OBO ID: DOID:0111158
Term Name: SADDAN Search Ontology:
Synonyms:
  • SADDAN dysplasia
  • severe achondroplasia with developmental delay and acanthosis nigricans
Definition: A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. (2)
References:
Ontology: Human Disease   ( DOID:0111158 )
Relationships
is a type of:
OTHER SADDAN PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR3 SADDAN 616482
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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