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DO Term : Leydig cell hypoplasia [DOID:0112259] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
MEDDRA:10024406,
46,XY disorder of sex development due to LH resistance or LHB deficiency,
GARD:3244,
ORDO:755,
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency,
46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency,
46,XY DSD due to LH resistance or LHB deficiency,
MESH:C562567

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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