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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, Mental Retardation, and Tracheoesophageal Fistula Syndrome;   Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome;   Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome;   ODED;   ODED syndrome;   digital anomalies with short palpebral fissures and atresia of esophagus or duodenum;   microcephaly and digital abnormalities with normal intelligence;   microcephaly-digital anomalies-normal intelligence syndrome;   microcephaly-oculo-digito-esophageal-duodenal 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 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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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 More... NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Feingold syndrome 1
        Feingold Syndrome 1 1
        Feingold Syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                complex cortical dysplasia with other brain malformations 1195
                  Malformations of Cortical Development, Group I 1054
                    microcephaly 897
                      Feingold syndrome 1
                        Feingold Syndrome 1 1
                        Feingold Syndrome 2 0
paths to the root