hypomyelinating leukodystrophy 10

Summary

DOID:0060788 - hypomyelinating leukodystrophy 10

Disease Ontology 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.

Synonyms: HLD10,

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

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014632 - hypomyelinating leukodystrophy 10

MONDO:0014632 - hypomyelinating leukodystrophy 10

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

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

Parent(s): hypomyelinating leukodystrophy (is_a)