Search Ontology:
Human Disease
IMAGe syndrome
- Term ID
- DOID:0050885
- Synonyms
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- 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
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- GARD:12312
- MIM:614732
- Ontology
- Human Disease ( DOID:0050885 )
- is a type of
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