Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
IMAGe (Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, Genital anomalies)
|
| gptkbp:affects |
endocrine system
reproductive system skeletal system |
| gptkbp:causedBy |
mutation in CDKN1C gene
|
| gptkbp:firstDescribed |
1999
|
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
gptkb:ORPHA:2101
|
| https://www.w3.org/2000/01/rdf-schema#label |
IMAGe syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
614732
|
| gptkbp:onset |
congenital
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
gptkb:adrenal_hypoplasia_congenita
gptkb:metaphyseal_dysplasia intrauterine growth restriction genital anomalies |
| gptkbp:treatment |
hormone replacement therapy
|
| gptkbp:bfsParent |
gptkb:CDKN1C
|
| gptkbp:bfsLayer |
6
|