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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 chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
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:29751792 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
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:10583959 PMID:11179007 PMID:14757862 PMID:15755897 PMID:16374518 PMID:16860143 PMID:17266056 PMID:17873118 PMID:18190960 PMID:18710388 PMID:19487666 PMID:22437823 PMID:23255033 PMID:23264592 PMID:23592409 PMID:24033266 PMID:24744671 PMID:24916509 PMID:25741868 PMID:26184781 PMID:28492532 PMID:29665027 PMID:31395954 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Stx11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:28492532 NCBI chr 1:7,039,160...7,064,870
Ensembl chr 1:7,039,162...7,064,870
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis
ClinVar Annotator: match by term: Familial histiocytic reticulosis
ClinVar PMID:19804848 PMID:19884660 PMID:20558610 PMID:20823128 PMID:22451424 PMID:23687090 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Unc13d unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:25741868 NCBI chr10:104,613,907...104,628,664
Ensembl chr10:104,613,928...104,628,676
JBrowse link
familial hemophagocytic lymphohistiocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Il33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
JBrowse link
G Prf1 perforin 1 ISO DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2
ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to
ClinVar Annotator: match by OMIM:603553
ClinVar
OMIM
PMID:7851014 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15205266 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15609274 PMID:15632205 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17266056 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17674359 PMID:17873118 PMID:18074390 PMID:18190960 PMID:18496551 PMID:18710388 PMID:19487666 PMID:19595804 PMID:20092789 PMID:20638125 PMID:21152410 PMID:21157294 PMID:21234777 PMID:21674762 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22437823 PMID:22970278 PMID:23073044 PMID:23255033 PMID:23264592 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24215106 PMID:24309606 PMID:24744671 PMID:24916509 PMID:25215106 PMID:25233452 PMID:25297583 PMID:25312756 PMID:25326635 PMID:25326637 PMID:25354579 PMID:25741868 PMID:25742477 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26903364 PMID:27271812 PMID:27290639 PMID:27391055 PMID:27535533 PMID:28353193 PMID:28492532 PMID:29113160 PMID:29357941 PMID:29665027 PMID:30697212 PMID:31395954 PMID:32963807, PMID:12060139 RGD:6482809 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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
PMID:10459864 PMID:14622600 PMID:16278825 PMID:16825436 PMID:17993578 PMID:18240215 PMID:18492689 PMID:18759271 PMID:19484379 PMID:19704116 PMID:20823128 PMID:21094958 PMID:21152410 PMID:21248318 PMID:21600143 PMID:21653941 PMID:21674762 PMID:21755595 PMID:21881043 PMID:21931115 PMID:23180437 PMID:23560006 PMID:23669735 PMID:23840885 PMID:24033266 PMID:24139496 PMID:24309606 PMID:24459464 PMID:24470399 PMID:24825797 PMID:24842371 PMID:24916509 PMID:24935083 PMID:25502423 PMID:25553300 PMID:25573973 PMID:25741868 PMID:25901543 PMID:26342526 PMID:26764160 PMID:27123661 PMID:27164702 PMID:27209435 PMID:27896523 PMID:28399723 PMID:28492532 PMID:28848550 PMID:29113160 PMID:29665027, PMID:14622600 RGD:1600451 NCBI chr10:104,613,907...104,628,664
Ensembl chr10:104,613,928...104,628,676
JBrowse link
familial hemophagocytic lymphohistiocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:16582076 PMID:20486178 PMID:24033266 PMID:24459464 PMID:24524345 PMID:24916509 PMID:25741868 PMID:26176172 PMID:28492532 PMID:28750028 PMID:29113160 NCBI chr 1:7,039,160...7,064,870
Ensembl chr 1:7,039,162...7,064,870
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 chr12:2,133,935...2,157,403
Ensembl chr12:2,134,022...2,157,403
JBrowse link
G Ccl25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,429,492...2,438,928
Ensembl chr12:2,429,509...2,438,817
JBrowse link
G Cd209 CD209 molecule ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
JBrowse link
G Cd320 CD320 molecule ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr 7:18,700,445...18,706,244
Ensembl chr 7:18,700,344...18,706,244
JBrowse link
G Cers4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:4,439,750...4,474,759
Ensembl chr12:4,439,750...4,474,729
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 chr12:2,273,649...2,278,594
Ensembl chr12:2,273,941...2,277,169
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 chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
JBrowse link
G Ctxn1 cortexin 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,534,212...2,535,823
Ensembl chr12:2,534,212...2,535,822
JBrowse link
G Elavl1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,461,502...2,502,432
Ensembl chr12:2,461,502...2,502,432
JBrowse link
G Evi5l ecotropic viral integration site 5-like ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,588,066...2,626,336
Ensembl chr12:2,587,891...2,626,310
JBrowse link
G Fcer2 Fc fragment of IgE receptor II ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,233,772...2,245,324
Ensembl chr12:2,233,778...2,245,324
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 chr12:2,557,267...2,568,416
Ensembl chr12:2,557,275...2,568,382
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,546,278...2,555,310
Ensembl chr12:2,548,218...2,555,164
JBrowse link
G Mcemp1 mast cell-expressed membrane protein 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,211,970...2,217,005
Ensembl chr12:2,213,471...2,217,433
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Pcp2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,172,378...2,174,674
Ensembl chr12:2,172,378...2,174,131
JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,170,630...2,173,259
Ensembl chr12:2,170,630...2,173,251
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Retn resistin ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
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 chr12:2,537,291...2,540,774
Ensembl chr12:2,537,275...2,540,668
JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5
ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis
ClinVar Annotator: match by OMIM:613101
OMIM
ClinVar
PMID:19804848 PMID:19884660 PMID:20558610 PMID:20798128 PMID:20823128 PMID:21881043 PMID:22336081 PMID:22451424 PMID:22791290 PMID:23382066 PMID:23687090 PMID:24033266 PMID:24194549 PMID:24916509 PMID:25564401 PMID:25741868 PMID:26451869 PMID:27209435 PMID:27379089 PMID:27577878 PMID:27781387 PMID:28353193 PMID:28380445 PMID:28399723 PMID:28492532 PMID:29599780 PMID:30899265 NCBI chr12:2,180,101...2,191,863
Ensembl chr12:2,180,150...2,191,175
JBrowse link
G Tgfbr3l transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,540,494...2,545,315
Ensembl chr12:2,542,612...2,545,740
JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,517,006...2,533,707
Ensembl chr12:2,517,006...2,533,706
JBrowse link
G Trappc5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,228,670...2,232,973
Ensembl chr12:2,228,670...2,232,214
JBrowse link
G Xab2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 ClinVar PMID:28492532 NCBI chr12:2,158,391...2,170,397
Ensembl chr12:2,158,389...2,170,504
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 chr13:78,723,028...78,794,663
Ensembl chr13:78,722,763...78,789,266
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 PMID:26684649 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
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 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
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:10835631 PMID:12058346 PMID:12531900 PMID:12648328 PMID:15163896 PMID:15475639 PMID:16278825 PMID:18397837 PMID:19030707 PMID:19953648 PMID:23160464 PMID:24033266 PMID:25071262 PMID:25312756 PMID:25500851 PMID:25544030 PMID:25741868 PMID:25901543 PMID:26880764 PMID:27016801 PMID:28492532 PMID:29357941 PMID:29522846 PMID:30697212 PMID:32860008 NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
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 9:98,072,965...98,108,429
Ensembl chr 9:98,073,038...98,108,433
JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by null ClinVar PMID:12148598 PMID:12897212 NCBI chr 8:82,038,966...82,156,507
Ensembl chr 8:82,037,977...82,156,617
JBrowse link
hemophagocytic lymphohistiocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator acetyltransferase complex subunit 1 ISS MouseDO NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
JBrowse link
G Ido1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
JBrowse link
G Il18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Prf1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISS MouseDO NCBI chr 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
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:11336668 PMID:15071507 PMID:15731174 PMID:18223550 PMID:19953608 PMID:24033266 PMID:25741868 PMID:25917813 PMID:26122175 PMID:28492532 NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
JBrowse link
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar NCBI chr 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: Histiocytic medullary reticulosis ClinVar PMID:25741868
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 PMID:11908269 PMID:11971977 PMID:15908971 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17572155 PMID:18056378 PMID:19830075 PMID:20956421 PMID:21131235 PMID:21664875 PMID:24033266 PMID:24290284 PMID:25741868 PMID:25869295 PMID:25976673 PMID:26186701 PMID:27609655 PMID:28492532 PMID:28769923 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16960852 PMID:17572155 PMID:18025461 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:19470080 PMID:19912631 PMID:20234091 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21625022 PMID:22295088 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:25707801 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26915675 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29772310 PMID:30305145 PMID:30307608 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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:9545394 PMID:16118898 PMID:16155931 PMID:16650224 PMID:17461801 PMID:18414213 PMID:18940313 PMID:18947330 PMID:19175903 PMID:19336477 PMID:19889517 PMID:20140240 PMID:20595384 PMID:20619369 PMID:21178579 PMID:21888995 PMID:22238637 PMID:22653152 PMID:22875837 PMID:23406517 PMID:23530176 PMID:24172204 PMID:24894595 PMID:25741868 PMID:25963354 PMID:27143505 PMID:27364927 PMID:28492532 PMID:28554179 PMID:29041934 PMID:29751792 PMID:29808591 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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 chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
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 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISS MouseDO NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
G Npc2 NPC intracellular cholesterol transporter 2 ISO
ISS
MouseDO PMID:11567215 RGD:1601483 NCBI chr 6:108,467,410...108,488,330
Ensembl chr 6:108,467,410...108,488,330
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 PMID:12631268, PMID:12556236 RGD:1601336 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
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 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 NCBI chr 1:170,387,625...170,411,263
Ensembl chr 1:170,387,609...170,404,056
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 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8664904 PMID:8680412 PMID:9042807 PMID:9266408 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15612058 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16264060 PMID:16434659 PMID:16472269 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23757202 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25301364 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26851525 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:27865842 PMID:28255779 PMID:28302345 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30788890 PMID:30795770 PMID:31122880 PMID:31139477 PMID:32375665 PMID:32860008 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
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 PMID:18815062 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201 NCBI chr 1:170,387,625...170,411,263
Ensembl chr 1:170,387,609...170,404,056
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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 PMID:1885770 PMID:2023926 PMID:7762557 PMID:8051942 PMID:8053910 PMID:8401540 PMID:8407868 PMID:8499909 PMID:8680412 PMID:9042807 PMID:9266408 PMID:10694919 PMID:12369017 PMID:12556236 PMID:12607113 PMID:12712061 PMID:14681755 PMID:15221801 PMID:15234149 PMID:15241805 PMID:15545621 PMID:15557261 PMID:15653433 PMID:15877209 PMID:16010684 PMID:16151905 PMID:16264060 PMID:16434659 PMID:16642440 PMID:17011332 PMID:17360762 PMID:17876723 PMID:18052040 PMID:18625664 PMID:18815062 PMID:19050888 PMID:19405096 PMID:19411774 PMID:20111001 PMID:20386867 PMID:21098024 PMID:21228398 PMID:21454466 PMID:21502868 PMID:22367733 PMID:22796693 PMID:22818240 PMID:23188845 PMID:23252888 PMID:23356216 PMID:23412609 PMID:23415435 PMID:23418865 PMID:23430512 PMID:23430884 PMID:23430949 PMID:23535491 PMID:23871123 PMID:24033266 PMID:24446175 PMID:24718843 PMID:24767253 PMID:25144372 PMID:25741868 PMID:25811928 PMID:25834946 PMID:25920558 PMID:25933391 PMID:26046366 PMID:26049896 PMID:26084044 PMID:26169695 PMID:26320887 PMID:26377108 PMID:26499107 PMID:26550340 PMID:26790753 PMID:26913189 PMID:26981555 PMID:26990548 PMID:27238910 PMID:27338287 PMID:27349982 PMID:27435900 PMID:27659707 PMID:27725636 PMID:27814975 PMID:28255779 PMID:28475290 PMID:28492532 PMID:28590786 PMID:28600779 PMID:28703315 PMID:28801223 PMID:29140481 PMID:29556840 PMID:29966168 PMID:29995201 PMID:30788890 PMID:30795770 PMID:31122880 PMID:31139477 PMID:32375665 PMID:32860008 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
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 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
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 PMID:25764212 PMID:27792009 PMID:28492532 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Lipa lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Niemann-Pick disease type C1 ClinVar PMID:12606733 PMID:15635083 PMID:15987719 PMID:16140997 PMID:16557584 PMID:17219385 PMID:17368238 PMID:18506705 PMID:18534194 PMID:19032956 PMID:19394335 PMID:19732775 PMID:22266422 PMID:22865608 PMID:23035301 PMID:23108399 PMID:23561487 PMID:24691292 PMID:24728327 PMID:25741868 PMID:26467025 PMID:27829682 PMID:28492532 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
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 C
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 PMID:9245994 PMID:9634529 PMID:9802331 PMID:9927649 PMID:10419504 PMID:10480349 PMID:10521290 PMID:10521297 PMID:11182931 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11545687 PMID:11754101 PMID:12205649 PMID:12401890 PMID:12408188 PMID:12554680 PMID:12719428 PMID:12813037 PMID:12955717 PMID:12974729 PMID:14639697 PMID:15130691 PMID:15347664 PMID:15459971 PMID:15465421 PMID:15596783 PMID:15774455 PMID:15937921 PMID:16086131 PMID:16098014 PMID:16126423 PMID:16138904 PMID:16778374 PMID:16802107 PMID:17003072 PMID:17160617 PMID:17973331 PMID:17989072 PMID:18081003 PMID:18216017 PMID:19013089 PMID:19206179 PMID:19223215 PMID:19252935 PMID:19307542 PMID:19563754 PMID:19609713 PMID:19718781 PMID:19744920 PMID:19900398 PMID:20489167 PMID:20521171 PMID:20525256 PMID:20554533 PMID:20718790 PMID:20826119 PMID:20882348 PMID:20981092 PMID:21245028 PMID:21436030 PMID:21550990 PMID:22065762 PMID:22216111 PMID:22269206 PMID:22326530 PMID:22476655 PMID:22505584 PMID:22676771 PMID:22704015 PMID:22750297 PMID:22995991 PMID:23142039 PMID:23146215 PMID:23183285 PMID:23427322 PMID:23430855 PMID:23433426 PMID:23453666 PMID:23593294 PMID:23597521 PMID:23653225 PMID:23757202 PMID:23773996 PMID:23774949 PMID:23791518 PMID:23821321 PMID:24001525 PMID:24033266 PMID:24035292 PMID:24386122 PMID:24506780 PMID:24570279 PMID:24676439 PMID:24767253 PMID:24891511 PMID:24915861 PMID:25131710 PMID:25149939 PMID:25236789 PMID:25239094 PMID:25326635 PMID:25326637 PMID:25349751 PMID:25425405 PMID:25637190 PMID:25741868 PMID:25764212 PMID:25989649 PMID:26019327 PMID:26108224 PMID:26206375 PMID:26255038 PMID:26284228 PMID:26338816 PMID:26666848 PMID:26790753 PMID:26830282 PMID:26910362 PMID:26937389 PMID:26939636 PMID:26981555 PMID:26984608 PMID:27139891 PMID:27193329 PMID:27238017 PMID:27250337 PMID:27256227 PMID:27366019 PMID:27378690 PMID:27528516 PMID:27549128 PMID:27581084 PMID:27706244 PMID:27792009 PMID:27900365 PMID:27928380 PMID:27959697 PMID:28105569 PMID:28130309 PMID:28155026 PMID:28167839 PMID:28193631 PMID:28222799 PMID:28328115 PMID:28480683 PMID:28492532 PMID:28703315 PMID:28802248 PMID:29100954 PMID:29197565 PMID:29453517 PMID:30119649 PMID:30153451 PMID:30285904 PMID:30923329 PMID:31699992 PMID:32860008 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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 PMID:15937921 PMID:16757520 PMID:17470133 PMID:19252935 PMID:21084287 PMID:22073306 PMID:23352160 PMID:23433426 PMID:23773996 PMID:24386122 PMID:24767253 PMID:25038260 PMID:25236789 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26666848 PMID:27792009 PMID:28095804 PMID:28492532 PMID:28808920 NCBI chr 6:108,467,410...108,488,330
Ensembl chr 6:108,467,410...108,488,330
JBrowse link
G Rmc1 regulator of MON1-CCZ1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C ClinVar NCBI chr18:3,597,210...3,617,160
Ensembl chr18:3,597,240...3,617,283
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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 PMID:25741868 PMID:25764212 PMID:27792009 PMID:28492532 NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
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 PMID:15465422 PMID:15937921 PMID:16126423 PMID:16757520 PMID:17470133 PMID:18772377 PMID:19252935 PMID:21084287 PMID:22073306 PMID:22676771 PMID:23352160 PMID:23433426 PMID:23773996 PMID:23791309 PMID:24082139 PMID:24386122 PMID:24767253 PMID:25038260 PMID:25236789 PMID:25326635 PMID:25558065 PMID:25741868 PMID:25764212 PMID:25772320 PMID:26206375 PMID:26666848 PMID:27792009 PMID:28095804 PMID:28105569 PMID:28492532 PMID:28808920 NCBI chr 6:108,467,410...108,488,330
Ensembl chr 6:108,467,410...108,488,330
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 PMID:16778374 PMID:20718790 PMID:25741868 PMID:28492532 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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 PMID:15241805 PMID:15877209 PMID:17011332 PMID:17360762 PMID:23412609 PMID:23430949 PMID:28492532 NCBI chr 1:170,383,682...170,387,525
Ensembl chr 1:170,383,682...170,387,524
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 chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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 8:79,722,334...79,776,228
Ensembl chr 8:79,722,334...79,776,221
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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 chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      immune system disease 2954
        lymphatic system disease 1102
          histiocytosis 60
            Familial Lipochrome Histiocytosis 0
            Langerhans-cell histiocytosis + 1
            Progressive Mucinous Histiocytosis 0
            histiocytosis-lymphadenopathy plus syndrome 1
            malignant histiocytic disease + 6
            non-Langerhans-cell histiocytosis + 53
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          lymphatic system disease 1102
            histiocytosis 60
              Familial Lipochrome Histiocytosis 0
              Langerhans-cell histiocytosis + 1
              Progressive Mucinous Histiocytosis 0
              histiocytosis-lymphadenopathy plus syndrome 1
              malignant histiocytic disease + 6
              non-Langerhans-cell histiocytosis + 53
paths to the root