Mondo Description Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Disease Ontology Description An autosomal recessive disease that is characterized by microcephaly, bradydactyly, hypodontia, renal failure, cardiac defects, liver fibrosis and other gross physical abnormalities and has_material_basis_in mutations in genes that control intraflagellar transport, IFT122, IFT43 or IFT121.
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.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0050577
GARD:0000359
NCIT:C129305
OMIMPS:218330
Orphanet:1515
SCTID:254093009
UMLS:C0432235
UMLS:CN016627
UMLS:CN119432
MONDO:0009032
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