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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

MESH:C536123

OMIM:600092

ORDO:1422

UMLS_CUI:C1838654

Synonyms

chondrodysplasia-disorder of sex development syndrome [EXACT]

Nivelon-Nivelon-Mabille syndrome [EXACT]

Parent Relationships

is_a syndrome

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