hypomyelinating leukodystrophy 8 Disease Ontology Browser

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Disease Ontology Browser

hypomyelinating leukodystrophy 8 (DOID:0060797)
Alliance: disease page
Synonyms: HLD8
Alt IDs: OMIM:614381, ICD10CM:G11.1
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.

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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