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DOID:0112260 - Leydig cell hypoplasia type I
Disease Ontology Definition:A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3.
Synonyms: 46,XY DSD due to complete LH receptor inactivation, 46,XY DSD due to complete LH resistance, 46,XY DSD due to complete luteinizing hormone receptor inactivation, 46,XY DSD due to complete luteinizing hormone resistance, 46,XY disorder of sex development due to complete LH receptor inactivation, 46,XY disorder of sex development due to complete LH resistance, 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation, 46,XY disorder of sex development due to complete luteinizing hormone resistance, Leydig cell hypoplasia due to complete LH receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone resistance,
Echinobase 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)