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severe combined immunodeficiency due to CTPS1 deficiency
human disease
IMMUNODEFICIENCY 24; IMD24
Immunodeficiency type 24
SCID due to CTPS1 deficiency
IMD24
IMMUNODEFICIENCY 24
immunodeficiency 24
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
T+ B+ severe combined immunodeficiency
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014391
severe combined immunodeficiency
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111938
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111938
genetic association
CTPS1
2 references
stated in
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000171793/MONDO_0014391
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_420573
0 references
http://purl.obolibrary.org/obo/DOID_0111938
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111938
http://identifiers.org/doid/DOID:0111938
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111938
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111938
ICD-10-CM
D81.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014391
Mondo ID
MONDO_0014391
0 references
OMIM ID
615897
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014391
Orphanet ID
420573
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014391
UMLS CUI
C4014617
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014391
C4706524
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-04159
0 references
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Multilingual sites
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