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alpha-aminoadipic and alpha-ketoadipic aciduria
human disease
2-aminoadipic 2-oxoadipic aciduria
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
Alpha-aminoadipic aciduria
AMOXAD
In more languages
default 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
Ketoadipicaciduria
0 references
disorder of lysine and hydroxylysine metabolism
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008774
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111453
amino acid metabolic disorder
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111453
genetic association
DHTKD1
4 references
stated in
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria
stated in
ClinGen
retrieved
8 December 2020
reference URL
https://search.clinicalgenome.org/kb/gene-validity/d6dd5de3-9819-432d-996c-12a66dff277f--2020-11-03T19:38:15
stated in
ClinGen
retrieved
25 January 2022
reference URL
https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d6dd5de3-9819-432d-996c-12a66dff277f-2020-11-03T193815.515Z
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000181192/MONDO_0008774
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_79154
0 references
http://purl.obolibrary.org/obo/DOID_0111453
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111453
http://identifiers.org/doid/DOID:0111453
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0111453
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111453
Google Knowledge Graph ID
/g/11bvtqxrcx
0 references
ICD-10-CM
E72.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008774
Mondo ID
MONDO_0008774
0 references
OMIM ID
204750
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008774
Orphanet ID
79154
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008774
UMLS CUI
C1859817
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008774
UniProt disease ID
DI-03673
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
Alpha-aminoadipic and alpha-ketoadipic aciduria
Wikibooks
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Wikiquote
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Wikisource
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Wikiversity
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