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trichorhinophalangeal syndrome type II

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
Uniprot Description A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation.
Disease Ontology Description An autosomal dominant disease that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose.
Mondo Term and Equivalent IDs
MONDO:0007874:  trichorhinophalangeal syndrome type II
GARD:0007801: 
MESH:D015826: 
NCIT:C75118: 
Orphanet:502: 
SCTID:41069008: 
UMLS:C0023003: