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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C129070
http://purl.obolibrary.org/obo/NCIT_C129070
|
|---|---|
| Preferred Name | Cystathioninuria |
| Definitions |
An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased concentrations of cystathionine in the plasma and urine.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased concentrations of cystathionine in the plasma and urine. |
|---|---|
| label |
Cystathioninuria
|
| prefLabel |
Cystathioninuria
|
| in_subset | |
| Preferred_Name |
Cystathioninuria
|
| UMLS_CUI |
C0220993
|
| prefixIRI |
NCIT:C129070
|
| Contributing_Source |
Cellosaurus
|
| subClassOf | |
| code |
C129070
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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