Visualize Submit Comment
Metadata
ID DOID:0070684
PURL http://purl.obolibrary.org/obo/DOID_0070684 Copy
Name congenital hydrocephalus 3
Definition A congenital hydrocephalus that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.
https://pubmed.ncbi.nlm.nih.gov/28556411/
Xrefs

MIM:617967

UMLS_CUI:C4747885

SKOS

exactMatch MIM:617967

exactMatch UMLS_CUI:C4747885

Subsets

DO_rare_slim

Parent Relationships

is_a congenital hydrocephalus

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker