loading...| Preferred Name |
Menkes Disease |
|
| Synonyms |
Kinky Hair Syndrome Menkes Kinky-Hair Syndrome Menkes Kinky Hair Syndrome 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75486 |
|
| code |
C75486 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| 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. |
|
| FULL_SYN |
Kinky Hair Syndrome Menkes Kinky-Hair Syndrome Menkes Kinky Hair Syndrome Menkes Disease |
|
| label |
Menkes Disease |
|
| Legacy Concept Name |
Menkes_Disease |
|
| Preferred_Name |
Menkes Disease |
|
| prefixIRI |
Thesaurus:C75486 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0022716 |
|
| subClassOf |