congenital hypomyelinating neuropathy 2 Disease Ontology Browser

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Disease Ontology Browser

congenital hypomyelinating neuropathy 2 (DOID:0070679)
Alliance: disease page
Synonyms: CHN2
Alt IDs: OMIM:618184, UMLS_CUI:C4722277
Definition: A congenital hypomyelinating neuropathy that has_material_basis_in heterozygous mutation in the MPZ gene on chromosome 1q23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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