Human Phenotype Ontology

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

Grandparent Node:
Abnormal myelination (HP:0012447)

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal CNS myelination (HP:0011400)

..Starting node
..CNS hypomyelination (HP:0003429)

Term ID:

3429

Name:

CNS hypomyelination

Synonym:

Definition:

Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.

Comments:

Reference:

HP:0003429

Genes and Diseases:

Child Nodes:

........

Cerebral hypomyelination (HP:0006808)

Sister Nodes:

Cerebral dysmyelination (HP:0007266)

CNS demyelination (HP:0007305)

CNS hypermyelination (HP:0012754)

Delayed CNS myelination (HP:0002188)

Leukodystrophy (HP:0002415)

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:0003429	HP:0003429	CNS hypomyelination	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0003429	HP:0003429	CNS hypomyelination	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0003429	HP:0003429	CNS hypomyelination	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0003429	HP:0003429	CNS hypomyelination	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0003429	HP:0003429	CNS hypomyelination	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG		46
HP:0003429	HP:0003429	CNS hypomyelination	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	114
HP:0003429	HP:0003429	CNS hypomyelination	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0003429	HP:0003429	CNS hypomyelination	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.	8
HP:0003429	HP:0003429	CNS hypomyelination	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional	8
HP:0003429	HP:0003429	CNS hypomyelination	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003429	HP:0003429	CNS hypomyelination	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0003429	HP:0003429	CNS hypomyelination	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0003429	HP:0003429	CNS hypomyelination	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0003429	HP:0003429	CNS hypomyelination	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia		2
HP:0003429	HP:0003429	CNS hypomyelination	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia		24
HP:0003429	HP:0003429	CNS hypomyelination	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0003429	HP:0003429	CNS hypomyelination	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0003429	HP:0003429	CNS hypomyelination	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent	62
HP:0003429	HP:0003429	CNS hypomyelination	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0003429	HP:0003429	CNS hypomyelination	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0003429	HP:0003429	CNS hypomyelination	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter		42
HP:0003429	HP:0003429	CNS hypomyelination	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter		24
HP:0003429	HP:0003429	CNS hypomyelination	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter		32
HP:0003429	HP:0003429	CNS hypomyelination	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter		38
HP:0003429	HP:0003429	CNS hypomyelination	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter		48
HP:0003429	HP:0003429	CNS hypomyelination	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0003429	HP:0003429	CNS hypomyelination	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0003429	HP:0003429	CNS hypomyelination	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0003429	HP:0003429	CNS hypomyelination	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0003429	HP:0003429	CNS hypomyelination	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0003429	HP:0003429	CNS hypomyelination	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0003429	HP:0003429	CNS hypomyelination	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0003429	HP:0003429	CNS hypomyelination	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent	121
HP:0003429	HP:0003429	CNS hypomyelination	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0003429	HP:0003429	CNS hypomyelination	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0003429	HP:0003429	CNS hypomyelination	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0003429	HP:0003429	CNS hypomyelination	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0003429	HP:0003429	CNS hypomyelination	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0003429	HP:0003429	CNS hypomyelination	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0003429	HP:0003429	CNS hypomyelination	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0003429	HP:0003429	CNS hypomyelination	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0003429	HP:0003429	CNS hypomyelination	0	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome
HP:0003429	HP:0003429	CNS hypomyelination	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0003429	HP:0003429	CNS hypomyelination	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0003429	HP:0003429	CNS hypomyelination	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0003429	HP:0003429	CNS hypomyelination	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0003429	HP:0003429	CNS hypomyelination	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0003429	HP:0003429	CNS hypomyelination	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0003429	HP:0003429	CNS hypomyelination	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	2
HP:0003429	HP:0003429	CNS hypomyelination	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0003429	HP:0003429	CNS hypomyelination	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0003429	HP:0003429	CNS hypomyelination	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0003429	HP:0003429	CNS hypomyelination	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)		66
HP:0003429	HP:0003429	CNS hypomyelination	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0003429	HP:0003429	CNS hypomyelination	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0003429	HP:0003429	CNS hypomyelination	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form		37
HP:0003429	HP:0003429	CNS hypomyelination	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0003429	HP:0003429	CNS hypomyelination	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0003429	HP:0003429	CNS hypomyelination	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0003429	HP:0003429	CNS hypomyelination	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0003429	HP:0003429	CNS hypomyelination	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0003429	HP:0003429	CNS hypomyelination	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0003429	HP:0003429	CNS hypomyelination	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040281 - Very frequent	60
HP:0003429	HP:0003429	CNS hypomyelination	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0003429	HP:0003429	CNS hypomyelination	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0003429	HP:0003429	CNS hypomyelination	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0003429	HP:0003429	CNS hypomyelination	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form		60
HP:0003429	HP:0003429	CNS hypomyelination	0	PLP1 CL E G H	5354	9086	ORPHA:280224	Pelizaeus-Merzbacher disease, transitional form	HP:0040281 - Very frequent	60
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR1C CL E G H	9533	20194	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	HP:0040281 - Very frequent	38
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	30074	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	HP:0040281 - Very frequent	138
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3B CL E G H	55703	30348	ORPHA:88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	HP:0040281 - Very frequent	67
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0003429	HP:0003429	CNS hypomyelination	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0003429	HP:0003429	CNS hypomyelination	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.	53
HP:0003429	HP:0003429	CNS hypomyelination	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0003429	HP:0003429	CNS hypomyelination	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0003429	HP:0003429	CNS hypomyelination	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0003429	HP:0003429	CNS hypomyelination	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0003429	HP:0003429	CNS hypomyelination	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.	26
HP:0003429	HP:0003429	CNS hypomyelination	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0003429	HP:0003429	CNS hypomyelination	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0003429	HP:0003429	CNS hypomyelination	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome		4
HP:0003429	HP:0003429	CNS hypomyelination	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0003429	HP:0003429	CNS hypomyelination	0	SLC33A1 CL E G H	9197	95	OMIM:614482	Congenital cataracts, hearing loss, and neurodegeneration	.	48
HP:0003429	HP:0003429	CNS hypomyelination	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0003429	HP:0003429	CNS hypomyelination	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0003429	HP:0003429	CNS hypomyelination	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0003429	HP:0003429	CNS hypomyelination	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional	19
HP:0003429	HP:0003429	CNS hypomyelination	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		19
HP:0003429	HP:0003429	CNS hypomyelination	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	287
HP:0003429	HP:0003429	CNS hypomyelination	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0003429	HP:0003429	CNS hypomyelination	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	54
HP:0003429	HP:0003429	CNS hypomyelination	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4		237
HP:0003429	HP:0003429	CNS hypomyelination	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0003429	HP:0003429	CNS hypomyelination	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0003429	HP:0003429	CNS hypomyelination	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0003429	HP:0003429	CNS hypomyelination	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0003429	HP:0003429	CNS hypomyelination	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional	27
HP:0003429	HP:0003429	CNS hypomyelination	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003429	HP:0003429	CNS hypomyelination	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6		66
HP:0003429	HP:0003429	CNS hypomyelination	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0003429	HP:0003429	CNS hypomyelination	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0003429	HP:0003429	CNS hypomyelination	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0003429	HP:0033846	Spinal hypomyelination	1	CL E G H
HP:0003429	HP:0006808	Cerebral hypomyelination	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0003429	HP:0006808	Cerebral hypomyelination	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional	46
HP:0003429	HP:0006808	Cerebral hypomyelination	1	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.	8
HP:0003429	HP:0006808	Cerebral hypomyelination	1	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent	8
HP:0003429	HP:0006808	Cerebral hypomyelination	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	2
HP:0003429	HP:0006808	Cerebral hypomyelination	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional	24
HP:0003429	HP:0006808	Cerebral hypomyelination	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0003429	HP:0006808	Cerebral hypomyelination	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0003429	HP:0006808	Cerebral hypomyelination	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0003429	HP:0006808	Cerebral hypomyelination	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0003429	HP:0006808	Cerebral hypomyelination	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0003429	HP:0006808	Cerebral hypomyelination	1	HYCC1 CL E G H	84668	24587	ORPHA:85163	Hypomyelination-congenital cataract syndrome	HP:0040281 - Very frequent
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent	37
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040281 - Very frequent	60
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040281 - Very frequent	60
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0003429	HP:0006808	Cerebral hypomyelination	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.	44
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent	19
HP:0003429	HP:0006808	Cerebral hypomyelination	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0003429	HP:0006808	Cerebral hypomyelination	1	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:0003429	HP:0006808	Cerebral hypomyelination	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0003429	HP:0006808	Cerebral hypomyelination	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.	66
HP:0003429	HP:0006808	Cerebral hypomyelination	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0003429	HP:0006808	Cerebral hypomyelination	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8

Genes (89) :AARS1 ACBD5 ADSL AHCY ALG2 ALS2 ATP6V1A BCAP31 C2ORF69 CHKA CLDN11 CNTNAP1 CYB5A CYB5R3 DALRD3 DARS1 DDOST DPAGT1 DYRK1A EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELOVL1 EPRS1 EXOC2 EXOSC5 FUS GABRA2 GABRA5 GAN GDAP1 GJC2 GLUL GRIK2 GRM7 HEXB HYCC1 INTU LEMD2 MED27 MTHFS NARS2 NKX6-2 NMNAT1 PARS2 PEX13 PGAP2 PGAP3 PHGDH PI4KA PIGL PIGO PIGV PIGW PIGY PLP1 POLR1C POLR3A POLR3B PRKDC PURA PYCR2 QARS1 RARS1 RMND1 RNF220 SIGMAR1 SLC1A4 SLC25A12 SLC33A1 SMPD4 SNIP1 SOX10 SPATA5 SPG11 SPTAN1 SPTLC1 STXBP1 TBCD TIAM1 TMTC3 TRAPPC11 TTC26 TUBB4A VPS11 WDR26 YIF1B

Diseases (90) :OMIM:616339 OMIM:618863 OMIM:103050 ORPHA:88618 ORPHA:79326 ORPHA:300605 OMIM:618012 OMIM:300475 ORPHA:369939 OMIM:619423 OMIM:620023 OMIM:619328 OMIM:618186 ORPHA:621 OMIM:618910 OMIM:615281 ORPHA:300536 ORPHA:86309 ORPHA:268261 OMIM:603896 OMIM:618527 OMIM:617951 OMIM:619306 OMIM:619576 OMIM:618557 OMIM:618559 ORPHA:643 OMIM:214400 ORPHA:320401 OMIM:608804 OMIM:610015 OMIM:619580 OMIM:618922 OMIM:268800 ORPHA:309155 ORPHA:85163 OMIM:610532 OMIM:617926 OMIM:619322 OMIM:619286 OMIM:618367 OMIM:616239 ORPHA:527497 OMIM:617560 OMIM:619260 OMIM:618437 OMIM:614883 ORPHA:247262 ORPHA:79351 OMIM:619708 ORPHA:280234 OMIM:312080 ORPHA:280229 ORPHA:280219 ORPHA:280210 ORPHA:280224 ORPHA:88637 OMIM:616494 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:614381 OMIM:615966 OMIM:616158 OMIM:616420 ORPHA:481152 OMIM:615760 ORPHA:438114 OMIM:614922 OMIM:619688 ORPHA:447997 OMIM:612949 OMIM:614482 OMIM:618622 OMIM:614501 OMIM:611584 OMIM:616577 ORPHA:457351 OMIM:613477 OMIM:612164 ORPHA:496641 OMIM:617193 OMIM:619908 OMIM:617255 OMIM:615356 OMIM:619534 OMIM:612438 OMIM:616683 ORPHA:513456 OMIM:619125

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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