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(Q66299844)
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English
congenital disorder of glycosylation Ip
human disease
congenital disorder of glycosylation 1p
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No label defined
No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
congenital disorder of glycosylation type I
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080567
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080567
symptoms and signs
vomiting
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080567
bleeding
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080567
genetic association
ALG11
1 reference
stated in
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080567
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080567
http://identifiers.org/doid/DOID:0080567
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0080567
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080567
GARD rare disease ID
12396
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080567
ICD-11 ID (Foundation)
1085343875
0 references
OMIM ID
613661
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080567
Orphanet ID
280071
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080567
UMLS CUI
C3150913
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-02950
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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