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multiple endocrine neoplasia type 2B - Ontology Report - Rat Genome Database

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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: MIM: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 H LOC106736614 RET 5' regulatory region IAGP ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2B
ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:43,072,914...43,077,291 JBrowse link
G H LOC110121502 VISTA enhancer hs2326 IAGP ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2B ClinVar NCBI chr10:43,086,364...43,087,440 JBrowse link
G H MCS+9.7 RET intron 1 enhancer IAGP ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2B ClinVar NCBI chr10:43,086,364...43,087,263 JBrowse link
G N Ret ret proto-oncogene ISO ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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 ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		JBrowse link
G G RET ret proto-oncogene ISO ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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 ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		JBrowse link
G P RET ret proto-oncogene ISO ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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 ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		JBrowse link
G S Ret ret proto-oncogene ISO ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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 ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602 		JBrowse link
G D RET ret proto-oncogene ISO ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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 ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G B RET ret proto-oncogene ISO ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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 ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G C Ret ret proto-oncogene ISO ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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 ClinVar
OMIM		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946 		JBrowse link
G R Ret ret proto-oncogene ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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
OMIM:162300		 CTD
OMIM
ClinVar
MouseDO		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G M Ret ret proto-oncogene IAGP
ISO		 OMIM:162300
ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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 Direct Evidence: marker/mechanism		 MouseDO
OMIM
ClinVar
CTD		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G H RET ret proto-oncogene IAGP
ISS
EXP		 ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2B
ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
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: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | 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
ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b
OMIM:162300
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Hereditary Neoplastic Syndromes 15201
        multiple endocrine neoplasia 464
          multiple endocrine neoplasia type 2B 13
            Ganglioneuromatosis of the Alimentary Tract 0
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                multiple endocrine neoplasia type 2B 13
                  Ganglioneuromatosis of the Alimentary Tract 0
paths to the root