Search Ontology:
Human Disease

short-rib thoracic dysplasia 14 with polydactyly

Term ID
DOID:0110096
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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