About: platelet-type bleeding disorder 19

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About: platelet-type bleeding disorder 19 Goto Sponge NotDistinct Permalink

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	human disease (en) хвороба людини (uk)
exact match	wds:Q32146489-40FD1940-4C66-4084-B4B1-9267D02863E9 wds:Q32146489-D449208C-4D41-4A37-B574-300CBB659AC9 wds:Q32146489-DBCE83E1-CF94-4DD2-A99E-6856D8745D6B
exact match	http://purl.obolibrary.org/obo/DOID_0111048 http://identifiers.org/doid/DOID:0111048 http://www.orpha.net/ORDO/Orphanet_438207
Mondo ID	wds:Q32146489-CE786FCA-E11E-4D35-87BF-7FF754B41F05
Disease Ontology ID	wds:Q32146489-EF91A2EA-0C47-49FA-AD4C-B7652093F253
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014518
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111048
Mondo ID	MONDO_0014518
Disease Ontology ID	DOID:0111048
rdfs:label	macrothrombocytopénie sévère autosomique récessive (fr) Autosomal-rezessive Makrothrombozytopenie (de) platelet-type bleeding disorder 19 (en)
skos:prefLabel	macrothrombocytopénie sévère autosomique récessive (fr) Autosomal-rezessive Makrothrombozytopenie (de) platelet-type bleeding disorder 19 (en)
name	macrothrombocytopénie sévère autosomique récessive (fr) Autosomal-rezessive Makrothrombozytopenie (de) platelet-type bleeding disorder 19 (en)
instance of	wds:Q32146489-2A81C736-D792-49BD-8A72-FF24A2BC7370 wds:Q32146489-C8DEECB3-C545-4C61-86EB-B0B340168E58
instance of	class of disease rare disease
subclass of	wds:Q32146489-53E84B4C-B193-4E09-B454-DC21A068447C wds:Q32146489-8CB9A4BE-3EC2-4216-8C30-43F197560EC4 wds:Q32146489-C2711FE1-21DC-4E53-8C14-89F870B407D3 wds:Q32146489-E34A0723-0F64-4DF8-9C14-5AC70C9E4204
subclass of	autosomal recessive disease blood platelet disease inherited blood coagulation disease Inherited giant platelet disorder
Google Knowledge Graph ID	wds:Q32146489-E3313542-A065-4BC6-B809-17513F096FC1
Google Knowledge Graph ID	http://g.co/kg/g/11gjhfrhgl
Google Knowledge Graph ID	/g/11gjhfrhgl
UniProt disease ID	wds:Q32146489-1b9a44d5-4684-1869-2671-bd8e35dc262c
Orphanet ID	wds:Q32146489-AA7B4F5D-E932-486D-A45B-67CABC1C3C6A
genetic association	wds:Q32146489-EDF0B378-CAD9-44C5-B807-1BD5517B5B95
ICD-10-CM	wds:Q32146489-BBC65E72-EA06-465A-B8F6-0E435464A410
OMIM ID	wds:Q32146489-6CD9CA62-214A-4B85-B387-A70F1AAC975B
UniProt disease ID	DI-04294
Orphanet ID	438207
genetic association	PRKACG
ICD-10-CM	D69.4
OMIM ID	616176
skos:altLabel	BDPLT19 (en) BLEEDING DISORDER, PLATELET-TYPE, 19 (en) BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 (en) severe autosomal recessive macrothrombocytopenia (en)
UMLS CUI	wds:Q32146489-B55D095B-B41A-4AA0-B26D-717F2645307B
on focus list of Wikimedia project	wds:Q32146489-8CEE27CB-FEB2-4620-9DAD-9E63134AC224
UMLS CUI	C4015405
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	platelet-type bleeding disorder 19
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q32146489 https://de.wikipedia.org/wiki/Autosomal-rezessive_Makrothrombozytopenie
is genetic association of	PRKACG
is genetic association of	wds:Q18030761-C89FB2F9-1155-464D-B693-F0810908AAEE

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