Search Ontology:
Human Disease
short-rib thoracic dysplasia 18 with polydactyly
- Term ID
- DOID:0080293
- Synonyms
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- 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 )
- is a type of
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