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loading...| Preferred Name | Hepatolenticular Degeneration | |
| Synonyms |
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| Definitions |
A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84756 |
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| code |
C84756 |
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| Contributing_Source |
Cellosaurus CCPS |
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| definition |
A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C177516 |
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| label |
Hepatolenticular Degeneration |
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| Preferred_Name |
Hepatolenticular Degeneration |
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| prefixIRI |
NCIT:C84756 |
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| prefLabel |
Hepatolenticular Degeneration |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0019202 |
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| subClassOf |
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