Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
hereditary sensory and autonomic neuropathy
|
| gptkbp:alsoKnownAs |
Hereditary sensory neuropathy type II
|
| gptkbp:category |
genetic disorder
neurological disorder |
| gptkbp:diagnosedBy |
genetic testing
nerve conduction studies |
| https://www.w3.org/2000/01/rdf-schema#label |
HSAN type II
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
WNK1 gene
FAM134B gene |
| gptkbp:OMIM |
201300
|
| gptkbp:onset |
infancy or early childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
recurrent infections
loss of pain sensation acral mutilation ulceration of hands and feet |
| gptkbp:treatment |
supportive care
prevention of injury |
| gptkbp:bfsParent |
gptkb:Hereditary_sensory_and_autonomic_neuropathies
gptkb:hereditary_sensory_and_autonomic_neuropathy |
| gptkbp:bfsLayer |
8
|