Feingold syndrome - Ontology Report

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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	go back to main search page
Accession:	DOID:0060464	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

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Genes (1)

Feingold syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mycn

MYCN proto-oncogene, bHLH transcription factor

ISO

CTD Direct Evidence: marker/mechanism
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: MMT 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

Feingold Syndrome 1