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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 ClinVar Annotator: match by OMIM:162300
ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b
ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 3
OMIM
ClinVar
PMID:2008030, PMID:2660074, PMID:2904651, PMID:3078962, PMID:7491519, PMID:7536460, PMID:7581377, PMID:7595171, PMID:7608256, PMID:7633441, PMID:7647787, PMID:7704557, PMID:7784092, PMID:7824936, PMID:7835899, PMID:7845675, PMID:7849700, PMID:7849720, PMID:7860065, PMID:7874109, PMID:7881414, PMID:7906417, PMID:7906866, PMID:7907913, PMID:7911697, PMID:7914213, PMID:7915165, PMID:7915822, PMID:7916559, PMID:7977365, PMID:8099202, PMID:8103403, PMID:8114940, PMID:8570194, PMID:8595427, PMID:8663426, PMID:8675603, PMID:8757765, PMID:8765374, PMID:8782503, PMID:8797874, PMID:8807338, PMID:8855832, PMID:8880581, PMID:8909322, PMID:8918855, PMID:9012462, PMID:9067749, PMID:9090527, PMID:9111992, PMID:9146685, PMID:9174404, PMID:9223675, PMID:9230192, PMID:9242375, PMID:9259198, PMID:9263528, PMID:9384613, PMID:9398735, PMID:9497256, PMID:9498388, PMID:9502784, PMID:9506724, PMID:9620546, PMID:9681850, PMID:9681851, PMID:9699127, PMID:9727738, PMID:9760196, PMID:9820617, PMID:9839497, PMID:9879991, PMID:9950371, PMID:10024437, PMID:10076558, PMID:10235148, PMID:10369718, PMID:10445857, PMID:10462620, PMID:10484767, PMID:10490816, PMID:10522989, PMID:10646792, PMID:10679286, PMID:10790203, PMID:10826520, PMID:10921886, PMID:11061555, PMID:11114642, PMID:11230481, PMID:11295841, PMID:11351254, PMID:11389085, PMID:11436122, PMID:11524247, PMID:11562352, PMID:11739416, PMID:11900218, PMID:11935126, PMID:11939755, PMID:11953745, PMID:11955539, PMID:11987030, PMID:12000816, PMID:12016484, PMID:12086152, PMID:12116277, PMID:12205548, PMID:12466368, PMID:12566528, PMID:12604374, PMID:12640453, PMID:12686527, PMID:12711285, PMID:12746565, PMID:12788868, PMID:12864791, PMID:14557476, PMID:14561794, PMID:14566559, PMID:14602786, PMID:14633923, PMID:14715928, PMID:14718397, PMID:15184865, PMID:15277225, PMID:15281979, PMID:15292360, PMID:15472167, PMID:15523405, PMID:15531714, PMID:15588376, PMID:15699703, PMID:15741265, PMID:15753368, PMID:15834508, PMID:15855933, PMID:15858153, PMID:15870131, PMID:16053382, PMID:16099853, PMID:16118333, PMID:16314641, PMID:16322339, PMID:16343097, PMID:16388093, PMID:16441254, PMID:16469774, PMID:16525712, PMID:16649977, PMID:16705552, PMID:16707008, PMID:16712668, PMID:16715139, PMID:16736292, PMID:16767674, PMID:16778204, PMID:16817830, PMID:16849421, PMID:16865647, PMID:16868135, PMID:16928683, PMID:17009072, PMID:17021738, PMID:17047083, PMID:17065770, PMID:17097365, PMID:17102080, PMID:17102083, PMID:17102091, PMID:17108110, PMID:17108762, PMID:17178962, PMID:17209045, PMID:17270543, PMID:17316110, PMID:17344846, PMID:17483988, PMID:17527003, PMID:17573899, PMID:17605401, PMID:17610518, PMID:17639058, PMID:17848262, PMID:17895320, PMID:17898100, PMID:18058472, PMID:18062802, PMID:18063059, PMID:18073307, PMID:18206480, PMID:18209889, PMID:18252215, PMID:18541894, PMID:18794325, PMID:18805915, PMID:18976013, PMID:19015274, PMID:19041016, PMID:19062722, PMID:19240193, PMID:19255327, PMID:19336503, PMID:19443294, PMID:19469690, PMID:19472011, PMID:19825962, PMID:19826964, PMID:19906784, PMID:20013610, PMID:20039896, PMID:20065189, PMID:20080836, PMID:20103606, PMID:20368568, PMID:20473317, PMID:20516206, PMID:20532249, PMID:20554711, PMID:20664475, PMID:20847059, PMID:20943719, PMID:20979234, PMID:20981092, PMID:21054478, PMID:21253810, PMID:21254918, PMID:21311890, PMID:21422799, PMID:21422803, PMID:21449769, PMID:21455200, PMID:21470995, PMID:21479187, PMID:21490379, PMID:21551259, PMID:21655256, PMID:21711375, PMID:21765987, PMID:21810974, PMID:21900877, PMID:21934104, PMID:21986619, PMID:21995290, PMID:22025146, PMID:22068382, PMID:22174939, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22395866, PMID:22517557, PMID:22584709, PMID:22584710, PMID:22648184, PMID:22676047, PMID:22676344, PMID:22703879, PMID:22729463, PMID:22837065, PMID:22900816, PMID:22992277, PMID:22995991, PMID:23056499, PMID:23084198, PMID:23259706, PMID:23295303, PMID:23404858, PMID:23416954, PMID:23461807, PMID:23527089, PMID:23617071, PMID:23723040, PMID:23861463, PMID:24033266, PMID:24055113, PMID:24064755, PMID:24152999, PMID:24331334, PMID:24336963, PMID:24375508, PMID:24429398, PMID:24449023, PMID:24561444, PMID:24617864, PMID:24716929, PMID:24728327, PMID:24745698, PMID:24784869, PMID:24805091, PMID:24845513, PMID:25027091, PMID:25157968, PMID:25374962, PMID:25425582, PMID:25440022, PMID:25515555, PMID:25628771, PMID:25637381, PMID:25694125, PMID:25741868, PMID:25810047, PMID:25887804, PMID:25950813, PMID:25985138, PMID:26034076, PMID:26046350, PMID:26084817, PMID:26206375, PMID:26269449, PMID:26321248, PMID:26332594, PMID:26356818, PMID:26395553, PMID:26467025, PMID:26556299, PMID:26559152, PMID:26580448, PMID:26732158, PMID:26876062, PMID:27099842, PMID:27153395, PMID:27406704, PMID:27525386, PMID:27527004, PMID:27539324, PMID:27683183, PMID:27698838, PMID:27807060, PMID:27884173, PMID:27994876, PMID:28099363, PMID:28323957, PMID:28469506, PMID:28492532, PMID:28578594, PMID:28647780, PMID:28946813, PMID:28951487, PMID:29097883, PMID:29133048, PMID:29197744, PMID:29625052, PMID:29656518, PMID:30217742, PMID:30311386, PMID:30644554, PMID:30927507, PMID:31159747, PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Hereditary Neoplastic Syndromes 815
        multiple endocrine neoplasia 12
          multiple endocrine neoplasia type 2B 1
            Ganglioneuromatosis of the Alimentary Tract 0
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                multiple endocrine neoplasia type 2B 1
                  Ganglioneuromatosis of the Alimentary Tract 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.