Search Ontology:
Human Disease

short-rib thoracic dysplasia 7 with or without polydactyly

Term ID
DOID:0110090
Synonyms
  • short rib-polydactyly syndrome type V
  • SRPS5
  • SRTD7
Definition
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. (2)
References
Ontology
Human Disease   ( DOID:0110090 )
Relationships
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Genes Involved
Zebrafish Models