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cranioectodermal dysplasia 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.
Uniprot Description A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth.
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:613610
UMLS:C3150874
MONDO:0013323
High level summary of knowledge for a disease, including descriptions and datasource references.