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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:neurofibromatosis
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Accession:DOID:8712 term browser browse the term
Definition:A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
Synonyms:exact_synonym: Multiple Neurofibroma;   Recklinghausen's neurofibromatosis;   acoustic neurofibromatosis;   central neurofibromatosis;   multiple neurofibromas;   neurofibromatoses;   neurofibromatosis syndrome;   neurofibromatosis syndromes;   peripheral neurofibromatosis;   von Reklinghausen disease
 narrow_synonym: NEUROFIBROMATOSIS TYPE 6;   neurofibromatosis 3;   neurofibromatosis type 3;   neurofibromatosis type 4;   neurofibromatosis type IV;   type IV neurofibromatosis of Riccardi
 primary_id: MESH:D017253
 xref: EFO:0003092;   EFO:0008514;   GARD:10420;   ICD10CM:Q85.00;   ICD10CM:Q85.01;   ICD10CM:Q85.02;   ICD9CM:237.7;   NCI:C3273;   NCI:C3274;   NCI:C6727;   ORDO:636;   ORDO:637;   ORDO:93921
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
neurofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6
CTD
ClinVar
PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISS OMIM:101000 | OMIM:162200 | OMIM:162210 | OMIM:162260 | OMIM:162270 MouseDO NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
JBrowse link
neurilemmomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2
DNA, protein:multiple, multiple:multiple, blood (human)
DNA:multiple:multiple (human)
CTD
ClinVar
OMIM
RGD
PMID:16199547 PMID:23999291 PMID:24033266 PMID:24362817 PMID:24448499 More... RGD:151708709, RGD:151708708, RGD:151708704 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Schwannomatosis 1 OMIM
ClinVar
PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 More... RGD:155804288, RGD:151708708, RGD:151708704 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
neurofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:blood RGD PMID:22120694 RGD:6483542 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 More... NCBI chr10:64,485,760...64,489,660
Ensembl chr10:64,485,200...64,489,843
JBrowse link
G Evi2b ecotropic viral integration site 2B ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 More... NCBI chr10:64,472,693...64,474,311
Ensembl chr10:64,471,505...64,481,560
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Neurofibromatosis, type 1
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:190611 PMID:1071297 PMID:1287981 PMID:1302608 PMID:1483690 More... RGD:1302540, RGD:151708706, RGD:1580933 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Omg oligodendrocyte-myelin glycoprotein ISO ClinVar Annotator: match by term: Neurofibromatosis, type 1 ClinVar PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 More... NCBI chr10:64,461,350...64,464,084
Ensembl chr10:64,461,350...64,464,084
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17704776 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA,protein:increased expression:dermis RGD PMID:12930297 RGD:8547970 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
neurofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494
JBrowse link
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240
JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620
JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
JBrowse link
G Gas2l1 growth arrest-specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:79,951,702...79,961,830
Ensembl chr14:79,950,555...79,961,438
JBrowse link
G Hscb HscB mitochondrial iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516
JBrowse link
G LOC102551828 uncharacterized LOC102551828 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More...
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041
JBrowse link
G Nefh neurofilament heavy chain ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1479598 PMID:4000972 PMID:7535084 PMID:7666400 PMID:7711726 More... RGD:151708708, RGD:151708704 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098
JBrowse link
G Rasl10a RAS-like, family 10, member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468
JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
G Thoc5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718
JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
JBrowse link
G Zmat5 zinc finger, matrin type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594
JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:12807969 PMID:15645494 More... NCBI chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485
JBrowse link
Neurofibromatosis, Familial Spinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, familial spinal | ClinVar Annotator: match by term: Spinal neurofibromas OMIM
ClinVar
PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome OMIM
ClinVar
PMID:190611 PMID:1568246 PMID:7586657 PMID:7607663 PMID:7655472 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
JBrowse link
Watson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Café-au-lait macules with pulmonary stenosis | ClinVar Annotator: match by term: Pulmonic stenosis with cafe-au-lait spots OMIM
ClinVar
PMID:190611 PMID:1302608 PMID:1568246 PMID:7655472 PMID:7904209 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Neurocutaneous Syndromes 274
        neurofibromatosis 34
          NF1 Microduplication Syndrome 0
          Neurofibromatosis Type 3, Mixed Central and Peripheral 0
          Neurofibromatosis Type 4, of Riccardi 0
          Neurofibromatosis Type 5 0
          Neurofibromatosis, Familial Intestinal 0
          Neurofibromatosis, Familial Spinal 1
          Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 0
          chromosome 17q11.2 deletion syndrome 1
          neurilemmomatosis 3
          neurofibromatosis 1 + 8
          neurofibromatosis 2 24
          neurofibromatosis-Noonan syndrome 4
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                ectodermal dysplasia 431
                  Neurocutaneous Syndromes 274
                    neurofibromatosis 34
                      NF1 Microduplication Syndrome 0
                      Neurofibromatosis Type 3, Mixed Central and Peripheral 0
                      Neurofibromatosis Type 4, of Riccardi 0
                      Neurofibromatosis Type 5 0
                      Neurofibromatosis, Familial Intestinal 0
                      Neurofibromatosis, Familial Spinal 1
                      Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 0
                      chromosome 17q11.2 deletion syndrome 1
                      neurilemmomatosis 3
                      neurofibromatosis 1 + 8
                      neurofibromatosis 2 24
                      neurofibromatosis-Noonan syndrome 4
paths to the root