Version: 8.1.0
Date: Fri Apr 18 2025
short-rib thoracic dysplasia 18 with polydactyly
DOID:0080293
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

short-rib thoracic dysplasia 18 with polydactyly

Definition
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
Synonyms
None
Cross References
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None
Sources of Associations

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