loading...| Preferred Name | inborn disorder of amino acid metabolism | |
| Synonyms |
amino acid metabolism, inborn errors amino acid metabolic disorder inborn amino acid metabolism disorder rare inborn error of cellular amino acid metabolic process inborn cellular amino acid metabolic process disorder inborn errors of amino acid metabolism inborn error of cellular amino acid metabolic process inherited amino acid metabolic disorder inborn error of amino acid metabolism |
|
| 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 |
NCIT:C97090 MEDGEN:1867 MESH:D000592 UMLS:C0002514 SCTID:42930003 DOID:9252 GARD:6770 ICD9:270 ICD9:270.9 |
|
| definition |
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. |
|
| has_exact_synonym |
rare inborn error of cellular amino acid metabolic process inborn cellular amino acid metabolic process disorder inborn errors of amino acid metabolism inborn error of cellular amino acid metabolic process inherited amino acid metabolic disorder inborn error of amino acid metabolism |
|
| has_related_synonym |
amino acid metabolism, inborn errors amino acid metabolic disorder inborn amino acid metabolism disorder |
|
| id |
MONDO:0004736 |
|
| in_subset | ||
| label |
inborn disorder of amino acid metabolism |
|
| notation |
MONDO:0004736 |
|
| preferred label |
inborn disorder of amino acid metabolism |
|
| prefLabel |
inborn disorder of amino acid metabolism |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C97090 http://linkedlifedata.com/resource/umls/id/C0002514 http://identifiers.org/snomedct/42930003 http://identifiers.org/mesh/D000592 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| 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 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | OBA | SAME_URI | |
| 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 | DOVES | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0004736 | OBA | LOOM |