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Metadata
DOID 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

GARD:12312

OMIM:614732

Subsets

DO_FlyBase_slim

Synonyms

intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities [EXACT]

Relationships

is_a syndrome

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