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(Q55784729)
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English
combined immunodeficiency due to MALT1 deficiency
human disease
IMMUNODEFICIENCY 12
Immunodeficiency type 12
IMMUNODEFICIENCY 12; IMD12
IMD12
immunodeficiency 12
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default values for all languages
No label defined
No description defined
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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_0014197
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111988
combined immunodeficiency
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111988
genetic association
MALT1
2 references
stated in
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000172175/MONDO_0014197
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_397964
0 references
http://purl.obolibrary.org/obo/DOID_0111988
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111988
http://identifiers.org/doid/DOID:0111988
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111988
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111988
ICD-10-CM
D81.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014197
Mondo ID
MONDO_0014197
0 references
OMIM ID
615468
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014197
Orphanet ID
397964
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014197
UMLS CUI
C3809583
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014197
UniProt disease ID
DI-03911
0 references
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