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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_C75486
http://purl.obolibrary.org/obo/NCIT_C75486
|
|---|---|
| Preferred Name | Menkes Disease |
| Definitions |
An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair. |
|---|---|
| label |
Menkes Disease
|
| prefLabel |
Menkes Disease
|
| Legacy Concept Name |
Menkes_Disease
|
| in_subset | |
| Preferred_Name |
Menkes Disease
|
| UMLS_CUI |
C0022716
|
| prefixIRI |
NCIT:C75486
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| Contributing_Source |
Cellosaurus
NICHD
|
| subClassOf | |
| code |
C75486
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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