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DOID:0112261 - Leydig cell hypoplasia type II
Disease Ontology Definition:A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3.
Synonyms: 46,XY DSD due to partial LH receptor inactivation, 46,XY DSD due to partial LH resistance, 46,XY DSD due to partial luteinizing hormone resistance, 46,XY disorder of sex developement due to partial LH receptor inactivation, 46,XY disorder of sex developement due to partial LH resistance, 46,XY disorder of sex developement due to partial luteinizing hormone resistance, 46,XY disorder of sex development due to partial LH receptor inactivation, 46,XY disorder of sex development due to partial LH resistance, 46,XY disorder of sex development due to partial luteinizing hormone resistance, Leydig cell hypoplasia due to partial LH receptor inactivation, Leydig cell hypoplasia due to partial LH resistance, Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to partial luteinizing hormone resistance,
Xenbase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Leydig cell hypoplasia (is_a)