hypomyelinating leukodystrophy 17 Disease Ontology Browser

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hypomyelinating leukodystrophy 17 (DOID:0070404)
Alliance: disease page
Synonyms: HLD17
Alt IDs: OMIM:618006
Definition: A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22.

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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