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loading...| Preferred Name |
Congenital Metabolic Disorder |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C34816 |
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| code |
C34816 |
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| Contributing_Source |
NICHD |
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| 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. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Congenital Metabolic Disorder |
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| Legacy Concept Name |
Inborn_Errors_of_Metabolism |
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| Preferred_Name |
Congenital Metabolic Disorder |
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| prefixIRI |
NCIT:C34816 |
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| prefLabel |
Congenital Metabolic Disorder |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0025521 |
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| subClassOf |
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