Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary sensory and autonomic neuropathy |
| gptkbp:alsoKnownAs |
Hereditary Sensory and Autonomic Neuropathy type V
Congenital insensitivity to pain with partial anhidrosis |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:differentialDiagnosis |
gptkb:HSAN_type_IV
congenital insensitivity to pain without anhidrosis |
| gptkbp:firstDescribed |
2004
|
| https://www.w3.org/2000/01/rdf-schema#label |
HSAN type V
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
NGF gene
|
| gptkbp:OMIM |
608654
|
| gptkbp:onset |
congenital
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
insensitivity to pain
bone fractures ulcerations partial anhidrosis recurrent injuries |
| gptkbp:treatment |
supportive care
injury prevention |
| gptkbp:bfsParent |
gptkb:Hereditary_sensory_and_autonomic_neuropathies
gptkb:hereditary_sensory_and_autonomic_neuropathy |
| gptkbp:bfsLayer |
8
|