HP:0003621	Juvenile onset	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0410280	HP:0003593	Infantile onset	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0410280	HP:0011463	Childhood onset	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0410280	HP:0003593	Infantile onset	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0410280	HP:0003593	Infantile onset	1	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19		134
HP:0410280	HP:0003593	Infantile onset	1	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.	3
HP:0410280	HP:0003593	Infantile onset	1	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.	57
HP:0410280	HP:0003593	Infantile onset	1	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.	139
HP:0410280	HP:0011463	Childhood onset	1	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0410280	HP:0003593	Infantile onset	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0410280	HP:0003621	Juvenile onset	1	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0410280	HP:0003593	Infantile onset	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0410280	HP:0011463	Childhood onset	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0410280	HP:0011463	Childhood onset	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency		52
HP:0410280	HP:0003593	Infantile onset	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0410280	HP:0003621	Juvenile onset	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0410280	HP:0003621	Juvenile onset	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0410280	HP:0003593	Infantile onset	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0410280	HP:0003621	Juvenile onset	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0410280	HP:0003593	Infantile onset	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0410280	HP:0003621	Juvenile onset	1	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0410280	HP:0003593	Infantile onset	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0410280	HP:0003593	Infantile onset	1	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	.	29
HP:0410280	HP:0003593	Infantile onset	1	GATA1 CL E G H	2623	4170	OMIM:300367	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	.	29
HP:0410280	HP:0003593	Infantile onset	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0410280	HP:0003593	Infantile onset	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	.	86
HP:0410280	HP:0011463	Childhood onset	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0410280	HP:0011463	Childhood onset	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0410280	HP:0003621	Juvenile onset	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0410280	HP:0011463	Childhood onset	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0410280	HP:0003593	Infantile onset	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0410280	HP:0011463	Childhood onset	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0410280	HP:0003621	Juvenile onset	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0410280	HP:0011463	Childhood onset	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0410280	HP:0003593	Infantile onset	1	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0410280	HP:0003621	Juvenile onset	1	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0410280	HP:0003593	Infantile onset	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	108
HP:0410280	HP:0011463	Childhood onset	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0410280	HP:0011463	Childhood onset	1	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.	108
HP:0410280	HP:0003593	Infantile onset	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0410280	HP:0003593	Infantile onset	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.	1
HP:0410280	HP:0003593	Infantile onset	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0410280	HP:0011463	Childhood onset	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0410280	HP:0003621	Juvenile onset	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0410280	HP:0011463	Childhood onset	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0410280	HP:0003593	Infantile onset	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.	188
HP:0410280	HP:0003593	Infantile onset	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0410280	HP:0003593	Infantile onset	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0410280	HP:0011463	Childhood onset	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0410280	HP:0003621	Juvenile onset	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0410280	HP:0003593	Infantile onset	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0410280	HP:0003593	Infantile onset	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0410280	HP:0011463	Childhood onset	1	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome		98
HP:0410280	HP:0011463	Childhood onset	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0410280	HP:0003621	Juvenile onset	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0410280	HP:0003593	Infantile onset	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0410280	HP:0011463	Childhood onset	1	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0410280	HP:0003593	Infantile onset	1	GJB3 CL E G H	2707	4285	OMIM:133200	Erythrokeratodermia variabilis et progressiva 1	.	74
HP:0410280	HP:0003593	Infantile onset	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0410280	HP:0003621	Juvenile onset	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0410280	HP:0003593	Infantile onset	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0410280	HP:0011463	Childhood onset	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0410280	HP:0003621	Juvenile onset	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0410280	HP:0003593	Infantile onset	1	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.	63
HP:0410280	HP:0011463	Childhood onset	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0410280	HP:0003593	Infantile onset	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0410280	HP:0003593	Infantile onset	1	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6		56
HP:0410280	HP:0003593	Infantile onset	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0410280	HP:0003593	Infantile onset	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0410280	HP:0011463	Childhood onset	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0410280	HP:0003621	Juvenile onset	1	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25		13
HP:0410280	HP:0003593	Infantile onset	1	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0410280	HP:0003621	Juvenile onset	1	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0410280	HP:0003593	Infantile onset	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0410280	HP:0003593	Infantile onset	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.	12
HP:0410280	HP:0003593	Infantile onset	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0410280	HP:0011463	Childhood onset	1	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0410280	HP:0003593	Infantile onset	1	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		7
HP:0410280	HP:0003593	Infantile onset	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0410280	HP:0003593	Infantile onset	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0410280	HP:0011463	Childhood onset	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0410280	HP:0003621	Juvenile onset	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0410280	HP:0011463	Childhood onset	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0410280	HP:0003593	Infantile onset	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0410280	HP:0011463	Childhood onset	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0410280	HP:0003593	Infantile onset	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0410280	HP:0011463	Childhood onset	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0410280	HP:0011463	Childhood onset	1	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0410280	HP:0003593	Infantile onset	1	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0410280	HP:0003593	Infantile onset	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0410280	HP:0003593	Infantile onset	1	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.	3
HP:0410280	HP:0003593	Infantile onset	1	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.	18
HP:0410280	HP:0011463	Childhood onset	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0410280	HP:0003593	Infantile onset	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0410280	HP:0011463	Childhood onset	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0410280	HP:0003593	Infantile onset	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49		4
HP:0410280	HP:0003593	Infantile onset	1	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0410280	HP:0003593	Infantile onset	1	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0410280	HP:0003593	Infantile onset	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0410280	HP:0003593	Infantile onset	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0410280	HP:0003593	Infantile onset	1	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	.	32
HP:0410280	HP:0003593	Infantile onset	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.	108
HP:0410280	HP:0003593	Infantile onset	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0410280	HP:0003593	Infantile onset	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0410280	HP:0003593	Infantile onset	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.	2
HP:0410280	HP:0003593	Infantile onset	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0410280	HP:0011463	Childhood onset	1	GRXCR2 CL E G H	643226	33862	OMIM:615837	Deafness, autosomal recessive 101		3
HP:0410280	HP:0003593	Infantile onset	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0410280	HP:0011463	Childhood onset	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0410280	HP:0003593	Infantile onset	1	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6		12
HP:0410280	HP:0011463	Childhood onset	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0410280	HP:0003593	Infantile onset	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0410280	HP:0003593	Infantile onset	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII		54
HP:0410280	HP:0011463	Childhood onset	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0410280	HP:0003593	Infantile onset	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0410280	HP:0003593	Infantile onset	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0410280	HP:0003593	Infantile onset	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0410280	HP:0003621	Juvenile onset	1	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0410280	HP:0011463	Childhood onset	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0410280	HP:0003593	Infantile onset	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0410280	HP:0003593	Infantile onset	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0410280	HP:0011463	Childhood onset	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0410280	HP:0003621	Juvenile onset	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0410280	HP:0003593	Infantile onset	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0410280	HP:0011463	Childhood onset	1	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0410280	HP:0003593	Infantile onset	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0410280	HP:0003593	Infantile onset	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24		54
HP:0410280	HP:0011463	Childhood onset	1	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24		54
HP:0410280	HP:0003593	Infantile onset	1	HCN2 CL E G H	610	4846	OMIM:602477	Febrile seizures, familial, 2	.	7
HP:0410280	HP:0003593	Infantile onset	1	HCN4 CL E G H	10021	16882	OMIM:619521	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 18; EIG18		185
HP:0410280	HP:0003621	Juvenile onset	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0410280	HP:0003593	Infantile onset	1	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1		1
HP:0410280	HP:0011463	Childhood onset	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0410280	HP:0003593	Infantile onset	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0410280	HP:0003593	Infantile onset	1	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	82
HP:0410280	HP:0003593	Infantile onset	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0410280	HP:0011463	Childhood onset	1	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A		82
HP:0410280	HP:0003593	Infantile onset	1	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38	.	38
HP:0410280	HP:0003593	Infantile onset	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0410280	HP:0003593	Infantile onset	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria		77
HP:0410280	HP:0011463	Childhood onset	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0410280	HP:0003621	Juvenile onset	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0410280	HP:0003593	Infantile onset	1	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.	32
HP:0410280	HP:0003593	Infantile onset	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0410280	HP:0003593	Infantile onset	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.	3
HP:0410280	HP:0011463	Childhood onset	1	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0410280	HP:0003621	Juvenile onset	1	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0410280	HP:0003593	Infantile onset	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0410280	HP:0003621	Juvenile onset	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0410280	HP:0011463	Childhood onset	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0410280	HP:0003593	Infantile onset	1	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III	.	161
HP:0410280	HP:0003593	Infantile onset	1	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51	.	3
HP:0410280	HP:0003593	Infantile onset	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0410280	HP:0003593	Infantile onset	1	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.	39
HP:0410280	HP:0003621	Juvenile onset	1	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0410280	HP:0003593	Infantile onset	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0410280	HP:0011463	Childhood onset	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0410280	HP:0003621	Juvenile onset	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0410280	HP:0003593	Infantile onset	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0410280	HP:0011463	Childhood onset	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0410280	HP:0003621	Juvenile onset	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0410280	HP:0003621	Juvenile onset	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0410280	HP:0003621	Juvenile onset	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0410280	HP:0003593	Infantile onset	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0410280	HP:0003621	Juvenile onset	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0410280	HP:0003621	Juvenile onset	1	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2		5
HP:0410280	HP:0011463	Childhood onset	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess		14
HP:0410280	HP:0003593	Infantile onset	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0410280	HP:0003621	Juvenile onset	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0410280	HP:0003593	Infantile onset	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0410280	HP:0011463	Childhood onset	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0410280	HP:0003621	Juvenile onset	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0410280	HP:0003593	Infantile onset	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0410280	HP:0003621	Juvenile onset	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0410280	HP:0011463	Childhood onset	1	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0410280	HP:0011463	Childhood onset	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0410280	HP:0003621	Juvenile onset	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0410280	HP:0003593	Infantile onset	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5	.	21
HP:0410280	HP:0003593	Infantile onset	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0410280	HP:0011463	Childhood onset	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1		32
HP:0410280	HP:0003621	Juvenile onset	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0410280	HP:0011463	Childhood onset	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0410280	HP:0003593	Infantile onset	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0410280	HP:0003593	Infantile onset	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0410280	HP:0011463	Childhood onset	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0410280	HP:0003621	Juvenile onset	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0410280	HP:0011463	Childhood onset	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0410280	HP:0003593	Infantile onset	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0410280	HP:0003593	Infantile onset	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0410280	HP:0011463	Childhood onset	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0410280	HP:0003621	Juvenile onset	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0410280	HP:0003593	Infantile onset	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0410280	HP:0003593	Infantile onset	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0410280	HP:0003593	Infantile onset	1	IFNAR1 CL E G H	3454	5432	OMIM:619935
HP:0410280	HP:0003621	Juvenile onset	1	IFNAR1 CL E G H	3454	5432	OMIM:619935
HP:0410280	HP:0003593	Infantile onset	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0410280	HP:0011463	Childhood onset	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0410280	HP:0003621	Juvenile onset	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0410280	HP:0011463	Childhood onset	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0410280	HP:0003593	Infantile onset	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0410280	HP:0011463	Childhood onset	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0410280	HP:0003593	Infantile onset	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0410280	HP:0003593	Infantile onset	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	.	3
HP:0410280	HP:0003593	Infantile onset	1	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15	.	4
HP:0410280	HP:0011463	Childhood onset	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0410280	HP:0003593	Infantile onset	1	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0410280	HP:0003593	Infantile onset	1	IKBKG CL E G H	8517	5961	OMIM:300636	Immunodeficiency 33		52
HP:0410280	HP:0003621	Juvenile onset	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0410280	HP:0011463	Childhood onset	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0410280	HP:0003593	Infantile onset	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0410280	HP:0011463	Childhood onset	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0410280	HP:0003593	Infantile onset	1	IL12B CL E G H	3593	5970	OMIM:614890	Immunodeficiency 29		31
HP:0410280	HP:0011463	Childhood onset	1	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0410280	HP:0003593	Infantile onset	1	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0410280	HP:0003593	Infantile onset	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0410280	HP:0011463	Childhood onset	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0410280	HP:0003593	Infantile onset	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0410280	HP:0003593	Infantile onset	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0410280	HP:0003621	Juvenile onset	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0410280	HP:0003593	Infantile onset	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0410280	HP:0011463	Childhood onset	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0410280	HP:0003593	Infantile onset	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0410280	HP:0003593	Infantile onset	1	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5		1
HP:0410280	HP:0003621	Juvenile onset	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0410280	HP:0003593	Infantile onset	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0410280	HP:0011463	Childhood onset	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0410280	HP:0003593	Infantile onset	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0410280	HP:0003593	Infantile onset	1	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0410280	HP:0003593	Infantile onset	1	ILDR1 CL E G H	286676	28741	OMIM:609646	Deafness, neurosensory, autosomal recessive 42	.	42
HP:0410280	HP:0011463	Childhood onset	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0410280	HP:0003593	Infantile onset	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.	52
HP:0410280	HP:0011463	Childhood onset	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0410280	HP:0003621	Juvenile onset	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0410280	HP:0011463	Childhood onset	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0410280	HP:0003593	Infantile onset	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0410280	HP:0003621	Juvenile onset	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0410280	HP:0011463	Childhood onset	1	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0410280	HP:0003593	Infantile onset	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1		119
HP:0410280	HP:0003593	Infantile onset	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0410280	HP:0003621	Juvenile onset	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0410280	HP:0011463	Childhood onset	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0410280	HP:0003593	Infantile onset	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0410280	HP:0011463	Childhood onset	1	IRF7 CL E G H	3665	6122	OMIM:616345	Immunodeficiency 39		2
HP:0410280	HP:0011463	Childhood onset	1	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A		5
HP:0410280	HP:0003593	Infantile onset	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0410280	HP:0003593	Infantile onset	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.	1
HP:0410280	HP:0011463	Childhood onset	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0410280	HP:0003621	Juvenile onset	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0410280	HP:0003593	Infantile onset	1	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital		6
HP:0410280	HP:0003593	Infantile onset	1	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0410280	HP:0011463	Childhood onset	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0410280	HP:0003621	Juvenile onset	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0410280	HP:0003593	Infantile onset	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0410280	HP:0003593	Infantile onset	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0410280	HP:0003621	Juvenile onset	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0410280	HP:0003593	Infantile onset	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0410280	HP:0011463	Childhood onset	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0410280	HP:0003593	Infantile onset	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0410280	HP:0011463	Childhood onset	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0410280	HP:0011463	Childhood onset	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0410280	HP:0003621	Juvenile onset	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0410280	HP:0003593	Infantile onset	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0410280	HP:0003593	Infantile onset	1	JAGN1 CL E G H	84522	26926	OMIM:616022	Neutropenia, severe congenital, 6, autosomal recessive		8
HP:0410280	HP:0003593	Infantile onset	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0410280	HP:0003593	Infantile onset	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	1
HP:0410280	HP:0011463	Childhood onset	1	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16		1
HP:0410280	HP:0011463	Childhood onset	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0410280	HP:0003621	Juvenile onset	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0410280	HP:0003593	Infantile onset	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.	13
HP:0410280	HP:0011463	Childhood onset	1	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32		13
HP:0410280	HP:0011463	Childhood onset	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0410280	HP:0003593	Infantile onset	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0410280	HP:0003593	Infantile onset	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0410280	HP:0003593	Infantile onset	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0410280	HP:0011463	Childhood onset	1	KCNH2 CL E G H	3757	6251	OMIM:613688	Long QT syndrome 2		901
HP:0410280	HP:0003593	Infantile onset	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0410280	HP:0003621	Juvenile onset	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0410280	HP:0003621	Juvenile onset	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0410280	HP:0003593	Infantile onset	1	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures	.	114
HP:0410280	HP:0003593	Infantile onset	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0410280	HP:0003621	Juvenile onset	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0410280	HP:0003593	Infantile onset	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0410280	HP:0011463	Childhood onset	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0410280	HP:0003621	Juvenile onset	1	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0410280	HP:0011463	Childhood onset	1	KCNQ1 CL E G H	3784	6294	OMIM:192500	LONG QT SYNDROME 1; LQT1		730
HP:0410280	HP:0003593	Infantile onset	1	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.	528
HP:0410280	HP:0011463	Childhood onset	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46		5
HP:0410280	HP:0003593	Infantile onset	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46		5
HP:0410280	HP:0011463	Childhood onset	1	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5		321
HP:0410280	HP:0003621	Juvenile onset	1	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5		321
HP:0410280	HP:0003593	Infantile onset	1	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.	1
HP:0410280	HP:0003621	Juvenile onset	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0410280	HP:0011463	Childhood onset	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0410280	HP:0003593	Infantile onset	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0410280	HP:0011463	Childhood onset	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0410280	HP:0003593	Infantile onset	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0410280	HP:0003593	Infantile onset	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0410280	HP:0003593	Infantile onset	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0410280	HP:0011463	Childhood onset	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0410280	HP:0003593	Infantile onset	1	KDR CL E G H	3791	6307	OMIM:602089	Hemangioma, capillary infantile		40
HP:0410280	HP:0011463	Childhood onset	1	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2		8
HP:0410280	HP:0003593	Infantile onset	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0410280	HP:0011463	Childhood onset	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0410280	HP:0003593	Infantile onset	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0410280	HP:0003621	Juvenile onset	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0410280	HP:0003593	Infantile onset	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0410280	HP:0003621	Juvenile onset	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0410280	HP:0011463	Childhood onset	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0410280	HP:0003621	Juvenile onset	1	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0410280	HP:0011463	Childhood onset	1	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0410280	HP:0003621	Juvenile onset	1	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0410280	HP:0003593	Infantile onset	1	KITLG CL E G H	4254	6343	OMIM:145250	Hyperpigmentation, familial progressive		9
HP:0410280	HP:0011463	Childhood onset	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0410280	HP:0003593	Infantile onset	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0410280	HP:0003621	Juvenile onset	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0410280	HP:0003593	Infantile onset	1	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.	42
HP:0410280	HP:0011463	Childhood onset	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0410280	HP:0003621	Juvenile onset	1	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0410280	HP:0003593	Infantile onset	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0410280	HP:0003593	Infantile onset	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0410280	HP:0003621	Juvenile onset	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0410280	HP:0011463	Childhood onset	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0410280	HP:0011463	Childhood onset	1	KRT1 CL E G H	3848	6412	OMIM:607654	KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3		100
HP:0410280	HP:0003593	Infantile onset	1	KRT14 CL E G H	3861	6416	OMIM:601001	Epidermolysis bullosa simplex, autosomal recessive 1		110
HP:0410280	HP:0011463	Childhood onset	1	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0410280	HP:0003593	Infantile onset	1	KRT14 CL E G H	3861	6416	OMIM:131900	Epidermolysis bullosa simplex, Koebner type		110
HP:0410280	HP:0011463	Childhood onset	1	KRT14 CL E G H	3861	6416	OMIM:131800	Epidermolysis bullosa simplex, Weber-Cockayne type		110
HP:0410280	HP:0003593	Infantile onset	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0410280	HP:0011463	Childhood onset	1	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation		173
HP:0410280	HP:0011463	Childhood onset	1	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0410280	HP:0011463	Childhood onset	1	KRT74 CL E G H	121391	28929	OMIM:613981	Hypotrichosis 3		5
HP:0410280	HP:0003593	Infantile onset	1	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.	3
HP:0410280	HP:0003593	Infantile onset	1	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.	65
HP:0410280	HP:0003593	Infantile onset	1	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.	10
HP:0410280	HP:0003593	Infantile onset	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0410280	HP:0011463	Childhood onset	1	LACC1 CL E G H	144811	26789	OMIM:618795	JUVENILE ARTHRITIS; JUVAR		1
HP:0410280	HP:0011463	Childhood onset	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0410280	HP:0003621	Juvenile onset	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0410280	HP:0011463	Childhood onset	1	LAMA5 CL E G H	3911	6485	OMIM:620049			5
HP:0410280	HP:0003593	Infantile onset	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0410280	HP:0003593	Infantile onset	1	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5	.	70
HP:0410280	HP:0003593	Infantile onset	1	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0410280	HP:0003621	Juvenile onset	1	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.	35
HP:0410280	HP:0011463	Childhood onset	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0410280	HP:0003593	Infantile onset	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency		46
HP:0410280	HP:0011463	Childhood onset	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0410280	HP:0003593	Infantile onset	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0410280	HP:0003621	Juvenile onset	1	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0410280	HP:0003593	Infantile onset	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0410280	HP:0011463	Childhood onset	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0410280	HP:0011463	Childhood onset	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0410280	HP:0003593	Infantile onset	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96		9
HP:0410280	HP:0003621	Juvenile onset	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0410280	HP:0011463	Childhood onset	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0410280	HP:0011463	Childhood onset	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0410280	HP:0003593	Infantile onset	1	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64
HP:0410280	HP:0003593	Infantile onset	1	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27		25
HP:0410280	HP:0003621	Juvenile onset	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0410280	HP:0003593	Infantile onset	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0410280	HP:0011463	Childhood onset	1	LIPN CL E G H	643418	23452	OMIM:613943	Ichthyosis, congenital, autosomal recessive 8		1
HP:0410280	HP:0003593	Infantile onset	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0410280	HP:0003621	Juvenile onset	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.	74
HP:0410280	HP:0003593	Infantile onset	1	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0410280	HP:0003593	Infantile onset	1	LMAN2L CL E G H	81562	19263	OMIM:616887	Mental retardation, autosomal recessive 52	.	1
HP:0410280	HP:0003593	Infantile onset	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0410280	HP:0011463	Childhood onset	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0410280	HP:0003621	Juvenile onset	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0410280	HP:0003593	Infantile onset	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0410280	HP:0011463	Childhood onset	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0410280	HP:0011463	Childhood onset	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0410280	HP:0003621	Juvenile onset	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0410280	HP:0003621	Juvenile onset	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0410280	HP:0011463	Childhood onset	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0410280	HP:0003593	Infantile onset	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0410280	HP:0003621	Juvenile onset	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0410280	HP:0003621	Juvenile onset	1	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0410280	HP:0011463	Childhood onset	1	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28		4
HP:0410280	HP:0003621	Juvenile onset	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0410280	HP:0011463	Childhood onset	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0410280	HP:0003621	Juvenile onset	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0410280	HP:0003593	Infantile onset	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0410280	HP:0011463	Childhood onset	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0410280	HP:0003621	Juvenile onset	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0410280	HP:0003593	Infantile onset	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0410280	HP:0003593	Infantile onset	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0410280	HP:0003593	Infantile onset	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0410280	HP:0003593	Infantile onset	1	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia		1
HP:0410280	HP:0003593	Infantile onset	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0410280	HP:0011463	Childhood onset	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0410280	HP:0003593	Infantile onset	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0410280	HP:0003621	Juvenile onset	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0410280	HP:0003593	Infantile onset	1	LYSET CL E G H	26175	20218	OMIM:619345	DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0410280	HP:0003593	Infantile onset	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0410280	HP:0003593	Infantile onset	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	.	2
HP:0410280	HP:0011463	Childhood onset	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0410280	HP:0003621	Juvenile onset	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0410280	HP:0011463	Childhood onset	1	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V		1
HP:0410280	HP:0003621	Juvenile onset	1	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0410280	HP:0003621	Juvenile onset	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0410280	HP:0011463	Childhood onset	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0410280	HP:0003621	Juvenile onset	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0410280	HP:0003593	Infantile onset	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0410280	HP:0011463	Childhood onset	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0410280	HP:0003593	Infantile onset	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0410280	HP:0003621	Juvenile onset	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0410280	HP:0003593	Infantile onset	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL		55
HP:0410280	HP:0003621	Juvenile onset	1	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0410280	HP:0003593	Infantile onset	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0410280	HP:0011463	Childhood onset	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0410280	HP:0011463	Childhood onset	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0410280	HP:0003593	Infantile onset	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0410280	HP:0011463	Childhood onset	1	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0410280	HP:0003593	Infantile onset	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0410280	HP:0011463	Childhood onset	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0410280	HP:0003593	Infantile onset	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0410280	HP:0003621	Juvenile onset	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0410280	HP:0011463	Childhood onset	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0410280	HP:0003593	Infantile onset	1	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	.	1
HP:0410280	HP:0003593	Infantile onset	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0410280	HP:0003621	Juvenile onset	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0410280	HP:0003593	Infantile onset	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0410280	HP:0003593	Infantile onset	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57		5
HP:0410280	HP:0003621	Juvenile onset	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0410280	HP:0003593	Infantile onset	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0410280	HP:0003593	Infantile onset	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0410280	HP:0003621	Juvenile onset	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0410280	HP:0003593	Infantile onset	1	MCEE CL E G H	84693	16732	OMIM:251120	Methylmalonyl-Coa epimerase deficiency		19
HP:0410280	HP:0003621	Juvenile onset	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0410280	HP:0011463	Childhood onset	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0410280	HP:0011463	Childhood onset	1	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0410280	HP:0003621	Juvenile onset	1	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0410280	HP:0003621	Juvenile onset	1	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0410280	HP:0003593	Infantile onset	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0410280	HP:0003593	Infantile onset	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0410280	HP:0011463	Childhood onset	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.	950
HP:0410280	HP:0003593	Infantile onset	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0410280	HP:0011463	Childhood onset	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome		950
HP:0410280	HP:0003621	Juvenile onset	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0410280	HP:0011463	Childhood onset	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0410280	HP:0003593	Infantile onset	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0410280	HP:0003593	Infantile onset	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0410280	HP:0003593	Infantile onset	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0410280	HP:0003621	Juvenile onset	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0410280	HP:0003593	Infantile onset	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0410280	HP:0011463	Childhood onset	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0410280	HP:0003621	Juvenile onset	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0410280	HP:0011463	Childhood onset	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0410280	HP:0011463	Childhood onset	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38		75
HP:0410280	HP:0003593	Infantile onset	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44	.	13
HP:0410280	HP:0003593	Infantile onset	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.	17
HP:0410280	HP:0003593	Infantile onset	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0410280	HP:0003621	Juvenile onset	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.	120
HP:0410280	HP:0003621	Juvenile onset	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0410280	HP:0003593	Infantile onset	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0410280	HP:0003621	Juvenile onset	1	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0410280	HP:0003593	Infantile onset	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0410280	HP:0003593	Infantile onset	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0410280	HP:0003621	Juvenile onset	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0410280	HP:0003593	Infantile onset	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.	7
HP:0410280	HP:0003593	Infantile onset	1	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	112
HP:0410280	HP:0003593	Infantile onset	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0410280	HP:0011463	Childhood onset	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0410280	HP:0003621	Juvenile onset	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0410280	HP:0011463	Childhood onset	1	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3		7
HP:0410280	HP:0003593	Infantile onset	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0410280	HP:0003593	Infantile onset	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	HP:0040282 - Frequent	101
HP:0410280	HP:0003593	Infantile onset	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0410280	HP:0003593	Infantile onset	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive		6
HP:0410280	HP:0011463	Childhood onset	1	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0410280	HP:0003593	Infantile onset	1	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome		2
HP:0410280	HP:0011463	Childhood onset	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0410280	HP:0003593	Infantile onset	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0410280	HP:0003621	Juvenile onset	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0410280	HP:0003593	Infantile onset	1	MMP9 CL E G H	4318	7176	OMIM:613073	METAPHYSEAL ANADYSPLASIA 2; MANDP2		31
HP:0410280	HP:0003621	Juvenile onset	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0410280	HP:0011463	Childhood onset	1	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0410280	HP:0003621	Juvenile onset	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0410280	HP:0003593	Infantile onset	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0410280	HP:0003593	Infantile onset	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0410280	HP:0003621	Juvenile onset	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.	56
HP:0410280	HP:0003593	Infantile onset	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0410280	HP:0003621	Juvenile onset	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0410280	HP:0003593	Infantile onset	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0410280	HP:0003593	Infantile onset	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0410280	HP:0003621	Juvenile onset	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0410280	HP:0003621	Juvenile onset	1	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0410280	HP:0011463	Childhood onset	1	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0410280	HP:0003593	Infantile onset	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0410280	HP:0003593	Infantile onset	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.	13
HP:0410280	HP:0003593	Infantile onset	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36	.
HP:0410280	HP:0003593	Infantile onset	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0410280	HP:0003593	Infantile onset	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0410280	HP:0003593	Infantile onset	1	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.	12
HP:0410280	HP:0011463	Childhood onset	1	MS4A1 CL E G H	931	7315	OMIM:613495	Immunodeficiency, common variable, 5		1
HP:0410280	HP:0003621	Juvenile onset	1	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0410280	HP:0011463	Childhood onset	1	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis		3
HP:0410280	HP:0011463	Childhood onset	1	MSX1 CL E G H	4487	7391	OMIM:106600	Tooth agenesis, selective, 1		12
HP:0410280	HP:0003593	Infantile onset	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27	.	29
HP:0410280	HP:0011463	Childhood onset	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0410280	HP:0003593	Infantile onset	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0410280	HP:0003593	Infantile onset	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0410280	HP:0003593	Infantile onset	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0410280	HP:0011463	Childhood onset	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0410280	HP:0003621	Juvenile onset	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0410280	HP:0003593	Infantile onset	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0410280	HP:0003593	Infantile onset	1	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0410280	HP:0003593	Infantile onset	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0410280	HP:0011463	Childhood onset	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0410280	HP:0003593	Infantile onset	1	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.	72
HP:0410280	HP:0003593	Infantile onset	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0410280	HP:0003593	Infantile onset	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0410280	HP:0003621	Juvenile onset	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0410280	HP:0003621	Juvenile onset	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0410280	HP:0003621	Juvenile onset	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0410280	HP:0003593	Infantile onset	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0410280	HP:0011463	Childhood onset	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0410280	HP:0011463	Childhood onset	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0410280	HP:0003593	Infantile onset	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0410280	HP:0011463	Childhood onset	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0410280	HP:0003621	Juvenile onset	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0410280	HP:0003621	Juvenile onset	1	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17	.	297
HP:0410280	HP:0003621	Juvenile onset	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0410280	HP:0003593	Infantile onset	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0410280	HP:0003621	Juvenile onset	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0410280	HP:0003593	Infantile onset	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0410280	HP:0003593	Infantile onset	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.	35
HP:0410280	HP:0003593	Infantile onset	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0410280	HP:0011463	Childhood onset	1	MYO5B CL E G H	4645	7603	OMIM:619868			192
HP:0410280	HP:0003593	Infantile onset	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I		516
HP:0410280	HP:0003621	Juvenile onset	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0410280	HP:0003621	Juvenile onset	1	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0410280	HP:0003621	Juvenile onset	1	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0410280	HP:0003621	Juvenile onset	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0410280	HP:0011463	Childhood onset	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0410280	HP:0003593	Infantile onset	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0410280	HP:0003593	Infantile onset	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0410280	HP:0003593	Infantile onset	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		1
HP:0410280	HP:0003593	Infantile onset	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.	47
HP:0410280	HP:0003621	Juvenile onset	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0410280	HP:0003593	Infantile onset	1	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0410280	HP:0003593	Infantile onset	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0410280	HP:0003593	Infantile onset	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0410280	HP:0011463	Childhood onset	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0410280	HP:0003593	Infantile onset	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0410280	HP:0003593	Infantile onset	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0410280	HP:0011463	Childhood onset	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0410280	HP:0003593	Infantile onset	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0410280	HP:0003593	Infantile onset	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0410280	HP:0011463	Childhood onset	1	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE		3
HP:0410280	HP:0003593	Infantile onset	1	NCDN CL E G H	23154	17597	OMIM:619373	NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0410280	HP:0003621	Juvenile onset	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0410280	HP:0003621	Juvenile onset	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0410280	HP:0003593	Infantile onset	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0410280	HP:0011463	Childhood onset	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0410280	HP:0003593	Infantile onset	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0410280	HP:0003593	Infantile onset	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease		39
HP:0410280	HP:0003621	Juvenile onset	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0410280	HP:0003593	Infantile onset	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0410280	HP:0011463	Childhood onset	1	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0410280	HP:0003593	Infantile onset	1	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.	91
HP:0410280	HP:0003593	Infantile onset	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0410280	HP:0003593	Infantile onset	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0410280	HP:0011463	Childhood onset	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0410280	HP:0003593	Infantile onset	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0410280	HP:0003593	Infantile onset	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0410280	HP:0003593	Infantile onset	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.	40
HP:0410280	HP:0003593	Infantile onset	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0410280	HP:0003621	Juvenile onset	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0410280	HP:0003593	Infantile onset	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0410280	HP:0011463	Childhood onset	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0410280	HP:0003593	Infantile onset	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0410280	HP:0003593	Infantile onset	1	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0410280	HP:0003593	Infantile onset	1	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24	.	16
HP:0410280	HP:0011463	Childhood onset	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0410280	HP:0003593	Infantile onset	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0410280	HP:0003593	Infantile onset	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0410280	HP:0003593	Infantile onset	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0410280	HP:0003621	Juvenile onset	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0410280	HP:0003593	Infantile onset	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0410280	HP:0003621	Juvenile onset	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0410280	HP:0003593	Infantile onset	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.	74
HP:0410280	HP:0003593	Infantile onset	1	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.	27
HP:0410280	HP:0003593	Infantile onset	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0410280	HP:0011463	Childhood onset	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0410280	HP:0003621	Juvenile onset	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0410280	HP:0003621	Juvenile onset	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0410280	HP:0003593	Infantile onset	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0410280	HP:0011463	Childhood onset	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0410280	HP:0011463	Childhood onset	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0410280	HP:0003593	Infantile onset	1	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0410280	HP:0003593	Infantile onset	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0410280	HP:0003593	Infantile onset	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0410280	HP:0003621	Juvenile onset	1	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20		167
HP:0410280	HP:0011463	Childhood onset	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0410280	HP:0003593	Infantile onset	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0410280	HP:0003593	Infantile onset	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	.	20
HP:0410280	HP:0011463	Childhood onset	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0410280	HP:0011463	Childhood onset	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0410280	HP:0003621	Juvenile onset	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0410280	HP:0011463	Childhood onset	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0410280	HP:0003593	Infantile onset	1	NFKBIA CL E G H	4792	7797	OMIM:612132	ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	.	27
HP:0410280	HP:0011463	Childhood onset	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0410280	HP:0003593	Infantile onset	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0410280	HP:0003593	Infantile onset	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	.	20
HP:0410280	HP:0003593	Infantile onset	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation	.	32
HP:0410280	HP:0003621	Juvenile onset	1	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0410280	HP:0003621	Juvenile onset	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2		27
HP:0410280	HP:0011463	Childhood onset	1	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary		51
HP:0410280	HP:0003593	Infantile onset	1	NKX2-1 CL E G H	7080	11825	OMIM:118700	Chorea, benign hereditary		51
HP:0410280	HP:0011463	Childhood onset	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0410280	HP:0003593	Infantile onset	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0410280	HP:0003621	Juvenile onset	1	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0410280	HP:0011463	Childhood onset	1	NLGN3 CL E G H	54413	14289	OMIM:300425	Autism susceptibility, X-linked 1	.	24
HP:0410280	HP:0003621	Juvenile onset	1	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0410280	HP:0011463	Childhood onset	1	NLGN4X CL E G H	57502	14287	OMIM:300495	Autism, susceptibility to, X-linked 2	.	57
HP:0410280	HP:0003593	Infantile onset	1	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4		30
HP:0410280	HP:0003593	Infantile onset	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0410280	HP:0003593	Infantile onset	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0410280	HP:0011463	Childhood onset	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0410280	HP:0003593	Infantile onset	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0410280	HP:0003593	Infantile onset	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1		217
HP:0410280	HP:0003621	Juvenile onset	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0410280	HP:0011463	Childhood onset	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0410280	HP:0003621	Juvenile onset	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0410280	HP:0003593	Infantile onset	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0410280	HP:0011463	Childhood onset	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0410280	HP:0003593	Infantile onset	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0410280	HP:0003593	Infantile onset	1	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22		4
HP:0410280	HP:0003593	Infantile onset	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0410280	HP:0003621	Juvenile onset	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0410280	HP:0011463	Childhood onset	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0410280	HP:0003621	Juvenile onset	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0410280	HP:0003593	Infantile onset	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0410280	HP:0003621	Juvenile onset	1	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0410280	HP:0011463	Childhood onset	1	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2		69
HP:0410280	HP:0011463	Childhood onset	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0410280	HP:0003593	Infantile onset	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0410280	HP:0003621	Juvenile onset	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0410280	HP:0003593	Infantile onset	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0410280	HP:0003593	Infantile onset	1	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0410280	HP:0011463	Childhood onset	1	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0410280	HP:0003621	Juvenile onset	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0410280	HP:0011463	Childhood onset	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0410280	HP:0003593	Infantile onset	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0410280	HP:0003593	Infantile onset	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0410280	HP:0003593	Infantile onset	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0410280	HP:0003593	Infantile onset	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0410280	HP:0003593	Infantile onset	1	NTRK1 CL E G H	4914	8031	OMIM:256800	Insensitivity to pain, congenital, with anhidrosis	.	97
HP:0410280	HP:0011463	Childhood onset	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0410280	HP:0003621	Juvenile onset	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0410280	HP:0003621	Juvenile onset	1	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0410280	HP:0011463	Childhood onset	1	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0410280	HP:0003593	Infantile onset	1	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.	1
HP:0410280	HP:0011463	Childhood onset	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile		7
HP:0410280	HP:0003593	Infantile onset	1	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile		7
HP:0410280	HP:0011463	Childhood onset	1	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0410280	HP:0003593	Infantile onset	1	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia		2
HP:0410280	HP:0011463	Childhood onset	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency		94
HP:0410280	HP:0003593	Infantile onset	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0410280	HP:0011463	Childhood onset	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2	.	88
HP:0410280	HP:0011463	Childhood onset	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0410280	HP:0003621	Juvenile onset	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0410280	HP:0003593	Infantile onset	1	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0410280	HP:0003593	Infantile onset	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0410280	HP:0003621	Juvenile onset	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0410280	HP:0011463	Childhood onset	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0410280	HP:0003593	Infantile onset	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0410280	HP:0011463	Childhood onset	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0410280	HP:0003593	Infantile onset	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0410280	HP:0003593	Infantile onset	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0410280	HP:0003621	Juvenile onset	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0410280	HP:0011463	Childhood onset	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0410280	HP:0003593	Infantile onset	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0410280	HP:0003621	Juvenile onset	1	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0410280	HP:0003593	Infantile onset	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0410280	HP:0011463	Childhood onset	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0410280	HP:0003593	Infantile onset	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0410280	HP:0003593	Infantile onset	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0410280	HP:0011463	Childhood onset	1	PADI3 CL E G H	51702	18337	OMIM:191480	UNCOMBABLE HAIR SYNDROME 1; UHS1		3
HP:0410280	HP:0003593	Infantile onset	1	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0410280	HP:0003621	Juvenile onset	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0410280	HP:0003593	Infantile onset	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0410280	HP:0011463	Childhood onset	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0410280	HP:0003621	Juvenile onset	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0410280	HP:0011463	Childhood onset	1	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0410280	HP:0003621	Juvenile onset	1	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0410280	HP:0003621	Juvenile onset	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0410280	HP:0003593	Infantile onset	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.	26
HP:0410280	HP:0003621	Juvenile onset	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0410280	HP:0003621	Juvenile onset	1	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0410280	HP:0003593	Infantile onset	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0410280	HP:0003593	Infantile onset	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0410280	HP:0003593	Infantile onset	1	PCDH15 CL E G H	65217	14674	OMIM:609533	Deafness, autosomal recessive 23	.	352
HP:0410280	HP:0003593	Infantile onset	1	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.	225
HP:0410280	HP:0003593	Infantile onset	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0410280	HP:0003593	Infantile onset	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0410280	HP:0003621	Juvenile onset	1	PDCD10 CL E G H	11235	8761	OMIM:603285	Cerebral cavernous malformations 3		21
HP:0410280	HP:0003593	Infantile onset	1	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	.	5
HP:0410280	HP:0003621	Juvenile onset	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0410280	HP:0003593	Infantile onset	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0410280	HP:0011463	Childhood onset	1	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40		126
HP:0410280	HP:0011463	Childhood onset	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0410280	HP:0003621	Juvenile onset	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A		14
HP:0410280	HP:0011463	Childhood onset	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0410280	HP:0011463	Childhood onset	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0410280	HP:0003621	Juvenile onset	1	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0410280	HP:0003593	Infantile onset	1	PDGFRB CL E G H	5159	8804	OMIM:228550	Myofibromatosis, infantile, 1		28
HP:0410280	HP:0003593	Infantile onset	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0410280	HP:0003593	Infantile onset	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency	.	52
HP:0410280	HP:0003593	Infantile onset	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0410280	HP:0011463	Childhood onset	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0410280	HP:0003593	Infantile onset	1	PERP CL E G H	64065	17637	OMIM:619208	OLMSTED SYNDROME 2; OLMS2
HP:0410280	HP:0003593	Infantile onset	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0410280	HP:0003621	Juvenile onset	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0410280	HP:0011463	Childhood onset	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0410280	HP:0003593	Infantile onset	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0410280	HP:0003621	Juvenile onset	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0410280	HP:0011463	Childhood onset	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0410280	HP:0003593	Infantile onset	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0410280	HP:0011463	Childhood onset	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0410280	HP:0003593	Infantile onset	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0410280	HP:0011463	Childhood onset	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0410280	HP:0003593	Infantile onset	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0410280	HP:0003593	Infantile onset	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0410280	HP:0003621	Juvenile onset	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency		21
HP:0410280	HP:0003593	Infantile onset	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0410280	HP:0003593	Infantile onset	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0410280	HP:0003621	Juvenile onset	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0410280	HP:0003593	Infantile onset	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0410280	HP:0011463	Childhood onset	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0410280	HP:0003593	Infantile onset	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0410280	HP:0011463	Childhood onset	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb		101
HP:0410280	HP:0003621	Juvenile onset	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0410280	HP:0011463	Childhood onset	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0410280	HP:0003593	Infantile onset	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0410280	HP:0003593	Infantile onset	1	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease		86
HP:0410280	HP:0003593	Infantile onset	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0410280	HP:0011463	Childhood onset	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0410280	HP:0003621	Juvenile onset	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0410280	HP:0003593	Infantile onset	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0410280	HP:0003593	Infantile onset	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0410280	HP:0011463	Childhood onset	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0410280	HP:0003621	Juvenile onset	1	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0410280	HP:0003593	Infantile onset	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0410280	HP:0003593	Infantile onset	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0410280	HP:0003593	Infantile onset	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0410280	HP:0003593	Infantile onset	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0410280	HP:0011463	Childhood onset	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0410280	HP:0003593	Infantile onset	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0410280	HP:0003593	Infantile onset	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0410280	HP:0003593	Infantile onset	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0410280	HP:0011463	Childhood onset	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0410280	HP:0003621	Juvenile onset	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0410280	HP:0003593	Infantile onset	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0410280	HP:0003621	Juvenile onset	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0410280	HP:0003593	Infantile onset	1	PIK3R1 CL E G H	5295	8979	OMIM:615214	Agammaglobulinemia 7, autosomal recessive	.	43
HP:0410280	HP:0011463	Childhood onset	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0410280	HP:0003593	Infantile onset	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0410280	HP:0003621	Juvenile onset	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0410280	HP:0003621	Juvenile onset	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0410280	HP:0003593	Infantile onset	1	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0410280	HP:0011463	Childhood onset	1	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5		135
HP:0410280	HP:0003593	Infantile onset	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0410280	HP:0011463	Childhood onset	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0410280	HP:0003621	Juvenile onset	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0410280	HP:0011463	Childhood onset	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0410280	HP:0003593	Infantile onset	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease		563
HP:0410280	HP:0011463	Childhood onset	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells		51
HP:0410280	HP:0011463	Childhood onset	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0410280	HP:0011463	Childhood onset	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0410280	HP:0003621	Juvenile onset	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0410280	HP:0003593	Infantile onset	1	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12		119
HP:0410280	HP:0011463	Childhood onset	1	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.	118
HP:0410280	HP:0003593	Infantile onset	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.	21
HP:0410280	HP:0011463	Childhood onset	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0410280	HP:0003593	Infantile onset	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0410280	HP:0011463	Childhood onset	1	PLEC CL E G H	5339	9069	OMIM:616487	Epidermolysis bullosa simplex with nail dystrophy		759
HP:0410280	HP:0011463	Childhood onset	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q		759
HP:0410280	HP:0003593	Infantile onset	1	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	.	3
HP:0410280	HP:0003621	Juvenile onset	1	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0410280	HP:0011463	Childhood onset	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0410280	HP:0011463	Childhood onset	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0410280	HP:0003593	Infantile onset	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0410280	HP:0003593	Infantile onset	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0410280	HP:0003621	Juvenile onset	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0410280	HP:0011463	Childhood onset	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0410280	HP:0003593	Infantile onset	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked		60
HP:0410280	HP:0003593	Infantile onset	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0410280	HP:0011463	Childhood onset	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0410280	HP:0011463	Childhood onset	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0410280	HP:0003593	Infantile onset	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0410280	HP:0003621	Juvenile onset	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0410280	HP:0011463	Childhood onset	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0410280	HP:0003621	Juvenile onset	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0410280	HP:0003621	Juvenile onset	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0410280	HP:0003593	Infantile onset	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0410280	HP:0003621	Juvenile onset	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0410280	HP:0003621	Juvenile onset	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0410280	HP:0003593	Infantile onset	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0410280	HP:0003621	Juvenile onset	1	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types		3
HP:0410280	HP:0003593	Infantile onset	1	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0410280	HP:0011463	Childhood onset	1	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0410280	HP:0003593	Infantile onset	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0410280	HP:0003621	Juvenile onset	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	.	103
HP:0410280	HP:0003593	Infantile onset	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0410280	HP:0003593	Infantile onset	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0410280	HP:0011463	Childhood onset	1	PNPT1 CL E G H	87178	23166	OMIM:614934	DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70		60
HP:0410280	HP:0003593	Infantile onset	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0410280	HP:0011463	Childhood onset	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0410280	HP:0003593	Infantile onset	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0410280	HP:0011463	Childhood onset	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0410280	HP:0003621	Juvenile onset	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0410280	HP:0003593	Infantile onset	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0410280	HP:0003621	Juvenile onset	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0410280	HP:0003593	Infantile onset	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0410280	HP:0003621	Juvenile onset	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0410280	HP:0011463	Childhood onset	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0410280	HP:0003593	Infantile onset	1	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0410280	HP:0003621	Juvenile onset	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0410280	HP:0003593	Infantile onset	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0410280	HP:0011463	Childhood onset	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0410280	HP:0011463	Childhood onset	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0410280	HP:0003593	Infantile onset	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0410280	HP:0003621	Juvenile onset	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0410280	HP:0011463	Childhood onset	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0410280	HP:0003593	Infantile onset	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0410280	HP:0011463	Childhood onset	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0410280	HP:0003593	Infantile onset	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0410280	HP:0003593	Infantile onset	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0410280	HP:0011463	Childhood onset	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0410280	HP:0003593	Infantile onset	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0410280	HP:0003621	Juvenile onset	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0410280	HP:0003593	Infantile onset	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.	18
HP:0410280	HP:0003593	Infantile onset	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0410280	HP:0003593	Infantile onset	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0410280	HP:0003593	Infantile onset	1	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.	221
HP:0410280	HP:0003593	Infantile onset	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0410280	HP:0003593	Infantile onset	1	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile		8
HP:0410280	HP:0011463	Childhood onset	1	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile		8
HP:0410280	HP:0003621	Juvenile onset	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0410280	HP:0011463	Childhood onset	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0410280	HP:0003593	Infantile onset	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0410280	HP:0003593	Infantile onset	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0410280	HP:0003593	Infantile onset	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0410280	HP:0011463	Childhood onset	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0410280	HP:0011463	Childhood onset	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0410280	HP:0003593	Infantile onset	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0410280	HP:0003593	Infantile onset	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0410280	HP:0003621	Juvenile onset	1	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0410280	HP:0003593	Infantile onset	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	HP:0040282 - Frequent
HP:0410280	HP:0003621	Juvenile onset	1	PRDX3 CL E G H	10935	9354	OMIM:619871
HP:0410280	HP:0003621	Juvenile onset	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0410280	HP:0003593	Infantile onset	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0410280	HP:0003621	Juvenile onset	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0410280	HP:0011463	Childhood onset	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0410280	HP:0003621	Juvenile onset	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0410280	HP:0003593	Infantile onset	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0410280	HP:0003593	Infantile onset	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	.	42
HP:0410280	HP:0011463	Childhood onset	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0410280	HP:0003593	Infantile onset	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0410280	HP:0011463	Childhood onset	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0410280	HP:0003621	Juvenile onset	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0410280	HP:0003621	Juvenile onset	1	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0410280	HP:0011463	Childhood onset	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0410280	HP:0003621	Juvenile onset	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0410280	HP:0003593	Infantile onset	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0410280	HP:0011463	Childhood onset	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.	69
HP:0410280	HP:0003621	Juvenile onset	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0410280	HP:0003593	Infantile onset	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0410280	HP:0011463	Childhood onset	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0410280	HP:0011463	Childhood onset	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0410280	HP:0003621	Juvenile onset	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0410280	HP:0011463	Childhood onset	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.	49
HP:0410280	HP:0003593	Infantile onset	1	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2		94
HP:0410280	HP:0011463	Childhood onset	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1		73
HP:0410280	HP:0011463	Childhood onset	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0410280	HP:0003593	Infantile onset	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0410280	HP:0003593	Infantile onset	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0410280	HP:0011463	Childhood onset	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0410280	HP:0003593	Infantile onset	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0410280	HP:0003593	Infantile onset	1	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0410280	HP:0003621	Juvenile onset	1	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0410280	HP:0011463	Childhood onset	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0410280	HP:0003593	Infantile onset	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0410280	HP:0003593	Infantile onset	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0410280	HP:0003593	Infantile onset	1	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.	54
HP:0410280	HP:0003593	Infantile onset	1	PTCHD1 CL E G H	139411	26392	OMIM:300830	Autism, susceptibility to, X-linked 4	.	34
HP:0410280	HP:0003593	Infantile onset	1	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated		16
HP:0410280	HP:0003593	Infantile onset	1	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0410280	HP:0003593	Infantile onset	1	PTPRQ CL E G H	374462	9679	OMIM:613391	Deafness, autosomal recessive 84	.	7
HP:0410280	HP:0003593	Infantile onset	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0410280	HP:0003593	Infantile onset	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0410280	HP:0011463	Childhood onset	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0410280	HP:0003593	Infantile onset	1	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0410280	HP:0003593	Infantile onset	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0410280	HP:0011463	Childhood onset	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0410280	HP:0011463	Childhood onset	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0410280	HP:0003621	Juvenile onset	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0410280	HP:0003621	Juvenile onset	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0410280	HP:0003593	Infantile onset	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0410280	HP:0011463	Childhood onset	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0410280	HP:0003593	Infantile onset	1	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0410280	HP:0003593	Infantile onset	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0410280	HP:0003621	Juvenile onset	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0410280	HP:0011463	Childhood onset	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0410280	HP:0003593	Infantile onset	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0410280	HP:0011463	Childhood onset	1	RACGAP1 CL E G H	29127	9804	OMIM:619789	ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B
HP:0410280	HP:0011463	Childhood onset	1	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0410280	HP:0003621	Juvenile onset	1	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0410280	HP:0003593	Infantile onset	1	RAG1 CL E G H	5896	9831	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	127
HP:0410280	HP:0003593	Infantile onset	1	RAG2 CL E G H	5897	9832	OMIM:233650	Combined cellular and humoral immune defects with granulomas	.	50
HP:0410280	HP:0003593	Infantile onset	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0410280	HP:0003593	Infantile onset	1	RASGRP2 CL E G H	10235	9879	OMIM:615888	Bleeding disorder, platelet-type, 18	.	11
HP:0410280	HP:0011463	Childhood onset	1	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0410280	HP:0003593	Infantile onset	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0410280	HP:0003621	Juvenile onset	1	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0410280	HP:0011463	Childhood onset	1	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13		45
HP:0410280	HP:0003593	Infantile onset	1	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24	.	97
HP:0410280	HP:0011463	Childhood onset	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0410280	HP:0003621	Juvenile onset	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0410280	HP:0011463	Childhood onset	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0410280	HP:0003621	Juvenile onset	1	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0410280	HP:0003593	Infantile onset	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0410280	HP:0003621	Juvenile onset	1	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0410280	HP:0011463	Childhood onset	1	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0410280	HP:0003593	Infantile onset	1	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0410280	HP:0003593	Infantile onset	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0410280	HP:0003621	Juvenile onset	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0410280	HP:0003593	Infantile onset	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.	92
HP:0410280	HP:0003621	Juvenile onset	1	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0410280	HP:0011463	Childhood onset	1	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1		107
HP:0410280	HP:0011463	Childhood onset	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4		107
HP:0410280	HP:0003593	Infantile onset	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0410280	HP:0003593	Infantile onset	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0410280	HP:0003593	Infantile onset	1	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0410280	HP:0003621	Juvenile onset	1	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0410280	HP:0011463	Childhood onset	1	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0410280	HP:0003593	Infantile onset	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0410280	HP:0003593	Infantile onset	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0410280	HP:0011463	Childhood onset	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0410280	HP:0011463	Childhood onset	1	RMRP CL E G H	6023	10031	OMIM:250460	Metaphyseal dysplasia without hypotrichosis		37
HP:0410280	HP:0003593	Infantile onset	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0410280	HP:0003593	Infantile onset	1	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional	37
HP:0410280	HP:0011463	Childhood onset	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0410280	HP:0011463	Childhood onset	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0410280	HP:0003593	Infantile onset	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0410280	HP:0003593	Infantile onset	1	ROBO3 CL E G H	64221	13433	OMIM:607313	Gaze palsy, familial horizontal, with progressive scoliosis, 1		90
HP:0410280	HP:0003593	Infantile onset	1	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108	.	1
HP:0410280	HP:0003621	Juvenile onset	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0410280	HP:0003593	Infantile onset	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0410280	HP:0011463	Childhood onset	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0410280	HP:0003593	Infantile onset	1	RORC CL E G H	6097	10260	OMIM:616622	Immunodeficiency 42	.	5
HP:0410280	HP:0011463	Childhood onset	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0410280	HP:0003621	Juvenile onset	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0410280	HP:0011463	Childhood onset	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0410280	HP:0003621	Juvenile onset	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0410280	HP:0003621	Juvenile onset	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0410280	HP:0003593	Infantile onset	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0410280	HP:0011463	Childhood onset	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20		129
HP:0410280	HP:0011463	Childhood onset	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0410280	HP:0003593	Infantile onset	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0410280	HP:0003593	Infantile onset	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5	.	11
HP:0410280	HP:0003593	Infantile onset	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0410280	HP:0003593	Infantile onset	1	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9		26
HP:0410280	HP:0003621	Juvenile onset	1	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9		26
HP:0410280	HP:0003593	Infantile onset	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0410280	HP:0011463	Childhood onset	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0410280	HP:0003593	Infantile onset	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	.	20
HP:0410280	HP:0011463	Childhood onset	1	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13	.	3
HP:0410280	HP:0003593	Infantile onset	1	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13		3
HP:0410280	HP:0003593	Infantile onset	1	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital	.	9
HP:0410280	HP:0011463	Childhood onset	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0410280	HP:0011463	Childhood onset	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0410280	HP:0003593	Infantile onset	1	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70		2
HP:0410280	HP:0011463	Childhood onset	1	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10		2
HP:0410280	HP:0003593	Infantile onset	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0410280	HP:0003593	Infantile onset	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0410280	HP:0003593	Infantile onset	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0410280	HP:0003621	Juvenile onset	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0410280	HP:0011463	Childhood onset	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0410280	HP:0011463	Childhood onset	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0410280	HP:0003621	Juvenile onset	1	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0410280	HP:0011463	Childhood onset	1	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:0410280	HP:0003621	Juvenile onset	1	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:0410280	HP:0003593	Infantile onset	1	S1PR2 CL E G H	9294	3169	OMIM:610419	Deafness, autosomal recessive 68	.	2
HP:0410280	HP:0003593	Infantile onset	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0410280	HP:0011463	Childhood onset	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0410280	HP:0003621	Juvenile onset	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0410280	HP:0003593	Infantile onset	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.	8
HP:0410280	HP:0003593	Infantile onset	1	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0410280	HP:0003593	Infantile onset	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0410280	HP:0003593	Infantile onset	1	SASH1 CL E G H	23328	19182	OMIM:127500	Dyschromatosis universalis hereditaria	.	1
HP:0410280	HP:0011463	Childhood onset	1	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0410280	HP:0003593	Infantile onset	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0410280	HP:0003621	Juvenile onset	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0410280	HP:0011463	Childhood onset	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0410280	HP:0003621	Juvenile onset	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0410280	HP:0011463	Childhood onset	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0410280	HP:0003593	Infantile onset	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0410280	HP:0003593	Infantile onset	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)		1053
HP:0410280	HP:0011463	Childhood onset	1	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.	1053
HP:0410280	HP:0003621	Juvenile onset	1	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0410280	HP:0003593	Infantile onset	1	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.	427
HP:0410280	HP:0011463	Childhood onset	1	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4		70
HP:0410280	HP:0003593	Infantile onset	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0410280	HP:0011463	Childhood onset	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0410280	HP:0003593	Infantile onset	1	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	.	263
HP:0410280	HP:0003593	Infantile onset	1	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0410280	HP:0003593	Infantile onset	1	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.	263
HP:0410280	HP:0003593	Infantile onset	1	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	263
HP:0410280	HP:0011463	Childhood onset	1	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0410280	HP:0003621	Juvenile onset	1	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0410280	HP:0003621	Juvenile onset	1	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0410280	HP:0011463	Childhood onset	1	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3		1134
HP:0410280	HP:0003621	Juvenile onset	1	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3		1134
HP:0410280	HP:0011463	Childhood onset	1	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0410280	HP:0003621	Juvenile onset	1	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0410280	HP:0011463	Childhood onset	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia		357
HP:0410280	HP:0003593	Infantile onset	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0410280	HP:0003621	Juvenile onset	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0410280	HP:0003593	Infantile onset	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0410280	HP:0003621	Juvenile onset	1	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0410280	HP:0003593	Infantile onset	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0410280	HP:0003593	Infantile onset	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0410280	HP:0003593	Infantile onset	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0410280	HP:0003593	Infantile onset	1	SDHAF1 CL E G H	644096	33867	OMIM:619166	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2		16
HP:0410280	HP:0011463	Childhood onset	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0410280	HP:0003593	Infantile onset	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0410280	HP:0003593	Infantile onset	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0410280	HP:0011463	Childhood onset	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0410280	HP:0003621	Juvenile onset	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0410280	HP:0003593	Infantile onset	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0410280	HP:0003593	Infantile onset	1	SELENBP1 CL E G H	8991	10719	OMIM:618148	Extraoral halitosis due to MTO deficiency
HP:0410280	HP:0003593	Infantile onset	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.	144
HP:0410280	HP:0003593	Infantile onset	1	SEMA7A CL E G H	8482	10741	OMIM:619874			5
HP:0410280	HP:0003593	Infantile onset	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0410280	HP:0011463	Childhood onset	1	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1		64
HP:0410280	HP:0003593	Infantile onset	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0410280	HP:0003593	Infantile onset	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0410280	HP:0011463	Childhood onset	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0410280	HP:0003593	Infantile onset	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0410280	HP:0003593	Infantile onset	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0410280	HP:0003621	Juvenile onset	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0410280	HP:0011463	Childhood onset	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0410280	HP:0003621	Juvenile onset	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0410280	HP:0003621	Juvenile onset	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0410280	HP:0003621	Juvenile onset	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0410280	HP:0003593	Infantile onset	1	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0410280	HP:0003621	Juvenile onset	1	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0410280	HP:0011463	Childhood onset	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0410280	HP:0003621	Juvenile onset	1	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0410280	HP:0003621	Juvenile onset	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0410280	HP:0011463	Childhood onset	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0410280	HP:0003621	Juvenile onset	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0410280	HP:0003593	Infantile onset	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0410280	HP:0011463	Childhood onset	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0410280	HP:0011463	Childhood onset	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA		97
HP:0410280	HP:0011463	Childhood onset	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0410280	HP:0011463	Childhood onset	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0410280	HP:0003621	Juvenile onset	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0410280	HP:0003621	Juvenile onset	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0410280	HP:0011463	Childhood onset	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0410280	HP:0003593	Infantile onset	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0410280	HP:0003621	Juvenile onset	1	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15		53
HP:0410280	HP:0003593	Infantile onset	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0410280	HP:0003593	Infantile onset	1	SHQ1 CL E G H	55164	25543	OMIM:619921
HP:0410280	HP:0003593	Infantile onset	1	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital		98
HP:0410280	HP:0003593	Infantile onset	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0410280	HP:0011463	Childhood onset	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0410280	HP:0003593	Infantile onset	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0410280	HP:0003593	Infantile onset	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0410280	HP:0003621	Juvenile onset	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.	145
HP:0410280	HP:0003593	Infantile onset	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0410280	HP:0003593	Infantile onset	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0410280	HP:0011463	Childhood onset	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0410280	HP:0003621	Juvenile onset	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0410280	HP:0011463	Childhood onset	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0410280	HP:0003621	Juvenile onset	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0410280	HP:0003593	Infantile onset	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0410280	HP:0011463	Childhood onset	1	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0410280	HP:0003621	Juvenile onset	1	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type		3
HP:0410280	HP:0003593	Infantile onset	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0410280	HP:0003621	Juvenile onset	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0410280	HP:0011463	Childhood onset	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0410280	HP:0003621	Juvenile onset	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0410280	HP:0011463	Childhood onset	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0410280	HP:0003621	Juvenile onset	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0410280	HP:0003593	Infantile onset	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41		3
HP:0410280	HP:0003593	Infantile onset	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6		63
HP:0410280	HP:0003593	Infantile onset	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0410280	HP:0011463	Childhood onset	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0410280	HP:0011463	Childhood onset	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0410280	HP:0003593	Infantile onset	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic		28
HP:0410280	HP:0003593	Infantile onset	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.	44
HP:0410280	HP:0011463	Childhood onset	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)		36
HP:0410280	HP:0003621	Juvenile onset	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)		36
HP:0410280	HP:0003593	Infantile onset	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0410280	HP:0003593	Infantile onset	1	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.	41
HP:0410280	HP:0003593	Infantile onset	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0410280	HP:0003621	Juvenile onset	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0410280	HP:0003593	Infantile onset	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0410280	HP:0003593	Infantile onset	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0410280	HP:0003621	Juvenile onset	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0410280	HP:0011463	Childhood onset	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0410280	HP:0003593	Infantile onset	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0410280	HP:0003593	Infantile onset	1	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.	48
HP:0410280	HP:0003621	Juvenile onset	1	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0410280	HP:0011463	Childhood onset	1	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0410280	HP:0003593	Infantile onset	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0410280	HP:0003593	Infantile onset	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0410280	HP:0003621	Juvenile onset	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0410280	HP:0003593	Infantile onset	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0410280	HP:0003593	Infantile onset	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0410280	HP:0011463	Childhood onset	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0410280	HP:0003593	Infantile onset	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0410280	HP:0003593	Infantile onset	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0410280	HP:0003621	Juvenile onset	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0410280	HP:0011463	Childhood onset	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0410280	HP:0003593	Infantile onset	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0410280	HP:0003621	Juvenile onset	1	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant		2
HP:0410280	HP:0011463	Childhood onset	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0410280	HP:0003593	Infantile onset	1	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0410280	HP:0003593	Infantile onset	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0410280	HP:0003593	Infantile onset	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0410280	HP:0003621	Juvenile onset	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0410280	HP:0011463	Childhood onset	1	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation		89
HP:0410280	HP:0003593	Infantile onset	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0410280	HP:0003621	Juvenile onset	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0410280	HP:0003621	Juvenile onset	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0410280	HP:0003593	Infantile onset	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0410280	HP:0003593	Infantile onset	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0410280	HP:0003621	Juvenile onset	1	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA		9
HP:0410280	HP:0003621	Juvenile onset	1	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0410280	HP:0003593	Infantile onset	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0410280	HP:0003593	Infantile onset	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0410280	HP:0003593	Infantile onset	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0410280	HP:0003621	Juvenile onset	1	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0410280	HP:0003593	Infantile onset	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0410280	HP:0003621	Juvenile onset	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0410280	HP:0003593	Infantile onset	1	SLURP1 CL E G H	57152	18746	OMIM:248300	Meleda disease	.	15
HP:0410280	HP:0003621	Juvenile onset	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0410280	HP:0003593	Infantile onset	1	SMARCA4 CL E G H	6597	11100	OMIM:613325	Rhabdoid tumor predisposition syndrome 2		617
HP:0410280	HP:0003593	Infantile onset	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0410280	HP:0003593	Infantile onset	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0410280	HP:0003621	Juvenile onset	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0410280	HP:0003621	Juvenile onset	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0410280	HP:0003593	Infantile onset	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0410280	HP:0011463	Childhood onset	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0410280	HP:0003621	Juvenile onset	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0410280	HP:0011463	Childhood onset	1	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4	.	12
HP:0410280	HP:0003593	Infantile onset	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0410280	HP:0011463	Childhood onset	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0410280	HP:0003593	Infantile onset	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0410280	HP:0003621	Juvenile onset	1	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0410280	HP:0011463	Childhood onset	1	SNRPN CL E G H	6638	11164	OMIM:209850	Autism susceptibility 1	.	37
HP:0410280	HP:0011463	Childhood onset	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0410280	HP:0003593	Infantile onset	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0410280	HP:0003593	Infantile onset	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus		29
HP:0410280	HP:0011463	Childhood onset	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0410280	HP:0003621	Juvenile onset	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0410280	HP:0003593	Infantile onset	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0410280	HP:0003593	Infantile onset	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0410280	HP:0003593	Infantile onset	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0410280	HP:0011463	Childhood onset	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0410280	HP:0003593	Infantile onset	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0410280	HP:0003593	Infantile onset	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0410280	HP:0003593	Infantile onset	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0410280	HP:0011463	Childhood onset	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0410280	HP:0003593	Infantile onset	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome		19
HP:0410280	HP:0011463	Childhood onset	1	SPATA5L1 CL E G H	79029	28762	OMIM:619615	DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119
HP:0410280	HP:0003593	Infantile onset	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0410280	HP:0003593	Infantile onset	1	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3		48
HP:0410280	HP:0003593	Infantile onset	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.	20
HP:0410280	HP:0003621	Juvenile onset	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0410280	HP:0011463	Childhood onset	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0410280	HP:0003621	Juvenile onset	1	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0410280	HP:0003593	Infantile onset	1	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0410280	HP:0003593	Infantile onset	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0410280	HP:0003593	Infantile onset	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0410280	HP:0003593	Infantile onset	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	HP:0040283 - Occasional	126
HP:0410280	HP:0003593	Infantile onset	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	.	126
HP:0410280	HP:0003621	Juvenile onset	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0410280	HP:0011463	Childhood onset	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0410280	HP:0003593	Infantile onset	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0410280	HP:0003593	Infantile onset	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0410280	HP:0003593	Infantile onset	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0410280	HP:0003593	Infantile onset	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0410280	HP:0003621	Juvenile onset	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0410280	HP:0011463	Childhood onset	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0410280	HP:0011463	Childhood onset	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0410280	HP:0003593	Infantile onset	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44		9
HP:0410280	HP:0011463	Childhood onset	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0410280	HP:0003621	Juvenile onset	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0410280	HP:0003593	Infantile onset	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0410280	HP:0003593	Infantile onset	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0410280	HP:0003593	Infantile onset	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0410280	HP:0011463	Childhood onset	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0410280	HP:0003593	Infantile onset	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0410280	HP:0011463	Childhood onset	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0410280	HP:0003593	Infantile onset	1	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0410280	HP:0011463	Childhood onset	1	STS CL E G H	412	11425	OMIM:308100	Ichthyosis, X-linked		19
HP:0410280	HP:0003593	Infantile onset	1	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw		21
HP:0410280	HP:0003621	Juvenile onset	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0410280	HP:0003593	Infantile onset	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0410280	HP:0011463	Childhood onset	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0410280	HP:0003593	Infantile onset	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0410280	HP:0011463	Childhood onset	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0410280	HP:0003593	Infantile onset	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0410280	HP:0003593	Infantile onset	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0410280	HP:0011463	Childhood onset	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0410280	HP:0003593	Infantile onset	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0410280	HP:0003593	Infantile onset	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0410280	HP:0003593	Infantile onset	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0410280	HP:0003593	Infantile onset	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0410280	HP:0011463	Childhood onset	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0410280	HP:0003621	Juvenile onset	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0410280	HP:0003593	Infantile onset	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0410280	HP:0003593	Infantile onset	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0410280	HP:0011463	Childhood onset	1	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.	1129
HP:0410280	HP:0011463	Childhood onset	1	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	.	508
HP:0410280	HP:0003593	Infantile onset	1	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5		108
HP:0410280	HP:0003593	Infantile onset	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0410280	HP:0011463	Childhood onset	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0410280	HP:0011463	Childhood onset	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0410280	HP:0003621	Juvenile onset	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0410280	HP:0011463	Childhood onset	1	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.	42
HP:0410280	HP:0003593	Infantile onset	1	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60		2
HP:0410280	HP:0003593	Infantile onset	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0410280	HP:0003593	Infantile onset	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0410280	HP:0003593	Infantile onset	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0410280	HP:0003593	Infantile onset	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0410280	HP:0011463	Childhood onset	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0410280	HP:0003593	Infantile onset	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.	271
HP:0410280	HP:0003593	Infantile onset	1	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile	.	271
HP:0410280	HP:0011463	Childhood onset	1	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0410280	HP:0003593	Infantile onset	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0410280	HP:0003593	Infantile onset	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0410280	HP:0011463	Childhood onset	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0410280	HP:0003593	Infantile onset	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0410280	HP:0003621	Juvenile onset	1	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0410280	HP:0003593	Infantile onset	1	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0410280	HP:0003593	Infantile onset	1	TBL1XR1 CL E G H	79718	29529	OMIM:616944	Mental retardation, autosomal dominant 41		22
HP:0410280	HP:0003593	Infantile onset	1	TBR1 CL E G H	10716	11590	OMIM:606053	Intellectual developmental disorder with autism and speech delay	.	1
HP:0410280	HP:0003621	Juvenile onset	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0410280	HP:0011463	Childhood onset	1	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0410280	HP:0003593	Infantile onset	1	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0410280	HP:0003593	Infantile onset	1	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0410280	HP:0003593	Infantile onset	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0410280	HP:0003593	Infantile onset	1	TCF3 CL E G H	6929	11633	OMIM:616941	Agammaglobulinemia 8, autosomal dominant	.	2
HP:0410280	HP:0003593	Infantile onset	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0410280	HP:0011463	Childhood onset	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0410280	HP:0003621	Juvenile onset	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0410280	HP:0011463	Childhood onset	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0410280	HP:0003593	Infantile onset	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0410280	HP:0003593	Infantile onset	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0410280	HP:0003593	Infantile onset	1	TECR CL E G H	9524	4551	OMIM:614020	Mental retardation, autosomal recessive 14		17
HP:0410280	HP:0003621	Juvenile onset	1	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0410280	HP:0011463	Childhood onset	1	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0410280	HP:0003621	Juvenile onset	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0410280	HP:0003593	Infantile onset	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0410280	HP:0011463	Childhood onset	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive		18
HP:0410280	HP:0003621	Juvenile onset	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0410280	HP:0011463	Childhood onset	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0410280	HP:0003593	Infantile onset	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0410280	HP:0003621	Juvenile onset	1	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1		85
HP:0410280	HP:0003621	Juvenile onset	1	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0410280	HP:0003593	Infantile onset	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type		58
HP:0410280	HP:0003621	Juvenile onset	1	TGFBR1 CL E G H	7046	11772	OMIM:132800	Multiple self-healing squamous epithelioma		239
HP:0410280	HP:0003593	Infantile onset	1	TGM3 CL E G H	7053	11779	OMIM:617251	Uncombable hair syndrome 2	.	1
HP:0410280	HP:0003593	Infantile onset	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0410280	HP:0003621	Juvenile onset	1	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0410280	HP:0003593	Infantile onset	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0410280	HP:0011463	Childhood onset	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0410280	HP:0003621	Juvenile onset	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0410280	HP:0003593	Infantile onset	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0410280	HP:0011463	Childhood onset	1	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0410280	HP:0003593	Infantile onset	1	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0410280	HP:0003621	Juvenile onset	1	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0410280	HP:0003593	Infantile onset	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX		1
HP:0410280	HP:0011463	Childhood onset	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0410280	HP:0003593	Infantile onset	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0410280	HP:0003621	Juvenile onset	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0410280	HP:0011463	Childhood onset	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0410280	HP:0011463	Childhood onset	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome		60
HP:0410280	HP:0003593	Infantile onset	1	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4		149
HP:0410280	HP:0003593	Infantile onset	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0410280	HP:0011463	Childhood onset	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0410280	HP:0003621	Juvenile onset	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0410280	HP:0003593	Infantile onset	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0410280	HP:0003621	Juvenile onset	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0410280	HP:0003621	Juvenile onset	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0410280	HP:0003593	Infantile onset	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0410280	HP:0003621	Juvenile onset	1	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7		109
HP:0410280	HP:0003593	Infantile onset	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0410280	HP:0011463	Childhood onset	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0410280	HP:0011463	Childhood onset	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0410280	HP:0003593	Infantile onset	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0410280	HP:0003621	Juvenile onset	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0410280	HP:0003593	Infantile onset	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0410280	HP:0011463	Childhood onset	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0410280	HP:0003593	Infantile onset	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0410280	HP:0011463	Childhood onset	1	TMPRSS3 CL E G H	64699	11877	OMIM:601072	DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8		111
HP:0410280	HP:0003593	Infantile onset	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0410280	HP:0003593	Infantile onset	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0410280	HP:0003621	Juvenile onset	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0410280	HP:0011463	Childhood onset	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0410280	HP:0003593	Infantile onset	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0410280	HP:0003593	Infantile onset	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0410280	HP:0003593	Infantile onset	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0410280	HP:0003621	Juvenile onset	1	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16	.	2
HP:0410280	HP:0003593	Infantile onset	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0410280	HP:0003593	Infantile onset	1	TNIK CL E G H	23043	30765	OMIM:617028	Mental retardation, autosomal recessive 54		2
HP:0410280	HP:0003621	Juvenile onset	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0410280	HP:0003621	Juvenile onset	1	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0410280	HP:0003593	Infantile onset	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0410280	HP:0003621	Juvenile onset	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0410280	HP:0003593	Infantile onset	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0410280	HP:0003621	Juvenile onset	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0410280	HP:0003593	Infantile onset	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0410280	HP:0003593	Infantile onset	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0410280	HP:0003621	Juvenile onset	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0410280	HP:0003593	Infantile onset	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0410280	HP:0003621	Juvenile onset	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0410280	HP:0003593	Infantile onset	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0410280	HP:0011463	Childhood onset	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0410280	HP:0011463	Childhood onset	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0410280	HP:0003593	Infantile onset	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)		21
HP:0410280	HP:0011463	Childhood onset	1	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y		230
HP:0410280	HP:0011463	Childhood onset	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0410280	HP:0003621	Juvenile onset	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0410280	HP:0003621	Juvenile onset	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0410280	HP:0003593	Infantile onset	1	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A		92
HP:0410280	HP:0003621	Juvenile onset	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0410280	HP:0003593	Infantile onset	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0410280	HP:0011463	Childhood onset	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0410280	HP:0011463	Childhood onset	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0410280	HP:0003593	Infantile onset	1	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0410280	HP:0011463	Childhood onset	1	TRAPPC10 CL E G H	7109	11868	OMIM:620027			1
HP:0410280	HP:0003593	Infantile onset	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0410280	HP:0003593	Infantile onset	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0410280	HP:0011463	Childhood onset	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0410280	HP:0003593	Infantile onset	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.	158
HP:0410280	HP:0011463	Childhood onset	1	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:0410280	HP:0003621	Juvenile onset	1	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:0410280	HP:0003593	Infantile onset	1	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5		145
HP:0410280	HP:0011463	Childhood onset	1	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5		145
HP:0410280	HP:0011463	Childhood onset	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0410280	HP:0003593	Infantile onset	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0410280	HP:0003593	Infantile onset	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0410280	HP:0003593	Infantile onset	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0410280	HP:0011463	Childhood onset	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0410280	HP:0003593	Infantile onset	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0410280	HP:0003593	Infantile onset	1	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28	.	154
HP:0410280	HP:0003593	Infantile onset	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0410280	HP:0011463	Childhood onset	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0410280	HP:0003593	Infantile onset	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.	12
HP:0410280	HP:0003593	Infantile onset	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0410280	HP:0003593	Infantile onset	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0410280	HP:0003593	Infantile onset	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0410280	HP:0003593	Infantile onset	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0410280	HP:0011463	Childhood onset	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0410280	HP:0003593	Infantile onset	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0410280	HP:0003593	Infantile onset	1	TRPA1 CL E G H	8989	497	OMIM:615040	Episodic pain syndrome, familial, 1	.	1
HP:0410280	HP:0003593	Infantile onset	1	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal	.	85
HP:0410280	HP:0003621	Juvenile onset	1	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0410280	HP:0011463	Childhood onset	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0410280	HP:0003593	Infantile onset	1	TRPV4 CL E G H	59341	18083	OMIM:168400	Parastremmatic dwarfism		214
HP:0410280	HP:0003593	Infantile onset	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0410280	HP:0003621	Juvenile onset	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0410280	HP:0011463	Childhood onset	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0410280	HP:0011463	Childhood onset	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0410280	HP:0003593	Infantile onset	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0410280	HP:0003593	Infantile onset	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0410280	HP:0003593	Infantile onset	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0410280	HP:0003593	Infantile onset	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0410280	HP:0003593	Infantile onset	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0410280	HP:0003593	Infantile onset	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0410280	HP:0003593	Infantile onset	1	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0410280	HP:0011463	Childhood onset	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0410280	HP:0011463	Childhood onset	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.	7128
HP:0410280	HP:0003593	Infantile onset	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.	7128
HP:0410280	HP:0003621	Juvenile onset	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0410280	HP:0003621	Juvenile onset	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity		1
HP:0410280	HP:0003621	Juvenile onset	1	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant		66
HP:0410280	HP:0011463	Childhood onset	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0410280	HP:0003593	Infantile onset	1	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0410280	HP:0003593	Infantile onset	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0410280	HP:0003593	Infantile onset	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.	55
HP:0410280	HP:0003593	Infantile onset	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0410280	HP:0011463	Childhood onset	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0410280	HP:0003621	Juvenile onset	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0410280	HP:0011463	Childhood onset	1	TUSC3 CL E G H	7991	30242	OMIM:611093	Mental retardation, autosomal recessive 7		76
HP:0410280	HP:0003593	Infantile onset	1	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0410280	HP:0003621	Juvenile onset	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0410280	HP:0003593	Infantile onset	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0410280	HP:0003621	Juvenile onset	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0410280	HP:0003621	Juvenile onset	1	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0410280	HP:0003593	Infantile onset	1	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0410280	HP:0011463	Childhood onset	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0410280	HP:0003621	Juvenile onset	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0410280	HP:0003593	Infantile onset	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0410280	HP:0003621	Juvenile onset	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0410280	HP:0003593	Infantile onset	1	UFSP2 CL E G H	55325	25640	OMIM:620028			2
HP:0410280	HP:0011463	Childhood onset	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0410280	HP:0003593	Infantile onset	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type		2
HP:0410280	HP:0003621	Juvenile onset	1	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0410280	HP:0011463	Childhood onset	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0410280	HP:0003621	Juvenile onset	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0410280	HP:0003593	Infantile onset	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0410280	HP:0003593	Infantile onset	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0410280	HP:0011463	Childhood onset	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0410280	HP:0011463	Childhood onset	1	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5		44
HP:0410280	HP:0003593	Infantile onset	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.	44
HP:0410280	HP:0011463	Childhood onset	1	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0410280	HP:0011463	Childhood onset	1	UROC1 CL E G H	131669	26444	OMIM:276880	Urocanase deficiency		8
HP:0410280	HP:0003593	Infantile onset	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0410280	HP:0003593	Infantile onset	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I		173
HP:0410280	HP:0003621	Juvenile onset	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0410280	HP:0003593	Infantile onset	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0410280	HP:0011463	Childhood onset	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0410280	HP:0003593	Infantile onset	1	UVSSA CL E G H	57654	29304	OMIM:614640	Uv-Sensitive syndrome 3	.	3
HP:0410280	HP:0003593	Infantile onset	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0410280	HP:0003621	Juvenile onset	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0410280	HP:0003593	Infantile onset	1	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0410280	HP:0003593	Infantile onset	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0410280	HP:0003593	Infantile onset	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20	.	56
HP:0410280	HP:0003593	Infantile onset	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0410280	HP:0003621	Juvenile onset	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0410280	HP:0011463	Childhood onset	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0410280	HP:0003593	Infantile onset	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0410280	HP:0011463	Childhood onset	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0410280	HP:0003621	Juvenile onset	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0410280	HP:0003593	Infantile onset	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0410280	HP:0003593	Infantile onset	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0410280	HP:0003593	Infantile onset	1	VPS33B CL E G H	26276	12712	OMIM:620009			63
HP:0410280	HP:0003593	Infantile onset	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0410280	HP:0011463	Childhood onset	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0410280	HP:0003593	Infantile onset	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0410280	HP:0011463	Childhood onset	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0410280	HP:0003593	Infantile onset	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.	7
HP:0410280	HP:0003593	Infantile onset	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0410280	HP:0011463	Childhood onset	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0410280	HP:0003593	Infantile onset	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0410280	HP:0003621	Juvenile onset	1	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0410280	HP:0003593	Infantile onset	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:0410280	HP:0003621	Juvenile onset	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0410280	HP:0011463	Childhood onset	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0410280	HP:0003593	Infantile onset	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0410280	HP:0003593	Infantile onset	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0410280	HP:0011463	Childhood onset	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0410280	HP:0003621	Juvenile onset	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0410280	HP:0003621	Juvenile onset	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0410280	HP:0011463	Childhood onset	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0410280	HP:0003593	Infantile onset	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0410280	HP:0003593	Infantile onset	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0410280	HP:0003593	Infantile onset	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0410280	HP:0011463	Childhood onset	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0410280	HP:0003593	Infantile onset	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0410280	HP:0003593	Infantile onset	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0410280	HP:0003593	Infantile onset	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0410280	HP:0003621	Juvenile onset	1	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6		389
HP:0410280	HP:0011463	Childhood onset	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0410280	HP:0003621	Juvenile onset	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0410280	HP:0011463	Childhood onset	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant		389
HP:0410280	HP:0003621	Juvenile onset	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant		389
HP:0410280	HP:0003593	Infantile onset	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0410280	HP:0003593	Infantile onset	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0410280	HP:0011463	Childhood onset	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia		71
HP:0410280	HP:0003621	Juvenile onset	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0410280	HP:0011463	Childhood onset	1	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.	177
HP:0410280	HP:0003593	Infantile onset	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12		149
HP:0410280	HP:0011463	Childhood onset	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0410280	HP:0011463	Childhood onset	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.	86
HP:0410280	HP:0003593	Infantile onset	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0410280	HP:0003593	Infantile onset	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0410280	HP:0003593	Infantile onset	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0410280	HP:0003593	Infantile onset	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0410280	HP:0003593	Infantile onset	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0410280	HP:0003593	Infantile onset	1	YWHAG CL E G H	7532	12852	OMIM:617665	Epileptic encephalopathy, early infantile, 56	.
HP:0410280	HP:0003593	Infantile onset	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0410280	HP:0003593	Infantile onset	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0410280	HP:0003593	Infantile onset	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0410280	HP:0003593	Infantile onset	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0410280	HP:0011463	Childhood onset	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0410280	HP:0003593	Infantile onset	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0410280	HP:0003593	Infantile onset	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy		83
HP:0410280	HP:0003593	Infantile onset	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0410280	HP:0003593	Infantile onset	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0410280	HP:0011463	Childhood onset	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0410280	HP:0003621	Juvenile onset	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0410280	HP:0003593	Infantile onset	1	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0410280	HP:0003593	Infantile onset	1	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.
HP:0410280	HP:0003593	Infantile onset	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0410280	HP:0003593	Infantile onset	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0410280	HP:0003621	Juvenile onset	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58		27
HP:0410280	HP:0003593	Infantile onset	1	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0410280	HP:0011463	Childhood onset	1	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0410280	HP:0003593	Infantile onset	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0410280	HP:0011463	Childhood onset	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0410280	HP:0003621	Juvenile onset	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0410280	HP:0003593	Infantile onset	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5
HP:0410280	HP:0003621	Juvenile onset	1	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (1528) :AAAS AARS1 AARS2 AASS ABCA4 ABCB11 ABCB4 ABCB6 ABCB7 ABCC6 ABCC9 ABCD3 ABHD12 ABHD16A ACADSB ACADVL ACO2 ACOX1 ACOX2 ACP5 ACSL4 ACTA1 ACTC1 ACTL6B ACTN2 ADA ADA2 ADAM22 ADAMTS19 ADAR ADAT3 ADCY3 ADCY5 ADD3 ADGRG1 ADGRV1 ADK ADNP ADPRS ADSL AEBP1 AFG3L2 AGA AGBL5 AGK AGO2 AGPAT2 AGRN AGTPBP1 AGXT AICDA AIFM1 AIMP2 AIRE AKAP9 AKT1 ALAS2 ALDH18A1 ALDH5A1 ALDOA ALG10B ALG11 ALG13 ALG14 ALG2 ALG6 ALG8 ALPK1 ALPK3 ALS2 AMBN AMMECR1 AMTN ANAPC7 ANGPT2 ANK1 ANKS6 ANLN ANO3 ANO5 ANOS1 ANTXR1 ANTXR2 AOPEP AP1S2 AP3B2 APC2 APCDD1 APOB APRT APTX AQP5 ARFGEF1 ARFGEF2 ARG1 ARHGEF1 ARL3 ARL6IP1 ARPC1B ARPC4 ARSB ARSK ARV1 ASAH1 ASH1L ASNS ASPA ASPH ASS1 ATAD3A ATG5 ATG7 ATL1 ATM ATN1 ATP11A ATP13A2 ATP13A3 ATP1A1 ATP1A2 ATP1A3 ATP2A1 ATP2B1 ATP2B2 ATP2B3 ATP5F1D ATP5MC3 ATP6AP1 ATP6AP2 ATP6V0A1 ATP6V0A4 ATP6V1B2 ATP7A ATP7B ATP8B1 ATR ATRX AUH AUTS2 B2M B3GALNT2 BAAT BAG5 BANF1 BCAS3 BCL10 BCORL1 BCS1L BDP1 BFSP1 BICD2 BIN1 BLM BLNK BMP15 BOLA3 BRAT1 BRF1 BRWD3 BSCL2 BTD BTK BVES C12ORF57 C19ORF12 C2ORF69 C3 C4B CA12 CACNA1A CACNA1C CACNA1H CACNA1S CACNA2D2 CACNB4 CACNG2 CAD CADM3 CALM1 CALM2 CAMK2A CAMK2B CAMK2G CAMTA1 CAPN3 CARD10 CARD11 CARD14 CARD9 CARMIL2 CARS2 CASK CASP10 CASQ2 CASR CAV1 CAV3 CAVIN1 CBLIF CBS CC2D1A CCDC115 CCDC134 CCDC39 CCDC65 CCDC78 CCT5 CD164 CD19 CD247 CD320 CD3D CD3E CD3G CD4 CD40LG CD46 CD59 CD79B CDH2 CDKL5 CEBPE CELF2 CEP104 CEP78 CERS1 CFAP410 CFB CFH CFI CFL2 CFTR CHAMP1 CHCHD10 CHD1 CHD2 CHD3 CHD5 CHD8 CHKA CHM CHMP1A CHP1 CHRNA1 CHRNA2 CHRNA4 CHRND CHRNE CHST6 CIC CIDEC CLCN1 CLCN2 CLCN3 CLCN4 CLCN7 CLDN11 CLDN16 CLIC5 CLMP CLN3 CLPB CLPX CLRN1 CLTC CNGA3 CNNM4 CNOT3 CNP CNPY3 COA8 COG2 COL10A1 COL12A1 COL18A1 COL1A1 COL1A2 COL2A1 COL4A1 COL6A1 COL6A2 COL6A3 COL7A1 COL9A1 COL9A2 COLQ COPA COPB1 COPB2 COQ2 COQ6 CORO1A COX10 COX20 COX4I2 COX5A COX6A2 CPA6 CPLANE1 CPLX1 CPSF3 CPT2 CRAT CRB1 CRB2 CRBN CREBBP CRX CSF1R CSTB CTC1 CTDP1 CTNNA3 CTNNB1 CTNNBL1 CTNS CTSD CUBN CUL3 CUX2 CWF19L1 CXCR2 CXCR4 CYB561 CYB5A CYBA CYBB CYC1 CYP11B1 CYP1B1 CYP2R1 CYP2U1 CYP3A4 CYP7B1 D2HGDH DAAM2 DAG1 DARS1 DBR1 DCC DCDC2 DCLRE1C DCX DDB1 DDC DDHD1 DDHD2 DDOST DDX3X DEAF1 DEF6 DGUOK DHDDS DHPS DHTKD1 DHX30 DIAPH1 DIAPH3 DIP2B DLAT DLD DLG4 DMD DNAAF4 DNAAF5 DNAH11 DNAH5 DNAH9 DNAJC3 DNAJC30 DNAJC6 DNASE1L3 DNM2 DOCK2 DOCK3 DOCK7 DOCK8 DOK7 DOLK DPAGT1 DPF2 DPH2 DPM1 DPM3 DPYD DRC1 DSC2 DSC3 DSG2 DSP DST DSTYK DTYMK DUT DYNC1H1 DYNC1I2 DYRK1A DYSF DZIP1L EARS2 EBF3 ECM1 EDA EDAR EDARADD EDC3 EDEM3 EEF1A2 EFHC1 EFL1 EGR2 EHHADH EIF2AK1 EIF2AK2 EIF2AK3 EIF2AK4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF3F ELANE ELF4 ELOVL1 ELP2 EMC10 EMD EMILIN1 ENPP1 EP300 EPG5 EPHB4 EPO EPRS1 ERBB2 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERF ETHE1 EXOC2 EXOC7 EXOSC5 EXOSC8 EXT1 EXT2 F13A1 F2 FA2H FANCB FANCL FAR1 FARSB FBLN5 FBN1 FBP2 FBXL3 FBXO7 FCGR2A FCGR3A FCHO1 FCSK FDXR FECH FERMT3 FGA FGB FGD4 FGF13 FGF14 FGG FHL1 FKTN FLG FLNA FLNC FLRT3 FLT4 FLVCR1 FMN2 FMR1 FN1 FNIP1 FOCAD FOXC1 FOXE3 FOXP1 FOXP2 FOXP3 FRG1 FRMD5 FRMD7 FRMPD4 FRRS1L FSHR FTL FTSJ1 FUCA1 FXN FYCO1 FZD4 G6PC1 G6PD GABBR2 GABRA1 GABRB1 GABRB3 GABRG2 GAD1 GAL GALC GALE GALNS GALNT3 GAMT GAN GANAB GARS1 GATA1 GATAD2B GATM GBA1 GBA2 GBF1 GCDH GCH1 GCK GDAP1 GEMIN4 GEMIN5 GFAP GFI1B GFPT1 GGCX GH1 GHR GIMAP5 GJB2 GJB3 GJC2 GLA GLB1 GLRA1 GLRA2 GLS GLUD1 GMPPA GMPPB GNAL GNAS GNB1 GNB2 GNB5 GNE GNPTAB GNS GON7 GOSR2 GP6 GPAA1 GPD1 GPHN GPIHBP1 GPR101 GPT2 GRIA1 GRIA3 GRID2 GRIK2 GRIN1 GRIN2B GRIN2D GRM1 GRXCR2 GTPBP2 GUCY2C GUCY2D GUSB GYG1 H3-3B H4C5 H4C9 H6PD HABP2 HADHA HADHB HAVCR2 HAX1 HCFC1 HCN1 HCN2 HCN4 HCRT HDAC4 HEPACAM HERC2 HEXB HGD HGSNAT HIBCH HID1 HIKESHI HINT1 HIVEP2 HK1 HNF1A HNMT HNRNPH2 HNRNPU HPCA HPDL HPRT1 HPS3 HPS5 HSCB HSD11B1 HSD11B2 HSD17B10 HSPB8 HSPG2 HTRA1 HUWE1 HYAL1 HYDIN IARS2 ICOS IDH3A IDS IDUA IFIH1 IFITM5 IFNAR1 IFNG IFT140 IGHM IGLL1 IKBKB IKBKG IKZF1 IL10RB IL11RA IL12B IL17RC IL21 IL21R IL2RB IL2RG IL36RN IL37 IL6R IL6ST IL7R ILDR1 IMPDH1 IMPG2 INPP5K INSR IQSEC2 IREB2 IRF2BPL IRF7 IRF8 ISCA1 ISCU ITGA3 ITGA7 ITK ITPA ITPR1 JAG1 JAG2 JAGN1 JAK3 JPH1 KANK2 KBTBD13 KCNA1 KCNA2 KCNB1 KCNC2 KCNH1 KCNH2 KCNJ10 KCNJ2 KCNK3 KCNMA1 KCNN2 KCNQ1 KCNQ2 KCNQ5 KCNT1 KCNT2 KCTD17 KCTD7 KDELR2 KDM4B KDM5B KDM5C KDR KERA KIDINS220 KIF12 KIF1A KIF3B KIRREL1 KISS1 KITLG KLC2 KLF1 KLHL7 KMT2B KMT2E KMT5B KPTN KRT1 KRT14 KRT5 KRT74 KRT81 KRT83 KRT86 L2HGDH LACC1 LAMA2 LAMA5 LARGE1 LCA5 LCK LDHA LEP LEPR LETM1 LGI1 LGI3 LIG1 LIG3 LIMS2 LINGO1 LINS1 LIPA LIPN LIPT1 LITAF LMAN2L LMBRD1 LMBRD2 LMNA LMNB1 LMNB2 LMX1B LOXL3 LPIN1 LRIG2 LRP12 LRP5 LRPPRC LRRK1 LTBP1 LYRM7 LYSET LYST MACF1 MAD2L2 MAF MAFA MAFB MAG MAGEL2 MAGT1 MANBA MAP1B MAP2K2 MAPK8IP3 MARCHF6 MARS1 MARS2 MAST1 MATN3 MBD4 MBD5 MBOAT7 MCCC1 MCCC2 MCEE MCM3AP MCM6 MCM9 MCOLN1 MDH2 MECP2 MECR MED12 MED13L MEF2C MEFV MERTK METTL23 MFF MFN2 MFSD8 MGME1 MIA3 MICAL1 MICOS13 MID2 MIEF2 MIPEP MLC1 MLIP MLPH MMAA MMACHC MMADHC MMP1 MMP14 MMP2 MMP9 MOCOS MORC2 MPDU1 MPI MPV17 MPZ MPZL2 MRPL3 MRPL44 MRPS2 MRPS25 MRPS34 MRPS7 MS4A1 MSH5 MSMO1 MSX1 MTFMT MTHFR MTMR14 MTOR MTR MTRFR MTRR MTSS2 MTX2 MUSK MVK MYBPC3 MYH14 MYH7 MYH9 MYL3 MYMK MYMX MYO5A MYO5B MYO7A MYOT MYOZ2 MYPN MYT1L NAA20 NACC1 NAGA NAGLU NAPB NARS1 NARS2 NAXD NAXE NBAS NBEA NCDN NCF1 NCF2 NCKAP1L NDP NDRG1 NDST1 NDUFA10 NDUFA12 NDUFA13 NDUFA6 NDUFA8 NDUFAF1 NDUFAF3 NDUFAF6 NDUFAF8 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS8 NDUFV1 NDUFV2 NEB NEFL NEMF NEUROD2 NEXMIF NEXN NF1 NFE2L2 NFIX NFKB1 NFKB2 NFKBIA NFU1 NGF NGLY1 NHLH2 NHP2 NKX2-1 NKX6-2 NLGN3 NLGN4X NLRC4 NLRP1 NLRP12 NLRP3 NMNAT1 NOS1AP NOTCH2NLC NPC1 NPC2 NPHP1 NPHP3 NPHS2 NR0B1 NR1H4 NR4A2 NRCAM NSD1 NSD2 NSRP1 NSUN2 NSUN3 NTRK1 NUBPL NUP107 NUP133 NUP214 NUP62 NUS1 OAS1 OAT OCLN OCRL OFD1 OGDH OGDHL OPA1 OPHN1 OSTM1 OTC OTULIN P3H2 P4HB P4HTM PADI3 PAK1 PANK2 PANK4 PAPPA2 PARN PAX8 PAX9 PC PCDH12 PCDH15 PCDH19 PCDHGC4 PCK1 PDCD10 PDE10A PDE11A PDE2A PDE6B PDE6G PDE6H PDGFB PDGFRB PDHA1 PDP1 PDZD8 PEPD PERP PET100 PET117 PEX1 PEX10 PEX16 PEX2 PGAP1 PGAP3 PGK1 PHEX PHIP PHKA2 PHKB PHKG2 PHOX2B PI4KA PIDD1 PIGA PIGG PIGK PIGM PIGP PIGS PIGT PIK3CD PIK3CG PIK3R1 PIK3R5 PINK1 PITPNM3 PITRM1 PKD2 PKHD1 PKLR PLA2G6 PLCB1 PLCE1 PLCG2 PLEC PLEKHG2 PLEKHG5 PLEKHM1 PLG PLP1 PLPBP PLXNA1 PMM2 PMP2 PMP22 PMPCA PMVK PNKD PNP PNPLA6 PNPLA8 PNPT1 POC1B POGZ POLA1 POLG POLR1C POLR3A POLR3B POLR3K POLRMT POMC POMGNT1 POMK POMT1 POMT2 POU1F1 PPA2 PPARG PPCS PPP2CA PPP3CA PRDM12 PRDM13 PRDM16 PRDX1 PRDX3 PRF1 PRKAG2 PRKAR1A PRKAR1B PRKDC PRKG2 PRKN PRKRA PRMT7 PRNP PROC PROM1 PRPF8 PRPS1 PRRT2 PRSS12 PRX PSAP PSMB8 PSMC1 PSMC3IP PSMD12 PSMG2 PSPH PTCHD1 PTH PTPRC PTPRQ PTS PURA PUS3 PUS7 PYGM PYROXD1 QDPR RAB27A RAB7A RAC1 RACGAP1 RAF1 RAG1 RAG2 RANBP2 RASGRP2 RAX2 RBCK1 RCBTB1 RDH12 RDX REEP1 REL RELN RERE REST RETREG1 RFT1 RHBDF2 RHO RIN2 RINT1 RIPK1 RIPOR2 RLIM RMRP RNASEH2A RNASET2 RNF170 RNF220 RNU4ATAC ROBO3 ROR1 RORB RORC RP1 RP2 RPA1 RPE65 RPGR RPGRIP1L RPL35A RPL3L RPS10 RPS19 RPS26 RPS29 RPSA RRM2B RSPH9 RSRC1 RTN4IP1 RUBCN RUSC2 RYR1 RYR2 S1PR2 SACS SAMD9 SAMD9L SAR1B SARS1 SARS2 SASH1 SASH3 SATB2 SBF1 SBF2 SCAPER SCN1A SCN2A SCN3A SCN4A SCN4B SCN5A SCN8A SCN9A SCNN1G SCO2 SDHA SDHAF1 SDHB SDHD SEC23B SELENBP1 SELENON SEMA7A SEPSECS SERPING1 SET SETBP1 SETD1A SETD5 SETX SFRP4 SGCA SGCB SGCD SGCE SGCG SGPL1 SGSH SH2D1A SH3BP2 SH3TC2 SHANK3 SHQ1 SI SIL1 SIN3A SKIC2 SLC12A3 SLC12A5 SLC12A6 SLC13A3 SLC16A1 SLC17A9 SLC18A2 SLC19A1 SLC19A2 SLC19A3 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC22A5 SLC25A1 SLC25A12 SLC25A19 SLC25A26 SLC25A38 SLC2A1 SLC30A9 SLC33A1 SLC34A2 SLC34A3 SLC35A1 SLC37A4 SLC38A3 SLC39A14 SLC39A4 SLC39A5 SLC39A7 SLC41A1 SLC46A1 SLC4A1 SLC4A11 SLC4A4 SLC51A SLC52A3 SLC5A6 SLC5A7 SLC6A2 SLC6A3 SLC6A6 SLC6A8 SLC7A6OS SLC7A7 SLCO2A1 SLURP1 SMAD9 SMARCA4 SMG9 SMN1 SMN2 SMPD1 SMPX SNAP29 SNORD118 SNRPN SNX14 SOBP SOCS1 SOD1 SON SOST SOX11 SOX18 SOX6 SP7 SPART SPATA5 SPATA5L1 SPATA7 SPEG SPG11 SPIDR SPR SPRED2 SPTAN1 SPTBN2 SPTLC2 SRCAP SRD5A3 STAG1 STAT1 STAT2 STAT3 STEAP3 STING1 STK11 STS STT3A STX11 STXBP1 STXBP2 SUCLA2 SUCLG1 SUPT16H SURF1 SVIL SYK SYNE1 SYNE2 SYNGAP1 SYT1 SYT2 TACO1 TACSTD2 TAF13 TAF2 TAF8 TAFAZZIN TARS2 TBC1D24 TBC1D2B TBCD TBCE TBK1 TBL1X TBL1XR1 TBR1 TBX18 TBX19 TBX21 TCF20 TCF3 TCF4 TCIRG1 TCTN2 TECR TECRL TERT TET2 TFG TGFB1 TGFB3 TGFBI TGFBR1 TGM3 TH THAP1 THOC6 THRB THUMPD1 TIAM1 TIE1 TIMM50 TIMM8A TIMMDC1 TINF2 TJP2 TK2 TLCD3B TLK2 TLR7 TLR8 TMC1 TMEM106B TMEM240 TMEM38B TMEM53 TMEM63C TMEM67 TMPRSS3 TMTC3 TMX2 TNFAIP3 TNFRSF11A TNFRSF11B TNFRSF4 TNFSF11 TNIK TNNC1 TNNI3 TNNT2 TNPO2 TNPO3 TNR TOGARAM1 TOM1 TOR1AIP1 TP63 TPK1 TPM1 TPM2 TPM3 TPO TPP1 TPP2 TPRKB TRAC TRAPPC10 TRAPPC2L TRAPPC6B TRAPPC9 TRDN TREX1 TRIM37 TRIO TRIOBP TRIP13 TRIT1 TRMT1 TRMU TRNN TRNS1 TRNT1 TRPA1 TRPM6 TRPV4 TRRAP TSC1 TSC2 TSEN15 TSPYL1 TTC26 TTI2 TTLL5 TTN TTPA TUB TUBB4A TUBB4B TUBB6 TUBGCP2 TUFM TULP3 TUSC3 TWIST1 TWNK TXN2 TYMP TYMS UBAP1 UBE2A UCHL1 UFSP2 UMOD UNC13D UNC45B UNG UPB1 UPF3B UROC1 USB1 USH1C USP53 UVSSA VAMP1 VAMP2 VARS1 VARS2 VDR VHL VPS16 VPS33A VPS33B VPS37A VPS41 VPS45 VPS53 VWA1 WAC WARS1 WARS2 WAS WASHC4 WDR19 WDR26 WDR4 WDR45B WDR62 WDR73 WDR81 WFS1 WLS WNK1 WNT10A WRN WT1 WWOX XIAP XPC YARS1 YIF1B YIPF5 YME1L1 YRDC YWHAG ZAP70 ZBTB18 ZFYVE19 ZMIZ1 ZMPSTE24 ZMYM2 ZMYND10 ZMYND11 ZNF142 ZNF407 ZNF462 ZNF513 ZNF526 ZNF711 ZNFX1 ZSWIM6 ZSWIM7

Diseases (1693) :OMIM:231550 OMIM:613287 OMIM:616339 OMIM:619691 OMIM:614096 OMIM:238700 OMIM:604116 OMIM:601847 OMIM:602347 OMIM:615402 OMIM:301310 OMIM:614473 OMIM:619719 OMIM:616278 OMIM:612674 OMIM:619735 OMIM:610006 OMIM:201475 OMIM:614559 OMIM:616289 OMIM:264470 OMIM:617308 OMIM:607944 OMIM:300387 OMIM:616852 OMIM:613424 OMIM:612098 OMIM:618470 OMIM:612158 OMIM:102700 OMIM:182410 OMIM:615688 OMIM:617933 OMIM:620067 OMIM:615010 OMIM:127400 OMIM:615286 OMIM:617885 OMIM:606703 OMIM:619651 OMIM:617008 OMIM:615752 OMIM:604352 OMIM:614300 OMIM:615873 OMIM:618170 OMIM:103050 OMIM:618000 OMIM:614487 OMIM:610246 OMIM:208400 OMIM:617023 OMIM:212350 OMIM:619149 OMIM:608594 OMIM:615120 OMIM:618276 OMIM:259900 OMIM:605258 OMIM:300816 OMIM:300232 OMIM:618006 OMIM:240300 OMIM:611820 OMIM:176920 OMIM:300751 OMIM:300752 OMIM:601162 OMIM:616586 OMIM:271980 OMIM:611881 OMIM:613688 OMIM:613661 OMIM:300884 OMIM:619031 OMIM:607906 OMIM:603147 OMIM:608104 OMIM:614979 OMIM:618052 OMIM:205100 OMIM:606353 OMIM:607225 OMIM:616270 OMIM:300990 OMIM:617607 OMIM:619699 OMIM:619369 OMIM:182900 OMIM:615382 OMIM:616032 OMIM:615034 OMIM:166260 OMIM:308700 OMIM:602089 OMIM:228600 OMIM:619565 OMIM:304340 OMIM:617276 OMIM:618677 OMIM:617169 OMIM:605389 OMIM:615558 OMIM:614723 OMIM:208920 OMIM:600231 OMIM:619964 OMIM:608097 OMIM:207800 OMIM:618459 OMIM:618173 OMIM:615685 OMIM:617718 OMIM:620141 OMIM:253200 OMIM:619698 OMIM:617020 OMIM:228000 OMIM:159950 OMIM:617796 OMIM:615574 OMIM:271900 OMIM:601552 OMIM:215700 OMIM:617183 OMIM:617584 OMIM:619422 OMIM:182600 OMIM:208900 OMIM:125370 OMIM:619810 OMIM:606693 OMIM:265400 OMIM:618036 OMIM:618314 OMIM:104290 OMIM:619605 OMIM:602481 OMIM:601338 OMIM:619606 OMIM:128235 OMIM:601003 OMIM:619910 OMIM:619804 OMIM:302500 OMIM:618120 OMIM:619681 OMIM:300972 OMIM:301045 OMIM:300423 OMIM:300911 OMIM:619970 OMIM:619971 OMIM:602722 OMIM:616455 OMIM:309400 OMIM:300489 OMIM:277900 OMIM:211600 OMIM:614564 OMIM:301040 OMIM:250950 OMIM:615834 OMIM:241600 OMIM:615181 OMIM:619232 OMIM:619747 OMIM:614008 OMIM:619641 OMIM:616098 OMIM:301029 OMIM:262000 OMIM:618257 OMIM:611391 OMIM:615290 OMIM:255200 OMIM:210900 OMIM:613502 OMIM:300510 OMIM:614299 OMIM:618056 OMIM:614498 OMIM:616202 OMIM:300659 OMIM:619112 OMIM:270685 OMIM:253260 OMIM:300755 OMIM:616812 OMIM:218340 OMIM:614298 OMIM:615043 OMIM:619423 OMIM:613779 OMIM:612925 OMIM:614379 OMIM:143860 OMIM:141500 OMIM:620029 OMIM:618447 OMIM:617027 OMIM:170400 OMIM:618501 OMIM:607682 OMIM:613855 OMIM:614256 OMIM:616457 OMIM:619519 OMIM:616247 OMIM:614916 OMIM:616249 OMIM:617798 OMIM:618095 OMIM:617799 OMIM:618522 OMIM:614756 OMIM:618129 OMIM:253600 OMIM:619632 OMIM:615206 OMIM:173200 OMIM:212050 OMIM:618131 OMIM:616672 OMIM:300908 OMIM:603909 OMIM:604772 OMIM:611938 OMIM:601198 OMIM:612526 OMIM:615343 OMIM:611818 OMIM:614321 OMIM:613327 OMIM:261000 OMIM:236200 OMIM:608443 OMIM:616828 OMIM:619795 OMIM:613807 OMIM:615504 OMIM:614807 OMIM:256840 OMIM:616969 OMIM:613493 OMIM:610163 OMIM:613646 OMIM:615617 OMIM:615615 OMIM:615607 OMIM:619238 OMIM:308230 OMIM:612922 OMIM:612300 OMIM:612692 OMIM:619957 OMIM:618920 OMIM:300672 OMIM:260570 OMIM:619561 OMIM:619988 OMIM:616781 OMIM:617236 OMIM:616230 OMIM:602271 OMIM:615561 OMIM:609814 OMIM:610984 OMIM:612923 OMIM:610687 OMIM:219700 OMIM:616579 OMIM:616209 OMIM:617682 OMIM:615369 OMIM:618205 OMIM:619873 OMIM:615032 OMIM:620023 OMIM:303100 OMIM:614961 OMIM:618438 OMIM:601462 OMIM:608930 OMIM:610353 OMIM:600513 OMIM:616321 OMIM:616322 OMIM:616324 OMIM:608931 OMIM:217800 OMIM:617600 OMIM:615238 OMIM:160800 OMIM:255700 OMIM:605635 OMIM:615651 OMIM:619517 OMIM:300114 OMIM:166600 OMIM:611490 OMIM:619328 OMIM:248250 OMIM:616042 OMIM:615237 OMIM:204200 OMIM:616271 OMIM:619835 OMIM:619813 OMIM:618015 OMIM:276902 OMIM:617854 OMIM:216900 OMIM:217080 OMIM:618672 OMIM:619071 OMIM:617929 OMIM:619061 OMIM:617395 OMIM:156500 OMIM:616470 OMIM:267750 OMIM:619115 OMIM:619120 OMIM:616583 OMIM:175780 OMIM:254090 OMIM:255600 OMIM:616411 OMIM:226600 OMIM:614135 OMIM:600204 OMIM:603034 OMIM:616414 OMIM:619255 OMIM:619884 OMIM:607426 OMIM:614650 OMIM:615401 OMIM:619046 OMIM:619054 OMIM:612714 OMIM:619064 OMIM:619062 OMIM:614417 OMIM:614615 OMIM:617976 OMIM:619876 OMIM:600649 OMIM:255110 OMIM:617917 OMIM:613835 OMIM:600105 OMIM:616220 OMIM:607417 OMIM:180849 OMIM:613829 OMIM:618476 OMIM:254800 OMIM:612199 OMIM:604168 OMIM:615616 OMIM:617572 OMIM:615075 OMIM:619846 OMIM:219750 OMIM:219900 OMIM:219800 OMIM:610127 OMIM:261100 OMIM:619239 OMIM:618141 OMIM:616127 OMIM:619407 OMIM:193670 OMIM:618182 OMIM:250790 OMIM:233690 OMIM:306400 OMIM:615453 OMIM:103900 OMIM:231300 OMIM:600081 OMIM:615030 OMIM:619073 OMIM:270800 OMIM:600721 OMIM:619263 OMIM:616538 OMIM:613818 OMIM:615281 OMIM:619441 OMIM:617542 OMIM:617394 OMIM:602450 OMIM:300067 OMIM:619426 OMIM:608643 OMIM:609340 OMIM:615033 OMIM:614507 OMIM:300958 OMIM:617171 OMIM:619573 OMIM:251880 OMIM:613861 OMIM:618480 OMIM:615025 OMIM:617804 OMIM:124900 OMIM:609129 OMIM:136630 OMIM:245348 OMIM:246900 OMIM:618793 OMIM:302045 OMIM:310200 OMIM:615482 OMIM:614874 OMIM:611884 OMIM:608644 OMIM:618300 OMIM:616192 OMIM:619382 OMIM:615528 OMIM:614420 OMIM:606482 OMIM:160150 OMIM:616433 OMIM:618292 OMIM:615859 OMIM:243700 OMIM:254300 OMIM:610768 OMIM:614750 OMIM:618027 OMIM:620062 OMIM:608799 OMIM:612937 OMIM:274270 OMIM:615294 OMIM:610476 OMIM:613102 OMIM:610193 OMIM:612908 OMIM:615425 OMIM:270750 OMIM:619847 OMIM:620044 OMIM:614563 OMIM:158600 OMIM:618492 OMIM:614104 OMIM:253601 OMIM:617610 OMIM:614924 OMIM:617330 OMIM:247100 OMIM:305100 OMIM:224900 OMIM:616460 OMIM:619493 OMIM:616409 OMIM:607631 OMIM:254770 OMIM:617941 OMIM:607678 OMIM:145900 OMIM:615605 OMIM:618878 OMIM:619687 OMIM:618877 OMIM:226980 OMIM:234810 OMIM:603896 OMIM:618295 OMIM:202700 OMIM:301074 OMIM:618527 OMIM:617270 OMIM:619264 OMIM:310300 OMIM:620080 OMIM:615522 OMIM:613312 OMIM:613684 OMIM:242840 OMIM:618196 OMIM:617911 OMIM:617951 OMIM:619465 OMIM:610758 OMIM:601675 OMIM:278760 OMIM:278780 OMIM:133540 OMIM:278800 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OMIM:618230 OMIM:252010 OMIM:618222 OMIM:618225 OMIM:618229 OMIM:256030 OMIM:607684 OMIM:607734 OMIM:619099 OMIM:618374 OMIM:300912 OMIM:613876 OMIM:162200 OMIM:617744 OMIM:614753 OMIM:616576 OMIM:615577 OMIM:612132 OMIM:605711 OMIM:608654 OMIM:615273 OMIM:619755 OMIM:613987 OMIM:118700 OMIM:617560 OMIM:300494 OMIM:300425 OMIM:300497 OMIM:300495 OMIM:616115 OMIM:617388 OMIM:611762 OMIM:607115 OMIM:120100 OMIM:148200 OMIM:191900 OMIM:608553 OMIM:619260 OMIM:619155 OMIM:619473 OMIM:257220 OMIM:607625 OMIM:266900 OMIM:208540 OMIM:600995 OMIM:300200 OMIM:617049 OMIM:619911 OMIM:619833 OMIM:117550 OMIM:619695 OMIM:620001 OMIM:611091 OMIM:619012 OMIM:256800 OMIM:618242 OMIM:618348 OMIM:618177 OMIM:618426 OMIM:271930 OMIM:617831 OMIM:618042 OMIM:258870 OMIM:251290 OMIM:300555 OMIM:300424 OMIM:203740 OMIM:619701 OMIM:210000 OMIM:125250 OMIM:300486 OMIM:259720 OMIM:311250 OMIM:619986 OMIM:617099 OMIM:614292 OMIM:112240 OMIM:618493 OMIM:191480 OMIM:618158 OMIM:607236 OMIM:234200 OMIM:619593 OMIM:619489 OMIM:616353 OMIM:218700 OMIM:604625 OMIM:266150 OMIM:251280 OMIM:609533 OMIM:300088 OMIM:619880 OMIM:261680 OMIM:603285 OMIM:616921 OMIM:610475 OMIM:619150 OMIM:613801 OMIM:613582 OMIM:610024 OMIM:213600 OMIM:615007 OMIM:228550 OMIM:312170 OMIM:608782 OMIM:620021 OMIM:170100 OMIM:619208 OMIM:619055 OMIM:619063 OMIM:214100 OMIM:614871 OMIM:614877 OMIM:614867 OMIM:615802 OMIM:615716 OMIM:300653 OMIM:307800 OMIM:617991 OMIM:306000 OMIM:261750 OMIM:613027 OMIM:209880 OMIM:619708 OMIM:619621 OMIM:619827 OMIM:301072 OMIM:616917 OMIM:618879 OMIM:610293 OMIM:617599 OMIM:618143 OMIM:615398 OMIM:619281 OMIM:619802 OMIM:615214 OMIM:616005 OMIM:615217 OMIM:605909 OMIM:600977 OMIM:619405 OMIM:613095 OMIM:263200 OMIM:266200 OMIM:256600 OMIM:610217 OMIM:612953 OMIM:613722 OMIM:610725 OMIM:614878 OMIM:614468 OMIM:616487 OMIM:613723 OMIM:616763 OMIM:615376 OMIM:611067 OMIM:618107 OMIM:217090 OMIM:312080 OMIM:312920 OMIM:617290 OMIM:619955 OMIM:212065 OMIM:618279 OMIM:118300 OMIM:118220 OMIM:162500 OMIM:213200 OMIM:175800 OMIM:118800 OMIM:613179 OMIM:215470 OMIM:251950 OMIM:614932 OMIM:614934 OMIM:615973 OMIM:616364 OMIM:301220 OMIM:603041 OMIM:203700 OMIM:613662 OMIM:607459 OMIM:616494 OMIM:607694 OMIM:619742 OMIM:614381 OMIM:619310 OMIM:619743 OMIM:609734 OMIM:613157 OMIM:616094 OMIM:613155 OMIM:609308 OMIM:613158 OMIM:613038 OMIM:617222 OMIM:604367 OMIM:618189 OMIM:618354 OMIM:617711 OMIM:616488 OMIM:619761 OMIM:615373 OMIM:619871 OMIM:619862 OMIM:603553 OMIM:194200 OMIM:610489 OMIM:619680 OMIM:615966 OMIM:619636 OMIM:619638 OMIM:600116 OMIM:612067 OMIM:617157 OMIM:600072 OMIM:612304 OMIM:612095 OMIM:600059 OMIM:311070 OMIM:605751 OMIM:249500 OMIM:614895 OMIM:611722 OMIM:256040 OMIM:620071 OMIM:614324 OMIM:617516 OMIM:619183 OMIM:614023 OMIM:300830 OMIM:146200 OMIM:619924 OMIM:613391 OMIM:261640 OMIM:616158 OMIM:617051 OMIM:618342 OMIM:232600 OMIM:617258 OMIM:261630 OMIM:607624 OMIM:600882 OMIM:617751 OMIM:619789 OMIM:615916 OMIM:233650 OMIM:608033 OMIM:615888 OMIM:620102 OMIM:615895 OMIM:617175 OMIM:612712 OMIM:611022 OMIM:610250 OMIM:619652 OMIM:616975 OMIM:616806 OMIM:613115 OMIM:612015 OMIM:148500 OMIM:610445 OMIM:613731 OMIM:613075 OMIM:618641 OMIM:618108 OMIM:607017 OMIM:300978 OMIM:250250 OMIM:250460 OMIM:610333 OMIM:612951 OMIM:619686 OMIM:619688 OMIM:210710 OMIM:607313 OMIM:617654 OMIM:618357 OMIM:616622 OMIM:180100 OMIM:312600 OMIM:619767 OMIM:204100 OMIM:613794 OMIM:300029 OMIM:619113 OMIM:612528 OMIM:619371 OMIM:613308 OMIM:105650 OMIM:613309 OMIM:615909 OMIM:271400 OMIM:268315 OMIM:612650 OMIM:618402 OMIM:616732 OMIM:615705 OMIM:617773 OMIM:117000 OMIM:619542 OMIM:255320 OMIM:600996 OMIM:610419 OMIM:270550 OMIM:619041 OMIM:619806 OMIM:246700 OMIM:617709 OMIM:613845 OMIM:127500 OMIM:301082 OMIM:612313 OMIM:615284 OMIM:604563 OMIM:618195 OMIM:619317 OMIM:607208 OMIM:604403 OMIM:609634 OMIM:613721 OMIM:617935 OMIM:617938 OMIM:170500 OMIM:614198 OMIM:168300 OMIM:611819 OMIM:601154 OMIM:603830 OMIM:608567 OMIM:614306 OMIM:614558 OMIM:133020 OMIM:618114 OMIM:604377 OMIM:613642 OMIM:252011 OMIM:619166 OMIM:619224 OMIM:619167 OMIM:224100 OMIM:618148 OMIM:602771 OMIM:619874 OMIM:613811 OMIM:106100 OMIM:618106 OMIM:616078 OMIM:619056 OMIM:615761 OMIM:602433 OMIM:265900 OMIM:608099 OMIM:604286 OMIM:606685 OMIM:601287 OMIM:159900 OMIM:253700 OMIM:617575 OMIM:252900 OMIM:308240 OMIM:118400 OMIM:601596 OMIM:613950 OMIM:619922 OMIM:619921 OMIM:222900 OMIM:248800 OMIM:613406 OMIM:614602 OMIM:263800 OMIM:616645 OMIM:620068 OMIM:618384 OMIM:616095 OMIM:616063 OMIM:618049 OMIM:601775 OMIM:249270 OMIM:607483 OMIM:617105 OMIM:612656 OMIM:616657 OMIM:212140 OMIM:618197 OMIM:612949 OMIM:613710 OMIM:616794 OMIM:205950 OMIM:606777 OMIM:612126 OMIM:608885 OMIM:617595 OMIM:614482 OMIM:265100 OMIM:241530 OMIM:603585 OMIM:619525 OMIM:232220 OMIM:619881 OMIM:617013 OMIM:144755 OMIM:201100 OMIM:615946 OMIM:619693 OMIM:619468 OMIM:229050 OMIM:179800 OMIM:217400 OMIM:604278 OMIM:619484 OMIM:211530 OMIM:619903 OMIM:618973 OMIM:617143 OMIM:158580 OMIM:604715 OMIM:613135 OMIM:145350 OMIM:300352 OMIM:619191 OMIM:222700 OMIM:614441 OMIM:248300 OMIM:615342 OMIM:613325 OMIM:619995 OMIM:253300 OMIM:253400 OMIM:257200 OMIM:607616 OMIM:300066 OMIM:609528 OMIM:614561 OMIM:209850 OMIM:616354 OMIM:613671 OMIM:619375 OMIM:618598 OMIM:617140 OMIM:122860 OMIM:615866 OMIM:137940 OMIM:618971 OMIM:613849 OMIM:275900 OMIM:616577 OMIM:619615 OMIM:619616 OMIM:604232 OMIM:615959 OMIM:602099 OMIM:604360 OMIM:619665 OMIM:612716 OMIM:619745 OMIM:613477 OMIM:600224 OMIM:615386 OMIM:613640 OMIM:619595 OMIM:136140 OMIM:612379 OMIM:617635 OMIM:614162 OMIM:616636 OMIM:615952 OMIM:147060 OMIM:615234 OMIM:615934 OMIM:175200 OMIM:308100 OMIM:615596 OMIM:619714 OMIM:603552 OMIM:612164 OMIM:613101 OMIM:612073 OMIM:245400 OMIM:619480 OMIM:220110 OMIM:619040 OMIM:619381 OMIM:612998 OMIM:612999 OMIM:612621 OMIM:618218 OMIM:616040 OMIM:619052 OMIM:204870 OMIM:617432 OMIM:615599 OMIM:619972 OMIM:302060 OMIM:615918 OMIM:608105 OMIM:605021 OMIM:619323 OMIM:617193 OMIM:617207 OMIM:617900 OMIM:301033 OMIM:616944 OMIM:606053 OMIM:143400 OMIM:201400 OMIM:619630 OMIM:618430 OMIM:616941 OMIM:619824 OMIM:610954 OMIM:259700 OMIM:616654 OMIM:614020 OMIM:614021 OMIM:613989 OMIM:619126 OMIM:615658 OMIM:131300 OMIM:107970 OMIM:121820 OMIM:608470 OMIM:132800 OMIM:617251 OMIM:605407 OMIM:602629 OMIM:613680 OMIM:188570 OMIM:274300 OMIM:619989 OMIM:619908 OMIM:619401 OMIM:617698 OMIM:304700 OMIM:618251 OMIM:613990 OMIM:268130 OMIM:615878 OMIM:609560 OMIM:619531 OMIM:618050 OMIM:301080 OMIM:301078 OMIM:600974 OMIM:617964 OMIM:607454 OMIM:615066 OMIM:619727 OMIM:619966 OMIM:216360 OMIM:601072 OMIM:617255 OMIM:618730 OMIM:616744 OMIM:612301 OMIM:239000 OMIM:615593 OMIM:259710 OMIM:617028 OMIM:613243 OMIM:613286 OMIM:601494 OMIM:619556 OMIM:608423 OMIM:619653 OMIM:619185 OMIM:619510 OMIM:617072 OMIM:604292 OMIM:614458 OMIM:611878 OMIM:609285 OMIM:609284 OMIM:274500 OMIM:609270 OMIM:619220 OMIM:617731 OMIM:615387 OMIM:620027 OMIM:618331 OMIM:617862 OMIM:613192 OMIM:615441 OMIM:610448 OMIM:253250 OMIM:618825 OMIM:617061 OMIM:609823 OMIM:617598 OMIM:617873 OMIM:618302 OMIM:613070 OMIM:616084 OMIM:615040 OMIM:602014 OMIM:606835 OMIM:606071 OMIM:168400 OMIM:184252 OMIM:618454 OMIM:617026 OMIM:608800 OMIM:619534 OMIM:615541 OMIM:615860 OMIM:608807 OMIM:611705 OMIM:277460 OMIM:616188 OMIM:128101 OMIM:617879 OMIM:617732 OMIM:618737 OMIM:610678 OMIM:619902 OMIM:611093 OMIM:123100 OMIM:616811 OMIM:620040 OMIM:618418 OMIM:300860 OMIM:615491 OMIM:620028 OMIM:142669 OMIM:617974 OMIM:162000 OMIM:608898 OMIM:619178 OMIM:608106 OMIM:613161 OMIM:300676 OMIM:276880 OMIM:604173 OMIM:619658 OMIM:614640 OMIM:618323 OMIM:108600 OMIM:618760 OMIM:617802 OMIM:615917 OMIM:277440 OMIM:263400 OMIM:619291 OMIM:617303 OMIM:620009 OMIM:620010 OMIM:614898 OMIM:619389 OMIM:615285 OMIM:615851 OMIM:619216 OMIM:616708 OMIM:617721 OMIM:617710 OMIM:619738 OMIM:301000 OMIM:615817 OMIM:614377 OMIM:616307 OMIM:617616 OMIM:618347 OMIM:617977 OMIM:604317 OMIM:251300 OMIM:610185 OMIM:600965 OMIM:222300 OMIM:614296 OMIM:619648 OMIM:257980 OMIM:277700 OMIM:256370 OMIM:614322 OMIM:278720 OMIM:619418 OMIM:619125 OMIM:619278 OMIM:617302 OMIM:619609 OMIM:617665 OMIM:617006 OMIM:269840 OMIM:612337 OMIM:619849 OMIM:618659 OMIM:608612 OMIM:619522 OMIM:615444 OMIM:616083 OMIM:618425 OMIM:619557 OMIM:618619 OMIM:613617 OMIM:619877 OMIM:300803 OMIM:619644 OMIM:617865 OMIM:619834

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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