You are using an outdated browser. Please upgrade your browser to improve your experience.
cranioectodermal dysplasia 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.
Uniprot Description A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.
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:614099
UMLS:C3279807
MONDO:0013573
High level summary of knowledge for a disease, including descriptions and datasource references.