ONTOLOGY REPORT - ANNOTATIONS


Term:IMAGe syndrome
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Accession:DOID:0050885 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Adrenal Hypoplasia, Cytomegalic Type;   intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
 primary_id: MESH:C564543;   RDO:0013473
 alt_id: OMIM:614732
 xref: GARD:12312
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IMAGe syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkn1c cyclin-dependent kinase inhibitor 1C JBrowse link 1 216,661,067 216,663,791 RGD:7240710
RGD:8554872

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  disease 14875
    syndrome 4220
      IMAGe syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        Female Urogenital Diseases and Pregnancy Complications 1644
          Pregnancy Complications 462
            Fetal Diseases 175
              Fetal Growth Retardation 119
                IMAGe syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.