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cranioectodermal dysplasia 1
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.
Uniprot Description A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails.
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.
OMIM:218330
MONDO:0021093
High level summary of knowledge for a disease, including descriptions and datasource references.