OBO ID: DOID:0050885
Term Name: IMAGe syndrome Search Ontology:
Synonyms:
  • intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
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. (6)
References:
Ontology: Human Disease   ( DOID:0050885 )
Relationships
is a type of:
OTHER IMAGe syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDKN1C IMAGE syndrome 614732
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None