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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:AMED SYNDROME, DIGENIC
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Accession:DOID:9000959 term browser browse the term
Definition:An autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and poor overall growth with short stature.
Synonyms:exact_synonym: AMED SYNDROME;   AMEDS;   BMFS7;   BONE MARROW FAILURE SYNDROME 7, DIGENIC
 pimary_id: OMIM:619151
For additional species annotation, visit the Alliance of Genome Resources.


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AMED SYNDROME, DIGENIC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED SYNDROME, DIGENIC OMIM
ClinVar
PMID:33355142 NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:16046871 PMID:16440063 PMID:17885622 PMID:18056758 PMID:20010786 PMID:33355142 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    syndrome 7073
      myelodysplastic syndrome 117
        AMED SYNDROME, DIGENIC 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            disease of mental health 6024
              developmental disorder of mental health 3164
                specific developmental disorder 2345
                  intellectual disability 2193
                    AMED SYNDROME, DIGENIC 2
paths to the root