OBO ID: DOID:0080293
Term Name: short-rib thoracic dysplasia 18 with polydactyly Search Ontology:
Synonyms:
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. https://pubmed.ncbi.nlm.nih.gov/28400947/
References:
Ontology: Human Disease   ( DOID:0080293 )
Relationships
is a type of:
OTHER short-rib thoracic dysplasia 18 with polydactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFT43 Short-rib thoracic dysplasia 18 with polydactyly 617866
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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