hypomyelinating leukodystrophy 10 Disease Ontology Browser

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hypomyelinating leukodystrophy 10 (DOID:0060788)
Alliance: disease page
Synonyms: HLD10
Alt IDs: OMIM:616420
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.

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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