Leydig cell hypoplasia

Summary

DOID:0112259 - Leydig cell hypoplasia

Disease Ontology Definition:A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.

Synonyms: 46,XY DSD due to LH resistance or LHB deficiency, 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency, 46,XY disorder of sex development due to LH resistance or LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency,

Echinobase 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

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

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

Parent(s): autosomal recessive disease (is_a), pseudohermaphroditism (is_a)