Human Phenotype Ontology

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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:
Abnormality of the optic nerve (HP:0000587)

Parent Node:
Abnormal optic disc morphology (HP:0012795)

..Starting node
..Optic atrophy (HP:0000648)

Term ID:

648

Name:

Optic atrophy

Synonym:

Optic nerve atrophy; Optic-nerve degeneration

Definition:

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Comments:

Reference:

HP:0000648

Genes and Diseases:

Child Nodes:

........

Optic atrophy from cranial nerve compression (HP:0007958)

Sister Nodes:

Increased cup-to-disc ratio (HP:0012796)

Optic disc drusen (HP:0012426)

Optic disc pallor (HP:0000543)

Papilledema (HP:0001085)

Pseudopapilledema (HP:0000538)

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:0000648	HP:0000648	Optic atrophy	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0000648	HP:0000648	Optic atrophy	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0000648	HP:0000648	Optic atrophy	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0000648	HP:0000648	Optic atrophy	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0000648	HP:0000648	Optic atrophy	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	90
HP:0000648	HP:0000648	Optic atrophy	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0000648	HP:0000648	Optic atrophy	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.	60
HP:0000648	HP:0000648	Optic atrophy	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent	120
HP:0000648	HP:0000648	Optic atrophy	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0000648	HP:0000648	Optic atrophy	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0000648	HP:0000648	Optic atrophy	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0000648	HP:0000648	Optic atrophy	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61	.
HP:0000648	HP:0000648	Optic atrophy	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0000648	HP:0000648	Optic atrophy	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	HP:0040283 - Occasional	6
HP:0000648	HP:0000648	Optic atrophy	0	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12		86
HP:0000648	HP:0000648	Optic atrophy	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000648	HP:0000648	Optic atrophy	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0000648	HP:0000648	Optic atrophy	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0000648	HP:0000648	Optic atrophy	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0000648	HP:0000648	Optic atrophy	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000648	HP:0000648	Optic atrophy	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	19
HP:0000648	HP:0000648	Optic atrophy	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0000648	HP:0000648	Optic atrophy	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0000648	HP:0000648	Optic atrophy	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0000648	HP:0000648	Optic atrophy	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0000648	HP:0000648	Optic atrophy	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0000648	HP:0000648	Optic atrophy	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000648	HP:0000648	Optic atrophy	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	7
HP:0000648	HP:0000648	Optic atrophy	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0000648	HP:0000648	Optic atrophy	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000648	HP:0000648	Optic atrophy	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000648	HP:0000648	Optic atrophy	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0000648	HP:0000648	Optic atrophy	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0000648	HP:0000648	Optic atrophy	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0000648	HP:0000648	Optic atrophy	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0000648	HP:0000648	Optic atrophy	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0000648	HP:0000648	Optic atrophy	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000648	HP:0000648	Optic atrophy	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000648	HP:0000648	Optic atrophy	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0000648	HP:0000648	Optic atrophy	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0000648	HP:0000648	Optic atrophy	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0000648	HP:0000648	Optic atrophy	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0000648	HP:0000648	Optic atrophy	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0000648	HP:0000648	Optic atrophy	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0000648	HP:0000648	Optic atrophy	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0000648	HP:0000648	Optic atrophy	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0000648	HP:0000648	Optic atrophy	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	239
HP:0000648	HP:0000648	Optic atrophy	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.	150
HP:0000648	HP:0000648	Optic atrophy	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040281 - Very frequent	150
HP:0000648	HP:0000648	Optic atrophy	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	150
HP:0000648	HP:0000648	Optic atrophy	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0000648	HP:0000648	Optic atrophy	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000648	HP:0000648	Optic atrophy	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0000648	HP:0000648	Optic atrophy	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional	169
HP:0000648	HP:0000648	Optic atrophy	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000648	HP:0000648	Optic atrophy	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0000648	HP:0000648	Optic atrophy	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional	19
HP:0000648	HP:0000648	Optic atrophy	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II		8
HP:0000648	HP:0000648	Optic atrophy	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I		49
HP:0000648	HP:0000648	Optic atrophy	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	43
HP:0000648	HP:0000648	Optic atrophy	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0000648	HP:0000648	Optic atrophy	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000648	HP:0000648	Optic atrophy	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0000648	HP:0000648	Optic atrophy	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000648	HP:0000648	Optic atrophy	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000648	HP:0000648	Optic atrophy	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0000648	HP:0000648	Optic atrophy	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0000648	HP:0000648	Optic atrophy	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	HP:0040283 - Occasional	8
HP:0000648	HP:0000648	Optic atrophy	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional	8
HP:0000648	HP:0000648	Optic atrophy	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0000648	HP:0000648	Optic atrophy	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	HP:0040283 - Occasional	14
HP:0000648	HP:0000648	Optic atrophy	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	276
HP:0000648	HP:0000648	Optic atrophy	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	276
HP:0000648	HP:0000648	Optic atrophy	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	HP:0040283 - Occasional	20
HP:0000648	HP:0000648	Optic atrophy	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0000648	HP:0000648	Optic atrophy	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0000648	HP:0000648	Optic atrophy	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0000648	HP:0000648	Optic atrophy	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0000648	HP:0000648	Optic atrophy	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0000648	HP:0000648	Optic atrophy	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040283 - Occasional	29
HP:0000648	HP:0000648	Optic atrophy	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0000648	HP:0000648	Optic atrophy	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	449
HP:0000648	HP:0000648	Optic atrophy	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0000648	HP:0000648	Optic atrophy	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	59
HP:0000648	HP:0000648	Optic atrophy	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional	118
HP:0000648	HP:0000648	Optic atrophy	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional	272
HP:0000648	HP:0000648	Optic atrophy	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0000648	HP:0000648	Optic atrophy	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional	242
HP:0000648	HP:0000648	Optic atrophy	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000648	HP:0000648	Optic atrophy	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0000648	HP:0000648	Optic atrophy	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0000648	HP:0000648	Optic atrophy	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000648	HP:0000648	Optic atrophy	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000648	HP:0000648	Optic atrophy	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0000648	HP:0000648	Optic atrophy	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000648	HP:0000648	Optic atrophy	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0000648	HP:0000648	Optic atrophy	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0000648	HP:0000648	Optic atrophy	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000648	HP:0000648	Optic atrophy	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0000648	HP:0000648	Optic atrophy	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0000648	HP:0000648	Optic atrophy	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent	3
HP:0000648	HP:0000648	Optic atrophy	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0000648	HP:0000648	Optic atrophy	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0000648	HP:0000648	Optic atrophy	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0000648	HP:0000648	Optic atrophy	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000648	HP:0000648	Optic atrophy	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040282 - Frequent	102
HP:0000648	HP:0000648	Optic atrophy	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis		102
HP:0000648	HP:0000648	Optic atrophy	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0000648	HP:0000648	Optic atrophy	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.	216
HP:0000648	HP:0000648	Optic atrophy	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0000648	HP:0000648	Optic atrophy	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040284 - Very rare	7
HP:0000648	HP:0000648	Optic atrophy	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0000648	HP:0000648	Optic atrophy	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000648	HP:0000648	Optic atrophy	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0000648	HP:0000648	Optic atrophy	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0000648	HP:0000648	Optic atrophy	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	18
HP:0000648	HP:0000648	Optic atrophy	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040282 - Frequent	61
HP:0000648	HP:0000648	Optic atrophy	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000648	HP:0000648	Optic atrophy	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000648	HP:0000648	Optic atrophy	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0000648	HP:0000648	Optic atrophy	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000648	HP:0000648	Optic atrophy	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0000648	HP:0000648	Optic atrophy	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0000648	HP:0000648	Optic atrophy	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000648	HP:0000648	Optic atrophy	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0000648	HP:0000648	Optic atrophy	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0000648	HP:0000648	Optic atrophy	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	HP:0040284 - Very rare	149
HP:0000648	HP:0000648	Optic atrophy	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0000648	HP:0000648	Optic atrophy	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000648	HP:0000648	Optic atrophy	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0000648	HP:0000648	Optic atrophy	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	88
HP:0000648	HP:0000648	Optic atrophy	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	HP:0040284 - Very rare	88
HP:0000648	HP:0000648	Optic atrophy	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000648	HP:0000648	Optic atrophy	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0000648	HP:0000648	Optic atrophy	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0000648	HP:0000648	Optic atrophy	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0000648	HP:0000648	Optic atrophy	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare	60
HP:0000648	HP:0000648	Optic atrophy	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	30
HP:0000648	HP:0000648	Optic atrophy	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	HP:0040284 - Very rare	6
HP:0000648	HP:0000648	Optic atrophy	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional	57
HP:0000648	HP:0000648	Optic atrophy	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000648	HP:0000648	Optic atrophy	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	47
HP:0000648	HP:0000648	Optic atrophy	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000648	HP:0000648	Optic atrophy	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000648	HP:0000648	Optic atrophy	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.	118
HP:0000648	HP:0000648	Optic atrophy	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0000648	HP:0000648	Optic atrophy	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0000648	HP:0000648	Optic atrophy	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0000648	HP:0000648	Optic atrophy	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	72
HP:0000648	HP:0000648	Optic atrophy	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040281 - Very frequent	94
HP:0000648	HP:0000648	Optic atrophy	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	94
HP:0000648	HP:0000648	Optic atrophy	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.	94
HP:0000648	HP:0000648	Optic atrophy	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0000648	HP:0000648	Optic atrophy	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040282 - Frequent	145
HP:0000648	HP:0000648	Optic atrophy	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	HP:0040283 - Occasional	145
HP:0000648	HP:0000648	Optic atrophy	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional	18
HP:0000648	HP:0000648	Optic atrophy	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0000648	HP:0000648	Optic atrophy	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0000648	HP:0000648	Optic atrophy	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0000648	HP:0000648	Optic atrophy	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	HP:0040282 - Frequent	26
HP:0000648	HP:0000648	Optic atrophy	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0000648	HP:0000648	Optic atrophy	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.	144
HP:0000648	HP:0000648	Optic atrophy	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0000648	HP:0000648	Optic atrophy	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	60
HP:0000648	HP:0000648	Optic atrophy	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0000648	HP:0000648	Optic atrophy	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0000648	HP:0000648	Optic atrophy	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0000648	HP:0000648	Optic atrophy	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0000648	HP:0000648	Optic atrophy	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0000648	HP:0000648	Optic atrophy	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional	133
HP:0000648	HP:0000648	Optic atrophy	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0000648	HP:0000648	Optic atrophy	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0000648	HP:0000648	Optic atrophy	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional	5
HP:0000648	HP:0000648	Optic atrophy	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040282 - Frequent	40
HP:0000648	HP:0000648	Optic atrophy	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000648	HP:0000648	Optic atrophy	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040283 - Occasional	20
HP:0000648	HP:0000648	Optic atrophy	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040283 - Occasional	106
HP:0000648	HP:0000648	Optic atrophy	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	106
HP:0000648	HP:0000648	Optic atrophy	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0000648	HP:0000648	Optic atrophy	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	54
HP:0000648	HP:0000648	Optic atrophy	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0000648	HP:0000648	Optic atrophy	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0000648	HP:0000648	Optic atrophy	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0000648	HP:0000648	Optic atrophy	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	158
HP:0000648	HP:0000648	Optic atrophy	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0000648	HP:0000648	Optic atrophy	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0000648	HP:0000648	Optic atrophy	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040283 - Occasional	83
HP:0000648	HP:0000648	Optic atrophy	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	83
HP:0000648	HP:0000648	Optic atrophy	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0000648	HP:0000648	Optic atrophy	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0000648	HP:0000648	Optic atrophy	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0000648	HP:0000648	Optic atrophy	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040283 - Occasional	199
HP:0000648	HP:0000648	Optic atrophy	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0000648	HP:0000648	Optic atrophy	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0000648	HP:0000648	Optic atrophy	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0000648	HP:0000648	Optic atrophy	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0000648	HP:0000648	Optic atrophy	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0000648	HP:0000648	Optic atrophy	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000648	HP:0000648	Optic atrophy	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0000648	HP:0000648	Optic atrophy	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000648	HP:0000648	Optic atrophy	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0000648	HP:0000648	Optic atrophy	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040284 - Very rare	76
HP:0000648	HP:0000648	Optic atrophy	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0000648	HP:0000648	Optic atrophy	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0000648	HP:0000648	Optic atrophy	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0000648	HP:0000648	Optic atrophy	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000648	HP:0000648	Optic atrophy	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000648	HP:0000648	Optic atrophy	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000648	HP:0000648	Optic atrophy	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0000648	HP:0000648	Optic atrophy	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000648	HP:0000648	Optic atrophy	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0000648	HP:0000648	Optic atrophy	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000648	HP:0000648	Optic atrophy	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0000648	HP:0000648	Optic atrophy	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	175
HP:0000648	HP:0000648	Optic atrophy	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040283 - Occasional	145
HP:0000648	HP:0000648	Optic atrophy	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	145
HP:0000648	HP:0000648	Optic atrophy	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0000648	HP:0000648	Optic atrophy	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0000648	HP:0000648	Optic atrophy	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	157
HP:0000648	HP:0000648	Optic atrophy	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000648	HP:0000648	Optic atrophy	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0000648	HP:0000648	Optic atrophy	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040283 - Occasional	184
HP:0000648	HP:0000648	Optic atrophy	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	184
HP:0000648	HP:0000648	Optic atrophy	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000648	HP:0000648	Optic atrophy	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0000648	HP:0000648	Optic atrophy	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0000648	HP:0000648	Optic atrophy	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	111
HP:0000648	HP:0000648	Optic atrophy	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0000648	HP:0000648	Optic atrophy	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	HP:0040284 - Very rare	61
HP:0000648	HP:0000648	Optic atrophy	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0000648	HP:0000648	Optic atrophy	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0000648	HP:0000648	Optic atrophy	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30		26
HP:0000648	HP:0000648	Optic atrophy	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent	18
HP:0000648	HP:0000648	Optic atrophy	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0000648	HP:0000648	Optic atrophy	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0000648	HP:0000648	Optic atrophy	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	4
HP:0000648	HP:0000648	Optic atrophy	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	44
HP:0000648	HP:0000648	Optic atrophy	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0000648	HP:0000648	Optic atrophy	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	139
HP:0000648	HP:0000648	Optic atrophy	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0000648	HP:0000648	Optic atrophy	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0000648	HP:0000648	Optic atrophy	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	HP:0040284 - Very rare	1
HP:0000648	HP:0000648	Optic atrophy	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0000648	HP:0000648	Optic atrophy	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0000648	HP:0000648	Optic atrophy	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0000648	HP:0000648	Optic atrophy	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0000648	HP:0000648	Optic atrophy	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0000648	HP:0000648	Optic atrophy	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0000648	HP:0000648	Optic atrophy	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0000648	HP:0000648	Optic atrophy	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0000648	HP:0000648	Optic atrophy	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0000648	HP:0000648	Optic atrophy	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	34
HP:0000648	HP:0000648	Optic atrophy	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional	16
HP:0000648	HP:0000648	Optic atrophy	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040282 - Frequent	7
HP:0000648	HP:0000648	Optic atrophy	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000648	HP:0000648	Optic atrophy	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000648	HP:0000648	Optic atrophy	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0000648	HP:0000648	Optic atrophy	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	.	126
HP:0000648	HP:0000648	Optic atrophy	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000648	HP:0000648	Optic atrophy	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0000648	HP:0000648	Optic atrophy	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	54
HP:0000648	HP:0000648	Optic atrophy	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0000648	HP:0000648	Optic atrophy	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	HP:0040283 - Occasional	3
HP:0000648	HP:0000648	Optic atrophy	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000648	HP:0000648	Optic atrophy	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000648	HP:0000648	Optic atrophy	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0000648	HP:0000648	Optic atrophy	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0000648	HP:0000648	Optic atrophy	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional	19
HP:0000648	HP:0000648	Optic atrophy	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0000648	HP:0000648	Optic atrophy	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0000648	HP:0000648	Optic atrophy	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0000648	HP:0000648	Optic atrophy	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040283 - Occasional	16
HP:0000648	HP:0000648	Optic atrophy	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0000648	HP:0000648	Optic atrophy	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0000648	HP:0000648	Optic atrophy	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000648	HP:0000648	Optic atrophy	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0000648	HP:0000648	Optic atrophy	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0000648	HP:0000648	Optic atrophy	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0000648	HP:0000648	Optic atrophy	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0000648	HP:0000648	Optic atrophy	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000648	HP:0000648	Optic atrophy	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000648	HP:0000648	Optic atrophy	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0000648	HP:0000648	Optic atrophy	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0000648	HP:0000648	Optic atrophy	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000648	HP:0000648	Optic atrophy	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0000648	HP:0000648	Optic atrophy	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional	7
HP:0000648	HP:0000648	Optic atrophy	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0000648	HP:0000648	Optic atrophy	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.	7
HP:0000648	HP:0000648	Optic atrophy	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000648	HP:0000648	Optic atrophy	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000648	HP:0000648	Optic atrophy	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000648	HP:0000648	Optic atrophy	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0000648	HP:0000648	Optic atrophy	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional	34
HP:0000648	HP:0000648	Optic atrophy	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	13
HP:0000648	HP:0000648	Optic atrophy	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0000648	HP:0000648	Optic atrophy	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	65
HP:0000648	HP:0000648	Optic atrophy	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0000648	HP:0000648	Optic atrophy	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional	17
HP:0000648	HP:0000648	Optic atrophy	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions		106
HP:0000648	HP:0000648	Optic atrophy	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional	106
HP:0000648	HP:0000648	Optic atrophy	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional	46
HP:0000648	HP:0000648	Optic atrophy	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000648	HP:0000648	Optic atrophy	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	HP:0040283 - Occasional	276
HP:0000648	HP:0000648	Optic atrophy	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0000648	HP:0000648	Optic atrophy	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	HP:0040283 - Occasional	167
HP:0000648	HP:0000648	Optic atrophy	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000648	HP:0000648	Optic atrophy	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0000648	HP:0000648	Optic atrophy	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040281 - Very frequent	1
HP:0000648	HP:0000648	Optic atrophy	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0000648	HP:0000648	Optic atrophy	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0000648	HP:0000648	Optic atrophy	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	196
HP:0000648	HP:0000648	Optic atrophy	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0000648	HP:0000648	Optic atrophy	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent	71
HP:0000648	HP:0000648	Optic atrophy	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0000648	HP:0000648	Optic atrophy	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	136
HP:0000648	HP:0000648	Optic atrophy	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000648	HP:0000648	Optic atrophy	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.	136
HP:0000648	HP:0000648	Optic atrophy	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0000648	HP:0000648	Optic atrophy	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0000648	HP:0000648	Optic atrophy	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000648	HP:0000648	Optic atrophy	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0000648	HP:0000648	Optic atrophy	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0000648	HP:0000648	Optic atrophy	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040283 - Occasional	124
HP:0000648	HP:0000648	Optic atrophy	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional	125
HP:0000648	HP:0000648	Optic atrophy	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0000648	HP:0000648	Optic atrophy	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0000648	HP:0000648	Optic atrophy	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	134
HP:0000648	HP:0000648	Optic atrophy	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional	178
HP:0000648	HP:0000648	Optic atrophy	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0000648	HP:0000648	Optic atrophy	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.	6
HP:0000648	HP:0000648	Optic atrophy	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0000648	HP:0000648	Optic atrophy	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0000648	HP:0000648	Optic atrophy	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.	17
HP:0000648	HP:0000648	Optic atrophy	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0000648	HP:0000648	Optic atrophy	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040284 - Very rare	203
HP:0000648	HP:0000648	Optic atrophy	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.	203
HP:0000648	HP:0000648	Optic atrophy	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	HP:0040283 - Occasional	203
HP:0000648	HP:0000648	Optic atrophy	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0000648	HP:0000648	Optic atrophy	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.	120
HP:0000648	HP:0000648	Optic atrophy	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040283 - Occasional	33
HP:0000648	HP:0000648	Optic atrophy	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000648	HP:0000648	Optic atrophy	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs	HP:0040283 - Occasional	14
HP:0000648	HP:0000648	Optic atrophy	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040283 - Occasional	14
HP:0000648	HP:0000648	Optic atrophy	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101		7
HP:0000648	HP:0000648	Optic atrophy	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0000648	HP:0000648	Optic atrophy	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000648	HP:0000648	Optic atrophy	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0000648	HP:0000648	Optic atrophy	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent	101
HP:0000648	HP:0000648	Optic atrophy	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0000648	HP:0000648	Optic atrophy	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0000648	HP:0000648	Optic atrophy	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.	32
HP:0000648	HP:0000648	Optic atrophy	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0000648	HP:0000648	Optic atrophy	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	HP:0040284 - Very rare	29
HP:0000648	HP:0000648	Optic atrophy	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0000648	HP:0000648	Optic atrophy	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.	1
HP:0000648	HP:0000648	Optic atrophy	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional	29
HP:0000648	HP:0000648	Optic atrophy	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0000648	HP:0000648	Optic atrophy	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27	.	29
HP:0000648	HP:0000648	Optic atrophy	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040284 - Very rare	183
HP:0000648	HP:0000648	Optic atrophy	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	HP:0040283 - Occasional	39
HP:0000648	HP:0000648	Optic atrophy	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	68
HP:0000648	HP:0000648	Optic atrophy	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent	19
HP:0000648	HP:0000648	Optic atrophy	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0000648	HP:0000648	Optic atrophy	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0000648	HP:0000648	Optic atrophy	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0000648	HP:0000648	Optic atrophy	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000648	HP:0000648	Optic atrophy	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040283 - Occasional	35
HP:0000648	HP:0000648	Optic atrophy	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent	47
HP:0000648	HP:0000648	Optic atrophy	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.	47
HP:0000648	HP:0000648	Optic atrophy	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0000648	HP:0000648	Optic atrophy	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0000648	HP:0000648	Optic atrophy	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0000648	HP:0000648	Optic atrophy	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000648	HP:0000648	Optic atrophy	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	39
HP:0000648	HP:0000648	Optic atrophy	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.	32
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	HP:0040284 - Very rare	1
HP:0000648	HP:0000648	Optic atrophy	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0000648	HP:0000648	Optic atrophy	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0000648	HP:0000648	Optic atrophy	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	HP:0040284 - Very rare	26
HP:0000648	HP:0000648	Optic atrophy	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	31
HP:0000648	HP:0000648	Optic atrophy	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.	50
HP:0000648	HP:0000648	Optic atrophy	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0000648	HP:0000648	Optic atrophy	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16	HP:0040284 - Very rare	34
HP:0000648	HP:0000648	Optic atrophy	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0000648	HP:0000648	Optic atrophy	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0000648	HP:0000648	Optic atrophy	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent	65
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	65
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0000648	HP:0000648	Optic atrophy	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0000648	HP:0000648	Optic atrophy	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0000648	HP:0000648	Optic atrophy	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0000648	HP:0000648	Optic atrophy	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.	27
HP:0000648	HP:0000648	Optic atrophy	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000648	HP:0000648	Optic atrophy	0	NEDD4L CL E G H	23327	7728	OMIM:617201	Periventricular nodular heterotopia 7	HP:0040283 - Occasional	30
HP:0000648	HP:0000648	Optic atrophy	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000648	HP:0000648	Optic atrophy	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0000648	HP:0000648	Optic atrophy	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0000648	HP:0000648	Optic atrophy	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040283 - Occasional	40
HP:0000648	HP:0000648	Optic atrophy	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040284 - Very rare	32
HP:0000648	HP:0000648	Optic atrophy	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000648	HP:0000648	Optic atrophy	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0000648	HP:0000648	Optic atrophy	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.	15
HP:0000648	HP:0000648	Optic atrophy	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0000648	HP:0000648	Optic atrophy	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.	37
HP:0000648	HP:0000648	Optic atrophy	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040282 - Frequent	37
HP:0000648	HP:0000648	Optic atrophy	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0000648	HP:0000648	Optic atrophy	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000648	HP:0000648	Optic atrophy	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0000648	HP:0000648	Optic atrophy	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040283 - Occasional	15
HP:0000648	HP:0000648	Optic atrophy	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0000648	HP:0000648	Optic atrophy	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0000648	HP:0000648	Optic atrophy	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	8
HP:0000648	HP:0000648	Optic atrophy	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0000648	HP:0000648	Optic atrophy	0	NUP62 CL E G H	23636	8066	OMIM:271930	Striatonigral degeneration, infantile	.	7
HP:0000648	HP:0000648	Optic atrophy	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000648	HP:0000648	Optic atrophy	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0000648	HP:0000648	Optic atrophy	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0000648	HP:0000648	Optic atrophy	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040281 - Very frequent	214
HP:0000648	HP:0000648	Optic atrophy	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040281 - Very frequent	214
HP:0000648	HP:0000648	Optic atrophy	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0000648	HP:0000648	Optic atrophy	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0000648	HP:0000648	Optic atrophy	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0000648	HP:0000648	Optic atrophy	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III		163
HP:0000648	HP:0000648	Optic atrophy	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040281 - Very frequent	163
HP:0000648	HP:0000648	Optic atrophy	0	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3		163
HP:0000648	HP:0000648	Optic atrophy	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0000648	HP:0000648	Optic atrophy	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0000648	HP:0000648	Optic atrophy	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000648	HP:0000648	Optic atrophy	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040284 - Very rare	55
HP:0000648	HP:0000648	Optic atrophy	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0000648	HP:0000648	Optic atrophy	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.	14
HP:0000648	HP:0000648	Optic atrophy	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	14
HP:0000648	HP:0000648	Optic atrophy	0	PAX6 CL E G H	5080	8620	ORPHA:2253	Foveal hypoplasia-presenile cataract syndrome	HP:0040281 - Very frequent	194
HP:0000648	HP:0000648	Optic atrophy	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.	53
HP:0000648	HP:0000648	Optic atrophy	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000648	HP:0000648	Optic atrophy	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000648	HP:0000648	Optic atrophy	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0000648	HP:0000648	Optic atrophy	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0000648	HP:0000648	Optic atrophy	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0000648	HP:0000648	Optic atrophy	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0000648	HP:0000648	Optic atrophy	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0000648	HP:0000648	Optic atrophy	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0000648	HP:0000648	Optic atrophy	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0000648	HP:0000648	Optic atrophy	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	169
HP:0000648	HP:0000648	Optic atrophy	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0000648	HP:0000648	Optic atrophy	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.	169
HP:0000648	HP:0000648	Optic atrophy	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0000648	HP:0000648	Optic atrophy	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	75
HP:0000648	HP:0000648	Optic atrophy	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0000648	HP:0000648	Optic atrophy	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0000648	HP:0000648	Optic atrophy	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	4
HP:0000648	HP:0000648	Optic atrophy	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0000648	HP:0000648	Optic atrophy	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0000648	HP:0000648	Optic atrophy	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	65
HP:0000648	HP:0000648	Optic atrophy	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0000648	HP:0000648	Optic atrophy	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0000648	HP:0000648	Optic atrophy	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	66
HP:0000648	HP:0000648	Optic atrophy	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0000648	HP:0000648	Optic atrophy	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0000648	HP:0000648	Optic atrophy	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	46
HP:0000648	HP:0000648	Optic atrophy	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0000648	HP:0000648	Optic atrophy	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0000648	HP:0000648	Optic atrophy	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	59
HP:0000648	HP:0000648	Optic atrophy	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0000648	HP:0000648	Optic atrophy	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0000648	HP:0000648	Optic atrophy	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0000648	HP:0000648	Optic atrophy	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	62
HP:0000648	HP:0000648	Optic atrophy	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0000648	HP:0000648	Optic atrophy	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0000648	HP:0000648	Optic atrophy	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	82
HP:0000648	HP:0000648	Optic atrophy	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0000648	HP:0000648	Optic atrophy	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0000648	HP:0000648	Optic atrophy	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	106
HP:0000648	HP:0000648	Optic atrophy	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0000648	HP:0000648	Optic atrophy	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0000648	HP:0000648	Optic atrophy	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	47
HP:0000648	HP:0000648	Optic atrophy	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0000648	HP:0000648	Optic atrophy	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0000648	HP:0000648	Optic atrophy	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	99
HP:0000648	HP:0000648	Optic atrophy	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0000648	HP:0000648	Optic atrophy	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0000648	HP:0000648	Optic atrophy	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0000648	HP:0000648	Optic atrophy	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional	98
HP:0000648	HP:0000648	Optic atrophy	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0000648	HP:0000648	Optic atrophy	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0000648	HP:0000648	Optic atrophy	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0000648	HP:0000648	Optic atrophy	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0000648	HP:0000648	Optic atrophy	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent	77
HP:0000648	HP:0000648	Optic atrophy	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0000648	HP:0000648	Optic atrophy	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000648	HP:0000648	Optic atrophy	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional	162
HP:0000648	HP:0000648	Optic atrophy	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040283 - Occasional	162
HP:0000648	HP:0000648	Optic atrophy	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0000648	HP:0000648	Optic atrophy	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0000648	HP:0000648	Optic atrophy	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0000648	HP:0000648	Optic atrophy	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.	133
HP:0000648	HP:0000648	Optic atrophy	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000648	HP:0000648	Optic atrophy	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0000648	HP:0000648	Optic atrophy	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis		2
HP:0000648	HP:0000648	Optic atrophy	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0000648	HP:0000648	Optic atrophy	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	HP:0040283 - Occasional	11
HP:0000648	HP:0000648	Optic atrophy	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040283 - Occasional	60
HP:0000648	HP:0000648	Optic atrophy	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0000648	HP:0000648	Optic atrophy	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0000648	HP:0000648	Optic atrophy	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040282 - Frequent	60
HP:0000648	HP:0000648	Optic atrophy	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent	103
HP:0000648	HP:0000648	Optic atrophy	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000648	HP:0000648	Optic atrophy	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0000648	HP:0000648	Optic atrophy	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	HP:0040283 - Occasional	464
HP:0000648	HP:0000648	Optic atrophy	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B		45
HP:0000648	HP:0000648	Optic atrophy	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040283 - Occasional	138
HP:0000648	HP:0000648	Optic atrophy	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040283 - Occasional	138
HP:0000648	HP:0000648	Optic atrophy	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000648	HP:0000648	Optic atrophy	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	HP:0040283 - Occasional	67
HP:0000648	HP:0000648	Optic atrophy	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0000648	HP:0000648	Optic atrophy	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000648	HP:0000648	Optic atrophy	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0000648	HP:0000648	Optic atrophy	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	180
HP:0000648	HP:0000648	Optic atrophy	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0000648	HP:0000648	Optic atrophy	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0000648	HP:0000648	Optic atrophy	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0000648	HP:0000648	Optic atrophy	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0000648	HP:0000648	Optic atrophy	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0000648	HP:0000648	Optic atrophy	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0000648	HP:0000648	Optic atrophy	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0000648	HP:0000648	Optic atrophy	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0000648	HP:0000648	Optic atrophy	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	213
HP:0000648	HP:0000648	Optic atrophy	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000648	HP:0000648	Optic atrophy	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0000648	HP:0000648	Optic atrophy	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0000648	HP:0000648	Optic atrophy	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	221
HP:0000648	HP:0000648	Optic atrophy	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000648	HP:0000648	Optic atrophy	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0000648	HP:0000648	Optic atrophy	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000648	HP:0000648	Optic atrophy	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0000648	HP:0000648	Optic atrophy	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000648	HP:0000648	Optic atrophy	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0000648	HP:0000648	Optic atrophy	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	172
HP:0000648	HP:0000648	Optic atrophy	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0000648	HP:0000648	Optic atrophy	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0000648	HP:0000648	Optic atrophy	0	PRICKLE3 CL E G H	4007	6645	OMIM:308905	Leber optic atrophy, susceptibility to	.	1
HP:0000648	HP:0000648	Optic atrophy	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0000648	HP:0000648	Optic atrophy	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0000648	HP:0000648	Optic atrophy	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000648	HP:0000648	Optic atrophy	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0000648	HP:0000648	Optic atrophy	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000648	HP:0000648	Optic atrophy	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0000648	HP:0000648	Optic atrophy	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0000648	HP:0000648	Optic atrophy	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0000648	HP:0000648	Optic atrophy	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0000648	HP:0000648	Optic atrophy	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.	49
HP:0000648	HP:0000648	Optic atrophy	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0000648	HP:0000648	Optic atrophy	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040281 - Very frequent	49
HP:0000648	HP:0000648	Optic atrophy	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	HP:0040284 - Very rare	8
HP:0000648	HP:0000648	Optic atrophy	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0000648	HP:0000648	Optic atrophy	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	HP:0040283 - Occasional	81
HP:0000648	HP:0000648	Optic atrophy	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0000648	HP:0000648	Optic atrophy	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0000648	HP:0000648	Optic atrophy	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0000648	HP:0000648	Optic atrophy	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0000648	HP:0000648	Optic atrophy	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000648	HP:0000648	Optic atrophy	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0000648	HP:0000648	Optic atrophy	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000648	HP:0000648	Optic atrophy	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0000648	HP:0000648	Optic atrophy	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0000648	HP:0000648	Optic atrophy	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000648	HP:0000648	Optic atrophy	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0000648	HP:0000648	Optic atrophy	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000648	HP:0000648	Optic atrophy	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0000648	HP:0000648	Optic atrophy	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0000648	HP:0000648	Optic atrophy	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000648	HP:0000648	Optic atrophy	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	HP:0040283 - Occasional	16
HP:0000648	HP:0000648	Optic atrophy	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare	16
HP:0000648	HP:0000648	Optic atrophy	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0000648	HP:0000648	Optic atrophy	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000648	HP:0000648	Optic atrophy	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000648	HP:0000648	Optic atrophy	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000648	HP:0000648	Optic atrophy	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0000648	HP:0000648	Optic atrophy	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000648	HP:0000648	Optic atrophy	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000648	HP:0000648	Optic atrophy	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000648	HP:0000648	Optic atrophy	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0000648	HP:0000648	Optic atrophy	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000648	HP:0000648	Optic atrophy	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000648	HP:0000648	Optic atrophy	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0000648	HP:0000648	Optic atrophy	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent	10
HP:0000648	HP:0000648	Optic atrophy	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000648	HP:0000648	Optic atrophy	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0000648	HP:0000648	Optic atrophy	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0000648	HP:0000648	Optic atrophy	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0000648	HP:0000648	Optic atrophy	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000648	HP:0000648	Optic atrophy	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000648	HP:0000648	Optic atrophy	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0000648	HP:0000648	Optic atrophy	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0000648	HP:0000648	Optic atrophy	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0000648	HP:0000648	Optic atrophy	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0000648	HP:0000648	Optic atrophy	0	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency	.	18
HP:0000648	HP:0000648	Optic atrophy	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional	65
HP:0000648	HP:0000648	Optic atrophy	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0000648	HP:0000648	Optic atrophy	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0000648	HP:0000648	Optic atrophy	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0000648	HP:0000648	Optic atrophy	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0000648	HP:0000648	Optic atrophy	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000648	HP:0000648	Optic atrophy	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	70
HP:0000648	HP:0000648	Optic atrophy	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	357
HP:0000648	HP:0000648	Optic atrophy	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	40
HP:0000648	HP:0000648	Optic atrophy	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040284 - Very rare	5
HP:0000648	HP:0000648	Optic atrophy	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000648	HP:0000648	Optic atrophy	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0000648	HP:0000648	Optic atrophy	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0000648	HP:0000648	Optic atrophy	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA		304
HP:0000648	HP:0000648	Optic atrophy	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	HP:0040283 - Occasional	2
HP:0000648	HP:0000648	Optic atrophy	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0000648	HP:0000648	Optic atrophy	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000648	HP:0000648	Optic atrophy	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000648	HP:0000648	Optic atrophy	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000648	HP:0000648	Optic atrophy	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.	47
HP:0000648	HP:0000648	Optic atrophy	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional	177
HP:0000648	HP:0000648	Optic atrophy	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040284 - Very rare	493
HP:0000648	HP:0000648	Optic atrophy	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional	67
HP:0000648	HP:0000648	Optic atrophy	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0000648	HP:0000648	Optic atrophy	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	73
HP:0000648	HP:0000648	Optic atrophy	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0000648	HP:0000648	Optic atrophy	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040282 - Frequent	55
HP:0000648	HP:0000648	Optic atrophy	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0000648	HP:0000648	Optic atrophy	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000648	HP:0000648	Optic atrophy	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent	36
HP:0000648	HP:0000648	Optic atrophy	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0000648	HP:0000648	Optic atrophy	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0000648	HP:0000648	Optic atrophy	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0000648	HP:0000648	Optic atrophy	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	68
HP:0000648	HP:0000648	Optic atrophy	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0000648	HP:0000648	Optic atrophy	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.	5
HP:0000648	HP:0000648	Optic atrophy	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0000648	HP:0000648	Optic atrophy	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional	47
HP:0000648	HP:0000648	Optic atrophy	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000648	HP:0000648	Optic atrophy	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000648	HP:0000648	Optic atrophy	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0000648	HP:0000648	Optic atrophy	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040282 - Frequent	94
HP:0000648	HP:0000648	Optic atrophy	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0000648	HP:0000648	Optic atrophy	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.	2
HP:0000648	HP:0000648	Optic atrophy	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000648	HP:0000648	Optic atrophy	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.	12
HP:0000648	HP:0000648	Optic atrophy	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040283 - Occasional	26
HP:0000648	HP:0000648	Optic atrophy	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0000648	HP:0000648	Optic atrophy	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040283 - Occasional	26
HP:0000648	HP:0000648	Optic atrophy	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0000648	HP:0000648	Optic atrophy	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040282 - Frequent	11
HP:0000648	HP:0000648	Optic atrophy	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome		11
HP:0000648	HP:0000648	Optic atrophy	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000648	HP:0000648	Optic atrophy	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0000648	HP:0000648	Optic atrophy	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0000648	HP:0000648	Optic atrophy	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0000648	HP:0000648	Optic atrophy	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0000648	HP:0000648	Optic atrophy	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040281 - Very frequent	80
HP:0000648	HP:0000648	Optic atrophy	0	SSBP1 CL E G H	6742	11317	OMIM:165510	Optic atrophy with negative electroretinograms	.
HP:0000648	HP:0000648	Optic atrophy	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0000648	HP:0000648	Optic atrophy	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0000648	HP:0000648	Optic atrophy	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.	18
HP:0000648	HP:0000648	Optic atrophy	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent	18
HP:0000648	HP:0000648	Optic atrophy	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent	80
HP:0000648	HP:0000648	Optic atrophy	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional	73
HP:0000648	HP:0000648	Optic atrophy	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0000648	HP:0000648	Optic atrophy	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0000648	HP:0000648	Optic atrophy	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0000648	HP:0000648	Optic atrophy	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	9
HP:0000648	HP:0000648	Optic atrophy	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	123
HP:0000648	HP:0000648	Optic atrophy	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0000648	HP:0000648	Optic atrophy	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0000648	HP:0000648	Optic atrophy	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12
HP:0000648	HP:0000648	Optic atrophy	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000648	HP:0000648	Optic atrophy	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0000648	HP:0000648	Optic atrophy	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000648	HP:0000648	Optic atrophy	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0000648	HP:0000648	Optic atrophy	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000648	HP:0000648	Optic atrophy	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	HP:0040283 - Occasional	271
HP:0000648	HP:0000648	Optic atrophy	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040284 - Very rare	271
HP:0000648	HP:0000648	Optic atrophy	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000648	HP:0000648	Optic atrophy	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0000648	HP:0000648	Optic atrophy	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent	16
HP:0000648	HP:0000648	Optic atrophy	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0000648	HP:0000648	Optic atrophy	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional	52
HP:0000648	HP:0000648	Optic atrophy	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO		52
HP:0000648	HP:0000648	Optic atrophy	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000648	HP:0000648	Optic atrophy	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	82
HP:0000648	HP:0000648	Optic atrophy	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis		82
HP:0000648	HP:0000648	Optic atrophy	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0000648	HP:0000648	Optic atrophy	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000648	HP:0000648	Optic atrophy	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0000648	HP:0000648	Optic atrophy	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0000648	HP:0000648	Optic atrophy	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040281 - Very frequent	18
HP:0000648	HP:0000648	Optic atrophy	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.	18
HP:0000648	HP:0000648	Optic atrophy	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0000648	HP:0000648	Optic atrophy	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000648	HP:0000648	Optic atrophy	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional	1
HP:0000648	HP:0000648	Optic atrophy	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare	1
HP:0000648	HP:0000648	Optic atrophy	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0000648	HP:0000648	Optic atrophy	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional	103
HP:0000648	HP:0000648	Optic atrophy	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0000648	HP:0000648	Optic atrophy	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.	23
HP:0000648	HP:0000648	Optic atrophy	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000648	HP:0000648	Optic atrophy	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000648	HP:0000648	Optic atrophy	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0000648	HP:0000648	Optic atrophy	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0000648	HP:0000648	Optic atrophy	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000648	HP:0000648	Optic atrophy	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000648	HP:0000648	Optic atrophy	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0000648	HP:0000648	Optic atrophy	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0000648	HP:0000648	Optic atrophy	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	72
HP:0000648	HP:0000648	Optic atrophy	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040282 - Frequent	72
HP:0000648	HP:0000648	Optic atrophy	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0000648	HP:0000648	Optic atrophy	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040282 - Frequent	44
HP:0000648	HP:0000648	Optic atrophy	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0000648	HP:0000648	Optic atrophy	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0000648	HP:0000648	Optic atrophy	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0000648	HP:0000648	Optic atrophy	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0000648	HP:0000648	Optic atrophy	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0000648	HP:0000648	Optic atrophy	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional	2
HP:0000648	HP:0000648	Optic atrophy	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0000648	HP:0000648	Optic atrophy	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000648	HP:0000648	Optic atrophy	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0000648	HP:0000648	Optic atrophy	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040282 - Frequent
HP:0000648	HP:0000648	Optic atrophy	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0000648	HP:0000648	Optic atrophy	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0000648	HP:0000648	Optic atrophy	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0000648	HP:0000648	Optic atrophy	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0000648	HP:0000648	Optic atrophy	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000648	HP:0000648	Optic atrophy	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0000648	HP:0000648	Optic atrophy	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000648	HP:0000648	Optic atrophy	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0000648	HP:0000648	Optic atrophy	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0000648	HP:0000648	Optic atrophy	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0000648	HP:0000648	Optic atrophy	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional	18
HP:0000648	HP:0000648	Optic atrophy	0	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia	HP:0040281 - Very frequent	113
HP:0000648	HP:0000648	Optic atrophy	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0000648	HP:0000648	Optic atrophy	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29	.	1
HP:0000648	HP:0000648	Optic atrophy	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0000648	HP:0000648	Optic atrophy	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	13
HP:0000648	HP:0000648	Optic atrophy	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent	13
HP:0000648	HP:0000648	Optic atrophy	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0000648	HP:0000648	Optic atrophy	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000648	HP:0000648	Optic atrophy	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0000648	HP:0000648	Optic atrophy	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.	180
HP:0000648	HP:0000648	Optic atrophy	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0000648	HP:0000648	Optic atrophy	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0000648	HP:0000648	Optic atrophy	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional	546
HP:0000648	HP:0000648	Optic atrophy	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0000648	HP:0000648	Optic atrophy	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0000648	HP:0000648	Optic atrophy	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0000648	HP:0000648	Optic atrophy	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0000648	HP:0000648	Optic atrophy	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0000648	HP:0000648	Optic atrophy	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:0000648	HP:0000648	Optic atrophy	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0000648	HP:0000648	Optic atrophy	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0000648	HP:0000648	Optic atrophy	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040283 - Occasional	51
HP:0000648	HP:0000648	Optic atrophy	0	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent	14
HP:0000648	HP:0000648	Optic atrophy	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0000648	HP:0000648	Optic atrophy	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent	389
HP:0000648	HP:0000648	Optic atrophy	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389
HP:0000648	HP:0000648	Optic atrophy	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040281 - Very frequent	389
HP:0000648	HP:0000648	Optic atrophy	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	.	389
HP:0000648	HP:0000648	Optic atrophy	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0000648	HP:0000648	Optic atrophy	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	HP:0040283 - Occasional	149
HP:0000648	HP:0000648	Optic atrophy	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare	149
HP:0000648	HP:0000648	Optic atrophy	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	HP:0040283 - Occasional	149
HP:0000648	HP:0000648	Optic atrophy	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	34
HP:0000648	HP:0000648	Optic atrophy	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent	86
HP:0000648	HP:0000648	Optic atrophy	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040283 - Occasional	2
HP:0000648	HP:0000648	Optic atrophy	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.	2
HP:0000648	HP:0000648	Optic atrophy	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000648	HP:0000648	Optic atrophy	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0000648	HP:0000648	Optic atrophy	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000648	HP:0000648	Optic atrophy	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0000648	HP:0000648	Optic atrophy	0	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent	4
HP:0000648	HP:0000648	Optic atrophy	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0000648	HP:0000648	Optic atrophy	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0000648	HP:0000648	Optic atrophy	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000648	HP:0007958	Optic atrophy from cranial nerve compression	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	102
HP:0000648	HP:0007958	Optic atrophy from cranial nerve compression	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	2
HP:0000648	HP:0007958	Optic atrophy from cranial nerve compression	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	82

Genes (609) :AAAS AARS1 ABCA4 ABHD12 ACADS ACO2 ACOX1 ACTL6B ADA2 ADAM22 ADAR AFF4 AFG3L2 AGBL5 AGTPBP1 AGXT AHI1 AHR AKT3 ALG13 ALG3 ALG8 AMPD2 ANTXR1 AP3B2 ARHGEF18 ARL2BP ARL3 ARL6 ARSA ARV1 ARVCF ARX ASPA ASXL1 ATAD3A ATG7 ATIC ATP1A2 ATP1A3 ATP6 ATP6V1A ATP6V1B2 ATRX ATXN1 ATXN7 AUH B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BBS1 BBS2 BCAP31 BEST1 BOLA3 BRAF BRAT1 BTD C19ORF12 CA2 CA4 CACNA1A CACNA1B CACNA2D1 CASK CASR CASZ1 CBS CC2D2A CCDC22 CCDC88A CDC42 CDHR1 CDK19 CELF2 CEP290 CERKL CFAP410 CFAP418 CHD7 CHSY1 CISD2 CKAP2L CLCN3 CLCN7 CLN3 CLP1 CLRN1 CLTC CNGA1 CNGB1 CNKSR2 CNNM4 CNOT3 COA8 COG6 COL4A1 COMT COX1 COX15 COX2 COX3 CPLX1 CPSF3 CRB1 CRPPA CRX CSF1R CSPP1 CTBP1 CTC1 CTNNB1 CYFIP2 CYP27A1 CYP7B1 CYTB DAG1 DALRD3 DARS2 DDB2 DENND5A DGUOK DHCR7 DHDDS DHX38 DIAPH1 DKC1 DNAJC19 DNAJC30 DNM1 DNM1L DNMT1 DOCK6 DPAGT1 DPM1 DPM2 DPYD ECHS1 EEF1A2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELP1 ELP4 EMC1 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERF EXOSC3 EXOSC5 EXOSC8 EXOSC9 EYS FA2H FAM161A FCSK FDX2 FDXR FGF12 FGF13 FGFR2 FGFR3 FH FKRP FKTN FLRT1 FLVCR1 FOXRED1 FRMPD4 FSCN2 FXN FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALC GEMIN4 GJA1 GJC2 GLA GLB1 GLRX5 GMPPA GMPPB GNA11 GNAQ GP1BB GPAA1 GRIN2D GRN GTPBP2 GUCA1B HCN1 HGSNAT HIKESHI HIRA HK1 HLA-B HLA-DRB1 HSD17B10 HSPG2 HUWE1 IBA57 IDH3A IDH3B IDS IER3IP1 IFT140 IFT172 IFT88 IKBKG IMPDH1 IMPG1 IMPG2 INPP5K INTS8 ISCA2 JMJD1C KANSL1 KAT6A KCNA2 KCNAB2 KCNB1 KCNC3 KCTD7 KIAA1549 KIF11 KIF1A KIF7 KIZ KLC2 KLHL7 KNSTRN KRAS L2HGDH LAMB1 LARGE1 LETM1 LIPT1 LRAT LRP4 LRP5 LUZP1 MAG MAK MAP2K1 MAP2K2 MCOLN1 MECR MERTK MFF MFN2 MFSD8 MGP MICOS13 MICU1 MID2 MINPP1 MKS1 MMACHC MMP23B MMUT MOGS MPDU1 MPDZ MPLKIP MRPS34 MTFMT MTHFR MTO1 MTOR MTPAP MTRFR MTSS2 MYO5A NAGA NALCN NARS2 NBAS ND1 ND2 ND3 ND4 ND4L ND5 ND6 NDP NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB8 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEDD4L NEK2 NELFA NEU1 NFIX NGLY1 NIPBL NLRP3 NMNAT1 NOTCH2NLC NR2E3 NR2F1 NRCAM NRL NSD2 NT5C2 NTRK2 NUP62 NUS1 OFD1 OGDHL OPA1 OPA3 OSTM1 P4HA2 P4HTM PANK2 PARS2 PAX6 PCARE PCK1 PCLO PCYT2 PDE6A PDE6B PDE6G PDHA1 PDHX PDPN PDSS1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PI4KA PIEZO2 PIGG PIGU PIK3CA PIK3CD PLA2G6 PLAA PLEKHM1 PLK4 PLP1 PNPLA6 POGZ POLG POLG2 POLR3A POLR3B POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN POU3F4 PPP1R21 PPP3CA PPT1 PRCD PRDM16 PRICKLE3 PRKAR1A PRKCZ PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRUNE1 PSAP PTCD3 PTPN22 RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RBL2 RBM10 RBP3 RDH12 RECQL4 REEP6 RERE RFC1 RGR RHO RHOA RLBP1 RNF170 RNF216 RNR1 RNU7-1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPIA RPS6KA3 RREB1 RRM2B RSPO2 RXYLT1 SAG SARDH SBF2 SCAPER SCN3A SCN8A SCO2 SCYL1 SCYL2 SDHA SEC23A SEC24C SEC31A SELENOI SEMA3E SEMA4A SERAC1 SH3BP2 SH3TC2 SIL1 SKI SLC13A5 SLC19A2 SLC19A3 SLC1A2 SLC25A19 SLC25A46 SLC29A3 SLC30A9 SLC38A3 SLC39A14 SLC44A1 SLC52A2 SLC6A9 SLC7A14 SMOC1 SNAP29 SNRNP200 SNX10 SON SOST SOX5 SPATA7 SPEN SPG7 SRD5A3 SSBP1 ST3GAL5 STAMBP STT3B SUMF1 SURF1 SYNGAP1 SYNJ1 SZT2 TACO1 TANGO2 TBC1D20 TBC1D24 TBC1D2B TBC1D7 TBCD TBCE TBX1 TCIRG1 TCTN1 TCTN2 TCTN3 TFG TGFB1 THG1L TIMM50 TIMM8A TK2 TMEM107 TMEM126A TMEM216 TMEM222 TMEM231 TMEM237 TMEM53 TMEM63A TMEM67 TMTC3 TNFRSF11A TNFRSF11B TNFSF11 TOE1 TOPORS TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRNF TRNH TRNK TRNL1 TRNN TRNP TRNQ TRNS1 TRNS2 TRNV TRNW TSC1 TSC2 TSFM TTC8 TUB TUBB4A TUBGCP2 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWNK TXN2 TXNDC15 UBA5 UBE3B UBE4B UCHL1 UFD1 USH2A VCAN VPS11 VPS13B VPS33A VPS53 VRK1 WARS2 WASHC5 WDR4 WDR45 WDR73 WFS1 WNT3 WWOX XPA XPC YAP1 YME1L1 YWHAG ZEB2 ZNF408 ZNF513 ZNF592 ZNHIT3 ZPR1

Diseases (491) :OMIM:231550 ORPHA:869 ORPHA:442835 ORPHA:791 OMIM:612674 ORPHA:26792 OMIM:614559 OMIM:616289 ORPHA:2971 OMIM:264470 OMIM:615688 OMIM:617933 ORPHA:225154 OMIM:616368 OMIM:618977 ORPHA:2254 OMIM:259900 ORPHA:99802 OMIM:300884 OMIM:601110 ORPHA:79325 OMIM:615809 ORPHA:2067 OMIM:230740 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:567 OMIM:300004 OMIM:271900 ORPHA:314911 ORPHA:97297 OMIM:617183 ORPHA:496790 OMIM:619422 OMIM:608688 OMIM:601338 ORPHA:1171 ORPHA:104 OMIM:535000 ORPHA:255210 OMIM:618012 ORPHA:79500 ORPHA:847 OMIM:309580 OMIM:164400 ORPHA:98755 OMIM:164500 OMIM:250950 ORPHA:588 ORPHA:899 ORPHA:709 ORPHA:564 OMIM:300475 ORPHA:369939 OMIM:614299 ORPHA:1340 ORPHA:54595 OMIM:614498 ORPHA:79241 OMIM:253260 ORPHA:289560 OMIM:614298 OMIM:615043 ORPHA:2785 ORPHA:163937 ORPHA:428 ORPHA:1606 ORPHA:394 ORPHA:7 OMIM:617507 ORPHA:487796 OMIM:616737 OMIM:602271 ORPHA:138 OMIM:605282 ORPHA:363417 ORPHA:3463 OMIM:604928 ORPHA:3255 OMIM:272440 OMIM:619512 ORPHA:53 ORPHA:210110 OMIM:611490 OMIM:204200 ORPHA:228346 ORPHA:411493 ORPHA:1873 OMIM:618672 ORPHA:436271 OMIM:614576 ORPHA:550 ORPHA:255241 ORPHA:280 OMIM:619876 OMIM:618476 OMIM:612199 OMIM:615075 ORPHA:909 OMIM:270800 ORPHA:137675 ORPHA:137898 ORPHA:910 OMIM:617281 ORPHA:329314 ORPHA:818 OMIM:616632 OMIM:305000 OMIM:610198 ORPHA:66634 ORPHA:98673 ORPHA:330050 OMIM:614388 OMIM:610708 ORPHA:314404 OMIM:604121 OMIM:614219 ORPHA:86309 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 OMIM:274270 OMIM:603896 ORPHA:1764 OMIM:617141 OMIM:616875 ORPHA:480898 ORPHA:1493 OMIM:617951 ORPHA:1466 ORPHA:220295 OMIM:610651 ORPHA:90321 OMIM:610965 OMIM:133540 OMIM:278800 OMIM:216400 ORPHA:207 OMIM:619576 ORPHA:171629 ORPHA:329308 OMIM:612319 OMIM:618324 OMIM:251900 OMIM:617717 ORPHA:543470 ORPHA:87 OMIM:123790 OMIM:123500 ORPHA:1555 ORPHA:794 ORPHA:93262 OMIM:606812 ORPHA:370959 OMIM:236670 ORPHA:272 OMIM:253800 ORPHA:320406 OMIM:609033 OMIM:618241 OMIM:300983 OMIM:607921 ORPHA:95 OMIM:229300 ORPHA:206436 OMIM:245200 OMIM:617913 OMIM:218400 ORPHA:2710 OMIM:608804 ORPHA:324 OMIM:230600 ORPHA:401866 OMIM:616859 ORPHA:3205 OMIM:617810 ORPHA:529665 OMIM:614706 OMIM:617988 OMIM:616881 OMIM:618547 ORPHA:397 ORPHA:391428 OMIM:300438 OMIM:309590 ORPHA:468661 OMIM:615330 OMIM:616451 ORPHA:217093 ORPHA:217085 OMIM:614231 OMIM:308300 ORPHA:559 OMIM:618572 OMIM:616370 ORPHA:363958 ORPHA:363965 OMIM:616268 ORPHA:457193 OMIM:605259 ORPHA:98768 OMIM:611726 ORPHA:263516 OMIM:152950 ORPHA:2526 OMIM:614255 ORPHA:2836 OMIM:200990 OMIM:609541 OMIM:613328 OMIM:236792 ORPHA:352682 OMIM:615191 OMIM:613154 OMIM:620089 ORPHA:3152 ORPHA:178377 OMIM:616680 OMIM:252650 OMIM:617282 ORPHA:508093 OMIM:617086 ORPHA:485421 ORPHA:99947 OMIM:617087 OMIM:609260 OMIM:601152 OMIM:610951 ORPHA:85202 OMIM:618329 OMIM:615673 ORPHA:401768 OMIM:300928 ORPHA:284339 OMIM:619527 ORPHA:79282 ORPHA:79312 ORPHA:289916 OMIM:606056 ORPHA:79330 OMIM:609180 ORPHA:79323 OMIM:615219 OMIM:234050 OMIM:617664 OMIM:614947 OMIM:618248 ORPHA:395 OMIM:614702 ORPHA:254343 OMIM:613672 ORPHA:320375 ORPHA:254930 OMIM:613559 OMIM:615035 OMIM:620086 ORPHA:33445 ORPHA:79279 OMIM:609241 OMIM:615419 OMIM:616239 OMIM:614800 ORPHA:551 OMIM:310600 ORPHA:649 OMIM:618236 OMIM:618249 OMIM:618253 OMIM:618233 ORPHA:70474 OMIM:618237 OMIM:618238 OMIM:618776 OMIM:618226 OMIM:618228 OMIM:618229 OMIM:617201 ORPHA:93400 ORPHA:93399 ORPHA:561 ORPHA:404454 OMIM:122470 ORPHA:575 OMIM:608553 ORPHA:2289 OMIM:615722 ORPHA:401777 OMIM:619833 ORPHA:320396 OMIM:613162 OMIM:617830 OMIM:271930 OMIM:619701 ORPHA:1215 OMIM:210000 OMIM:165500 OMIM:125250 OMIM:258501 ORPHA:67036 OMIM:165300 OMIM:259720 OMIM:618493 ORPHA:216873 OMIM:234200 OMIM:618437 ORPHA:2253 OMIM:261680 OMIM:608027 OMIM:618770 OMIM:245349 OMIM:614651 ORPHA:772 ORPHA:44 OMIM:601539 ORPHA:912 OMIM:614877 ORPHA:95433 OMIM:614863 OMIM:619708 ORPHA:1154 OMIM:618590 ORPHA:60040 ORPHA:35069 OMIM:256600 OMIM:610217 OMIM:617527 ORPHA:521426 ORPHA:2518 OMIM:616171 ORPHA:280234 OMIM:312080 OMIM:312920 ORPHA:99015 ORPHA:1173 ORPHA:468678 ORPHA:254886 OMIM:258450 OMIM:619425 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:614381 OMIM:619310 OMIM:253280 OMIM:613151 OMIM:305600 ORPHA:1435 OMIM:619383 OMIM:256730 OMIM:308905 OMIM:101800 OMIM:301835 OMIM:311070 ORPHA:1187 ORPHA:99014 OMIM:617481 ORPHA:544469 OMIM:611721 OMIM:619057 OMIM:617807 ORPHA:2510 OMIM:614222 OMIM:201000 OMIM:600118 OMIM:614225 OMIM:619690 OMIM:311900 ORPHA:2886 OMIM:218600 OMIM:616975 ORPHA:494344 ORPHA:504476 OMIM:618727 OMIM:619686 OMIM:619487 OMIM:608611 ORPHA:192 OMIM:268315 ORPHA:3301 ORPHA:3129 ORPHA:99956 ORPHA:466794 OMIM:618766 OMIM:252011 OMIM:619259 OMIM:607812 OMIM:618651 OMIM:618768 OMIM:614739 ORPHA:184 ORPHA:99949 OMIM:249270 ORPHA:49827 ORPHA:99742 OMIM:616505 OMIM:619303 ORPHA:1782 OMIM:617595 OMIM:144755 OMIM:618868 OMIM:614707 OMIM:617301 ORPHA:1106 ORPHA:66631 OMIM:615085 ORPHA:500150 OMIM:617140 ORPHA:1513 OMIM:122860 OMIM:269500 ORPHA:313892 OMIM:616803 OMIM:607259 ORPHA:99013 OMIM:612379 ORPHA:324737 OMIM:165510 OMIM:609056 OMIM:614261 OMIM:615597 ORPHA:370924 ORPHA:585 OMIM:220110 OMIM:619052 OMIM:616878 ORPHA:480864 OMIM:615663 OMIM:220500 OMIM:615338 ORPHA:352596 OMIM:619323 OMIM:248000 ORPHA:496641 OMIM:617193 ORPHA:496756 OMIM:617207 OMIM:259700 ORPHA:431329 OMIM:615658 ORPHA:1328 OMIM:618800 ORPHA:505216 OMIM:617698 ORPHA:52368 OMIM:612989 OMIM:619470 OMIM:619727 OMIM:618688 OMIM:617255 ORPHA:2801 OMIM:612301 OMIM:259710 OMIM:614969 OMIM:618164 ORPHA:500144 OMIM:617669 ORPHA:538 OMIM:610505 OMIM:612438 OMIM:618737 ORPHA:1186 OMIM:271245 OMIM:616811 ORPHA:2707 OMIM:615491 OMIM:143200 OMIM:616683 ORPHA:466934 ORPHA:193 OMIM:216550 ORPHA:505248 OMIM:617303 OMIM:615851 OMIM:617710 OMIM:618346 ORPHA:329284 ORPHA:83472 OMIM:251300 OMIM:222300 ORPHA:411590 OMIM:614296 OMIM:616211 OMIM:614322 ORPHA:1473 OMIM:617302 ORPHA:261552 OMIM:260565 OMIM:619321

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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