loading...| Preferred Name | inherited amino acid metabolic disorder | |
| Synonyms |
inborn amino acid metabolism disorder amino acid metabolism, inborn errors amino acid metabolic disorder 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 |
|
| 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 |
|
| 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 |
|
| 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 | ||
| 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 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0004736 | CCONT | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | OBA | SAME_URI |