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DO Term : Leydig cell hypoplasia type II [DOID:0112261] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • Leydig cell hypoplasia due to partial luteinizing hormone resistance,
  • Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation,
  • 46,XY DSD due to partial LH receptor inactivation,
  • 46,XY DSD due to partial luteinizing hormone resistance,
  • 46,XY disorder of sex development due to partial LH receptor inactivation,
  • Leydig cell hypoplasia due to partial LH resistance,
  • 46,XY disorder of sex development due to partial LH resistance,
  • 46,XY DSD 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,
  • ORDO:96266
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