About: Exfoliative ichthyosis

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Autosomal recessive exfoliative ichthyosis. Ichthyosis exfoliativa

Attributes	Values
rdf:type	Item
description	Autosomal recessive exfoliative ichthyosis. Ichthyosis exfoliativa (en)
exact match	wds:Q50824137-8D2A10CC-227A-46A1-A944-16A4F97E449D
exact match	http://www.orpha.net/ORDO/Orphanet_289586
Mondo ID	wds:Q50824137-0A81530B-F489-4924-9627-374A01CCD692
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0017339
Mondo ID	MONDO_0017339
rdfs:label	Exfoliative Ichthyose (de) Exfoliative ichthyosis (en) ichtyose exfoliative (fr)
skos:prefLabel	Exfoliative Ichthyose (de) Exfoliative ichthyosis (en) ichtyose exfoliative (fr)
name	Exfoliative Ichthyose (de) Exfoliative ichthyosis (en) ichtyose exfoliative (fr)
instance of	wds:Q50824137-8018E87B-0513-4891-8C31-8EC75AD49AB1 wds:Q50824137-98E9A3EB-7670-4B17-838C-96A800686EE2
instance of	class of disease rare disease
subclass of	wds:Q50824137-918648c0-4db5-c841-a208-f5e1465b7140 wds:Q50824137-cf0a6ce8-4407-22ad-327d-6a7747a222d0
subclass of	peeling skin syndrome autosomal recessive congenital ichthyosis
UniProt disease ID	wds:Q50824137-1f330caf-47c4-7228-c795-8e467f09ed9c
Orphanet ID	wds:Q50824137-B4BEB2F6-280F-455A-AEC5-D8B5A882CA90
genetic association	wds:Q50824137-6DC45F74-BDC5-4B52-9133-26A2C9F2AD0A wds:Q50824137-EC7AB499-C9BE-43C8-B731-AAD5B5182A5D
ICD-10-CM	wds:Q50824137-6C9BA7C2-CB25-46A5-BE25-79A849AEE201
OMIM ID	wds:Q50824137-617B1117-24B3-407B-BA67-7DE728555C38
UniProt disease ID	DI-03298
Orphanet ID	289586
genetic association	CSTA SERPINB8
ICD-10-CM	Q80.8
OMIM ID	607936
skos:altLabel	PSS4 (en) Autosomal recessive exfoliative ichthyosis (en) Ichthyosis Bullosa of Siemens-Like (en) Ichthyosis exfoliativa (en) Ichthyosis, Exfoliative, Autosomal Recessive (en) PEELING SKIN SYNDROME 4 (en) PEELING SKIN SYNDROME 4; PSS4 (en) Peeling Skin Syndrome type 4 (en) exfoliative ichthyosis (en)
UMLS CUI	wds:Q50824137-C65043A7-BC98-4E21-8FDD-204D8D5E7460 wds:Q50824137-EA95DBC7-EDE4-4D41-8DAE-6682E848804A
UMLS CUI	C1838440 C1842797
is owl:sameAs of	Exfoliative ichthyosis
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q50824137 https://de.wikipedia.org/wiki/Exfoliative_Ichthyose
is main subject of	Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa Autosomal dominant ichthyosis exfoliativa Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.
is main subject of	wds:Q42445396-B2F63FF6-78CC-48E9-9653-A6E90E8D4111 wds:Q70117738-65F149B7-E921-49EF-9632-05DCC25F3B54 wds:Q71644401-8B54AF42-B574-4E09-9997-9CEA5F47468C wds:Q24338550-4E9FE21E-9F20-414B-B7C0-5D64531A4B01 wds:Q41659700-6F236AE7-3E70-4DBE-BD49-947EC212A847 wds:Q28119069-D1ABB113-4F4B-448C-BDED-E6F505F116F0
is genetic association of	CSTA
is genetic association of	wds:Q17911027-74324E96-B99D-4658-B52A-F2716EA4E087

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