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MIRAGE
Leydig cell hypoplasia
Summary
- Synonym
-
- 46,XY DSD due to LH resistance or LHB deficiency
- 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
- 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
- Definition
- A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
- Super Class
- autosomal recessive disease pseudohermaphroditism
External Links
- Disease Ontology
- DOID:0112259
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22888 | Lutropin-choriogonadotropic hormone receptor |
