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trichorhinophalangeal syndrome type I or III
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.
Mondo Term and Equivalent IDs
MONDO:0019176: trichorhinophalangeal syndrome type I or III
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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.
Orphanet:77258
UMLS:CN205736
MONDO:0019176
High level summary of knowledge for a disease, including descriptions and datasource references.