hypomyelinating leukodystrophy 11 Disease Ontology Browser

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Disease Ontology Browser

hypomyelinating leukodystrophy 11 (DOID:0060792)
Alliance: disease page
Synonyms: HLD11
Alt IDs: OMIM:616494, ICD10CM:G11.1
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

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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