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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:multiple endocrine neoplasia type 2B
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Accession:DOID:10016 term browser browse the term
Definition:A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. (DO)
Synonyms:exact_synonym: MEA 2b;   MEA IIb;   MEN 2b;   MEN 3;   MEN III;   MEN IIb;   MEN type IIB;   MEN2b;   Multiple Endocrine Neoplasia, Type IIb;   Wagenmann Froboese syndrome;   mucosal neuroma syndromes;   mucosal neuromata with endocrine tumors;   multiple endocrine neoplasia, type 3;   multiple endocrine neoplasms type 2B
 narrow_synonym: MEN3;   MUCOSAL NEUROMA SYNDROME;   MULTIPLE ENDOCRINE NEOPLASIA, TYPE III
 primary_id: MESH:D018814
 alt_id: OMIM:162300
 xref: ICD10CM:E31.23;   ICD9CM:258.03;   NCI:C3227;   ORDO:247709
For additional species annotation, visit the Alliance of Genome Resources.


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multiple endocrine neoplasia type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:162300
ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 3		 CTD
MouseDO
ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Hereditary Neoplastic Syndromes 1284
        multiple endocrine neoplasia 20
          multiple endocrine neoplasia type 2B 1
            Ganglioneuromatosis of the Alimentary Tract 0
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                multiple endocrine neoplasia type 2B 1
                  Ganglioneuromatosis of the Alimentary Tract 0
paths to the root