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(Q4682317)
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English
adenylosuccinase lyase deficiency
a rare autosomal recessive metabolic disorder
Adenylosuccinase deficiency
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
amino acid metabolic disorder
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0050762
autosomal recessive
0 references
genetic association
ADSL
1 reference
stated in
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0050762
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0050762
http://identifiers.org/doid/DOID:0050762
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
MeSH descriptor ID
C538235
0 references
KEGG ID
H00197
0 references
Disease Ontology ID
DOID:0050762
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0050762
DiseasesDB
33422
1 reference
imported from Wikimedia project
English Wikipedia
GARD rare disease ID
550
1 reference
stated in
Disease Ontology
retrieved
7 August 2019
Disease Ontology ID
DOID:0050762
Genetics Home Reference Conditions ID
adenylosuccinate-lyase-deficiency
0 references
ICD-10
E79.8
0 references
Microsoft Academic ID
2778210730
0 references
Mondo ID
MONDO_0000443
0 references
OMIM ID
103050
2 references
imported from Wikimedia project
English Wikipedia
stated in
Disease Ontology
retrieved
7 August 2019
Disease Ontology ID
DOID:0050762
Orphanet ID
46
0 references
UMLS CUI
C0268126
1 reference
based on heuristic
inferred by common MeSH mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
25 May 2023
UniProt disease ID
DI-00040
0 references
WikiProjectMed ID
Adenylosuccinate lyase deficiency
0 references
Adenylosuccinate lyase deficiency
0 references
Sitelinks
Wikipedia
(3 entries)
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arwiki
نقص إنزيم لياز الأدينيلوسكسينات
enwiki
Adenylosuccinate lyase deficiency
eswiki
Deficiencia de adenilosuccinato liasa
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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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