loading...| Preferred Name |
inborn disorder of amino acid metabolism |
| Synonyms |
inborn amino acid metabolism disorder inborn cellular amino acid metabolic process disorder inborn error of amino acid metabolism amino acid metabolism, inborn errors inborn error of cellular amino acid metabolic process amino acid metabolic disorder inborn errors of amino acid metabolism rare inborn error of cellular amino acid metabolic process inherited 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 |
| database_cross_reference |
SCTID:44779003 GARD:0006770 ICD9:270.9 SCTID:42930003 ICD9:270 MESH:D000592 DOID:9252 |
| definition |
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_9252 |
| has_exact_synonym |
inborn cellular amino acid metabolic process disorder inborn error of amino acid metabolism inborn error of cellular amino acid metabolic process inborn errors of amino acid metabolism rare inborn error of cellular amino acid metabolic process inherited amino acid metabolic disorder |
| has_related_synonym |
inborn amino acid metabolism disorder amino acid metabolism, inborn errors amino acid metabolic disorder |
| id |
MONDO:0004736 |
| label |
inborn disorder of amino acid metabolism |
| notation |
MONDO:0004736 |
| prefLabel |
inborn disorder of amino acid metabolism |
| treeView | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0004736 | Experimental Factor Ontology / 实验性因素本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | Experimental Factor Ontology / 实验性因素本体 | SAME_URI |