Search Ontology:
Human Disease

short-rib thoracic dysplasia 8 with or without polydactyly

Term ID
DOID:0110094
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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