About: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

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About: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Item
exact match	wds:Q55783756-4C1E651D-2A4A-4BE2-A5C5-7886697B6B29
exact match	http://www.orpha.net/ORDO/Orphanet_85112
Mondo ID	wds:Q55783756-F7D3B338-AC7B-4860-9F26-6719F37E0281
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012530
Mondo ID	MONDO_0012530
rdfs:label	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (en)
skos:prefLabel	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (en)
name	palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (en)
instance of	wds:Q55783756-2568FA37-852B-466C-BB38-DAE53C9900FC wds:Q55783756-577F2E6D-71DC-4674-9267-4DCF2F443821 wds:Q55783756-CE6A4DDF-26F0-4D23-AADE-A65A88F9243E
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q55783756-47C47C59-CEFE-407A-8B82-A194706CD436 wds:Q55783756-7409CBA8-9720-4F15-8D68-EE730227570D wds:Q55783756-B6EEA0FE-A348-43E4-901B-023E639BDA64
subclass of	autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature syndrome with disorder of sex development of gynecological interest syndrome with 46,XX disorder of sex development
KEGG ID	wds:Q55783756-8FFE8827-25AD-402E-91D7-A722FDC31DD1
KEGG ID	http://www.kegg.jp/entry/H02318
KEGG ID	H02318
UniProt disease ID	wds:Q55783756-4e07c93a-4820-8df9-da9c-1c6e3b1d6c64
Orphanet ID	wds:Q55783756-91AFA344-847B-4B9E-9E97-5CAAF20EFA38
genetic association	wds:Q55783756-8A8978C8-6F9D-4BF1-ACA7-E75A8B101E48
ICD-10-CM	wds:Q55783756-426530A0-18E2-4308-ACCB-2F005A1A4A03
OMIM ID	wds:Q55783756-F1C23A0B-E15E-4DC6-B49B-A7CBE2BF87F3
UniProt disease ID	DI-00899
Orphanet ID	85112
genetic association	RSPO1
ICD-10-CM	Q56.0
OMIM ID	610644
skos:altLabel	Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome (en) PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (en) Palmoplantar Hyperkeratosis and True Hermaphroditism (en)
UMLS CUI	wds:Q55783756-02840F33-CF47-42BA-A104-5C00D3F99FC0 wds:Q55783756-792623B7-2B43-442B-A729-D280037F11EA wds:Q55783756-7E52262D-AB00-4D7D-95A9-20E65704D289
MeSH descriptor ID	wds:Q55783756-6B3AA923-666C-4951-9906-3D0CAD7C4095
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567165
UMLS CUI	C2674504 C3149931 C5680209
MeSH descriptor ID	C567165
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783756
is genetic association of	RSPO1
is genetic association of	wds:Q18054358-B0CF4DB9-7073-466E-86C4-8B0B24890553

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