hypomyelinating leukodystrophy 12

Summary

DOID:0060796 - hypomyelinating leukodystrophy 12

Disease Ontology Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.

Synonyms: HLD12

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: vps11

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014732 - hypomyelinating leukodystrophy 12

MONDO:0014732 - hypomyelinating leukodystrophy 12

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hypomyelinating leukodystrophy (is_a)