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galactose-1-phosphate uridylyltransferase deficiency
human disease
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
GALT deficiency
classic galactosemia
transferase deficiency galactosemia
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No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
galactosemia
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111459
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111459
health specialty
endocrinology
0 references
NCI Thesaurus ID
C81325
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0111459
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111459
http://identifiers.org/doid/DOID:0111459
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
KEGG ID
H02008
0 references
Disease Ontology ID
DOID:0111459
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111459
DiseasesDB
5056
1 reference
imported from Wikimedia project
English Wikipedia
eMedicine ID
944069
1 reference
imported from Wikimedia project
English Wikipedia
GARD rare disease ID
13639
0 references
ICD-10 ID
E74.2
1 reference
imported from Wikimedia project
English Wikipedia
ICD-11 ID (Foundation)
2011000259
0 references
ICD-11 ID (MMS)
5C51.40
subject named as
Galactose-1-phosphate uridyltransferase deficiency
0 references
ICD-9 ID
271.1
1 reference
imported from Wikimedia project
English Wikipedia
Medical Dictionary for Regulatory Activities ID
10017604
1 reference
reference URL
https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx
based on heuristic
inferred by common ICD-10 mappings on Wikidata and on source
Microsoft Academic ID
2779892345
0 references
OMIM ID
230400
1 reference
imported from Wikimedia project
English Wikipedia
Orphanet ID
79239
0 references
UMLS CUI
C0268151
0 references
UniProt disease ID
DI-01642
0 references
WikiProjectMed ID
Galactose-1-phosphate uridylyltransferase deficiency
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
Galactose-1-phosphate uridylyltransferase deficiency
Wikibooks
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Wikinews
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Wikiquote
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Wikisource
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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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