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citrin deficiency
No description defined
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No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
citrullinemia
0 references
genetic association
SLC25A13
1 reference
stated in
ClinGen
retrieved
25 January 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bc373b9e-ec5e-4471-92a1-bbdd9aa3378c-2021-07-23T220742.579Z
exact match
http://www.orpha.net/ORDO/Orphanet_247582
0 references
Identifiers
ICD-10-CM
E72.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016602
ICD-11 ID (Foundation)
348535193
0 references
Mondo ID
MONDO_0016602
0 references
Orphanet ID
247582
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016602
UMLS CUI
C1863844
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016602
C1997910
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0016602
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