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Metadata
ID	DOID:0070687
PURL	http://purl.obolibrary.org/obo/DOID_0070687 Copy Copied!
Name	normal pressure hydrocephalus 1
Definition	A normal pressure hydrocephalus that has_material_basis_in heterozygous mutation in the CFAP43 gene on chromosome 10q25. https://pubmed.ncbi.nlm.nih.gov/21704338/, https://pubmed.ncbi.nlm.nih.gov/31004071/
Xrefs	MIM:236690 UMLS_CUI:C5231392
SKOS	exactMatch MIM:236690 exactMatch UMLS_CUI:C5231392
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal dominant disease is_a normal pressure hydrocephalus
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance