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thumb stiffness-brachydactyly-intellectual disability syndrome
Disease Summary
Associated Targets ()
Mondo Description Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.
Mondo Term and Equivalent IDs
MONDO:0008563: thumb stiffness-brachydactyly-intellectual disability syndrome
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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:0004375
GARD:0005200
OMIM:188201
Orphanet:1078
MONDO:0008563
High level summary of knowledge for a disease, including descriptions and datasource references.