You are using an outdated browser. Please upgrade your browser to improve your experience.
Smith-McCort dysplasia 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.
Uniprot Description A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.
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:615222
UMLS:C3714896
MONDO:0014087
High level summary of knowledge for a disease, including descriptions and datasource references.