Search Ontology:
Human Disease
chondrodysplasia-pseudohermaphroditism syndrome
- Term ID
- DOID:0060644
- Synonyms
-
- chondrodysplasia-disorder of sex development syndrome
- Nivelon-Nivelon-Mabille 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
- References
-
- MESH:C536123
- MIM:600092
- ORDO:1422
- SNOMEDCT_US_2023_03_01:720851007
- UMLS_CUI:C1838654
- Ontology
- Human Disease ( DOID:0060644 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models