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cranioectodermal dysplasia

Disease Summary
Associated Targets (6)
Tbio

6


Explore Associated Targets
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.
Mondo Term and Equivalent IDs
MONDO:0009032:  cranioectodermal dysplasia
GARD:0000359: 
NCIT:C129305: 
OMIMPS:218330: 
Orphanet:1515: 
SCTID:254093009: 
UMLS:C0432235: 
UMLS:CN016627: 
UMLS:CN119432: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)