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angioosteohypertrophic syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007864

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. [ https://orcid.org/0000-0001-5208-3432 Orphanet:2346 ]

Synonyms: Klippel-Trenaunay-Weber syndrome Klippel-Trénaunay syndrome haemangiectatic hypertrophy angioosteohypertrophy syndrome Klippel-Trénaunay-Weber syndrome Klippel-Trenaunay syndrome Klippel-Trenaunay-Weber syndrome, Isolated cases Weber-Klippel-Trenaunay Klippel-Trenaunay Syndrome Klippel Trenaunay syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D007715 (MONDO:equivalentTo)
  • MEDGEN:9646 (MONDO:equivalentTo)
  • DOID:2926 (MONDO:equivalentTo)
  • OMIM:149000 (Orphanet:90308/ntbt)
  • GARD:3122 (MONDO:GARD)
  • UMLS:C0022739 (MONDO:equivalentTo)
  • Orphanet:90308 (OMIM:149000)
  • Orphanet:2346 (OMIM:149000)
  • icd11.foundation:1561120378 (https://orcid.org/0000-0002-4142-7153)
  • NORD:1337 (MONDO:NORD)
  • NCIT:C84801 (MONDO:equivalentTo)
  • NANDO:2201030 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:721105004 (MONDO:equivalentTo)
  • NANDO:1200884 (https://orcid.org/0000-0003-0011-764X)
  • MedDRA:10051452 (Orphanet:90308/e)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6740

https://github.com/monarch-initiative/mondo/issues/6751

https://github.com/monarch-initiative/mondo/issues/4521

https://github.com/monarch-initiative/mondo/issues/5682

closeMatch

http://identifiers.org/meddra/10051452

exactMatch

http://identifiers.org/mesh/D007715

http://linkedlifedata.com/resource/umls/id/C0022739

http://purl.obolibrary.org/obo/NCIT_C84801

http://purl.obolibrary.org/obo/DOID_2926

http://www.orpha.net/ORDO/Orphanet_2346

https://omim.org/entry/149000

http://www.orpha.net/ORDO/Orphanet_90308

http://identifiers.org/medgen/9646

http://identifiers.org/snomedct/721105004

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019293

has related synonym

Ktw syndrome

angio-osteohypertrophy syndrome

KTS

id

MONDO:0007864

seeAlso

https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome