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 CNS myelination (HP:0011400)

Parent Node:
CNS demyelination (HP:0007305)

..Starting node
..Diffuse demyelination of the cerebral white matter (HP:0007162)

Term ID:

7162

Name:

Diffuse demyelination of the cerebral white matter

Synonym:

Definition:

A diffuse loss of myelin from nerve fibers in the central nervous system.

Comments:

Reference:

HP:0007162

Genes and Diseases:

Child Nodes:

Sister Nodes:

Patchy demyelination of subcortical white matter (HP:0002545)

Severe demyelination of the white matter (HP:0007258)

Spinal cord posterior columns myelin loss (HP:0008311)

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:0007162	HP:0007162	Diffuse demyelination of the cerebral white matter	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent	135
HP:0007162	HP:0007162	Diffuse demyelination of the cerebral white matter	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0007162	HP:0007162	Diffuse demyelination of the cerebral white matter	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.	188
HP:0007162	HP:0007162	Diffuse demyelination of the cerebral white matter	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34

Genes (4) :ABCD1 ADAT3 GFAP HTRA1

Diseases (4) :ORPHA:139396 ORPHA:363528 OMIM:203450 OMIM:600142

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