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angioosteohypertrophic syndrome

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


GARD Rare
Mondo Description Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
Uniprot Description Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Disease Ontology Description A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Mondo Term and Equivalent IDs
MONDO:0007864:  angioosteohypertrophic syndrome
EFO:0007334: 
GARD:0003122: 
MESH:D007715: 
NCIT:C84801: 
Orphanet:2346: 
SCTID:721105004: 
UMLS:C0022739: 
UMLS:CN201567: