About: junctional epidermolysis bullosa

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About: junctional epidermolysis bullosa Goto Sponge NotDistinct Permalink

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

skin condition characterized by blister formation within the lamina lucida of the basement membrane zone

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) skin condition characterized by blister formation within the lamina lucida of the basement membrane zone (en) forma di epidermolisi bollosa ereditaria, una genodermatosi caratterizzata dalla formazione di bolle a livello della lamina lucida in seguito a lievi traumi (it)
exact match	wds:Q3726862-68D47F33-AD1E-448E-9400-BC4189C3409F wds:Q3726862-89F54F21-C2ED-4975-9271-1A84C7BDC86D wds:Q3726862-AE42AFF6-6E83-4400-8447-8C15B4ECD9F6
exact match	http://purl.obolibrary.org/obo/DOID_3209 http://identifiers.org/doid/DOID:3209 http://www.orpha.net/ORDO/Orphanet_305
health specialty	wds:Q3726862-52DAD432-C73D-4DEA-AAF7-7C9B52D9D06C
ICD-10	wds:q3726862-F30AEDA6-7653-415B-8142-5ACE3357F1A0
Mondo ID	wds:Q3726862-EA86119C-EB4B-4019-9746-A75B8ECC318B
DiseasesDB	wds:q3726862-97C0F0B2-E6D3-4A30-BEB8-18BEC96FD839
Disease Ontology ID	wds:Q3726862-B0872B9E-ACDC-49F6-95F3-A8D4B4FDB196
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0017612
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:3209
health specialty	medical genetics
ICD-10	Q81.8
Mondo ID	MONDO_0017612
DiseasesDB	29579
Disease Ontology ID	DOID:3209
rdfs:label	انحلال البشرة الفقاعي الموصلي (ar) Epidermolysis bullosa junctionalis (de) epidermolisi bollosa giunzionale (it) junctional epidermolysis bullosa (en) épidermolyse bulleuse jonctionnelle (fr) 交界性大疱性表皮松解症 (zh) 交界性大疱性表皮松解症 (zh-hans) 交界性大皰性表皮鬆解症 (zh-hant) 接合部型表皮水疱症 (ja)
skos:prefLabel	انحلال البشرة الفقاعي الموصلي (ar) Epidermolysis bullosa junctionalis (de) epidermolisi bollosa giunzionale (it) junctional epidermolysis bullosa (en) épidermolyse bulleuse jonctionnelle (fr) 交界性大疱性表皮松解症 (zh) 交界性大疱性表皮松解症 (zh-hans) 交界性大皰性表皮鬆解症 (zh-hant) 接合部型表皮水疱症 (ja)
name	انحلال البشرة الفقاعي الموصلي (ar) Epidermolysis bullosa junctionalis (de) epidermolisi bollosa giunzionale (it) junctional epidermolysis bullosa (en) épidermolyse bulleuse jonctionnelle (fr) 交界性大疱性表皮松解症 (zh) 交界性大疱性表皮松解症 (zh-hans) 交界性大皰性表皮鬆解症 (zh-hant) 接合部型表皮水疱症 (ja)
instance of	wds:Q3726862-6D619CDD-CDC9-4C35-B735-2E590760D8C2 wds:Q3726862-8E1239DE-7506-465E-9E71-A25301BB5F6D
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q3726862-0771C67B-1D22-4EFF-8288-F26B3CD9DF89 wds:Q3726862-18C5D7DA-9566-4CE8-A8C5-C4EE2FAB130C wds:Q3726862-4F55A06B-49BC-489F-84AB-E29ADA5FBC84 wds:Q3726862-7DF202FF-4B02-4B75-9273-312FE77AB6D9
subclass of	epidermolysis bullosa malformation syndrome with skin/mucosae involvement rare disease with odontological manifestation inherited epidermolysis bullosa
KEGG ID	wds:Q3726862-E1F2FA21-C4BB-4229-8E9C-5823A557BC05
KEGG ID	http://www.kegg.jp/entry/H00586
KEGG ID	H00586
Orphanet ID	wds:Q3726862-9cdd0b16-4af8-7a4e-aa53-133233d53f5f
GARD rare disease ID	wds:Q3726862-54BE8701-F155-4865-B496-2775C07520DF
OMIM ID	wds:Q3726862-3958AFA1-26FB-41E1-8273-2CA91200C028
GeneReviews ID	wds:q3726862-37B99F8A-0EB6-4AD3-88E5-3F76F2D7B5F9
Orphanet ID	305
GARD rare disease ID	2152
OMIM ID	226700
GeneReviews ID	NBK1125
Medical Dictionary...ory Activities ID	wds:Q3726862-46B0A80E-E27F-41CC-9FFB-CD5F54F341A3
ICD-9 ID	wds:q3726862-C8F79431-3F01-4B20-A02C-2EE749577C1B
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10014989
Medical Dictionary...ory Activities ID	10014989
ICD-9 ID	757.39
skos:altLabel	JEB (en) EBJ (en) Epidermolysis bullosa atrophicans (en) Epidermolysis bullosa, junctional (en) congenital junctional epidermolysis bullosa (en) Congenital junctional epidermolysis bullosa (disorder) (en)
NCI Thesaurus ID	wds:Q3726862-39AB5D25-838F-43AB-8840-189787DF2869
UMLS CUI	wds:Q3726862-F5D32187-3A13-4BDD-979B-4318C5593A91
MeSH descriptor ID	wds:Q3726862-E38482E3-D298-4C47-9779-4C69007E005E
on focus list of Wikimedia project	wds:Q3726862-6361E3B9-04E7-4C48-ACE1-BF10E595DCC3
MeSH tree code	wds:Q3726862-5FFB177F-0AEF-45D3-8762-5C4757F3605A wds:Q3726862-747BD72C-743E-4443-A1FE-FAD031025B5E wds:Q3726862-9BD949CE-2E90-4739-A33F-360223E59BA4 wds:Q3726862-AE766CCD-9683-4AE9-B17A-C9D8E42B7FBD wds:Q3726862-C83A41A0-319A-45C6-A32A-42244ADD20C1
ICD-11 ID (MMS)	wds:Q3726862-9a517c4a-c86f-4c09-b41f-4d4095722354
ICD-11 (foundation)	wds:Q3726862-0470F863-E56B-400D-A346-9C7255A2D8FD
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D016109
MeSH tree code	http://id.nlm.nih.gov/mesh/C16.131.831.493.170 http://id.nlm.nih.gov/mesh/C16.320.850.275.170 http://id.nlm.nih.gov/mesh/C17.800.804.493.170

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