Search Ontology:
Human Disease

short-rib thoracic dysplasia 18 with polydactyly

Term ID
DOID:0080293
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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