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asphyxiating thoracic dystrophy 4
Summary
- Synonym
-
- ATD4
- SRTD4
- short-rib thoracic dysplasia 4 with or without polydactyly
- Definition
- An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
- Super Class
- asphyxiating thoracic dystrophy autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110088
- Mondo Disease Ontology
- OMIM
