Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
horses
Arabian horses |
| gptkbp:alsoKnownAs |
gptkb:Coat_Color_Dilution_Lethal_(CCDL)
|
| gptkbp:category |
gptkb:hereditary_disease
equine disease |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1990s
|
| gptkbp:furColor |
lavender or pale coat
|
| gptkbp:gene |
gptkb:MYO5A
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:lethality |
lethal
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:prevalence |
rare
|
| gptkbp:prevention |
carrier screening
|
| gptkbp:result |
euthanasia usually required
|
| gptkbp:symptom |
seizures
muscle rigidity abnormal eye movements diluted coat color inability to stand neurological dysfunction opisthotonus |
| gptkbp:treatment |
none
|
| gptkbp:bfsParent |
gptkb:Arabian
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Lavender Foal Syndrome
|