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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
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Accession:DOID:0080952 term browser browse the term
Definition:A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. (DO)
Synonyms:exact_synonym: AMED SYNDROME, DIGENIC;   AMEDS;   BMFS7;   BONE MARROW FAILURE SYNDROME 7, DIGENIC
 alt_id: DOID:9000959
 pimary_id: OMIM:619151
For additional species annotation, visit the Alliance of Genome Resources.


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AMED syndrome 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 17147
    syndrome 8040
      myelodysplastic syndrome 117
        AMED syndrome 2
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        central nervous system disease 10373
          brain disease 9729
            disease of mental health 7037
              developmental disorder of mental health 4372
                specific developmental disorder 3630
                  intellectual disability 3442
                    AMED syndrome 2
paths to the root