| Metadata | |
|---|---|
| ID | DOID:0112259 |
| Name | Leydig cell hypoplasia |
| Definition | A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. https://pubmed.ncbi.nlm.nih.gov/7719343/, https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
46,XY disorder of sex development due to LH resistance or LHB deficiency [EXACT] 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency [EXACT] 46,XY DSD due to LH resistance or LHB deficiency [EXACT] 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |