You are using an outdated browser. Please upgrade your browser to improve your experience.
short-rib thoracic dysplasia 10 with or without polydactyly
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
Uniprot Description A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Mondo Term and Equivalent IDs
MONDO:0014284: short-rib thoracic dysplasia 10 with or without polydactyly
Download Data for short-rib thoracic dysplasia 10 with or without polydactyly
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110091
OMIM:615630
UMLS:C3810175
MONDO:0014284
High level summary of knowledge for a disease, including descriptions and datasource references.