Search Ontology:
Human Disease

short-rib thoracic dysplasia 10 with or without polydactyly

Term ID
DOID:0110091
Synonyms
  • SRTD10
Definition
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/24140113
References
Ontology
Human Disease   ( DOID:0110091 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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