Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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Preferred Name

inherited amino acid metabolic disorder
Synonyms

inborn error of cellular amino acid metabolic process

rare inborn error of cellular amino acid metabolic process

inborn error of amino acid metabolism

inborn errors of amino acid metabolism

inborn cellular amino acid metabolic process disorder

inborn amino acid metabolism disorder

amino acid metabolism, inborn errors

amino acid metabolic disorder
Definitions

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
ID

http://purl.obolibrary.org/obo/MONDO_0004736
closeMatch

http://identifiers.org/snomedct/190680002

http://identifiers.org/snomedct/154734005

http://identifiers.org/snomedct/267496003

http://linkedlifedata.com/resource/umls/id/C0002514

http://identifiers.org/snomedct/190740001
conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml
database_cross_reference

ICD10:E72.9

ICD9:270.9

ICD9:270

SCTID:42930003

DOID:9252

GARD:0006770

MESH:D000592
exactMatch

http://identifiers.org/snomedct/42930003

http://identifiers.org/mesh/D000592

http://purl.obolibrary.org/obo/DOID_9252
has exact synonym

inborn error of cellular amino acid metabolic process

rare inborn error of cellular amino acid metabolic process

inborn error of amino acid metabolism

inborn errors of amino acid metabolism

inborn cellular amino acid metabolic process disorder
has related synonym

inborn amino acid metabolism disorder

amino acid metabolism, inborn errors

amino acid metabolic disorder
id

MONDO:0004736
imported from

http://purl.obolibrary.org/obo/mondo.owl
label

inherited amino acid metabolic disorder
notation

MONDO:0004736
prefLabel

inherited amino acid metabolic disorder
textual definition

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0000688

http://purl.obolibrary.org/obo/MONDO_0019052

http://purl.obolibrary.org/obo/MONDO_0037871
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