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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:614732
 xref: GARD:12312
For additional species annotation, visit the Alliance of Genome Resources.



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMAGe syndrome
OMIM
CTD
ClinVar
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24098681 More... NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      IMAGe syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        Female Urogenital Diseases and Pregnancy Complications 2213
          Pregnancy Complications 651
            Fetal Diseases 325
              Fetal Growth Retardation 187
                IMAGe syndrome 1
paths to the root