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 hypermyelination (HP:0012754)

Term ID:

12754

Name:

CNS hypermyelination

Synonym:

Definition:

Increased amount of myelin in the central nervous system.

Comments:

Reference:

HP:0012754

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral dysmyelination (HP:0007266)

CNS demyelination (HP:0007305)

CNS hypomyelination (HP:0003429)

Delayed CNS myelination (HP:0002188)

Leukodystrophy (HP:0002415)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012754	HP:0012754	CNS hypermyelination	0	CL E G H

Genes (0) :

Diseases (0) :

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