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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:histiocytosis
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Accession:DOID:3405 term browser browse the term
Definition:General term for the abnormal appearance of histiocytes in the blood. Based on the pathological features of the cells involved rather than on clinical findings, the histiocytic diseases are subdivided into three groups: HISTIOCYTOSIS, LANGERHANS CELL; HISTIOCYTOSIS, NON-LANGERHANS-CELL; and HISTIOCYTIC DISORDERS, MALIGNANT.
Synonyms:exact_synonym: Hand Schuller Christian disease;   Histiocytoses;   chronic histiocytosis X
 primary_id: MESH:D015614
 alt_id: RDO:0004285
 xref: NCI:C3106
For additional species annotation, visit the Alliance of Genome Resources.



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histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22238637 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
JBrowse link
Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:28492532 PMID:29751792 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
JBrowse link
Familial Hemophagocytic Lymphohistiocytoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:1156555 PMID:10583959 PMID:11179007 PMID:11756153 PMID:14757862 More... NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:28492532 NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:16199547 PMID:19804848 PMID:19884660 PMID:20558610 PMID:20823128 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
JBrowse link
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,379,444...29,400,131
Ensembl chr20:29,382,668...29,399,946
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver: RGD PMID:26518437 PMID:26518437 RGD:11343232, RGD:11343232 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:14740318 PMID:28492532 NCBI chr 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr20:29,269,814...29,334,850
Ensembl chr20:29,270,193...29,334,858
JBrowse link
G Prf1 perforin 1 ISO DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar Annotator: match by OMIM:603553
ClinVar
OMIM
RGD
PMID:1156555 PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 More... RGD:6482809 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
familial hemophagocytic lymphohistiocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc13d unc-13 homolog D susceptibility ISO DNA:deletions, insertion, snps:exons, intron:multiple (human)
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3
ClinVar
OMIM
RGD
PMID:9536098 PMID:10459864 PMID:14622600 PMID:16199547 PMID:16278825 More... RGD:1600451 NCBI chr10:101,296,755...101,311,513
Ensembl chr10:101,296,776...101,311,687
JBrowse link
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,885,986...7,900,777
Ensembl chr 1:7,885,918...7,900,776
JBrowse link
G Ltv1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,565,673...7,578,398
Ensembl chr 1:7,565,669...7,578,563
JBrowse link
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518
JBrowse link
G Phactr2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,591,254...7,860,431
Ensembl chr 1:7,597,927...7,860,289
JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,477,295...7,517,229
Ensembl chr 1:7,477,177...7,517,228
JBrowse link
G Sf3b5 splicing factor 3b, subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,357,040...7,357,752
Ensembl chr 1:7,350,731...7,357,839
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 4
ClinVar Annotator: match by OMIM:603552
OMIM
ClinVar
PMID:15703195 PMID:20486178 PMID:24033266 PMID:24459464 PMID:24524345 More... NCBI chr 1:7,293,427...7,320,060
Ensembl chr 1:7,289,976...7,320,164
JBrowse link
G Zc2hc1b zinc finger, C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:15703195 PMID:20486178 PMID:28492532 PMID:28750028 NCBI chr 1:7,537,291...7,565,054
Ensembl chr 1:7,537,291...7,565,054
JBrowse link
familial hemophagocytic lymphohistiocytosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camsap3 calmodulin regulated spectrin-associated protein family, member 3 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,643,062...1,666,685
Ensembl chr12:1,643,251...1,666,685
JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,707,398...2,716,571
Ensembl chr12:2,707,398...2,716,554
JBrowse link
G Cd209 CD209 molecule ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
JBrowse link
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr 7:14,626,171...14,631,976
Ensembl chr 7:14,609,146...14,631,976
JBrowse link
G Cers4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,851,784...2,890,244
Ensembl chr12:2,851,784...2,886,828
JBrowse link
G Clec4g C-type lectin domain family 4, member G ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,780,370...1,785,027
Ensembl chr12:1,780,371...1,784,985
JBrowse link
G Clec4m C-type lectin domain family 4 member M ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
JBrowse link
G Ctxn1 cortexin 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,610,465...2,612,076 JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,640,936...2,684,787
Ensembl chr12:2,645,061...2,684,784
JBrowse link
G Evi5l ecotropic viral integration site 5-like ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,519,648...2,558,766
Ensembl chr12:2,519,671...2,559,950
JBrowse link
G Fcer2 Fc epsilon receptor II ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
JBrowse link
G Lrrc8e leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,578,240...2,589,407
Ensembl chr12:2,578,315...2,589,412
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,591,312...2,604,211
Ensembl chr12:2,591,219...2,604,222
JBrowse link
G Mcemp1 mast cell-expressed membrane protein 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,721,781...1,727,350
Ensembl chr12:1,718,730...1,725,986
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Pcp2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,681,659...1,683,899
Ensembl chr12:1,681,659...1,683,899
JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Retn resistin ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G Snapc2 small nuclear RNA activating complex, polypeptide 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,605,794...2,608,997
Ensembl chr12:2,605,810...2,608,999
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 More... NCBI chr12:1,689,364...1,701,145
Ensembl chr12:1,689,410...1,700,458
JBrowse link
G Tgfbr3l transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 Ensembl chr12:2,600,934...2,604,222 JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,612,581...2,629,374
Ensembl chr12:2,612,581...2,629,351
JBrowse link
G Trappc5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,737,666...1,741,312
Ensembl chr12:1,737,627...1,742,637
JBrowse link
G Xab2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:1,667,672...1,679,702
Ensembl chr12:1,667,672...1,679,692
JBrowse link
Familial Hemophagocytic Lymphohistiocytosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 OMIM
ClinVar
NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli disease ClinVar PMID:10835631 PMID:16551969 PMID:18350256 PMID:19953648 PMID:24033266 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 1
ClinVar Annotator: match by OMIM:214450
OMIM
ClinVar
PMID:9207796 PMID:10704277 PMID:12058346 PMID:25326635 PMID:25741868 More... NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:607624
OMIM
ClinVar
PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12531900 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3
ClinVar Annotator: match by OMIM:609227
OMIM
ClinVar
PMID:12148598 PMID:12897212 PMID:25741868 NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by null ClinVar PMID:12148598 PMID:12897212 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
JBrowse link
hemophagocytic lymphohistiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule ISO protein:increased expression:blood serum (human) RGD PMID:15613100 RGD:127285796 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISS MouseDO NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chr16:67,430,684...67,442,459
Ensembl chr16:67,430,578...67,442,730
JBrowse link
G Il18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Prf1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS MouseDO NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
histiocytic sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:9536098 PMID:11336668 PMID:15071507 PMID:15731174 PMID:17576681 More... NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:25741868 NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:9630231 PMID:10606976 PMID:11121059 PMID:11133745 PMID:11313270 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:25741868 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
ClinVar Annotator: match by OMIM:602782
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
JBrowse link
Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISS OMIM:246400 | OMIM:604856 MouseDO NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
malignant histiocytic disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISS MouseDO NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
JBrowse link
Niemann-Pick disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased expression:cerebellum: RGD PMID:20883783 RGD:8693571 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISS MouseDO NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO
ISS
MouseDO
RGD
PMID:11567215 RGD:1601483 NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 susceptibility ISO Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12631268 PMID:12556236 RGD:1601336 NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
Niemann-Pick disease type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 More... NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 disease_progression ISO protein:decreased expression:cerebellum (mouse) RGD PMID:16277603 RGD:6482797 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar Annotator: match by term: Niemann-Pick disease, type A
ClinVar Annotator: match by OMIM:257200
OMIM
ClinVar
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
Niemann-Pick disease type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:15221801 PMID:17011332 More... NCBI chr 1:159,896,889...159,920,505
Ensembl chr 1:159,896,880...159,920,627
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
ClinVar Annotator: match by term: Niemann-Pick disease, type B
ClinVar Annotator: match by OMIM:607616
OMIM
ClinVar
PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
Niemann-Pick disease type C1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease type C1 ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25741868 More... NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Lipa lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease type C1
ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form
ClinVar Annotator: match by term: Niemann-pick disease, type c1, adult form
ClinVar Annotator: match by OMIM:257220
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 PMID:9211850 More... NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C
ClinVar Annotator: match by term: Niemann-Pick disease type C1
ClinVar PMID:11125141 PMID:11333381 PMID:11567215 PMID:12955717 PMID:15465422 More... NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
JBrowse link
G Rmc1 regulator of MON1-CCZ1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C ClinVar NCBI chr18:3,359,848...3,379,764
Ensembl chr18:3,359,832...3,380,795
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
Niemann-Pick disease type C2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp1 acylphosphatase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:23352160 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25558065 More... NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2
ClinVar Annotator: match by term: Niemann-Pick disease type C2
ClinVar Annotator: match by OMIM:607625
OMIM
ClinVar
PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 PMID:12955717 More... NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
JBrowse link
Niemann-Pick Disease Type D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type D ClinVar PMID:9245994 PMID:9634529 PMID:11545687 PMID:12401890 PMID:16126423 More... NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral ClinVar PMID:7762557 PMID:8051942 PMID:9266408 PMID:14681755 PMID:15234149 More... NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
non-Langerhans-cell histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prf1 perforin 1 ISO DNA:deletion, nonsense mutation, missense mutations: ; Lymphohistiocytosis, Hemophagocytic, OMIM:603553 RGD PMID:11179007 RGD:1599929 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO Griscelli syndrome type 2, OMIM: 607624;DNA:point mutations:exon:L130P, A152P) RGD PMID:12531900 RGD:1601587 NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829
JBrowse link
sea-blue histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:11095479 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
Sinus Histiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      immune system disease 3398
        lymphatic system disease 1333
          histiocytosis 71
            Familial Lipochrome Histiocytosis 0
            Langerhans-cell histiocytosis + 1
            Progressive Mucinous Histiocytosis 0
            histiocytosis-lymphadenopathy plus syndrome 1
            malignant histiocytic disease + 7
            non-Langerhans-cell histiocytosis + 63
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          lymphatic system disease 1333
            histiocytosis 71
              Familial Lipochrome Histiocytosis 0
              Langerhans-cell histiocytosis + 1
              Progressive Mucinous Histiocytosis 0
              histiocytosis-lymphadenopathy plus syndrome 1
              malignant histiocytic disease + 7
              non-Langerhans-cell histiocytosis + 63
paths to the root