OBO ID: DOID:0110096
Term Name: short-rib thoracic dysplasia 14 with polydactyly Search Ontology:
Synonyms:
  • SRTD14
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/26166481
References:
Ontology: Human Disease   ( DOID:0110096 )
OTHER short-rib thoracic dysplasia 14 with polydactyly PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIAA0586 Short-rib thoracic dysplasia 14 with polydactyly 616546
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None