About: Klippel–Trénaunay

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About: Klippel–Trénaunay–Weber syndrome Goto Sponge NotDistinct Permalink

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syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues

Attributes	Values
rdf:type	Item
owl:sameAs	Klippel–Trénaunay–Weber syndrome
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) syndrome apparaissant dans le développement embryonnaire et qui se caractérise par l'association d'une hypertrophie des tissus osseux et mous, d'angiomes cutanés et de veines variqueuses (fr) syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues (en) disordine che colpisce la normale crescita dei vasi sanguigni, alterandola (it) typ av medfödd missbildning (sv)
exact match	wds:Q1774750-07E882EC-C4B1-4472-9C83-2B46848ADA91 wds:Q1774750-D04EF7E2-7DA0-41F6-8195-AF5C3EB0B4BC wds:Q1774750-E500C24B-2E58-492B-B704-B1EF5DF9589D
exact match	http://purl.obolibrary.org/obo/DOID_2926 http://identifiers.org/doid/DOID:2926 http://www.orpha.net/ORDO/Orphanet_90308
health specialty	wds:Q1774750-711D01AD-34FD-4483-A2EB-2693A62039F0
Mondo ID	wds:Q1774750-8E8569E9-61FE-4590-9B30-73B21840E1E8
DiseasesDB	wds:q1774750-53E114AC-3EBF-485D-8558-2D3F5B0062A7
Disease Ontology ID	wds:Q1774750-673937B8-7D48-4CFA-AB07-A1A980056EEB
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0019566
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:2926
health specialty	medical genetics
Mondo ID	MONDO_0019566
DiseasesDB	29324
Disease Ontology ID	DOID:2926
rdfs:label	KTW (ms) Klippel-Trenaunay sendromu (tr) Klippel-Trénaunay-Weber-Syndrom (de) Klippel-Trénaunay-Weberin oireyhtymä (fi) Klippel-Trénaunays syndrom (sv) Klippel–Trénaunay–Weber syndrome (en) Syndroom van Klippel-Trenaunay (nl) Síndrome de Klippel-Trenaunay-Weber (es) Síndrome de Klippel-Trenaunay-Weber (pt) Zespół Klippla-Trénaunaya (pl) rối loạn mạch máu bẩm sinh (vi) sindrome angio-osteoipertrofica (it) syndrome de Klippel-Trenaunay (fr) Синдром Кліппеля-Треноне (uk) متلازمة كليبل-ترينوناي (ar) クリッペル・トレノネー症候群 (ja) 先天性靜脈畸形骨肥大症候羣 (zh-hant) 先天性靜脈畸形骨肥大症候群 (zh)
skos:prefLabel	KTW (ms) Klippel-Trenaunay sendromu (tr) Klippel-Trénaunay-Weber-Syndrom (de) Klippel-Trénaunay-Weberin oireyhtymä (fi) Klippel-Trénaunays syndrom (sv) Klippel–Trénaunay–Weber syndrome (en) Syndroom van Klippel-Trenaunay (nl) Síndrome de Klippel-Trenaunay-Weber (es) Síndrome de Klippel-Trenaunay-Weber (pt) Zespół Klippla-Trénaunaya (pl) rối loạn mạch máu bẩm sinh (vi) sindrome angio-osteoipertrofica (it) syndrome de Klippel-Trenaunay (fr) Синдром Кліппеля-Треноне (uk) متلازمة كليبل-ترينوناي (ar) クリッペル・トレノネー症候群 (ja) 先天性靜脈畸形骨肥大症候羣 (zh-hant) 先天性靜脈畸形骨肥大症候群 (zh)
name	KTW (ms) Klippel-Trenaunay sendromu (tr) Klippel-Trénaunay-Weber-Syndrom (de) Klippel-Trénaunay-Weberin oireyhtymä (fi) Klippel-Trénaunays syndrom (sv) Klippel–Trénaunay–Weber syndrome (en) Syndroom van Klippel-Trenaunay (nl) Síndrome de Klippel-Trenaunay-Weber (es) Síndrome de Klippel-Trenaunay-Weber (pt) Zespół Klippla-Trénaunaya (pl) rối loạn mạch máu bẩm sinh (vi) sindrome angio-osteoipertrofica (it) syndrome de Klippel-Trenaunay (fr) Синдром Кліппеля-Треноне (uk) متلازمة كليبل-ترينوناي (ar) クリッペル・トレノネー症候群 (ja) 先天性靜脈畸形骨肥大症候羣 (zh-hant) 先天性靜脈畸形骨肥大症候群 (zh)
instance of	wds:Q1774750-08F8A95F-7313-4F27-9E25-37E8B9BFE50C wds:Q1774750-BBD209AF-0526-4369-A0BD-1F8C2E1B63FF
instance of	class of disease designated intractable/rare disease
subclass of	wds:Q1774750-02EFB844-9EAC-45D6-B4C4-B39F416FBE2E wds:Q1774750-447dbfb7-4065-611c-b7b7-f6f0d9bb68be wds:Q1774750-50DE7E79-5D0A-46FA-BE06-6A4E2189875A wds:Q1774750-d3f93662-43a0-3699-b59e-abdbd4dddbe1
subclass of	overgrowth syndrome syndrome PIK3CA-related overgrowth spectrum disease
eMedicine ID	wds:q1774750-19F0F9D2-97BD-4C60-BD6E-48B29B9E9BEB
eMedicine ID	1084257
KEGG ID	wds:Q1774750-6F45131A-3F8E-4CCC-8A84-5456AE266FD9
KEGG ID	http://www.kegg.jp/entry/H01788
KEGG ID	H01788
UniProt disease ID	wds:Q1774750-c4ffefa1-4a66-d792-bfcb-3edf8f91c9f6
Orphanet ID	wds:Q1774750-ACA5ADCC-B7A7-409E-9160-7F07B55CEBEE wds:Q1774750-E34DC31C-1C19-4EC3-BC76-B949C89AF2C2
ICD-10-CM	wds:Q1774750-A331E92C-6980-4ADB-84E9-9123E1505155

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