loading...| Preferred Name | inborn disorder of amino acid metabolism | |
| 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 inherited amino acid metabolic disorder 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 |
|
| altLabel |
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 inherited amino acid metabolic disorder inborn error of amino acid metabolism inborn errors of amino acid metabolism inborn cellular amino acid metabolic process disorder |
|
| definition |
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. |
|
| has_exact_synonym |
inborn error of cellular amino acid metabolic process rare inborn error of cellular amino acid metabolic process inherited amino acid metabolic disorder 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 |
|
| label |
inborn disorder of amino acid metabolism |
|
| prefixIRI |
MONDO:0004736 |
|
| prefLabel |
inborn disorder of amino acid metabolism |
|
| textual definition |
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. |
|
| subClassOf |
| 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 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | OBA | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | CCONT | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | OBA | LOOM |