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complement component 9 deficiency
Human disease
C9D
C9 Deficiency
COMPLEMENT COMPONENT 9 DEFICIENCY; C9D
COMPLEMENT COMPONENT 9 DEFICIENCY
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
complement deficiency
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060303
genetic association
C9
3 references
stated in
UniProt
UniProt protein ID
P02748
retrieved
13 August 2019
stated in
The human complement C9 gene: identification of two mutations causing deficiency and revision of the gene structure
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000113600/Orphanet_169150
based on heuristic
inferred from an Open Targets association score over 0.7
C6
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000039537/Orphanet_169150
based on heuristic
inferred from an Open Targets association score over 0.7
C7
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000112936/Orphanet_169150
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060303
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060303
http://identifiers.org/doid/DOID:0060303
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_169150
0 references
Identifiers
MeSH descriptor ID
C565165
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013445
Disease Ontology ID
DOID:0060303
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060303
ICD-10-CM
D84.1
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060303
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013445
ICD-11 (foundation)
446269999
0 references
Mondo ID
MONDO_0013445
0 references
OMIM ID
613825
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060303
613825
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013445
Orphanet ID
169150
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060303
UMLS CUI
C3151189
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013445
C0398765
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-01383
0 references
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Wikinews
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Wikiquote
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
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Wiktionary
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Multilingual sites
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