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Human Disease

short-rib thoracic dysplasia 19 with or without polydactyly

Term ID
DOID:0080295
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 )
Relationships
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Genes Involved
Zebrafish Models