short-rib thoracic dysplasia 19 with or without polydactyly
Disease
short-rib thoracic dysplasia 19 with or without polydactyly
- Definition
An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24.
- Synonyms
- None
- Cross References
- Parent Terms
- Child Terms
- None
- Sources of Associations
Associated Genes
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