Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skin
gptkb:skeletal_muscle gptkb:nervous_system bones hair arteries copper levels in the body |
| gptkbp:alsoKnownAs |
gptkb:Menkes_disease
kinky hair disease |
| gptkbp:diagnosedBy |
genetic testing
serum copper and ceruloplasmin levels |
| gptkbp:firstDescribed |
gptkb:John_Hans_Menkes
1962 |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Menkes syndrome
|
| gptkbp:ICD-10_code |
E83.0
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ATP7A_gene
|
| gptkbp:namedAfter |
gptkb:John_Hans_Menkes
|
| gptkbp:OMIM |
309400
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
intellectual disability seizures failure to thrive developmental delay brittle hair sagging facial features |
| gptkbp:treatment |
copper histidinate injections
|
| gptkbp:bfsParent |
gptkb:Menkes_disease
|
| gptkbp:bfsLayer |
8
|