asphyxiating thoracic dystrophy 3

Term ID

DOID:0110087

Synonyms

• ATD3
• polydactyly with neonatal chondrodystrophy, type I
• polydactyly with neonatal chondrodystrophy, type III
• Saldino-Noonan syndrome
• short rib-polydactyly syndrome, type I
• short rib-polydactyly syndrome, type IIB
• short-rib thoracic dysplasia 3 with or without polydactyly
• SRPS1
• SRPS2B
• SRPS3
• SRTD3
• Verma-Naumoff syndrome

Definition

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. https://www.ncbi.nlm.nih.gov/pubmed/19442771

References

• ICD10CM:Q77.2
• OMIM:613091

Ontology

Human Disease   ( DOID:0110087 )