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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;   MIM:PS164280;   ORDO:1305


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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
ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome		 CTD
ClinVar		 PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 More... NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
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: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 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 19072
    syndrome 11111
      Feingold syndrome 1
        Feingold Syndrome 1 1
        Feingold Syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 19072
    Developmental Disease 14560
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        genetic disease 13282
          monogenic disease 10664
            autosomal genetic disease 9838
              autosomal dominant disease 6521
                complex cortical dysplasia with other brain malformations 1633
                  Malformations of Cortical Development, Group I 1393
                    microcephaly 1143
                      Feingold syndrome 1
                        Feingold Syndrome 1 1
                        Feingold Syndrome 2 0
paths to the root