Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Clinical course (HP:0031797)

Parent Node:
Onset (HP:0003674)

..Starting node
..Juvenile onset (HP:0003621)

Term ID:

3621

Name:

Juvenile onset

Synonym:

Signs and symptoms begin before 15 years of age

Definition:

Onset of signs or symptoms of disease between the age of 5 and 15 years.

Comments:

Reference:

HP:0003621

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adult onset (HP:0003581)

Antenatal onset (HP:0030674)

Childhood onset (HP:0011463)

Congenital onset (HP:0003577)

Infantile onset (HP:0003593)

Neonatal onset (HP:0003623)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003621	HP:0003621	Juvenile onset	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0003621	HP:0003621	Juvenile onset	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003621	HP:0003621	Juvenile onset	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0003621	HP:0003621	Juvenile onset	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0003621	HP:0003621	Juvenile onset	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0003621	HP:0003621	Juvenile onset	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9		60
HP:0003621	HP:0003621	Juvenile onset	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0003621	HP:0003621	Juvenile onset	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R		208
HP:0003621	HP:0003621	Juvenile onset	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11		208
HP:0003621	HP:0003621	Juvenile onset	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction		307
HP:0003621	HP:0003621	Juvenile onset	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0003621	HP:0003621	Juvenile onset	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0003621	HP:0003621	Juvenile onset	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0003621	HP:0003621	Juvenile onset	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75		2
HP:0003621	HP:0003621	Juvenile onset	0	AKAP9 CL E G H	10142	379	OMIM:611820	Long QT syndrome 11		289
HP:0003621	HP:0003621	Juvenile onset	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0003621	HP:0003621	Juvenile onset	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0003621	HP:0003621	Juvenile onset	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0003621	HP:0003621	Juvenile onset	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0003621	HP:0003621	Juvenile onset	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0003621	HP:0003621	Juvenile onset	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1		150
HP:0003621	HP:0003621	Juvenile onset	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16		32
HP:0003621	HP:0003621	Juvenile onset	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8		6
HP:0003621	HP:0003621	Juvenile onset	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0003621	HP:0003621	Juvenile onset	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia		304
HP:0003621	HP:0003621	Juvenile onset	0	AOPEP CL E G H	84909	1361	OMIM:619565	DYSTONIA 31; DYT31
HP:0003621	HP:0003621	Juvenile onset	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0003621	HP:0003621	Juvenile onset	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0003621	HP:0003621	Juvenile onset	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0003621	HP:0003621	Juvenile onset	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0003621	HP:0003621	Juvenile onset	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0003621	HP:0003621	Juvenile onset	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic		119
HP:0003621	HP:0003621	Juvenile onset	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant		71
HP:0003621	HP:0003621	Juvenile 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:0003621	HP:0003621	Juvenile onset	0	ATP11A CL E G H	23250	13552	OMIM:619810	DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84
HP:0003621	HP:0003621	Juvenile onset	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0003621	HP:0003621	Juvenile onset	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0003621	HP:0003621	Juvenile onset	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0003621	HP:0003621	Juvenile onset	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0003621	HP:0003621	Juvenile onset	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0003621	HP:0003621	Juvenile onset	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0003621	HP:0003621	Juvenile onset	0	ATP2B2 CL E G H	491	815	OMIM:619804	DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82		5
HP:0003621	HP:0003621	Juvenile onset	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0003621	HP:0003621	Juvenile onset	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0003621	HP:0003621	Juvenile onset	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0003621	HP:0003621	Juvenile onset	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.	192
HP:0003621	HP:0003621	Juvenile onset	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0003621	HP:0003621	Juvenile onset	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1		144
HP:0003621	HP:0003621	Juvenile onset	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0003621	HP:0003621	Juvenile onset	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1		63
HP:0003621	HP:0003621	Juvenile onset	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0003621	HP:0003621	Juvenile onset	0	BFSP1 CL E G H	631	1040	OMIM:611391	Cataract 33, multiple types		15
HP:0003621	HP:0003621	Juvenile onset	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0003621	HP:0003621	Juvenile onset	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0003621	HP:0003621	Juvenile onset	0	BMP15 CL E G H	9210	1068	OMIM:300510	Ovarian dysgenesis 2		16
HP:0003621	HP:0003621	Juvenile onset	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0003621	HP:0003621	Juvenile onset	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0003621	HP:0003621	Juvenile onset	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0003621	HP:0003621	Juvenile onset	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0003621	HP:0003621	Juvenile onset	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0003621	HP:0003621	Juvenile onset	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0003621	HP:0003621	Juvenile onset	0	C3 CL E G H	718	1318	OMIM:612925	Hemolytic uremic syndrome, atypical, susceptibility to, 5		92
HP:0003621	HP:0003621	Juvenile onset	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1		449
HP:0003621	HP:0003621	Juvenile onset	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0003621	HP:0003621	Juvenile onset	0	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0003621	HP:0003621	Juvenile onset	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.	146
HP:0003621	HP:0003621	Juvenile onset	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5		146
HP:0003621	HP:0003621	Juvenile onset	0	CALM1 CL E G H	801	1442	OMIM:614916	Ventricular tachycardia, catecholaminergic polymorphic, 4		18
HP:0003621	HP:0003621	Juvenile onset	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0003621	HP:0003621	Juvenile onset	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0003621	HP:0003621	Juvenile onset	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0003621	HP:0003621	Juvenile onset	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0003621	HP:0003621	Juvenile onset	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0003621	HP:0003621	Juvenile onset	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0003621	HP:0003621	Juvenile onset	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		118
HP:0003621	HP:0003621	Juvenile onset	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0003621	HP:0003621	Juvenile 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:0003621	HP:0003621	Juvenile onset	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0003621	HP:0003621	Juvenile onset	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0003621	HP:0003621	Juvenile onset	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9		148
HP:0003621	HP:0003621	Juvenile onset	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0003621	HP:0003621	Juvenile onset	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0003621	HP:0003621	Juvenile onset	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0003621	HP:0003621	Juvenile onset	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3		38
HP:0003621	HP:0003621	Juvenile onset	0	CD4 CL E G H	920	1678	OMIM:619238	IMMUNODEFICIENCY 79; IMD79		1
HP:0003621	HP:0003621	Juvenile onset	0	CD46 CL E G H	4179	6953	OMIM:612922	Hemolytic uremic syndrome, atypical, susceptibility to, 2		39
HP:0003621	HP:0003621	Juvenile onset	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0003621	HP:0003621	Juvenile onset	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain		3
HP:0003621	HP:0003621	Juvenile onset	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0003621	HP:0003621	Juvenile onset	0	CFH CL E G H	3075	4883	OMIM:609814	Complement factor H deficiency	.	86
HP:0003621	HP:0003621	Juvenile onset	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0003621	HP:0003621	Juvenile onset	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0003621	HP:0003621	Juvenile onset	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0003621	HP:0003621	Juvenile onset	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel		74
HP:0003621	HP:0003621	Juvenile onset	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4		188
HP:0003621	HP:0003621	Juvenile onset	0	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1	.	129
HP:0003621	HP:0003621	Juvenile onset	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0003621	HP:0003621	Juvenile onset	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5		8
HP:0003621	HP:0003621	Juvenile onset	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0003621	HP:0003621	Juvenile onset	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0003621	HP:0003621	Juvenile onset	0	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0003621	HP:0003621	Juvenile onset	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0003621	HP:0003621	Juvenile onset	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0003621	HP:0003621	Juvenile onset	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0003621	HP:0003621	Juvenile onset	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3		216
HP:0003621	HP:0003621	Juvenile onset	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0003621	HP:0003621	Juvenile onset	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0003621	HP:0003621	Juvenile onset	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0003621	HP:0003621	Juvenile onset	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6		39
HP:0003621	HP:0003621	Juvenile onset	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0003621	HP:0003621	Juvenile onset	0	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5		49
HP:0003621	HP:0003621	Juvenile onset	0	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9		12
HP:0003621	HP:0003621	Juvenile onset	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0003621	HP:0003621	Juvenile onset	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)		51
HP:0003621	HP:0003621	Juvenile onset	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0003621	HP:0003621	Juvenile onset	0	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7		88
HP:0003621	HP:0003621	Juvenile onset	0	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0003621	HP:0003621	Juvenile onset	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.	178
HP:0003621	HP:0003621	Juvenile onset	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0003621	HP:0003621	Juvenile onset	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0003621	HP:0003621	Juvenile onset	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism		112
HP:0003621	HP:0003621	Juvenile onset	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0003621	HP:0003621	Juvenile onset	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0003621	HP:0003621	Juvenile onset	0	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0003621	HP:0003621	Juvenile onset	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0003621	HP:0003621	Juvenile onset	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0003621	HP:0003621	Juvenile onset	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0003621	HP:0003621	Juvenile onset	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0003621	HP:0003621	Juvenile onset	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59		47
HP:0003621	HP:0003621	Juvenile onset	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0003621	HP:0003621	Juvenile onset	0	DIAPH1 CL E G H	1729	2876	OMIM:124900	Deafness, autosomal dominant 1		118
HP:0003621	HP:0003621	Juvenile onset	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0003621	HP:0003621	Juvenile onset	0	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0003621	HP:0003621	Juvenile onset	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0003621	HP:0003621	Juvenile onset	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0003621	HP:0003621	Juvenile onset	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0003621	HP:0003621	Juvenile onset	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0003621	HP:0003621	Juvenile onset	0	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0003621	HP:0003621	Juvenile onset	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.	167
HP:0003621	HP:0003621	Juvenile onset	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0003621	HP:0003621	Juvenile onset	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003621	HP:0003621	Juvenile onset	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency		144
HP:0003621	HP:0003621	Juvenile onset	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11		268
HP:0003621	HP:0003621	Juvenile onset	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0003621	HP:0003621	Juvenile onset	0	DSP CL E G H	1832	3052	OMIM:612908	Keratosis palmoplantaris striata II		747
HP:0003621	HP:0003621	Juvenile onset	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0003621	HP:0003621	Juvenile onset	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0003621	HP:0003621	Juvenile onset	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0003621	HP:0003621	Juvenile onset	0	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence		153
HP:0003621	HP:0003621	Juvenile onset	0	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1		153
HP:0003621	HP:0003621	Juvenile onset	0	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D	.	58
HP:0003621	HP:0003621	Juvenile onset	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0003621	HP:0003621	Juvenile onset	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	42
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	24
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	32
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	38
HP:0003621	HP:0003621	Juvenile onset	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040282 - Frequent	48
HP:0003621	HP:0003621	Juvenile onset	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0003621	HP:0003621	Juvenile onset	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0003621	HP:0003621	Juvenile onset	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2		151
HP:0003621	HP:0003621	Juvenile onset	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0003621	HP:0003621	Juvenile onset	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F		158
HP:0003621	HP:0003621	Juvenile onset	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0003621	HP:0003621	Juvenile onset	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0003621	HP:0003621	Juvenile onset	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0003621	HP:0003621	Juvenile onset	0	FBN1 CL E G H	2200	3603	OMIM:129600	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1		1361
HP:0003621	HP:0003621	Juvenile onset	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0003621	HP:0003621	Juvenile onset	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0003621	HP:0003621	Juvenile onset	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0003621	HP:0003621	Juvenile onset	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26		197
HP:0003621	HP:0003621	Juvenile onset	0	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia		4
HP:0003621	HP:0003621	Juvenile onset	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2		9
HP:0003621	HP:0003621	Juvenile onset	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0003621	HP:0003621	Juvenile onset	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0003621	HP:0003621	Juvenile onset	0	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1		50
HP:0003621	HP:0003621	Juvenile onset	0	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0003621	HP:0003621	Juvenile onset	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0003621	HP:0003621	Juvenile onset	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency		101
HP:0003621	HP:0003621	Juvenile onset	0	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8		1
HP:0003621	HP:0003621	Juvenile onset	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003621	HP:0003621	Juvenile onset	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.	46
HP:0003621	HP:0003621	Juvenile onset	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0003621	HP:0003621	Juvenile onset	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3		6
HP:0003621	HP:0003621	Juvenile onset	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0003621	HP:0003621	Juvenile onset	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0003621	HP:0003621	Juvenile onset	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3		237
HP:0003621	HP:0003621	Juvenile onset	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0003621	HP:0003621	Juvenile onset	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0003621	HP:0003621	Juvenile onset	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0003621	HP:0003621	Juvenile onset	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0003621	HP:0003621	Juvenile onset	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120
HP:0003621	HP:0003621	Juvenile onset	0	GNAL CL E G H	2774	4388	OMIM:615073	Dystonia 25		13
HP:0003621	HP:0003621	Juvenile onset	0	GNAS CL E G H	2778	4392	OMIM:166350	Osseous heteroplasia, progressive	.	101
HP:0003621	HP:0003621	Juvenile onset	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0003621	HP:0003621	Juvenile onset	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1		8
HP:0003621	HP:0003621	Juvenile onset	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0003621	HP:0003621	Juvenile onset	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2		185
HP:0003621	HP:0003621	Juvenile onset	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0003621	HP:0003621	Juvenile onset	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0003621	HP:0003621	Juvenile onset	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0003621	HP:0003621	Juvenile onset	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0003621	HP:0003621	Juvenile onset	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0003621	HP:0003621	Juvenile onset	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome		76
HP:0003621	HP:0003621	Juvenile onset	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0003621	HP:0003621	Juvenile onset	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0003621	HP:0003621	Juvenile onset	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0003621	HP:0003621	Juvenile onset	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2		5
HP:0003621	HP:0003621	Juvenile onset	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0003621	HP:0003621	Juvenile onset	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0003621	HP:0003621	Juvenile onset	0	HYAL1 CL E G H	3373	5320	OMIM:601492	Mucopolysaccharidosis type IX		28
HP:0003621	HP:0003621	Juvenile onset	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0003621	HP:0003621	Juvenile onset	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0003621	HP:0003621	Juvenile onset	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0003621	HP:0003621	Juvenile onset	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0003621	HP:0003621	Juvenile onset	0	IFNAR1 CL E G H	3454	5432	OMIM:619935
HP:0003621	HP:0003621	Juvenile onset	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0003621	HP:0003621	Juvenile onset	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0003621	HP:0003621	Juvenile onset	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14		51
HP:0003621	HP:0003621	Juvenile onset	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0003621	HP:0003621	Juvenile onset	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0003621	HP:0003621	Juvenile onset	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5		229
HP:0003621	HP:0003621	Juvenile onset	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0003621	HP:0003621	Juvenile onset	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0003621	HP:0003621	Juvenile onset	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0003621	HP:0003621	Juvenile onset	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0003621	HP:0003621	Juvenile onset	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0003621	HP:0003621	Juvenile onset	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0003621	HP:0003621	Juvenile onset	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0003621	HP:0003621	Juvenile onset	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0003621	HP:0003621	Juvenile onset	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0003621	HP:0003621	Juvenile onset	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0003621	HP:0003621	Juvenile onset	0	KCNT1 CL E G H	57582	18865	OMIM:615005	Epilepsy, nocturnal frontal lobe, 5		321
HP:0003621	HP:0003621	Juvenile onset	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0003621	HP:0003621	Juvenile onset	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8		1
HP:0003621	HP:0003621	Juvenile onset	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0003621	HP:0003621	Juvenile onset	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0003621	HP:0003621	Juvenile onset	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0003621	HP:0003621	Juvenile onset	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0003621	HP:0003621	Juvenile onset	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0003621	HP:0003621	Juvenile onset	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0003621	HP:0003621	Juvenile onset	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0003621	HP:0003621	Juvenile onset	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.	35
HP:0003621	HP:0003621	Juvenile onset	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		75
HP:0003621	HP:0003621	Juvenile onset	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0003621	HP:0003621	Juvenile onset	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0003621	HP:0003621	Juvenile onset	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.	74
HP:0003621	HP:0003621	Juvenile onset	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0003621	HP:0003621	Juvenile onset	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0003621	HP:0003621	Juvenile onset	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0003621	HP:0003621	Juvenile onset	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0003621	HP:0003621	Juvenile onset	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0003621	HP:0003621	Juvenile onset	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0003621	HP:0003621	Juvenile onset	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0003621	HP:0003621	Juvenile onset	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0003621	HP:0003621	Juvenile onset	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0003621	HP:0003621	Juvenile onset	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0003621	HP:0003621	Juvenile onset	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0003621	HP:0003621	Juvenile onset	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0003621	HP:0003621	Juvenile onset	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome		63
HP:0003621	HP:0003621	Juvenile 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:0003621	HP:0003621	Juvenile onset	0	MAP1B CL E G H	4131	6836	OMIM:619808	DEAFNESS, AUTOSOMAL DOMINANT 83; DFNA83
HP:0003621	HP:0003621	Juvenile onset	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0003621	HP:0003621	Juvenile onset	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0003621	HP:0003621	Juvenile onset	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency		81
HP:0003621	HP:0003621	Juvenile onset	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0003621	HP:0003621	Juvenile onset	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0003621	HP:0003621	Juvenile onset	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0003621	HP:0003621	Juvenile onset	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0003621	HP:0003621	Juvenile onset	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0003621	HP:0003621	Juvenile onset	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0003621	HP:0003621	Juvenile onset	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0003621	HP:0003621	Juvenile onset	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.	120
HP:0003621	HP:0003621	Juvenile onset	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0003621	HP:0003621	Juvenile onset	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0003621	HP:0003621	Juvenile onset	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0003621	HP:0003621	Juvenile onset	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0003621	HP:0003621	Juvenile onset	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0003621	HP:0003621	Juvenile onset	0	MOCOS CL E G H	55034	18234	OMIM:603592	Xanthinuria, type II		4
HP:0003621	HP:0003621	Juvenile onset	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0003621	HP:0003621	Juvenile onset	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.	56
HP:0003621	HP:0003621	Juvenile onset	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0003621	HP:0003621	Juvenile onset	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0003621	HP:0003621	Juvenile onset	0	MPZL2 CL E G H	10205	3496	OMIM:618145	Deafness, autosomal recessive 111
HP:0003621	HP:0003621	Juvenile onset	0	MSH5 CL E G H	4439	7328	OMIM:617442	Premature ovarian failure 13		5
HP:0003621	HP:0003621	Juvenile onset	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0003621	HP:0003621	Juvenile onset	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0003621	HP:0003621	Juvenile onset	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0003621	HP:0003621	Juvenile onset	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0003621	HP:0003621	Juvenile onset	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0003621	HP:0003621	Juvenile onset	0	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17	.	297
HP:0003621	HP:0003621	Juvenile onset	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8		95
HP:0003621	HP:0003621	Juvenile onset	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0003621	HP:0003621	Juvenile onset	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0003621	HP:0003621	Juvenile onset	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16		81
HP:0003621	HP:0003621	Juvenile onset	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk		217
HP:0003621	HP:0003621	Juvenile onset	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0003621	HP:0003621	Juvenile onset	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0003621	HP:0003621	Juvenile onset	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0003621	HP:0003621	Juvenile onset	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0003621	HP:0003621	Juvenile onset	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0003621	HP:0003621	Juvenile onset	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0003621	HP:0003621	Juvenile onset	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0003621	HP:0003621	Juvenile onset	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0003621	HP:0003621	Juvenile onset	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0003621	HP:0003621	Juvenile onset	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0003621	HP:0003621	Juvenile onset	0	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20		167
HP:0003621	HP:0003621	Juvenile onset	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0003621	HP:0003621	Juvenile onset	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0003621	HP:0003621	Juvenile onset	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2		27
HP:0003621	HP:0003621	Juvenile onset	0	NLGN3 CL E G H	54413	14289	OMIM:300494	Asperger syndrome, X-linked, susceptibility to, 1	.	24
HP:0003621	HP:0003621	Juvenile onset	0	NLGN4X CL E G H	57502	14287	OMIM:300497	Asperger syndrome susceptibility, X-linked 2	.	57
HP:0003621	HP:0003621	Juvenile onset	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.	217
HP:0003621	HP:0003621	Juvenile onset	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0003621	HP:0003621	Juvenile onset	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0003621	HP:0003621	Juvenile onset	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0003621	HP:0003621	Juvenile onset	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0003621	HP:0003621	Juvenile onset	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0003621	HP:0003621	Juvenile onset	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0003621	HP:0003621	Juvenile onset	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0003621	HP:0003621	Juvenile onset	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18		1
HP:0003621	HP:0003621	Juvenile onset	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0003621	HP:0003621	Juvenile onset	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0003621	HP:0003621	Juvenile onset	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0003621	HP:0003621	Juvenile onset	0	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0003621	HP:0003621	Juvenile onset	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0003621	HP:0003621	Juvenile onset	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0003621	HP:0003621	Juvenile onset	0	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0003621	HP:0003621	Juvenile onset	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0003621	HP:0003621	Juvenile onset	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0003621	HP:0003621	Juvenile onset	0	PAX9 CL E G H	5083	8623	OMIM:604625	Tooth agenesis, selective, 3		58
HP:0003621	HP:0003621	Juvenile onset	0	PDCD10 CL E G H	11235	8761	OMIM:603285	Cerebral cavernous malformations 3		21
HP:0003621	HP:0003621	Juvenile onset	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0003621	HP:0003621	Juvenile onset	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A		14
HP:0003621	HP:0003621	Juvenile onset	0	PDGFRB CL E G H	5159	8804	OMIM:615007	Basal ganglia calcification, idiopathic, 4		28
HP:0003621	HP:0003621	Juvenile onset	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0003621	HP:0003621	Juvenile onset	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0003621	HP:0003621	Juvenile onset	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency		21
HP:0003621	HP:0003621	Juvenile onset	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa		54
HP:0003621	HP:0003621	Juvenile onset	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc		48
HP:0003621	HP:0003621	Juvenile onset	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0003621	HP:0003621	Juvenile 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:0003621	HP:0003621	Juvenile onset	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0003621	HP:0003621	Juvenile onset	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0003621	HP:0003621	Juvenile onset	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0003621	HP:0003621	Juvenile onset	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0003621	HP:0003621	Juvenile onset	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2		106
HP:0003621	HP:0003621	Juvenile onset	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0003621	HP:0003621	Juvenile onset	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0003621	HP:0003621	Juvenile onset	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0003621	HP:0003621	Juvenile onset	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0003621	HP:0003621	Juvenile onset	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0003621	HP:0003621	Juvenile onset	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0003621	HP:0003621	Juvenile onset	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0003621	HP:0003621	Juvenile onset	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0003621	HP:0003621	Juvenile onset	0	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types		3
HP:0003621	HP:0003621	Juvenile onset	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	.	103
HP:0003621	HP:0003621	Juvenile onset	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0003621	HP:0003621	Juvenile onset	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0003621	HP:0003621	Juvenile onset	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003621	HP:0003621	Juvenile onset	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0003621	HP:0003621	Juvenile onset	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0003621	HP:0003621	Juvenile onset	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0003621	HP:0003621	Juvenile onset	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3		42
HP:0003621	HP:0003621	Juvenile onset	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8		148
HP:0003621	HP:0003621	Juvenile onset	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0003621	HP:0003621	Juvenile onset	0	PRDX3 CL E G H	10935	9354	OMIM:619871
HP:0003621	HP:0003621	Juvenile onset	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0003621	HP:0003621	Juvenile onset	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0003621	HP:0003621	Juvenile onset	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0003621	HP:0003621	Juvenile onset	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0003621	HP:0003621	Juvenile onset	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0003621	HP:0003621	Juvenile onset	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0003621	HP:0003621	Juvenile onset	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0003621	HP:0003621	Juvenile onset	0	PSMC3IP CL E G H	29893	17928	OMIM:614324	Ovarian dysgenesis 3		2
HP:0003621	HP:0003621	Juvenile onset	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0003621	HP:0003621	Juvenile onset	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0003621	HP:0003621	Juvenile onset	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0003621	HP:0003621	Juvenile onset	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn		212
HP:0003621	HP:0003621	Juvenile onset	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0003621	HP:0003621	Juvenile onset	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0003621	HP:0003621	Juvenile onset	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1		334
HP:0003621	HP:0003621	Juvenile onset	0	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0003621	HP:0003621	Juvenile onset	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.	54
HP:0003621	HP:0003621	Juvenile onset	0	RHBDF2 CL E G H	79651	20788	OMIM:148500	Tylosis with esophageal cancer		80
HP:0003621	HP:0003621	Juvenile onset	0	RIPOR2 CL E G H	9750	13872	OMIM:607017	Deafness, autosomal dominant 21		1
HP:0003621	HP:0003621	Juvenile onset	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15		3
HP:0003621	HP:0003621	Juvenile onset	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0003621	HP:0003621	Juvenile onset	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0003621	HP:0003621	Juvenile onset	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0003621	HP:0003621	Juvenile onset	0	RPS10 CL E G H	6204	10383	OMIM:613308	Diamond-Blackfan anemia 9		26
HP:0003621	HP:0003621	Juvenile onset	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0003621	HP:0003621	Juvenile onset	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2		1103
HP:0003621	HP:0003621	Juvenile 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:0003621	HP:0003621	Juvenile onset	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0003621	HP:0003621	Juvenile onset	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0003621	HP:0003621	Juvenile onset	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0003621	HP:0003621	Juvenile onset	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3		1053
HP:0003621	HP:0003621	Juvenile onset	0	SCN4B CL E G H	6330	10592	OMIM:611819	Long QT syndrome 10		110
HP:0003621	HP:0003621	Juvenile onset	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E		1134
HP:0003621	HP:0003621	Juvenile onset	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3		1134
HP:0003621	HP:0003621	Juvenile onset	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0003621	HP:0003621	Juvenile onset	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0003621	HP:0003621	Juvenile onset	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0003621	HP:0003621	Juvenile onset	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II		60
HP:0003621	HP:0003621	Juvenile onset	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0003621	HP:0003621	Juvenile onset	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease		3
HP:0003621	HP:0003621	Juvenile onset	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0003621	HP:0003621	Juvenile onset	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0003621	HP:0003621	Juvenile onset	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L		223
HP:0003621	HP:0003621	Juvenile onset	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0003621	HP:0003621	Juvenile onset	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0003621	HP:0003621	Juvenile onset	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14		8
HP:0003621	HP:0003621	Juvenile onset	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0003621	HP:0003621	Juvenile onset	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0003621	HP:0003621	Juvenile onset	0	SHANK3 CL E G H	85358	14294	OMIM:613950	Schizophrenia 15		53
HP:0003621	HP:0003621	Juvenile onset	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.	145
HP:0003621	HP:0003621	Juvenile onset	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate		2
HP:0003621	HP:0003621	Juvenile onset	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency		74
HP:0003621	HP:0003621	Juvenile onset	0	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type		3
HP:0003621	HP:0003621	Juvenile onset	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0003621	HP:0003621	Juvenile onset	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome		55
HP:0003621	HP:0003621	Juvenile 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:0003621	HP:0003621	Juvenile onset	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)		36
HP:0003621	HP:0003621	Juvenile onset	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2		255
HP:0003621	HP:0003621	Juvenile onset	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0003621	HP:0003621	Juvenile onset	0	SLC34A2 CL E G H	10568	11020	OMIM:265100	Pulmonary alveolar microlithiasis		7
HP:0003621	HP:0003621	Juvenile onset	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003621	HP:0003621	Juvenile onset	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0003621	HP:0003621	Juvenile onset	0	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant		2
HP:0003621	HP:0003621	Juvenile onset	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0003621	HP:0003621	Juvenile onset	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0003621	HP:0003621	Juvenile onset	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0003621	HP:0003621	Juvenile onset	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA		9
HP:0003621	HP:0003621	Juvenile onset	0	SLC6A2 CL E G H	6530	11048	OMIM:604715	ORTHOSTATIC INTOLERANCE		60
HP:0003621	HP:0003621	Juvenile onset	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0003621	HP:0003621	Juvenile onset	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0003621	HP:0003621	Juvenile onset	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0003621	HP:0003621	Juvenile onset	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0003621	HP:0003621	Juvenile onset	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0003621	HP:0003621	Juvenile onset	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0003621	HP:0003621	Juvenile onset	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts		6
HP:0003621	HP:0003621	Juvenile onset	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0003621	HP:0003621	Juvenile onset	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0003621	HP:0003621	Juvenile onset	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0003621	HP:0003621	Juvenile onset	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0003621	HP:0003621	Juvenile onset	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0003621	HP:0003621	Juvenile onset	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0003621	HP:0003621	Juvenile onset	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0003621	HP:0003621	Juvenile onset	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0003621	HP:0003621	Juvenile onset	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0003621	HP:0003621	Juvenile onset	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8		20
HP:0003621	HP:0003621	Juvenile onset	0	TBX18 CL E G H	9096	11595	OMIM:143400	Congenital anomalies of kidney and urinary tract 2		5
HP:0003621	HP:0003621	Juvenile onset	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0003621	HP:0003621	Juvenile onset	0	TECRL CL E G H	253017	27365	OMIM:614021	Ventricular tachycardia, catecholaminergic polymorphic, 3		4
HP:0003621	HP:0003621	Juvenile onset	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0003621	HP:0003621	Juvenile onset	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0003621	HP:0003621	Juvenile onset	0	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1		85
HP:0003621	HP:0003621	Juvenile onset	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane		58
HP:0003621	HP:0003621	Juvenile onset	0	TGFBR1 CL E G H	7046	11772	OMIM:132800	Multiple self-healing squamous epithelioma		239
HP:0003621	HP:0003621	Juvenile onset	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0003621	HP:0003621	Juvenile onset	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0003621	HP:0003621	Juvenile onset	0	TIE1 CL E G H	7075	11809	OMIM:619401	LYMPHATIC MALFORMATION 11; LMPHM11
HP:0003621	HP:0003621	Juvenile onset	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0003621	HP:0003621	Juvenile onset	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0003621	HP:0003621	Juvenile onset	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0003621	HP:0003621	Juvenile onset	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0003621	HP:0003621	Juvenile onset	0	TMC1 CL E G H	117531	16513	OMIM:600974	DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7		109
HP:0003621	HP:0003621	Juvenile onset	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003621	HP:0003621	Juvenile onset	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0003621	HP:0003621	Juvenile onset	0	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16	.	2
HP:0003621	HP:0003621	Juvenile onset	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13		73
HP:0003621	HP:0003621	Juvenile onset	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff		180
HP:0003621	HP:0003621	Juvenile onset	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0003621	HP:0003621	Juvenile onset	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.	71
HP:0003621	HP:0003621	Juvenile onset	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0003621	HP:0003621	Juvenile onset	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0003621	HP:0003621	Juvenile onset	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0003621	HP:0003621	Juvenile onset	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.	108
HP:0003621	HP:0003621	Juvenile onset	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0003621	HP:0003621	Juvenile 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:0003621	HP:0003621	Juvenile onset	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214
HP:0003621	HP:0003621	Juvenile onset	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0003621	HP:0003621	Juvenile onset	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0003621	HP:0003621	Juvenile onset	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity		1
HP:0003621	HP:0003621	Juvenile onset	0	TUBB4A CL E G H	10382	20774	OMIM:128101	Dystonia 4, torsion, autosomal dominant		66
HP:0003621	HP:0003621	Juvenile onset	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0003621	HP:0003621	Juvenile onset	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003621	HP:0003621	Juvenile onset	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0003621	HP:0003621	Juvenile onset	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0003621	HP:0003621	Juvenile onset	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0003621	HP:0003621	Juvenile onset	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0003621	HP:0003621	Juvenile onset	0	UMOD CL E G H	7369	12559	OMIM:162000	Hyperuricemic nephropathy, familial juvenile, 1	.	66
HP:0003621	HP:0003621	Juvenile onset	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0003621	HP:0003621	Juvenile onset	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0003621	HP:0003621	Juvenile onset	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant		2
HP:0003621	HP:0003621	Juvenile onset	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0003621	HP:0003621	Juvenile onset	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0003621	HP:0003621	Juvenile onset	0	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0003621	HP:0003621	Juvenile onset	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0003621	HP:0003621	Juvenile onset	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13		95
HP:0003621	HP:0003621	Juvenile onset	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8		95
HP:0003621	HP:0003621	Juvenile onset	0	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6		389
HP:0003621	HP:0003621	Juvenile onset	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1		389
HP:0003621	HP:0003621	Juvenile onset	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant		389
HP:0003621	HP:0003621	Juvenile onset	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0003621	HP:0003621	Juvenile onset	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0003621	HP:0003621	Juvenile onset	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58		27
HP:0003621	HP:0003621	Juvenile onset	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0003621	HP:0003621	Juvenile onset	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (476) :AAAS AARS1 ABCA4 ABCB7 ABHD12 ACO2 ACP5 ACTC1 ACTN2 ADA2 ADCY5 AFG3L2 AGBL5 AKAP9 ALDH18A1 ALDH5A1 ALG6 ALPK1 ANK1 ANKS6 ANLN ANO3 ANO5 AOPEP APRT APTX ARHGEF1 ARL3 ASAH1 ASS1 ATL1 ATN1 ATP11A ATP13A2 ATP1A1 ATP1A2 ATP1A3 ATP2B2 ATP2B3 ATP6AP2 ATP6V0A1 ATP7A ATP7B ATP8B1 B2M BAAT BAG5 BFSP1 BICD2 BIN1 BMP15 BSCL2 BTK BVES C19ORF12 C3 CACNA1A CACNA1C CACNA1H CACNB4 CALM1 CALM2 CAPN3 CARD10 CARD9 CARS2 CASK CASP10 CASQ2 CASR CAV1 CAV3 CBLIF CCDC39 CD19 CD4 CD46 CDH2 CEBPE CFAP410 CFH CFI CHM CHP1 CHRNA1 CHRNA2 CHST6 CIC CIDEC CLCN1 CLCN2 CLCN7 CLDN16 CLN3 COL2A1 COL6A3 COL9A1 COQ6 COX20 CPA6 CRB2 CSF1R CSTB CTNNA3 CTNNB1 CTNS CYBA CYBB CYP11B1 CYP2U1 CYP7B1 DAAM2 DBR1 DDB1 DDHD1 DEF6 DHDDS DHTKD1 DIAPH1 DIAPH3 DMD DNAH9 DNAJC3 DNAJC30 DNAJC6 DNASE1L3 DNM2 DOK7 DPM3 DPYD DSC2 DSG2 DSP DUT DYSF DZIP1L EFHC1 EGR2 EIF2AK2 EIF2AK4 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELF4 EMD ENPP1 EPRS1 ERCC4 EXT1 EXT2 FA2H FBN1 FDXR FHL1 FKTN FLNC FLRT3 FN1 FOCAD FOXC1 FSHR FTL FXN G6PD GAL GALNS GALNT3 GAN GANAB GBA2 GCDH GCK GFAP GFPT1 GIMAP5 GLA GLB1 GNAL GNAS GNPTAB H6PD HAVCR2 HCN4 HGSNAT HINT1 HK1 HPCA HPDL HPRT1 HPS3 HPS5 HSCB HSD11B1 HSPB8 HTRA1 HYAL1 HYDIN IDH3A IDS IFIH1 IFNAR1 IFT140 IKZF1 IL36RN IL6ST IMPG2 INSR IRF2BPL ISCU ITK ITPR1 JAG2 KCNA1 KCNJ2 KCNK3 KCNN2 KCNQ1 KCNT1 KCTD17 KIF12 KIF1A KIRREL1 KISS1 KLF1 KMT2B KPTN LAMA2 LDHA LGI1 LIG3 LIPA LITAF LMBRD1 LMNA LMNB2 LMX1B LPIN1 LRIG2 LRP12 LYRM7 MACF1 MAF MAFA MAFB MAGT1 MAP1B MARS2 MBD4 MCCC1 MCCC2 MCM3AP MCM6 MCM9 MECR MEFV MFSD8 MGME1 MICAL1 MIEF2 MLIP MMP2 MOCOS MORC2 MPV17 MPZ MPZL2 MSH5 MTRFR MYBPC3 MYH14 MYH7 MYH9 MYL3 MYMK MYOT MYOZ2 MYPN NAGLU NCF1 NCF2 NDRG1 NDUFAF6 NDUFS3 NDUFS8 NEFL NEXN NFKB1 NHLH2 NHP2 NLGN3 NLGN4X NLRP3 NPC1 NPHP1 NPHS2 NR0B1 NRCAM NUP107 NUP133 OFD1 OGDHL OTC OTULIN PANK2 PANK4 PAPPA2 PAX8 PAX9 PDCD10 PDE11A PDE6H PDGFRB PET117 PEX10 PGK1 PHKA2 PHKG2 PI4KA PIDD1 PIK3CD PIK3CG PIK3R1 PIK3R5 PKD2 PLA2G6 PLEKHG5 PLP1 PMP2 PMP22 PMVK PNPLA6 POLG POLR3A POLR3B POMGNT1 PPARG PRDM16 PRDX3 PRKAG2 PRKAR1A PRKG2 PRKN PRKRA PROC PRPF8 PSMC3IP PYGM PYROXD1 RAB7A RAF1 RCBTB1 REEP1 RELN REST RETREG1 RHBDF2 RIPOR2 RORB RP1 RP2 RPA1 RPS10 RYR1 RYR2 SAMD9L SBF1 SBF2 SCN1A SCN4B SCN5A SCN9A SCNN1G SEC23B SETX SFRP4 SGCA SGCB SGCD SGCE SGCG SGPL1 SH3BP2 SH3TC2 SHANK3 SLC12A3 SLC13A3 SLC16A1 SLC17A9 SLC19A1 SLC19A2 SLC19A3 SLC25A19 SLC2A1 SLC30A9 SLC34A2 SLC37A4 SLC39A14 SLC39A5 SLC4A1 SLC52A3 SLC5A6 SLC5A7 SLC6A2 SLC7A6OS SLCO2A1 SMAD9 SMN1 SMN2 SMPD1 SNORD118 SOCS1 SPG11 SPIDR SPTLC2 STAT1 STAT3 STT3A SVIL TACO1 TBK1 TBX18 TCF4 TECRL TERT TGFB1 TGFB3 TGFBI TGFBR1 THAP1 THRB TIE1 TINF2 TLCD3B TLR7 TLR8 TMC1 TMEM53 TNFAIP3 TNFRSF4 TNNC1 TNNI3 TNNT2 TNPO3 TOM1 TOR1AIP1 TPM2 TPM3 TPP1 TRDN TRPV4 TTPA TUB TUBB4A TULP3 TWNK TYMP TYMS UBAP1 UCHL1 UMOD UNC13D USP53 VAMP1 VHL VPS16 WARS1 WARS2 WDR19 WFS1 WRN ZMYND10 ZNF513 ZNFX1 ZSWIM7

Diseases (496) :OMIM:231550 OMIM:613287 OMIM:604116 OMIM:301310 OMIM:612674 OMIM:616289 OMIM:607944 OMIM:613424 OMIM:612098 OMIM:612158 OMIM:615688 OMIM:606703 OMIM:610246 OMIM:617023 OMIM:611820 OMIM:601162 OMIM:616586 OMIM:271980 OMIM:603147 OMIM:614979 OMIM:182900 OMIM:615382 OMIM:616032 OMIM:615034 OMIM:166260 OMIM:619565 OMIM:614723 OMIM:208920 OMIM:618459 OMIM:618173 OMIM:159950 OMIM:215700 OMIM:182600 OMIM:125370 OMIM:619810 OMIM:606693 OMIM:618036 OMIM:619605 OMIM:602481 OMIM:601338 OMIM:128235 OMIM:619804 OMIM:302500 OMIM:300911 OMIM:619971 OMIM:300489 OMIM:277900 OMIM:211600 OMIM:241600 OMIM:619232 OMIM:619747 OMIM:611391 OMIM:615290 OMIM:255200 OMIM:300510 OMIM:619112 OMIM:270685 OMIM:300755 OMIM:616812 OMIM:614298 OMIM:615043 OMIM:612925 OMIM:141500 OMIM:618447 OMIM:617027 OMIM:607682 OMIM:613855 OMIM:614916 OMIM:616249 OMIM:618129 OMIM:253600 OMIM:619632 OMIM:212050 OMIM:616672 OMIM:300908 OMIM:603909 OMIM:604772 OMIM:601198 OMIM:615343 OMIM:611818 OMIM:614321 OMIM:261000 OMIM:613807 OMIM:613493 OMIM:619238 OMIM:612922 OMIM:618920 OMIM:260570 OMIM:602271 OMIM:609814 OMIM:610984 OMIM:303100 OMIM:618438 OMIM:601462 OMIM:610353 OMIM:217800 OMIM:617600 OMIM:615238 OMIM:160800 OMIM:255700 OMIM:605635 OMIM:615651 OMIM:166600 OMIM:248250 OMIM:204200 OMIM:616583 OMIM:616411 OMIM:614135 OMIM:614650 OMIM:619054 OMIM:614417 OMIM:616220 OMIM:618476 OMIM:254800 OMIM:615616 OMIM:617572 OMIM:219750 OMIM:219900 OMIM:233690 OMIM:306400 OMIM:103900 OMIM:615030 OMIM:270800 OMIM:619263 OMIM:619441 OMIM:619426 OMIM:609340 OMIM:619573 OMIM:613861 OMIM:615025 OMIM:124900 OMIM:609129 OMIM:302045 OMIM:618300 OMIM:616192 OMIM:619382 OMIM:615528 OMIM:614420 OMIM:606482 OMIM:254300 OMIM:612937 OMIM:274270 OMIM:610476 OMIM:610193 OMIM:612908 OMIM:620044 OMIM:253601 OMIM:617610 OMIM:607631 OMIM:254770 OMIM:607678 OMIM:619687 OMIM:234810 OMIM:603896 OMIM:301074 OMIM:310300 OMIM:613312 OMIM:617951 OMIM:278760 OMIM:133700 OMIM:133701 OMIM:612319 OMIM:129600 OMIM:617717 OMIM:300718 OMIM:611615 OMIM:617047 OMIM:615271 OMIM:601894 OMIM:619991 OMIM:601631 OMIM:233300 OMIM:615604 OMIM:229300 OMIM:616461 OMIM:253000 OMIM:211900 OMIM:256850 OMIM:600666 OMIM:614409 OMIM:231670 OMIM:602485 OMIM:203450 OMIM:610542 OMIM:619463 OMIM:301500 OMIM:253010 OMIM:615073 OMIM:166350 OMIM:252600 OMIM:604931 OMIM:618398 OMIM:163800 OMIM:252930 OMIM:137200 OMIM:617460 OMIM:224500 OMIM:619027 OMIM:300322 OMIM:614072 OMIM:614074 OMIM:619523 OMIM:614662 OMIM:608673 OMIM:600142 OMIM:601492 OMIM:608647 OMIM:619007 OMIM:309900 OMIM:182250 OMIM:619935 OMIM:617781 OMIM:616873 OMIM:614204 OMIM:619752 OMIM:613581 OMIM:609968 OMIM:618088 OMIM:255125 OMIM:613011 OMIM:606658 OMIM:619566 OMIM:160120 OMIM:170390 OMIM:615344 OMIM:619724 OMIM:607554 OMIM:615005 OMIM:616398 OMIM:619662 OMIM:614213 OMIM:619201 OMIM:614842 OMIM:613673 OMIM:617284 OMIM:615637 OMIM:618138 OMIM:612933 OMIM:600512 OMIM:619780 OMIM:278000 OMIM:601098 OMIM:277380 OMIM:151660 OMIM:248370 OMIM:608709 OMIM:256020 OMIM:268200 OMIM:615112 OMIM:164310 OMIM:615838 OMIM:618325 OMIM:610202 OMIM:147630 OMIM:166300 OMIM:300853 OMIM:619808 OMIM:611390 OMIM:619975 OMIM:210200 OMIM:210210 OMIM:618124 OMIM:223100 OMIM:616185 OMIM:617282 OMIM:249100 OMIM:134610 OMIM:610951 OMIM:615084 OMIM:619024 OMIM:620138 OMIM:259600 OMIM:603592 OMIM:616688 OMIM:618400 OMIM:118200 OMIM:180800 OMIM:618145 OMIM:617442 OMIM:615035 OMIM:115197 OMIM:614369 OMIM:613426 OMIM:255160 OMIM:603622 OMIM:608751 OMIM:254940 OMIM:182920 OMIM:613838 OMIM:615248 OMIM:617336 OMIM:252920 OMIM:233700 OMIM:233710 OMIM:601455 OMIM:618913 OMIM:618230 OMIM:618222 OMIM:607684 OMIM:607734 OMIM:613876 OMIM:616576 OMIM:619755 OMIM:613987 OMIM:300494 OMIM:300497 OMIM:148200 OMIM:191900 OMIM:257220 OMIM:266900 OMIM:600995 OMIM:300200 OMIM:619833 OMIM:618348 OMIM:618177 OMIM:300424 OMIM:619701 OMIM:311250 OMIM:619986 OMIM:607236 OMIM:234200 OMIM:619593 OMIM:619489 OMIM:218700 OMIM:604625 OMIM:603285 OMIM:610475 OMIM:610024 OMIM:615007 OMIM:619063 OMIM:614871 OMIM:300653 OMIM:306000 OMIM:613027 OMIM:619621 OMIM:619827 OMIM:619281 OMIM:619802 OMIM:616005 OMIM:615217 OMIM:613095 OMIM:612953 OMIM:615376 OMIM:312920 OMIM:618279 OMIM:118300 OMIM:118220 OMIM:162500 OMIM:175800 OMIM:215470 OMIM:603041 OMIM:613662 OMIM:607459 OMIM:607694 OMIM:613157 OMIM:604367 OMIM:615373 OMIM:619862 OMIM:619871 OMIM:194200 OMIM:610489 OMIM:619638 OMIM:600116 OMIM:612067 OMIM:612304 OMIM:600059 OMIM:614324 OMIM:232600 OMIM:617258 OMIM:600882 OMIM:615916 OMIM:617175 OMIM:610250 OMIM:616806 OMIM:613115 OMIM:148500 OMIM:607017 OMIM:618357 OMIM:180100 OMIM:312600 OMIM:619767 OMIM:613308 OMIM:619542 OMIM:600996 OMIM:619806 OMIM:615284 OMIM:604563 OMIM:609634 OMIM:611819 OMIM:601154 OMIM:603830 OMIM:608567 OMIM:133020 OMIM:618114 OMIM:224100 OMIM:602433 OMIM:265900 OMIM:608099 OMIM:604286 OMIM:606685 OMIM:159900 OMIM:253700 OMIM:617575 OMIM:118400 OMIM:601596 OMIM:613950 OMIM:263800 OMIM:618384 OMIM:616095 OMIM:616063 OMIM:601775 OMIM:249270 OMIM:607483 OMIM:613710 OMIM:612126 OMIM:617595 OMIM:265100 OMIM:619525 OMIM:144755 OMIM:615946 OMIM:179800 OMIM:211530 OMIM:619903 OMIM:158580 OMIM:604715 OMIM:619191 OMIM:614441 OMIM:615342 OMIM:253400 OMIM:607616 OMIM:614561 OMIM:619375 OMIM:602099 OMIM:619665 OMIM:613640 OMIM:614162 OMIM:615952 OMIM:619714 OMIM:619040 OMIM:619052 OMIM:617900 OMIM:143400 OMIM:610954 OMIM:614021 OMIM:613989 OMIM:131300 OMIM:107970 OMIM:121820 OMIM:132800 OMIM:602629 OMIM:274300 OMIM:619401 OMIM:613990 OMIM:619531 OMIM:301080 OMIM:301078 OMIM:600974 OMIM:619727 OMIM:616744 OMIM:615593 OMIM:613243 OMIM:613286 OMIM:601494 OMIM:608423 OMIM:619510 OMIM:617072 OMIM:609285 OMIM:609284 OMIM:609270 OMIM:606835 OMIM:184252 OMIM:277460 OMIM:616188 OMIM:128101 OMIM:619902 OMIM:620040 OMIM:618418 OMIM:615491 OMIM:162000 OMIM:608898 OMIM:619658 OMIM:108600 OMIM:263400 OMIM:619291 OMIM:617721 OMIM:619738 OMIM:614377 OMIM:616307 OMIM:600965 OMIM:222300 OMIM:614296 OMIM:277700 OMIM:615444 OMIM:613617 OMIM:619644 OMIM:619834

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen