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loading...| Preferred Name |
Hartnup Disease |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84748 |
| code |
C84748 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD Cellosaurus |
| DEFINITION |
An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia. |
| FULL_SYN |
Hartnup Disease |
| label |
Hartnup Disease |
| Preferred_Name |
Hartnup Disease |
| prefixIRI |
Thesaurus:C84748 |
| prefLabel |
Hartnup Disease |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0018609 |
| subClassOf |
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