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DOID:0060644 - chondrodysplasia-pseudohermaphroditism syndrome
Disease Ontology Definition:A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
Synonyms: chondrodysplasia-disorder of sex development syndrome, Nivelon-Nivelon-Mabille syndrome
Xenbase Genes
:
hhat
| MONDO:0010814 - chondrodysplasia-pseudohermaphroditism syndrome |
| MIM:600092 - NIVELON-NIVELON-MABILLE SYNDROME; NNMS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
syndrome (is_a)