Leydig cell hypoplasia
Information
- Disease name
- Leydig cell hypoplasia
- Disease ID
- DOID:0112259
- Description
- "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3." [url:https\://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/7719343/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3765
- Cross Reference ID (Disease Ontology)
- GARD:3244
- Cross Reference ID (Disease Ontology)
- MEDDRA:10024406
- Cross Reference ID (Disease Ontology)
- MESH:C562567
- Cross Reference ID (Disease Ontology)
- ORDO:755
- Exact Synonym (Disease Ontology)
- 46,XY disorder of sex development due to LH resistance or LHB deficiency
- Exact Synonym (Disease Ontology)
- 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
- Exact Synonym (Disease Ontology)
- 46,XY DSD due to LH resistance or LHB deficiency
- Exact Synonym (Disease Ontology)
- 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency