Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:abbreviation |
gptkb:GMS
|
| gptkbp:causedBy |
mutation in OCLN gene
|
| gptkbp:firstDescribed |
2010
|
| https://www.w3.org/2000/01/rdf-schema#label |
GMS syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
613531
|
| gptkbp:symptom |
distinct facial features
intellectual disability seizures microcephaly growth retardation |
| gptkbp:bfsParent |
gptkb:GMS
|
| gptkbp:bfsLayer |
6
|