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:
Abnormal myelination (HP:0012447)

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

Parent Node:
Abnormal CNS myelination (HP:0011400)

..Starting node
..Cerebral dysmyelination (HP:0007266)

Term ID:

7266

Name:

Cerebral dysmyelination

Synonym:

Areas of dysmyelination on MRI; Dysmyelination of the brain; White matter dysmyelination/demyelination

Definition:

Defective structure and function of myelin sheaths of the white matter of the brain.

Comments:

Reference:

HP:0007266

Genes and Diseases:

Child Nodes:

Sister Nodes:

CNS demyelination (HP:0007305)

CNS hypermyelination (HP:0012754)

CNS hypomyelination (HP:0003429)

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:0007266	HP:0007266	Cerebral dysmyelination	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0007266	HP:0007266	Cerebral dysmyelination	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent	88
HP:0007266	HP:0007266	Cerebral dysmyelination	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.	88
HP:0007266	HP:0007266	Cerebral dysmyelination	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0007266	HP:0007266	Cerebral dysmyelination	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0007266	HP:0007266	Cerebral dysmyelination	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0007266	HP:0007266	Cerebral dysmyelination	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0007266	HP:0007266	Cerebral dysmyelination	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0007266	HP:0007266	Cerebral dysmyelination	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007266	HP:0007266	Cerebral dysmyelination	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0007266	HP:0007266	Cerebral dysmyelination	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0007266	HP:0007266	Cerebral dysmyelination	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0007266	HP:0007266	Cerebral dysmyelination	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.	37
HP:0007266	HP:0007266	Cerebral dysmyelination	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.	60
HP:0007266	HP:0007266	Cerebral dysmyelination	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0007266	HP:0007266	Cerebral dysmyelination	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent	948
HP:0007266	HP:0007266	Cerebral dysmyelination	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0007266	HP:0007266	Cerebral dysmyelination	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0007266	HP:0007266	Cerebral dysmyelination	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional

Genes (18) :ABCD1 ADGRG1 CARS1 CTSK ERCC2 ERCC3 GTF2E2 GTF2H5 HSD17B4 MCOLN1 MPLKIP PHGDH PLP1 PSAP PTEN RNF113A SOX10 TARS1

Diseases (11) :ORPHA:139399 ORPHA:101070 OMIM:606854 ORPHA:33364 ORPHA:763 OMIM:261515 OMIM:252650 OMIM:601815 OMIM:312080 OMIM:611722 OMIM:609136

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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