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short-rib thoracic dysplasia 7 with or without polydactyly
Summary
- Synonym
-
- SRPS5
- SRTD7
- short rib-polydactyly syndrome type V
- Definition
- An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
- Super Class
- asphyxiating thoracic dystrophy autosomal recessive disease digenic disease
External Links
- Disease Ontology
- DOID:0110090
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
