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asphyxiating thoracic dystrophy 3
Summary
- Synonym
-
- ATD3
- SRPS1
- SRPS2B
- SRPS3
- SRTD3
- Saldino-Noonan syndrome
- Verma-Naumoff syndrome
- polydactyly with neonatal chondrodystrophy, type I
- polydactyly with neonatal chondrodystrophy, type III
- short rib-polydactyly syndrome, type I
- short rib-polydactyly syndrome, type IIB
- short-rib thoracic dysplasia 3 with or without polydactyly
- Definition
- An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
- Super Class
- asphyxiating thoracic dystrophy autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110087
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
