loading...| Preferred Name |
inborn aminoacid metabolism disorder |
|
| Synonyms |
inborn aminoacidopathy cystathionase deficiency |
|
| Definitions |
disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-0342 |
|
| altLabel |
inborn aminoacidopathy hyperlysinemia cystathioninuria homoserine deaminase deficiency lysinemia inborn aminoaciduria cystathionase deficiency |
|
| cui |
C0596875 C0598674 C0268553 C0598675 C0268616 C0220993 C0002514 C3495552 |
|
| definition |
disorders affecting amino acid metabolism; majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (for example, acidosis) and neurologic manifestations; present at birth, although they may not become symptomatic until later in life. |
|
| DID |
1849-0342 |
|
| Inverse of RB | ||
| Inverse of RN |
http://purl.bioontology.org/ontology/CSP/1849-1177 http://purl.bioontology.org/ontology/CSP/1849-2146 http://purl.bioontology.org/ontology/CSP/1849-1462 http://purl.bioontology.org/ontology/CSP/1849-1291 http://purl.bioontology.org/ontology/CSP/1849-0835 http://purl.bioontology.org/ontology/CSP/1849-0949 http://purl.bioontology.org/ontology/CSP/1849-0778 http://purl.bioontology.org/ontology/CSP/1849-0607 http://purl.bioontology.org/ontology/CSP/1849-1120 http://purl.bioontology.org/ontology/CSP/1849-1063 http://purl.bioontology.org/ontology/CSP/1849-1234 http://purl.bioontology.org/ontology/CSP/1849-9321 http://purl.bioontology.org/ontology/CSP/1849-0399 |
|
| notation |
1849-0342 |
|
| prefLabel |
inborn aminoacid metabolism disorder |
|
| tui |
T047 |
|
| subClassOf |