About: peeling skin syndrome

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

Human disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar) forme rare d'ichtyose (fr)
exact match	wds:Q17120550-38D64E24-43D9-4303-9CA8-C5741BB5B1AB wds:Q17120550-4054E443-15FA-4B8C-9DDC-EEDBEC2049F1 wds:Q17120550-6CB67624-CEF0-4EE6-A338-617B7F861EB7
exact match	http://www.orpha.net/ORDO/Orphanet_263543 http://purl.obolibrary.org/obo/DOID_0060283 http://identifiers.org/doid/DOID:0060283
health specialty	wds:Q17120550-E06BD7AC-E6C7-45E9-9BE8-41589808E1FC
Mondo ID	wds:Q17120550-4D04FE31-E647-47D2-9190-C8C2B9CFF22D
Disease Ontology ID	wds:Q17120550-0DB8D23D-E093-41CF-AE96-ADB02959354E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013124
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060283
health specialty	medical genetics
Mondo ID	MONDO_0013124
Disease Ontology ID	DOID:0060283
rdfs:label	Peeling-Skin-Syndrom (de) peeling skin syndrome (en) peeling skin syndrome (fr) متلازمة تقشير الجلد (ar)
skos:prefLabel	Peeling-Skin-Syndrom (de) peeling skin syndrome (en) peeling skin syndrome (fr) متلازمة تقشير الجلد (ar)
name	Peeling-Skin-Syndrom (de) peeling skin syndrome (en) peeling skin syndrome (fr) متلازمة تقشير الجلد (ar)
instance of	wds:Q17120550-015610A6-2C25-4BEA-8856-2D0AAA16CB19 wds:Q17120550-6E677851-A3CB-4A80-949E-063306ABE2B2
instance of	class of disease rare disease
subclass of	wds:Q17120550-14C027BB-FCDC-4978-92B7-737A4872EDEC wds:Q17120550-d31e62ac-4631-95f4-a147-a1fd6639e11e
subclass of	desquamation skin disease
KEGG ID	wds:Q17120550-58D2572F-FA6A-4339-B115-794063099D9E
KEGG ID	http://www.kegg.jp/entry/H00737
KEGG ID	H00737
Orphanet ID	wds:Q17120550-55C670B4-E9F1-470D-9754-3C065D201B23 wds:Q17120550-EBAA073F-FE84-4932-A31F-8FD82A345D43
genetic association	wds:Q17120550-67F621F1-B385-49D9-902E-76D2C905A1DA
ICD-10-CM	wds:Q17120550-3B911288-E5C1-41CC-9427-23B5969FC1AA
GARD rare disease ID	wds:Q17120550-E35E4B9B-E2CF-4DC3-9F24-88C44301AF88
OMIM ID	wds:Q17120550-2805FC06-5BB9-45BA-AB9D-0BE51C97A50A wds:Q17120550-F72BEBBF-1880-48D9-B3FA-56318F8C815D
Orphanet ID	817 263543
genetic association	CDSN
ICD-10-CM	Q80.8
GARD rare disease ID	7347
OMIM ID	613088 270300
skos:altLabel	PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2 (en) Pelvic Organ Prolapse, Susceptibility To, type 2 (en) Pvop2 (en)
UMLS CUI	wds:Q17120550-27C9B928-8FF0-4FAD-850A-C2AFDB504CB9 wds:Q17120550-35534E07-9B7E-43AE-95E5-1C5B9C73DADA wds:Q17120550-5E6427EB-8771-47B3-B19D-94DD7C5422DF
on focus list of Wikimedia project	wds:Q17120550-61CB2E54-C33D-44C5-9B6D-221AE35B4A7A
Microsoft Academic ID	wds:Q17120550-DFA9D63A-1468-4BDA-8951-6D5D1CE86546
Microsoft Academic ID	https://makg.org/entity/2780971401
UMLS CUI	C1849193 C2751314 C4305156
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2780971401
is owl:sameAs of	peeling skin syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q17120550 Peeling skin syndrome https://de.wikipedia.org/wiki/Peeling-Skin-Syndrom https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D8%AA%D9%82%D8%B4%D9%8A%D8%B1_%D8%A7%D9%84%D8%AC%D9%84%D8%AF
is subclass of of	acral peeling skin syndrome Exfoliative ichthyosis peeling skin syndrome type a peeling skin syndrome type b peeling skin syndrome 5; PSS5
is subclass of of	wds:Q56013550-eb0a3e62-4190-167e-08fa-eec451ed5574 wds:Q55785114-18172543-40b5-d417-3558-46503dd0c9f4 wds:Q56013915-3459470e-4828-6f73-3636-2cfbad734603 wds:Q50824137-918648c0-4db5-c841-a208-f5e1465b7140 wds:Q55783694-fe34c557-4c43-1d22-c737-c400048fa74d
is main subject of	Comèl-Netherton syndrome and peeling skin syndrome type B: overlapping syndromes or one entity? Acral peeling skin syndrome in two East-African siblings: case report Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. Acral peeling skin syndrome Acral peeling skin syndrome The peeling skin syndrome Localized peeling skin syndrome: case report with ultrastructural study Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder

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