You are using an outdated browser. Please upgrade your browser to improve your experience.

angioosteohypertrophic syndrome

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


Explore Associated Targets
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: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

5032

Tdark

1219

Tchem

988

Tclin

348

Tbio

3563

Tchem

726

Tdark

516

Tclin

395

Tbio

1151

Tchem

254

Tclin

131

Tdark

69

Tbio

119

Tchem

37

Tclin

19

Tdark

8

Tbio

43

Tclin

27

Tchem

23

Tdark

1

Tbio

30

Tchem

12

Tclin

10

Tdark

1

Children
Target Novelty (Tin-x)