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loading...| Preferred Name |
Hyperlysinemia |
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| Synonyms |
Hyperlysinemia |
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| Definitions |
An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123433 |
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| code |
C123433 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| DEFINITION |
An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems. |
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| FULL_SYN |
Hyperlysinemia |
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| label |
Hyperlysinemia |
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| Preferred_Name |
Hyperlysinemia |
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| prefixIRI |
Thesaurus:C123433 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C3840920 |
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| subClassOf |
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