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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:Feingold syndrome
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Accession:DOID:0060464 term browser browse the term
Definition:A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. (DO)
Synonyms:exact_synonym: Brunner Winter syndrome;   FGLDS;   MMT syndrome;   MODED;   MODED syndrome;   Microcephaly and Digital Abnormalities with Normal Intelligence;   Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome;   Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome;   Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome;   Microcephaly-oculo-digito-esophageal-duodenal syndrome;   ODED;   ODED syndrome;   brachydactyly with short stature and microcephaly;   digital anomalies with short palpebral fissures and atresia of esophagus or duodenum;   microcephaly-digital anomalies-normal intelligence syndrome;   oculo-digito-esophageal-duodenal syndrome;   oculo-digito-esophagoduodental (ODED) syndrome;   oculodigitoesophagoduodenal syndrome
 primary_id: MESH:C537734
 xref: GARD:8407;   OMIM:PS164280;   ORDO:1305
For additional species annotation, visit the Alliance of Genome Resources.


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Feingold syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19852433, PMID:21532573 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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Feingold Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Feingold syndrome 1 ClinVar
OMIM
PMID:15821734, PMID:16906565, PMID:18470948, PMID:18671284, PMID:20301770, PMID:25741868 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Feingold syndrome 1
        Feingold Syndrome 1 1
        Feingold Syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      Feingold syndrome 1
                        Feingold Syndrome 1 1
                        Feingold Syndrome 2 0
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.