Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
brain
gastrointestinal tract retina bones |
| gptkbp:causedBy |
mutation in CTC1 gene
|
| gptkbp:complication |
vision loss
neurological impairment |
| gptkbp:firstDescribed |
2009
|
| https://www.w3.org/2000/01/rdf-schema#label |
Coats plus syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
612199
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
gptkb:anemia
gastrointestinal bleeding leukodystrophy poor growth osteopenia retinal telangiectasia intracranial calcifications brain cysts |
| gptkbp:synonym |
CRMCC
cerebroretinal microangiopathy with calcifications and cysts |
| gptkbp:treatment |
supportive care
symptomatic management |
| gptkbp:bfsParent |
gptkb:MCOPS3
|
| gptkbp:bfsLayer |
7
|