OBO ID: DOID:0080295
Term Name: short-rib thoracic dysplasia 19 with or without polydactyly Search Ontology:
Synonyms:
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/27666822/
References:
Ontology: Human Disease   ( DOID:0080295 )
OTHER short-rib thoracic dysplasia 19 with or without polydactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFT81 Short-rib thoracic dysplasia 19 with or without polydactyly 617895
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None