FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Leydig cell hypoplasia type II ID (Ontology) DOID:0112261 (Human Disease)
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.
Also Known As "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" (for all, see Synonyms field below)
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autosomal recessive disease__
pseudohermaphroditism________|
                             Leydig cell hypoplasia
                              |__Leydig cell hypoplasia type II
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Synonyms
  • "46,XY disorder of sex development due to partial LH receptor inactivation" EXACT
    "46,XY disorder of sex development due to partial LH resistance" EXACT
    "46,XY disorder of sex development due to partial luteinizing hormone resistance" EXACT
    "46,XY DSD due to partial LH receptor inactivation" EXACT
    "46,XY DSD due to partial LH resistance" EXACT
    "46,XY DSD due to partial luteinizing hormone resistance" EXACT
    "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT
    "Leydig cell hypoplasia due to partial LH resistance" EXACT
    "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT
    "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT
Secondary IDs
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ORDO:96266