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(Q65066312)
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English
MPI-CDG
medical condition
congenital disorder of glycosylation Ib
congenital disorder of glycosylation 1b
Phosphomannose isomerase deficiency
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default values for all languages
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:0080554
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080554
symptoms and signs
bleeding
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080554
vomiting
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080554
genetic association
MPI
1 reference
stated in
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0080554
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080554
http://identifiers.org/doid/DOID:0080554
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0080554
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0080554
GARD rare disease ID
9830
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080554
Google Knowledge Graph ID
/g/11h18z5xg2
0 references
ICD-11 (foundation)
803079134
0 references
OMIM ID
602579
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080554
Orphanet ID
79319
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0080554
UMLS CUI
C1865145
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-00334
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
MPI-CDG
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Wikisource
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Wikiversity
(0 entries)
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Wikivoyage
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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