chondrodysplasia-pseudohermaphroditism syndrome (DOID:0060644)
Alliance: disease page
Synonyms: chondrodysplasia-disorder of sex development syndrome; Nivelon-Nivelon-Mabille syndrome
Alt IDs: OMIM:600092, MESH:C536123, ORDO:1422, UMLS_CUI:C1838654
Definition: A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.