Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

Leydig cell hypoplasia
Synonyms

46,XY disorder of sex development due to LH resistance or LHB deficiency

46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency

46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency

46,XY DSD due to LH resistance or LHB deficiency

Definitions

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

ID

http://purl.obolibrary.org/obo/DOID_0112259

database_cross_reference

MEDDRA:10024406

MESH:C562567

GARD:3244

ORDO:755

definition

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

has exact synonym

46,XY disorder of sex development due to LH resistance or LHB deficiency

46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency

46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency

46,XY DSD due to LH resistance or LHB deficiency

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0112259

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Leydig cell hypoplasia

notation

DOID:0112259

prefLabel

Leydig cell hypoplasia

subClassOf

http://purl.obolibrary.org/obo/DOID_3765

http://purl.obolibrary.org/obo/DOID_0050737

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