chondrodysplasia-pseudohermaphroditism syndrome

Summary
Synonym
  • Nivelon-Nivelon-Mabille syndrome
  • chondrodysplasia-disorder of sex development syndrome
Definition
A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
Super Class
syndrome
Disease Ontology
DOID:0060644
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024