| Metadata | |
|---|---|
| ID | DOID:0112261 |
| Name | Leydig cell hypoplasia type II |
| Definition | A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. https://pubmed.ncbi.nlm.nih.gov/11041448/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
46,XY disorder of sex development due to partial LH receptor inactivation [EXACT] 46,XY disorder of sex development due to partial LH resistance [EXACT] 46,XY disorder of sex development due to partial luteinizing hormone resistance [EXACT] 46,XY DSD due to partial LH receptor inactivation [EXACT] 46,XY DSD due to partial LH resistance [EXACT] 46,XY DSD due to partial luteinizing hormone resistance [EXACT] Leydig cell hypoplasia due to partial LH receptor inactivation [EXACT] Leydig cell hypoplasia due to partial LH resistance [EXACT] Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation [EXACT] Leydig cell hypoplasia due to partial luteinizing hormone resistance [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |