hypomyelinating leukodystrophy 16 Disease Ontology Browser

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hypomyelinating leukodystrophy 16 (DOID:0070405)
Alliance: disease page
Synonyms: HLD16
Alt IDs: OMIM:617964
Definition: A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21.

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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