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Metadata
ID DOID:0070685
PURL http://purl.obolibrary.org/obo/DOID_0070685 Copy
Name congenital hydrocephalus 4
Definition A congenital hydrocephalus that has_material_basis_in heterozygous mutation in the TRIM71 gene on chromosome 3p22.
https://pmc.ncbi.nlm.nih.gov/articles/PMC11629693/, https://pmc.ncbi.nlm.nih.gov/articles/PMC7839075/
Xrefs

MIM:618667

UMLS_CUI:C5231454

SKOS

exactMatch MIM:618667

exactMatch UMLS_CUI:C5231454

Subsets

DO_rare_slim

Parent Relationships

is_a autosomal dominant disease

is_a congenital hydrocephalus

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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