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
..Severe demyelination of the white matter (HP:0007258)

Term ID:

7258

Name:

Severe demyelination of the white matter

Synonym:

Definition:

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

Comments:

Reference:

HP:0007258

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Patchy demyelination of subcortical white matter (HP:0002545)

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:0007258	HP:0007258	Severe demyelination of the white matter	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0007258	HP:0007258	Severe demyelination of the white matter	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0007258	HP:0007258	Severe demyelination of the white matter	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0007258	HP:0007258	Severe demyelination of the white matter	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0007258	HP:0007258	Severe demyelination of the white matter	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0007258	HP:0007258	Severe demyelination of the white matter	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0007258	HP:0007258	Severe demyelination of the white matter	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7

Genes (7) :L2HGDH MMACHC PIGG PPP1R15B PRPS1 PYCR2 TRMT10A

Diseases (6) :OMIM:236792 ORPHA:79282 ORPHA:488635 ORPHA:391408 ORPHA:1187 ORPHA:481152

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