| Metadata | |
|---|---|
| ID | DOID:0060644 |
| Name | chondrodysplasia-pseudohermaphroditism syndrome |
| Definition | A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. https://www.ncbi.nlm.nih.gov/pubmed/1342874 |
| Xrefs |
SNOMEDCT_US_2023_03_01:720851007 |
| Subsets |
DO_rare_slim |
| Synonyms |
chondrodysplasia-disorder of sex development syndrome [EXACT] Nivelon-Nivelon-Mabille syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |