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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   IMAGE;   intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities;   intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
 primary_id: MESH:C564543
 alt_id: OMIM:202155;   OMIM:614732
 xref: GARD:12312


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IMAGe syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies OMIM
ClinVar		 PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 More... NCBI chr11:2,908,537...2,911,134 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10173
      IMAGe syndrome 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      Urogenital Diseases 4730
        Female Urogenital Diseases and Pregnancy Complications 2330
          Pregnancy Complications 727
            Fetal Diseases 344
              Fetal Growth Retardation 194
                IMAGe syndrome 1
paths to the root