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(Q55781684)
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English
immunodeficiency 27A
human disease
Immunodeficiency type 27A
Ifngr1 Deficiency, Autosomal Recessive
IMD27A
IMMUNODEFICIENCY 27A; IMD27A
Immunodeficiency 27A, Mycobacteriosis, Autosomal Recessive
IMMUNODEFICIENCY 27A
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111955
primary immunodeficiency disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111955
genetic association
IFNGR1
2 references
stated in
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection
stated in
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
NCI Thesaurus ID
C176601
0 references
exact match
http://www.orpha.net/ORDO/Orphanet_319569
0 references
http://www.orpha.net/ORDO/Orphanet_99898
0 references
http://purl.obolibrary.org/obo/DOID_0111955
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111955
http://identifiers.org/doid/DOID:0111955
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111955
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111955
Mondo ID
MONDO_0008856
0 references
OMIM ID
209950
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008856
UMLS CUI
C1859527
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008856
C3266863
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008856
C1859529
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008856
C1859528
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008856
C0694566
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008856
UniProt disease ID
DI-01964
0 references
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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