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 cerebral white matter morphology (HP:0002500)

Parent Node:
Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)

..Starting node
..Cerebral white matter agenesis (HP:0200017)

Term ID:

200017

Name:

Cerebral white matter agenesis

Synonym:

Agenesis of the cerebral white matter; White matter agenesis

Definition:

Congenital defect with failure of the development of the cerebral white matter.

Comments:

Reference:

HP:0200017

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral white matter hypoplasia (HP:0012430)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200017	HP:0200017	Cerebral white matter agenesis	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.