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Metadata
ID	DOID:0070679
PURL	http://purl.obolibrary.org/obo/DOID_0070679 Copy Copied!
Name	congenital hypomyelinating neuropathy 2
Definition	A congenital hypomyelinating neuropathy that has_material_basis_in heterozygous mutation in the MPZ gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/17825553/, https://pubmed.ncbi.nlm.nih.gov/8816708/
Xrefs	MIM:618184 UMLS_CUI:C4722277
SKOS	exactMatch UMLS_CUI:C4722277 exactMatch MIM:618184
Subsets	DO_rare_slim
Synonyms	CHN2 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a congenital hypomyelinating neuropathy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance