About: congenital myopathy

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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) Krankheit (de) malattia (it) մարդու հիվանդություն (hy) مَرَضٌ بَشَرِيٌّ (ar) フロッピーインファント症状を引き起こす疾患群 (ja) svalové onemocnění (cs) хвороба людини (uk)
exact match	wds:Q112412-5651DBCE-E735-4E25-AF40-7566D13EF561 wds:Q112412-57AA9DC3-71EA-4E8B-877B-F81CEE0B1313 wds:Q112412-8F765845-FCB6-4BEC-B6B6-D322D870D500
exact match	http://purl.obolibrary.org/obo/DOID_0080100 http://identifiers.org/doid/DOID:0080100 http://www.orpha.net/ORDO/Orphanet_97245
health specialty	wds:Q112412-560FEEAB-1E85-4D8D-B4E6-82975400EE4D
ICD-10	wds:q112412-7C673D5A-80B2-4BC4-A055-C486A2706753
Mondo ID	wds:Q112412-A19F1775-322F-43DA-A567-5536315DC01B
Disease Ontology ID	wds:Q112412-847A2F2B-BC16-4FBB-AE4C-6F9F86B54CAB
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0019952
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080100
health specialty	neurology
ICD-10	G71.2
Mondo ID	MONDO_0019952
Disease Ontology ID	DOID:0080100
rdfs:label	Kongenitale Myopathie (de) congenital myopathy (en) kongenitalna miopatija (sl) kongenitální myopatie (cs) miopatía congénita (es) myopathie congénitale (fr) Урођене миопатије (sr) اعتلال عضلي خلقي (ar) 先天性ミオパチー (ja) 先天性肌肉病变 (zh-cn) 先天性肌肉病变 (zh-sg) 先天性肌肉病变 (zh-hans) 先天性肌肉病變 (zh) 先天性肌肉病變 (zh-hk) 先天性肌肉病變 (zh-tw) 先天性肌肉病變 (zh-hant)
skos:prefLabel	Kongenitale Myopathie (de) congenital myopathy (en) kongenitalna miopatija (sl) kongenitální myopatie (cs) miopatía congénita (es) myopathie congénitale (fr) Урођене миопатије (sr) اعتلال عضلي خلقي (ar) 先天性ミオパチー (ja) 先天性肌肉病变 (zh-cn) 先天性肌肉病变 (zh-sg) 先天性肌肉病变 (zh-hans) 先天性肌肉病變 (zh) 先天性肌肉病變 (zh-hk) 先天性肌肉病變 (zh-tw) 先天性肌肉病變 (zh-hant)
name	Kongenitale Myopathie (de) congenital myopathy (en) kongenitalna miopatija (sl) kongenitální myopatie (cs) miopatía congénita (es) myopathie congénitale (fr) Урођене миопатије (sr) اعتلال عضلي خلقي (ar) 先天性ミオパチー (ja) 先天性肌肉病变 (zh-cn) 先天性肌肉病变 (zh-sg) 先天性肌肉病变 (zh-hans) 先天性肌肉病變 (zh) 先天性肌肉病變 (zh-hk) 先天性肌肉病變 (zh-tw) 先天性肌肉病變 (zh-hant)
instance of	wds:Q112412-77DC5F34-21E4-4572-BFFB-7CAB99939590 wds:Q112412-B8498B89-76E0-4A6A-B308-11552D34D434
instance of	class of disease designated intractable/rare disease
subclass of	wds:Q112412-35f45cfd-43ce-842c-13ac-8b35c1162de8 wds:Q112412-975f2240-4219-bd43-19f2-9c1f48d73e1d
subclass of	muscular disease congenital abnormality
eMedicine ID	wds:q112412-8579AFCA-6BE3-49D3-8A18-37930957B0FC
eMedicine ID	1175852
KEGG ID	wds:Q112412-45FCC0A3-5024-4DE0-8E5B-6A4532FAD7FE
KEGG ID	http://www.kegg.jp/entry/H01810
KEGG ID	H01810
Orphanet ID	wds:Q112412-E2706330-0E4B-4031-9657-D5817C203E28
genetic association	wds:Q112412-58ECF021-CF1B-40D2-A278-87C5A3843FCD
ICD-10-CM	wds:Q112412-ABE0A2B0-4562-4F23-A4DB-62D0891FEF1A
GARD rare disease ID	wds:Q112412-12E4A5B1-091D-48F7-98BE-8FF6DB1D1A7C
OMIM ID	wds:Q112412-002926D3-384B-40E9-96DB-5F1C9EF99A58
Orphanet ID	97245
genetic association	HACD1
ICD-10-CM	G71.2
GARD rare disease ID	5898
OMIM ID	255300
ICD-9 ID	wds:q112412-770D138B-371A-468E-8E05-9DA932F20522
ICD-9 ID	359.0
skos:altLabel	Congenital myopathy (en) miopatia congenita (es)

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