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(Q3508606)
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type I Ehlers-Danlos syndrome
Human disease
Ehlers-Danlos syndrome, type 1
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome type I
EDS I
Ehlers-Danlos syndrome, type 1 (disorder)
In more languages
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019567
class of disease
0 references
subclass of
Ehlers-Danlos syndrome
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14720
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14720
genetic association
COL5A1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000130635/MONDO_0019567
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
NCI Thesaurus ID
C125696
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14720
exact match
http://purl.obolibrary.org/obo/DOID_14720
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14720
http://identifiers.org/doid/DOID:14720
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_90309
0 references
Identifiers
MeSH descriptor ID
C536194
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
Mondo ID
MONDO_0019567
retrieved
28 July 2018
C536194
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14720
Disease Ontology ID
DOID:14720
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:14720
Google Knowledge Graph ID
/g/122v8ndf
0 references
ICD-10-CM
Q79.6
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019567
ICD-11 (foundation)
1999142975
0 references
Mondo ID
MONDO_0019567
0 references
OMIM ID
130000
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14720
Orphanet ID
287
0 references
90309
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019567
UMLS CUI
C0268335
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14720
C4225429
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-00436
0 references
Sitelinks
Wikipedia
(1 entry)
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frwiki
Syndrome d'Ehlers-Danlos type classique
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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