leukodystrophy and cerebellar atrophy Disease Ontology Browser

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Disease Ontology Browser

leukodystrophy and cerebellar atrophy (DOID:0070800)
Alliance: disease page
Synonyms: LDCA
Alt IDs: OMIM:621191, UMLS_CUI:C6012719
Definition: A leukodystrophy characterized by neurodevelopmental defects, leukodystrophy, and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the LSM7 gene on chromosome 19p13.

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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