OBO ID: DOID:0110090
Term Name: short-rib thoracic dysplasia 7 with or without polydactyly Search Ontology:
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
is a type of:
OTHER short-rib thoracic dysplasia 7 with or without polydactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WDR35 Short-rib thoracic dysplasia 7 with or without polydactyly 614091
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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