Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:rare_disease
|
| gptkbp:abbreviation |
gptkb:ADROMICFMS
|
| gptkbp:category |
gptkb:genetic_disorder
|
| gptkbp:firstDescribed |
2018
|
| gptkbp:fullName |
Acral Digital Reticulate Onychodystrophy Myopathy Intellectual disability Congenital Facial dysmorphism Microcephaly Skeletal anomalies syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ADROMICFMS gene (provisional)
|
| gptkbp:OMIM |
618657
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
gptkb:intellectual_disability
gptkb:muscular_dystrophy microcephaly skeletal anomalies acral digital reticulate pigmentation congenital facial dysmorphism onychodystrophy |
| gptkbp:bfsParent |
gptkb:Yung_Beef
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
ADROMICFMS
|