Search Ontology:
Human Disease

short-rib thoracic dysplasia 9 with or without polydactyly

Term ID
DOID:0110097
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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