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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 4
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Accession:DOID:0080137 term browser browse the term
Definition:A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. (DO)
Synonyms:exact_synonym: MEN4;   multiple endocrine neoplasia, type IV
 primary_id: MESH:C567059
 alt_id: OMIM:610755
For additional species annotation, visit the Alliance of Genome Resources.


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multiple endocrine neoplasia type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 4
ClinVar Annotator: match by OMIM:610755
OMIM
ClinVar
PMID:3328816, PMID:11986963, PMID:15026335, PMID:15607373, PMID:17030811, PMID:17372254, PMID:17519308, PMID:19141585, PMID:20075119, PMID:20530095, PMID:20824794, PMID:21289244, PMID:21454826, PMID:21575944, PMID:22026581, PMID:22291433, PMID:22547391, PMID:23273568, PMID:23505216, PMID:23555276, PMID:24033266, PMID:25058500, PMID:25741868, PMID:26603463, PMID:26762354, PMID:26989398, PMID:27038812, PMID:27153395, PMID:28425505, PMID:28492532, PMID:28667701 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 4 ClinVar PMID:15026335, PMID:20075119, PMID:20530095, PMID:21454826, PMID:23273568, PMID:23505216, PMID:23555276, PMID:25741868, PMID:28492532, PMID:28667701 NCBI chr 4:168,639,930...168,668,345
Ensembl chr 4:168,639,940...168,656,673
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 4
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
ClinVar PMID:2008030, PMID:2660074, PMID:2904651, PMID:3078962, PMID:7491519, PMID:7536460, PMID:7595171, PMID:7608256, PMID:7633441, 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:7977365, PMID:8099202, PMID:8103403, PMID:8114940, PMID:8570194, PMID:8595427, 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:9498388, PMID:9506724, PMID:9620546, PMID:9681850, PMID:9681851, PMID:9699127, PMID:9820617, PMID:9839497, PMID:9879991, PMID:9950371, PMID:10024437, PMID:10076558, PMID:10235148, PMID:10369718, PMID:10445857, PMID:10462620, PMID:10490816, PMID:10522989, PMID:10679286, PMID:11114642, PMID:11230481, PMID:11351254, PMID:11389085, PMID:11524247, PMID:11562352, PMID:11739416, PMID:11900218, PMID:11935126, PMID:11939755, PMID:11987030, PMID:12000816, PMID:12116277, PMID:12205548, PMID:12466368, PMID:12566528, PMID:12604374, PMID:12686527, PMID:12711285, PMID:12746565, PMID:12788868, PMID:12864791, PMID:14561794, 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:15855933, PMID:15858153, PMID:15870131, PMID:16053382, PMID:16099853, PMID:16118333, PMID:16314641, PMID:16322339, PMID:16343097, PMID:16388093, PMID:16469774, PMID:16525712, PMID:16705552, PMID:16707008, PMID:16715139, PMID:16736292, PMID:16778204, PMID:16817830, PMID:16849421, PMID:16865647, PMID:16868135, PMID:17021738, PMID:17047083, PMID:17065770, PMID:17097365, PMID:17102080, PMID:17102083, PMID:17102091, PMID:17108110, PMID:17178962, PMID:17209045, PMID:17270543, PMID:17316110, 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:18976013, PMID:19015274, PMID:19041016, PMID:19062722, PMID:19240193, PMID:19255327, PMID:19336503, PMID:19469690, PMID:19472011, PMID:19825962, PMID:19826964, PMID:19906784, PMID:20065189, PMID:20080836, PMID:20368568, PMID:20516206, PMID:20554711, PMID:20847059, PMID:20943719, PMID:20979234, PMID:21054478, PMID:21253810, PMID:21254918, PMID:21311890, PMID:21422799, PMID:21422803, PMID:21449769, PMID:21455200, PMID:21470995, PMID:21655256, PMID:21765987, PMID:21810974, PMID:21986619, PMID:22025146, PMID:22068382, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22584710, PMID:22676344, PMID:22703879, PMID:22900816, PMID:22992277, PMID:23056499, PMID:23295303, PMID:23404858, PMID:23416954, PMID:23617071, PMID:23723040, PMID:23861463, PMID:24033266, PMID:24064755, PMID:24152999, PMID:24331334, PMID:24375508, PMID:24449023, PMID:24561444, PMID:24617864, PMID:24716929, 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:26046350, PMID:26084817, PMID:26269449, PMID:26356818, PMID:26467025, PMID:26556299, PMID:26732158, PMID:27153395, PMID:27406704, PMID:27539324, PMID:27698838, PMID:27807060, PMID:27994876, PMID:28099363, PMID:28323957, PMID:28469506, PMID:28492532, PMID:28647780, PMID:28951487, PMID:29097883, PMID:29133048, PMID:29197744, PMID:29656518, PMID:30311386, PMID:30644554, PMID:30927507, PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Hereditary Neoplastic Syndromes 815
        multiple endocrine neoplasia 12
          multiple endocrine neoplasia type 4 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                multiple endocrine neoplasia type 4 3
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.