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spondyloepiphyseal dysplasia, Cantu type
Disease Summary
Associated Targets ()
Mondo Description Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Mondo Term and Equivalent IDs
MONDO:0012716: spondyloepiphyseal dysplasia, Cantu type
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0010629
MESH:C567128
OMIM:611717
Orphanet:163654
SCTID:718765003
UMLS:C2673649
MONDO:0012716
High level summary of knowledge for a disease, including descriptions and datasource references.