OBO ID: DOID:0060644
Term Name: chondrodysplasia-pseudohermaphroditism syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060644 )
Relationships
is a type of:
OTHER chondrodysplasia-pseudohermaphroditism syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HHAT Nivelon-Nivelon-Mabille syndrome 600092
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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