About: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome

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About: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome Goto Sponge NotDistinct Permalink

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

Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML

Attributes	Values
rdf:type	Item
description	Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML (en)
exact match	wds:Q55783136-5F483F0C-8439-4EC9-AC4E-0A14D9EDC21D
exact match	http://www.orpha.net/ORDO/Orphanet_71290
Mondo ID	wds:Q55783136-E230F794-5D78-46C8-B0DB-EDAF42CF4328
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011071
Mondo ID	MONDO_0011071
rdfs:label	hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome (en)
skos:prefLabel	hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome (en)
name	hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome (en)
instance of	wds:Q55783136-390A9197-DE54-438B-BD27-8E2370421EDD wds:Q55783136-B564F25D-1DF8-45D1-82A4-C0B4077629DB
instance of	class of disease rare disease
subclass of	wds:Q55783136-19F798A3-58B2-425B-B749-C0A37955340D wds:Q55783136-978DF04F-34CF-47AA-9358-1E76F3E359DA wds:Q55783136-B7DF6873-0965-4BD5-BE8D-8A5867742997 wds:Q55783136-F4011451-1CD8-4741-8465-D2CF753F7E4D wds:Q55783136-ddb5e8ee-4f60-be38-ce49-83ac2baab7ab
subclass of	hereditary neoplastic syndromes isolated constitutional thrombocytopenia inherited tumor dense granule disease hereditary thrombocytopenia with normal platelets
Orphanet ID	wds:Q55783136-04594262-4642-4DD7-898C-897B907F4F44
genetic association	wds:Q55783136-AB9FA4D6-EF64-40C0-931C-AF98B75D65A4 wds:Q55783136-C570882C-489F-486C-90BD-2176BFB59CCD
ICD-10-CM	wds:Q55783136-B9458ADF-7209-4C32-B2D4-057C8658BE69
OMIM ID	wds:Q55783136-E177AFB4-1234-47D0-9630-AA3D0CCFDEA6
Orphanet ID	71290
genetic association	RUNX1 ETV6
ICD-10-CM	D69.4
OMIM ID	601399
skos:altLabel	Thrombocytopenia, Familial, With Propensity to Acute Myelogenous Leukemia (en) FPD/AML syndrome (en) FPDMM (en) FPS/AML syndrome (en) PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (en) Platelet Disorder, Aspirin-Like (en) PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM (en) Familial platelet disorder with associated myeloid malignancy (en) Familial platelet syndrome with predisposition to acute myelogenous leukemia (en)
NCI Thesaurus ID	wds:Q55783136-aead6a57-47bf-edb1-9caf-58cd3e914751
UMLS CUI	wds:Q55783136-74A98DC1-55F5-4119-BCD1-AF5A57A4E2E5
MeSH descriptor ID	wds:Q55783136-1AA768F2-6FB3-4335-B049-C5C88CC89715
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C563324
NCI Thesaurus ID	C162696
UMLS CUI	C1832388
MeSH descriptor ID	C563324
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783136
is genetic association of	RUNX1
is genetic association of	wds:Q15320451-F866F311-7C54-40BE-9F4C-61277B140F9B
is established from medical condition of	GENYOi005-A
is established from medical condition of	wds:Q93560855-D762A9FA-4AA4-49B6-BC32-09598094E555

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