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
..Patchy demyelination of subcortical white matter (HP:0002545)

Term ID:

2545

Name:

Patchy demyelination of subcortical white matter

Synonym:

Definition:

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

Comments:

Reference:

HP:0002545

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0002545	HP:0002545	Patchy demyelination of subcortical white matter	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	20
HP:0002545	HP:0002545	Patchy demyelination of subcortical white matter	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	199
HP:0002545	HP:0002545	Patchy demyelination of subcortical white matter	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0002545	HP:0002545	Patchy demyelination of subcortical white matter	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0002545	HP:0002545	Patchy demyelination of subcortical white matter	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	55

Genes (3) :ERCC1 ERCC6 ERCC8

Diseases (3) :ORPHA:90322 OMIM:133540 OMIM:216400

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