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
• OMIM:600092
• ORDO:1422
• SNOMEDCT_US_2023_03_01:720851007
• UMLS_CUI:C1838654

Ontology

Human Disease   ( DOID:0060644 )