About: multiple carboxylase deficiency

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: multiple carboxylase deficiency 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
owl:sameAs	multiple carboxylase deficiency
description	human disease (en) malattia (it) մարդու հիվանդություն (hy) хвороба людини (uk) angeborene Stoffwechselstörung mit Mangel an Carboxylasen (de)
exact match	wds:Q6934914-450DD18B-E5A2-462E-87D5-DFD9316C68EA wds:Q6934914-6DABEA91-3C90-45B7-8960-D4765ADF7C3A wds:Q6934914-F0222490-296C-48B9-A102-59F28B32D3A2
exact match	http://www.orpha.net/ORDO/Orphanet_148 http://purl.obolibrary.org/obo/DOID_857 http://identifiers.org/doid/DOID:857
health specialty	wds:Q6934914-420323D3-CDF1-4596-A567-2101B1961BBF wds:Q6934914-9149FF07-D2DB-4F39-8028-CA2923FDC227
Mondo ID	wds:Q6934914-4E7B2FA2-BBB9-43F9-9AFA-5561B3D4F470
Disease Ontology ID	wds:Q6934914-3554D1E7-B097-4E67-9BD9-371961247728
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0015454
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:857
health specialty	endocrinology medical genetics
Mondo ID	MONDO_0015454
Disease Ontology ID	DOID:857
rdfs:label	Multipler Carboxylase-Mangel (de) déficit multiple en carboxylases (fr) multiple carboxylase deficiency (en) multiplo pomanjkanje karboksilaz (sl) 多重羧化酶缺乏症 (zh) 複合カルボキシラーゼ欠損症 (ja)
skos:prefLabel	Multipler Carboxylase-Mangel (de) déficit multiple en carboxylases (fr) multiple carboxylase deficiency (en) multiplo pomanjkanje karboksilaz (sl) 多重羧化酶缺乏症 (zh) 複合カルボキシラーゼ欠損症 (ja)
name	Multipler Carboxylase-Mangel (de) déficit multiple en carboxylases (fr) multiple carboxylase deficiency (en) multiplo pomanjkanje karboksilaz (sl) 多重羧化酶缺乏症 (zh) 複合カルボキシラーゼ欠損症 (ja)
instance of	wds:Q6934914-C5215963-21B4-44FA-A799-9B343756392E wds:Q6934914-EDD45F1B-E7EC-4D75-9465-C6C1ED6779BA
instance of	class of disease designated intractable/rare disease
subclass of	wds:Q6934914-03492B94-5620-4A02-9BAE-EBAF1AB605B7 wds:Q6934914-07CA71EE-2FAE-48AA-A2BA-2D35097E8457 wds:Q6934914-0AF2787B-7BDB-4F64-8300-97ABE6A621BF wds:Q6934914-A7267127-7742-4661-BF3F-4798D38F0CF0 wds:Q6934914-E1A1BC06-82C2-44E2-84EB-1AFB5EDBE381
subclass of	carbohydrate metabolic disorder amino acid metabolic disorder classic organic aciduria vitamin metabolic disorder other metabolic disease with skin involvement
Orphanet ID	wds:Q6934914-4CA62CE6-EBBB-4C81-B912-158B8CEA8936
ICD-10-CM	wds:Q6934914-1CEC061E-14C2-435D-9716-C3F5F540B33D wds:Q6934914-ABD9CFEC-C9F6-49CF-9BB8-B05EAE8549BB wds:Q6934914-DFED96C5-350E-42D1-8404-1AFA36022C6E
GARD rare disease ID	wds:Q6934914-47DB900F-EBB0-4454-AA0E-A3D1ACF3491E
Orphanet ID	148
ICD-10-CM	E53.8 D81.81 D81.819
GARD rare disease ID	3824
skos:altLabel	MCD (en)
external data available at URL	wds:Q6934914-CCFC1091-7F0D-444B-BA1E-BF1058B765D1
UMLS CUI	wds:Q6934914-6943599D-F5B8-4D06-9F71-53EE2ED02C8A
MeSH descriptor ID	wds:Q6934914-C8067967-1EA8-4E43-8FAF-6D5E6924C454
on focus list of Wikimedia project	wds:Q6934914-7149B3AC-BB08-4A21-8873-5FA9018E9995
Microsoft Academic ID	wds:Q6934914-80CA0E7E-0900-4748-8165-7F5DEAFC5F6E
MeSH tree code	wds:Q6934914-AACBF10F-E6AC-4DEC-8057-E4F11024DDD3 wds:Q6934914-BD06F94E-7098-4F19-A339-A8C6017DAE98 wds:Q6934914-C7232AEE-D179-4D84-99DC-F2BA092F02D3 wds:Q6934914-F0FF068F-8D66-4743-8BDA-7D36CC8D54A5
ICD-11 (foundation)	wds:Q6934914-75C71956-573F-4ECB-874D-E855C2963B18
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D009100
Microsoft Academic ID	https://makg.org/entity/2777723940
MeSH tree code	http://id.nlm.nih.gov/mesh/C16.320.565.100.620 http://id.nlm.nih.gov/mesh/C16.320.565.202.720 http://id.nlm.nih.gov/mesh/C18.452.648.100.620 http://id.nlm.nih.gov/mesh/C18.452.648.202.720
external data available at URL	http://www.nanbyou.or.jp/entry/4825
UMLS CUI	C0026755
MeSH descriptor ID	D009100
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2777723940
MeSH tree code	C16.320.565.100.620 C16.320.565.202.720 C18.452.648.100.620 C18.452.648.202.720
ICD-11 (foundation)	1133091451
WikiProjectMed ID	wds:Q6934914-ED1BB9C5-7876-46EC-B365-6B42613D1E01
WikiProjectMed ID	Multiple carboxylase deficiency
SNOMED CT ID	wds:Q6934914-72DE4C4D-220A-4DAA-BCFC-5BE62AF9B9DB
SNOMED CT ID	http://snomed.info/id/62151000119109
SNOMED CT ID	62151000119109
is owl:sameAs of	multiple carboxylase deficiency
is about of	multiple carboxylase deficiency https://www.wikidata.org/wiki/Special:EntityData/Q6934914

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 180 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software