hypomyelinating leukodystrophy 11

Summary

DOID:0060792 - hypomyelinating leukodystrophy 11

Disease Ontology 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.

Synonyms: HLD11

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

: polr1c

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014666 - hypomyelinating leukodystrophy 11

MONDO:0014666 - hypomyelinating leukodystrophy 11

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)