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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_C34816
http://purl.obolibrary.org/obo/NCIT_C34816
|
|---|---|
| Preferred Name | Congenital Metabolic Disorder |
| Definitions |
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body.
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. |
|---|---|
| label |
Congenital Metabolic Disorder
|
| prefLabel |
Congenital Metabolic Disorder
|
| Legacy Concept Name |
Inborn_Errors_of_Metabolism
|
| in_subset | |
| Preferred_Name |
Congenital Metabolic Disorder
|
| UMLS_CUI |
C0025521
|
| prefixIRI |
NCIT:C34816
|
| Contributing_Source |
NICHD
|
| subClassOf | |
| code |
C34816
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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