Chediak-Higashi syndrome English (Q934034)
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rare autosomal recessive disorder related to lysossomal function and the CHS1 gene English
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Chediak-Higashi syndrome |
rare autosomal recessive disorder related to lysossomal function and the CHS1 gene |
|
Statements
instance of English
subclass of English
autosomal recessive disease English
1 reference
stated in English
Disease Ontology English
retrieved English
29 November 2020
Disease Ontology ID English
eye degenerative disease English
syndrome English
1 reference
stated in English
Disease Ontology English
retrieved English
29 November 2020
Disease Ontology ID English
named after English
health specialty English
genetic association English
LYST 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
stated in English
Open Targets Platform English
retrieved English
24 August 2023
NCI Thesaurus ID English
C2941
mapping relation type English
exact match English
2 references
stated in English
Disease Ontology English
retrieved English
11 July 2018
Disease Ontology ID English
C2941
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
exact match English
1 reference
stated in English
Disease Ontology English
retrieved English
29 November 2020
Disease Ontology ID English
1 reference
stated in English
Identifiers.org English
Commons category English
Chediak-Higashi syndrome
0 references
Identifiers
MeSH descriptor ID English
mapping relation type English
exact match English
subject named as English
Chediak-Higashi Syndrome
MeSH tree code English
MedlinePlus ID English
PatientsLikeMe condition ID English
Disease Ontology ID English
1 reference
stated in English
Disease Ontology English
retrieved English
29 November 2020
Disease Ontology ID English
DiseasesDB English
eMedicine ID 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-CM English
2 references
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
2 references
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
ICD-11 ID (Foundation) English
ICD-9 ID English
Microsoft Academic ID English
Mondo ID English
OMIM ID English
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
OpenAlex ID English
1 reference
retrieved English
26 January 2022
Orphanet ID English
1 reference
stated in English
Disease Ontology English
retrieved English
15 May 2019
Disease Ontology ID English
Patientplus ID English
1 reference
UMLS CUI 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
WikiSkripta article ID English
Sitelinks
Wikipedia(14 entries)
- arwiki متلازمة شدياق-هيغاشي
- cswiki Chediakův–Higashiho syndrom
- dewiki Chediak-Higashi-Syndrom
- enwiki Chédiak–Higashi syndrome
- eswiki Síndrome de Chédiak-Higashi
- fiwiki Chédiak–Higashin oireyhtymä
- frwiki Syndrome de Chediak-Higashi
- itwiki Sindrome di Chédiak-Higashi
- jawiki チェディアック・東症候群
- kkwiki Чедиаки-Хигаси синдромы
- kowiki 체디아크-히가시 증후군
- plwiki Zespół Chediaka-Higashiego
- ptwiki Síndrome de Chediak-Higashi
- slwiki Chédiak-Higashijev sindrom
Wikibooks(0 entries)
Wikinews(0 entries)
Wikiquote(0 entries)
Wikisource(0 entries)
Wikiversity(0 entries)
Wikivoyage(0 entries)
Wiktionary(0 entries)
Other sites(1 entry)
- commonswiki Category:Chediak-Higashi syndrome