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arthrogryposis, distal, with impaired proprioception and touch
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures.
Mondo Term and Equivalent IDs
MONDO:0014941: arthrogryposis, distal, with impaired proprioception and touch
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617146
UMLS:C4310692
MONDO:0014941
High level summary of knowledge for a disease, including descriptions and datasource references.