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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Id | http://purl.obolibrary.org/obo/DOID_0112259
http://purl.obolibrary.org/obo/DOID_0112259
|
|---|---|
| Preferred Name | Leydig cell hypoplasia |
| Definitions |
A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
|
| 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
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. |
|---|---|
| alternative label |
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
|
| preferred label |
Leydig cell hypoplasia
|
| label |
Leydig cell hypoplasia
|
| prefLabel |
Leydig cell hypoplasia
|
| database_cross_reference |
MEDDRA:10024406
MESH:C562567
GARD:3244
ORDO:755
|
| notation |
DOID:0112259
|
| in_subset | |
| id |
DOID:0112259
|
| note |
A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
|
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type | |
| 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
|
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