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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_C84765
http://purl.obolibrary.org/obo/NCIT_C84765
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|---|---|
| Preferred Name | Homocystinuria |
| Definitions |
An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. |
|---|---|
| label |
Homocystinuria
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| prefLabel |
Homocystinuria
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| in_subset | |
| Preferred_Name |
Homocystinuria
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| UMLS_CUI |
C3806789
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| prefixIRI |
NCIT:C84765
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| Contributing_Source |
Cellosaurus
NICHD
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| subClassOf | |
| code |
C84765
|
| type | |
| Semantic_Type |
Disease or Syndrome
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