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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 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: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:16937360, 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:21303357, 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:23690113, 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:26605207, 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 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 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
PMID:31636267 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 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:15071507, PMID:15731174, 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 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: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: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 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:1885770, PMID:2023926, PMID:7762557, PMID:8051942, PMID:8053910, PMID:8401540, PMID:8407868, 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: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: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, PMID:30311386 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:9425535, 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:22572546, 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:30311386, PMID:30923329, 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, PMID:30311386 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, PMID:30311386 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, PMID:30311386 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 16045
    disease of anatomical entity 15292
      immune system disease 2921
        lymphatic system disease 1094
          histiocytosis 58
            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 + 51
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Immune & Inflammatory Diseases 3504
        immune system disease 2921
          lymphatic system disease 1094
            histiocytosis 58
              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 + 51
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.