hypomyelinating leukodystrophy 5 Disease Ontology Browser

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hypomyelinating leukodystrophy 5 (DOID:0060793)
Alliance: disease page
Synonyms: HLD5; hypomyelination-congenital cataract syndrome
Alt IDs: OMIM:610532, ICD10CM:G37.8, ORDO:85163
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.

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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