Canavan disease English (Q2349546)
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neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay English
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Canavan disease |
neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay |
|
Statements
instance of English
1 reference
retrieved English
17 May 2019
subclass of English
leukodystrophy English
1 reference
stated in English
Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
neurometabolic disease English
rare genetic epilepsy English
inborn aminoacylase deficiency English
autosomal recessive disease English
1 reference
stated in English
Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
named after English
health specialty English
genetic association English
ASPA English
5 references
UniProt protein ID English
retrieved English
13 August 2019
retrieved English
8 December 2020
retrieved English
25 January 2022
stated in English
Open Targets Platform English
retrieved English
24 August 2023
external data available at URL English
NCI Thesaurus ID English
C84611
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
exact match English
1 reference
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Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
1 reference
stated in English
Identifiers.org English
Identifiers
MeSH descriptor ID English
mapping relation type English
exact match English
subject named as English
Canavan Disease
MeSH tree code English
MedlinePlus ID English
Disease Ontology ID English
1 reference
stated in English
Disease Ontology English
retrieved English
30 November 2020
Disease Ontology ID English
DiseasesDB English
Freebase ID English
1 reference
stated in English
Freebase Data Dumps English
publication date English
28 October 2013
GARD rare disease ID English
2 references
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
ICD-10 ID English
ICD-11 ID (Foundation) English
ICD-9 ID English
JSTOR topic ID (archived) English
Microsoft Academic ID English
Mondo ID English
OMIM ID English
1 reference
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Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
Orphanet ID English
mapping relation type English
exact match English
UMLS CUI English
mapping relation type English
close match English
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
UniProt disease ID English
WikiProjectMed ID English
Sitelinks
Wikipedia(26 entries)
- arwiki داء كانافان
- bswiki Canavanova bolest
- cawiki Malaltia de Canavan
- cswiki Nemoc Canavanové
- dewiki Morbus Canavan
- enwiki Canavan disease
- eswiki Enfermedad de Canavan
- fawiki بیماری کاناوان
- fiwiki Canavanin tauti
- frwiki Maladie de Canavan
- glwiki Doenza de Canavan
- hewiki מחלת קנוואן
- huwiki Canavan-betegség
- hywiki Կենևենի հիվանդություն
- itwiki Sindrome di Canavan
- kowiki 카나반 병
- lvwiki Kanavana slimība
- mkwiki Канаванова болест
- plwiki Choroba Canavan
- ptwiki Doença de Canavan
- ruwiki Болезнь Канаван
- skwiki Canavanovej choroba
- srwiki Канаванова болест
- svwiki Canavans sjukdom
- ukwiki Хвороба Канавана
- uzwiki Kanavan kasalligi