About: camptodactyly-arthropathy-coxa vara-pericarditis syndrome

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About: camptodactyly-arthropathy-coxa vara-pericarditis syndrome Goto Sponge NotDistinct Permalink

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autosomal recessive genetic condition

Attributes	Values
rdf:type	Item
owl:sameAs	camptodactyly-arthropathy-coxa vara-pericarditis syndrome
description	autosomal recessive genetic condition (en)
exact match	wds:Q5028560-9F070D8C-CAC3-41DA-8106-3365A3BF2DFD wds:Q5028560-AE911309-989F-4974-B42E-CADC3B3E0B95
exact match	http://purl.obolibrary.org/obo/DOID_0090127 http://identifiers.org/doid/DOID:0090127
Experimental Factor Ontology ID	wds:Q5028560-9E3DC020-1AE9-4BC6-A46C-86198728D892
Mondo ID	wds:Q5028560-D18A8F37-C42C-44B6-A5AD-A512FB86CC3B
Disease Ontology ID	wds:Q5028560-14FA5841-CFAD-4B56-93ED-E976D48DDD3E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008828
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0090127
Experimental Factor Ontology ID	0009028
Mondo ID	MONDO_0008828
Disease Ontology ID	DOID:0090127
rdfs:label	camptodactyly-arthropathy-coxa vara-pericarditis syndrome (en) syndrome de camptodactylie-arthropathie-coxa vara-péricardite (fr)
skos:prefLabel	camptodactyly-arthropathy-coxa vara-pericarditis syndrome (en) syndrome de camptodactylie-arthropathie-coxa vara-péricardite (fr)
name	camptodactyly-arthropathy-coxa vara-pericarditis syndrome (en) syndrome de camptodactylie-arthropathie-coxa vara-péricardite (fr)
instance of	wds:Q5028560-26F7B3A1-F945-45B9-8411-9BD8B3E4F6F1 wds:Q5028560-CC1F25D4-AD22-4BA2-83EC-43A8FAD2257A
instance of	class of disease rare disease
subclass of	wds:Q5028560-4018F183-B3A1-4988-95F6-4E0E3853E3EA wds:Q5028560-404224EB-DEB5-4B81-9B3B-666DDD264DE5 wds:Q5028560-82C063EA-77AD-42ED-83E8-676C37921E8A wds:Q5028560-BF0E7701-F62F-4CB1-9448-03F49E44F53B wds:Q5028560-EE074D29-551D-4B1D-AF9E-38C4EAF20A62
subclass of	syndrome genetic systemic or rheumatologic disease autosomal recessive disease rare rheumatologic disease rare genetic disease
KEGG ID	wds:Q5028560-FB3325AF-A7DD-433C-B434-0A229B4E66D7
KEGG ID	http://www.kegg.jp/entry/H00526
KEGG ID	H00526
UniProt disease ID	wds:Q5028560-9faef5c5-4750-1b1a-ed86-5fd6739ff0db
Orphanet ID	wds:Q5028560-84772c84-41c4-ebe8-4e90-b3f219e95879
genetic association	wds:Q5028560-1EF61922-DCE1-4864-9BD3-90C40FEE5803
GARD rare disease ID	wds:Q5028560-31725282-87AE-4063-BD9C-0E9DEED2CD99
OMIM ID	wds:Q5028560-0abeecd7-46e8-f5d7-9e2e-99214c1330d2
UniProt disease ID	DI-01313
Orphanet ID	2848
genetic association	PRG4
GARD rare disease ID	306
OMIM ID	208250
skos:altLabel	CACP (en) Arthropathy camptodactyly syndrome (en) CACP syndrome (en) CAP syndrome (en) Camptodactyly arthropathy pericarditis syndrome (en) Fibrosing serositis, familial (en) Hypertrophic Synovitis, Congenital Familial (en) Jacobs syndrome (en) PAC syndrome (en) Pericarditis arthropathy camptodactyly syndrome (en) arthropathy-camptodactyly syndrome (en) CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME (en) camptodactyly-arthropathy-pericarditis syndrome (en) congenital familial hypertrophic synovitis (en) familial fibrosing serositis (en) pericarditis-arthropathy-camptodactyly syndrome (en) CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP (en) Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (en) Camptodactyly arthropathy coxa vara pericarditis syndrome (en)
UMLS CUI	wds:Q5028560-8FAC3247-0F67-4C32-88E1-2E80B5BDF5D5
MeSH descriptor ID	wds:Q5028560-A4DCB0EF-839D-4B53-9F28-5425A7F986F9 wds:Q5028560-CE70B51B-086C-407D-A926-DFF3B7986179
on focus list of Wikimedia project	wds:Q5028560-99346257-C776-4051-B89B-865940C6296C
Microsoft Academic ID	wds:Q5028560-811A3B4F-D2E9-4531-AFD3-93514A311220
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537560
Microsoft Academic ID	https://makg.org/entity/2780338763
UMLS CUI	C1859690
MeSH descriptor ID	C537560
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2780338763
WikiProjectMed ID	wds:Q5028560-2AC3674C-A6D4-40FF-AB23-27D9722BB01E
WikiProjectMed ID	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
is owl:sameAs of	camptodactyly-arthropathy-coxa vara-pericarditis syndrome
is about of	camptodactyly-arthropathy-coxa vara-pericarditis syndrome https://www.wikidata.org/wiki/Special:EntityData/Q5028560 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
is main subject of	CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Versus Juvenile Idiopathic Arthropathy Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review. [Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis syndrome: a case report] Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome.
is main subject of	wds:Q43967599-E761CB7F-C655-40A5-A5D1-DD1731D2686A wds:Q34464837-BE372BBF-8817-4009-93A8-B942612F705E wds:Q61855412-01D7D37B-6D74-45FF-A791-73DCA94B6620

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