OBO ID: DOID:0110094
Term Name: short-rib thoracic dysplasia 8 with or without polydactyly Search Ontology:
Synonyms:
  • short rib-polydactyly syndrome type VI
  • SRPS6
  • SRTD8
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/23910462
References:
Ontology: Human Disease   ( DOID:0110094 )
Relationships
is a type of:
OTHER short-rib thoracic dysplasia 8 with or without polydactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly 615503
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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