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English
DOCK2 deficiency
human disease
Immunodeficiency type 40
IMMUNODEFICIENCY 40; IMD40
IMMUNODEFICIENCY 40
IMD40
immunodeficiency 40
In more languages
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
non-severe combined immunodeficiency
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014637
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
24 November 2020
Disease Ontology ID
DOID:0111951
combined immunodeficiency
1 reference
stated in
Disease Ontology
retrieved
24 November 2020
Disease Ontology ID
DOID:0111951
genetic association
DOCK2
2 references
stated in
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000134516/MONDO_0014637
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_447737
0 references
http://purl.obolibrary.org/obo/DOID_0111951
1 reference
stated in
Disease Ontology
retrieved
24 November 2020
Disease Ontology ID
DOID:0111951
http://identifiers.org/doid/DOID:0111951
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111951
1 reference
stated in
Disease Ontology
retrieved
24 November 2020
Disease Ontology ID
DOID:0111951
GARD rare disease ID
12653
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014637
ICD-10-CM
D81.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014637
Mondo ID
MONDO_0014637
0 references
OMIM ID
616433
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014637
Orphanet ID
447737
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014637
UMLS CUI
C4225328
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014637
UniProt disease ID
DI-04461
0 references
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