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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.


show annotations for term's descendants           Sort by:
 
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: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 17207
    syndrome 8126
      IMAGe syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Urogenital Diseases 4356
        Female Urogenital Diseases and Pregnancy Complications 2046
          Pregnancy Complications 573
            Fetal Diseases 251
              Fetal Growth Retardation 168
                IMAGe syndrome 1
paths to the root