Charcot-Marie-tooth disease axonal type 2HH Disease Ontology Browser

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Disease Ontology Browser

Charcot-Marie-tooth disease axonal type 2HH (DOID:0070837)
Alliance: disease page
Synonyms: CMT2HH
Alt IDs: OMIM:619574, UMLS_CUI:C5562003
Definition: A Charcot-Marie-Tooth disease type 2 characterized by onset of vocal cord weakness resulting in stridor in infancy or early childhood that has_material_basis_in heterozygous mutation in the JAG1 gene on chromosome 20p12.

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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