About: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

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About: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)

Attributes	Values
rdf:type	Item
owl:sameAs	ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate) (en) rara forma di displasia ectodermica, un disordine autosomico dominante ereditario (it)
exact match	wds:Q5334319-5C8F33B0-1445-40EC-B716-F5D19884DD50 wds:Q5334319-8E8E5027-4FF8-45AA-B14E-B36BF8BDE76A wds:Q5334319-CD6CD21F-2973-49CE-9EF4-19EB1DEEDFFA
exact match	http://purl.obolibrary.org/obo/DOID_0060782 http://identifiers.org/doid/DOID:0060782 http://www.orpha.net/ORDO/Orphanet_1896
health specialty	wds:Q5334319-A8984755-9353-4CAD-AAC3-7513A6586AAE
DiseasesDB	wds:q5334319-F6CAF99C-AB2F-48F0-B2E5-18BCCC0E1DF2
Disease Ontology ID	wds:Q5334319-63D6770F-A5CB-4216-8730-8A8F88303135
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060782
health specialty	medical genetics
DiseasesDB	34402
Disease Ontology ID	DOID:0060782
rdfs:label	EEC sendromu (tr) EEC-Syndrom (de) EEC綜合徵 (zh) Zespół EEC (pl) sindrome EEC (it) syndrome EEC (fr) ectrodactyly–ectodermal dysplasia–cleft syndrome (en) 先天性缺指（趾）-外胚层发育不良-唇/颚裂综合征 (zh-hans) 先天性缺指（趾）-外胚层发育不良-唇/颚裂症候群 (zh-hant) سندرم ای‌ای‌سی (fa) กลุ่มอาการ EEC (th) متلازمة انعدام الأصابع وخلل التنسج الأديمي (ar)
skos:prefLabel	EEC sendromu (tr) EEC-Syndrom (de) EEC綜合徵 (zh) Zespół EEC (pl) sindrome EEC (it) syndrome EEC (fr) ectrodactyly–ectodermal dysplasia–cleft syndrome (en) 先天性缺指（趾）-外胚层发育不良-唇/颚裂综合征 (zh-hans) 先天性缺指（趾）-外胚层发育不良-唇/颚裂症候群 (zh-hant) سندرم ای‌ای‌سی (fa) กลุ่มอาการ EEC (th) متلازمة انعدام الأصابع وخلل التنسج الأديمي (ar)
name	EEC sendromu (tr) EEC-Syndrom (de) EEC綜合徵 (zh) Zespół EEC (pl) sindrome EEC (it) syndrome EEC (fr) ectrodactyly–ectodermal dysplasia–cleft syndrome (en) 先天性缺指（趾）-外胚层发育不良-唇/颚裂综合征 (zh-hans) 先天性缺指（趾）-外胚层发育不良-唇/颚裂症候群 (zh-hant) سندرم ای‌ای‌سی (fa) กลุ่มอาการ EEC (th) متلازمة انعدام الأصابع وخلل التنسج الأديمي (ar)
instance of	wds:Q5334319-F0D798E6-8045-4370-9A3E-B9CD098596C6
instance of	class of disease
subclass of	wds:Q5334319-21245161-400b-7a21-3664-3d5a774a9ad7 wds:Q5334319-A7F3EC6C-111C-4FB2-8346-CC439C8D0CF1 wds:Q5334319-A92F97DC-BBC8-496F-8899-A04564A3B7AD
subclass of	syndrome autosomal dominant disease ectodermal dysplasia
KEGG ID	wds:Q5334319-124588DA-001A-4BE1-9897-C9E7C1698BA5
KEGG ID	http://www.kegg.jp/entry/H00638
KEGG ID	H00638
Orphanet ID	wds:Q5334319-C7EF7A76-4A7D-41E8-A417-677EC99AE311
GARD rare disease ID	wds:Q5334319-B71FC88F-0C0C-4302-AC80-8A3957073F9D
OMIM ID	wds:Q5334319-C1560CC3-1B07-404E-943F-4AFE2E5DDA72
Orphanet ID	1896
GARD rare disease ID	2076
OMIM ID	129900
skos:altLabel	EEC syndrome (en) displasia ectodermica (it) ectrodattilia (it) EEC syndrome (th) Ectrodactyly-ectodermal dysplasia-cleft syndrome (th) Rudiger syndrome 1 (en) Walker-Clodius syndrome (en) labiopalatoschisi (it) ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome (en) syndrome de Walker-Clodius (fr) ectrodactyly-ectodermal dysplasia-clefting syndrome (en) Zespół ektrodaktylia-dysplazja ektodermalna-rozszczepy (pl) Split hand-split foot-ectodermal dysplasia-cleft syndrome (th) Ektodermalny zespół dysplastyczno-rozszczepienny z ektrodaktylią (pl)
NCI Thesaurus ID	wds:Q5334319-0055b49e-46eb-56cc-ecf1-0c05dfdafbca
UMLS CUI	wds:Q5334319-3EFEBBAE-FC8F-44C2-B7A2-DD93BB243F03
MeSH descriptor ID	wds:Q5334319-82FECA21-1171-41D0-ABEC-25363DD330D5
on focus list of Wikimedia project	wds:Q5334319-641F53CE-E2A9-415A-B980-9CB8AEB1C244
Microsoft Academic ID	wds:Q5334319-1D5B5630-6769-4A94-A4EF-4F6B365FC158
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536189
Microsoft Academic ID	https://makg.org/entity/2776024842
NCI Thesaurus ID	C148261
UMLS CUI	C0406704
MeSH descriptor ID	C536189
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2776024842
WikiProjectMed ID	wds:Q5334319-123D4037-1D3C-4704-8A44-B0838EFF56EC

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