Search Ontology:
Human Disease

SADDAN

Term ID
DOID:0111158
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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