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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;   intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
 primary_id: MESH:C564543;   RDO:0013473
 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 ClinVar Annotator: match by OMIM:614732
ClinVar Annotator: match by term: IMAGE Syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15769992, PMID:22634751, PMID:24098681, PMID:25057881, PMID:25614875, PMID:28492532, PMID:30374176 NCBI chr 1:216,661,067...216,663,791
Ensembl chr 1:216,661,080...216,663,721
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      IMAGe syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1904
          Pregnancy Complications 571
            Fetal Diseases 237
              Fetal Growth Retardation 172
                IMAGe syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.