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Human Disease

short-rib thoracic dysplasia 11 with or without polydactyly

Term ID
DOID:0110095
Synonyms
  • SRTD11
Definition
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/24183449
References
Ontology
Human Disease   ( DOID:0110095 )
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