Visualize Submit Comment

Metadata
ID	DOID:0070683
PURL	http://purl.obolibrary.org/obo/DOID_0070683 Copy Copied!
Name	congenital hydrocephalus 2
Definition	A congenital hydrocephalus that has_material_basis_in homozygous mutation in the MPDZ gene on chromosome 9p23. https://pubmed.ncbi.nlm.nih.gov/28556411/
Xrefs	MIM:615219
SKOS	exactMatch MIM:615219 broadMatch UMLS_CUI:C5679774 broadMatch ORDO:269505
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