Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
ocular
craniofacial gastrointestinal |
| gptkbp:firstDescribed |
2007
|
| gptkbp:frequency |
very rare
|
| gptkbp:hasGeneticCause |
mutation in FREM1 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
MOTA syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Manitoba,_Canada
|
| gptkbp:OMIM |
613485
|
| gptkbp:symptom |
abnormalities of the eyelids
anorectal anomalies bifid nose facial clefting nasal anomalies telecanthus |
| gptkbp:synonym |
Manitoba-oculo-tricho-anal syndrome
|
| gptkbp:bfsParent |
gptkb:FREM1
|
| gptkbp:bfsLayer |
7
|