| Metadata | |
|---|---|
| ID | DOID:0050885 |
| Name | IMAGe syndrome |
| Definition | A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. http://omim.org/entry/614732, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173, https://www.ncbi.nlm.nih.gov/pubmed/14760276, https://www.ncbi.nlm.nih.gov/pubmed/22634751, https://www.ncbi.nlm.nih.gov/pubmed/23719190, https://www.ncbi.nlm.nih.gov/pubmed/24065356 |
| Xrefs | |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities [EXACT] |
| Parent Relationships |
is_a syndrome |