Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:hasGeneticCause |
mutation in STN1 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Coats plus syndrome 3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
618810
|
| gptkbp:symptom |
gastrointestinal bleeding
leukodystrophy osteopenia retinal telangiectasia intracranial calcifications |
| gptkbp:synonym |
CP3
STN1-related Coats plus syndrome |
| gptkbp:bfsParent |
gptkb:MCOPS3
|
| gptkbp:bfsLayer |
7
|