OBO ID: DOID:0110097
Term Name: short-rib thoracic dysplasia 9 with or without polydactyly Search Ontology:
Synonyms:
  • renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
  • SRTD9
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/22503633
References:
Ontology: Human Disease   ( DOID:0110097 )
Relationships
is a type of:
OTHER short-rib thoracic dysplasia 9 with or without polydactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFT140 Short-rib thoracic dysplasia 9 with or without polydactyly 266920
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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