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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:non-Langerhans-cell histiocytosis
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Accession:DOID:4330 term browser browse the term
Definition:A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. (DO)
Synonyms:exact_synonym: Xanthoma Disseminatum
 primary_id: MESH:D015616
 xref: GARD:8231
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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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 chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465 		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 chr26:28,140,972...28,227,847
Ensembl chr26:28,197,464...28,227,963 		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:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More... NCBI chr 9:59,927,957...59,979,570
Ensembl chr 9:59,927,964...59,975,174 		JBrowse link
Familial Hemophagocytic Lymphohistiocytoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC ClinVar PMID:18179888 PMID:19377476 PMID:19687455 PMID:19716112 PMID:22523091 More... NCBI chr  X:111,160,389...111,226,713
Ensembl chr  X:111,211,911...111,226,841 		JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis | ClinVar Annotator: match by term: RETICULOSIS, FAMILIAL HISTIOCYTIC ClinVar PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 More... NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis ClinVar PMID:20486178 PMID:24033266 PMID:24459464 PMID:25741868 PMID:26004995 More... NCBI chr13:29,045,674...29,084,602
Ensembl chr13:29,048,119...29,048,982 		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:9536098 PMID:16199547 PMID:17576681 PMID:19804848 PMID:19884660 More... NCBI chr 6:7,123,564...7,133,459
Ensembl chr 6:7,123,597...7,133,460 		JBrowse link
G UNC13D unc-13 homolog D ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Familial histiocytic reticulosis ClinVar PMID:9536098 PMID:14622600 PMID:16278825 PMID:16778144 PMID:16825436 More... NCBI chr16:45,836,659...45,856,805
Ensembl chr16:45,838,175...45,857,201 		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 chr 9:60,867,810...60,894,899
Ensembl chr 9:60,874,602...60,894,919 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO associated with lymphocytic choriomeningitis
associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen, liver:		 RGD PMID:26518437 RGD:11343232 NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265 		JBrowse link
G IL33 interleukin 33 ISO associated with lymphocytic choriomeningitis;mRNA:increased expression:spleen: RGD PMID:26518437 RGD:11343232 NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436 		JBrowse link
G NODAL nodal growth differentiation factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr 9:60,852,567...60,863,225
Ensembl chr 9:60,853,763...60,862,839 		JBrowse link
G PALD1 phosphatase domain containing paladin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 ClinVar PMID:28492532 NCBI chr 9:60,722,357...60,835,496 JBrowse link
G PRF1 perforin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 2 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to OMIM
ClinVar		 PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465 		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 ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: UNC13D-related condition
DNA:deletions, insertion, snps:exons, intron:multiple (human)		 OMIM
ClinVar
RGD		 PMID:2978935 PMID:9536098 PMID:10459864 PMID:14622600 PMID:15466010 More... RGD:1600451 NCBI chr16:45,836,659...45,856,805
Ensembl chr16:45,838,175...45,857,201 		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:28492532 NCBI chr13:29,729,056...29,747,400
Ensembl chr13:29,729,604...29,749,435 		JBrowse link
G LTV1 LTV1 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr13:29,362,386...29,380,831
Ensembl chr13:29,361,750...29,380,911 		JBrowse link
G PEX3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr13:29,753,203...29,792,300
Ensembl chr13:29,751,233...29,792,247 		JBrowse link
G PHACTR2 phosphatase and actin regulator 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr13:29,401,562...29,702,719
Ensembl chr13:29,401,382...29,560,452 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr13:29,225,265...29,291,868
Ensembl chr13:29,283,405...29,291,868 		JBrowse link
G SF3B5 splicing factor 3b subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr13:29,144,964...29,145,699
Ensembl chr13:29,145,071...29,145,694 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: STX11-related condition OMIM
ClinVar		 PMID:15703195 PMID:16582076 PMID:17525286 PMID:19967551 PMID:20486178 More... NCBI chr13:29,045,674...29,084,602
Ensembl chr13:29,048,119...29,048,982 		JBrowse link
G ZC2HC1B zinc finger C2HC-type containing 1B ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 ClinVar PMID:28492532 NCBI chr13:29,293,916...29,362,293
Ensembl chr13:29,321,135...29,341,971 		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: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,085,113...7,104,133
Ensembl chr 6:7,085,282...7,103,885 		JBrowse link
G CCL25 C-C motif chemokine ligand 25 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,496,463...7,504,637 JBrowse link
G CD209 CD209 molecule ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,219,576...7,235,755
Ensembl chr 6:7,228,378...7,235,208 		JBrowse link
G CD320 CD320 molecule ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,666,201...7,673,088
Ensembl chr 6:7,665,895...7,673,599 		JBrowse link
G CERS4 ceramide synthase 4 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532
G CTXN1 cortexin 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,375,855...7,377,536
Ensembl chr 6:7,376,664...7,376,912 		JBrowse link
G ELAVL1 ELAV like RNA binding protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,419,489...7,448,917
Ensembl chr 6:7,414,757...7,448,445 		JBrowse link
G EVI5L ecotropic viral integration site 5 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,286,836...7,320,475
Ensembl chr 6:7,302,122...7,321,464 		JBrowse link
G FBN3 fibrillin 3 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,507,652...7,594,703 JBrowse link
G FCER2 Fc fragment of IgE receptor II ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,175,032...7,189,002
Ensembl chr 6:7,175,032...7,189,057 		JBrowse link
G LOC103233807 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chr 6:7,116,233...7,118,101
Ensembl chr 6:7,116,314...7,118,030 		JBrowse link
G LOC103233812 C-type lectin domain family 4 member G ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,206,303...7,211,213
Ensembl chr 6:7,206,712...7,209,431 		JBrowse link
G LRRC8E leucine rich repeat containing 8 VRAC subunit E ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,337,918...7,351,914
Ensembl chr 6:7,346,243...7,351,855 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398 		JBrowse link
G MCEMP1 mast cell expressed membrane protein 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,163,068...7,166,861
Ensembl chr 6:7,163,591...7,166,561 		JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,019,132...7,030,675
Ensembl chr 6:7,019,277...7,030,474 		JBrowse link
G PCP2 Purkinje cell protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:19804848 PMID:22451424 PMID:28492532 NCBI chr 6:7,118,091...7,123,489
Ensembl chr 6:7,116,214...7,119,967 		JBrowse link
G PNPLA6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,030,802...7,056,664
Ensembl chr 6:7,032,445...7,056,661 		JBrowse link
G RETN resistin ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,154,771...7,156,459
Ensembl chr 6:7,155,337...7,156,505 		JBrowse link
G SNAPC2 small nuclear RNA activating complex polypeptide 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,371,623...7,374,617
Ensembl chr 6:7,370,959...7,376,998 		JBrowse link
G STX11 syntaxin 11 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:15703195 NCBI chr13:29,045,674...29,084,602
Ensembl chr13:29,048,119...29,048,982 		JBrowse link
G STXBP2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 | ClinVar Annotator: match by term: STXBP2-related condition OMIM
ClinVar		 PMID:9536098 PMID:10788461 PMID:16199547 PMID:17576681 PMID:19804848 More... NCBI chr 6:7,123,564...7,133,459
Ensembl chr 6:7,123,597...7,133,460 		JBrowse link
G TGFBR3L transforming growth factor beta receptor 3 like ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,366,040...7,370,498 JBrowse link
G TIMM44 translocase of inner mitochondrial membrane 44 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,378,091...7,394,927
Ensembl chr 6:7,377,669...7,396,652 		JBrowse link
G TRAPPC5 trafficking protein particle complex subunit 5 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,167,402...7,169,455
Ensembl chr 6:7,168,854...7,169,420 		JBrowse link
G XAB2 XPA binding protein 2 ISO ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5 ClinVar PMID:28492532 NCBI chr 6:7,105,353...7,116,063
Ensembl chr 6:7,104,785...7,116,020 		JBrowse link
Familial Hemophagocytic Lymphohistiocytosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103230557 roquin-1 ISO ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 6 OMIM
ClinVar		 PMID:25741868 NCBI chr25:55,167,418...55,258,964
Ensembl chr25:55,167,077...55,279,088 		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 syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr26:28,140,972...28,227,847
Ensembl chr26:28,197,464...28,227,963 		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 term: MYO5A-related condition OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr26:30,865,947...31,085,184 JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCPG1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr26:28,029,124...28,076,609
Ensembl chr26:28,029,078...28,080,056 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr26:27,946,092...28,024,495 JBrowse link
G PIERCE2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr26:28,023,735...28,029,095
Ensembl chr26:28,023,603...28,028,929 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chr26:28,076,605...28,113,859
Ensembl chr26:28,076,819...28,113,784 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: PAID SYNDROME OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr26:28,140,972...28,227,847
Ensembl chr26:28,197,464...28,227,963 		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 term: MLPH-related condition OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr10:123,489,777...123,562,037
Ensembl chr10:123,491,702...123,562,906 		JBrowse link
G MYO5A myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr26:30,865,947...31,085,184 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 chr11:7,501,562...7,536,332
Ensembl chr11:7,501,150...7,536,295 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 ISO MouseDO NCBI chr12:30,620,685...30,687,583
Ensembl chr12:30,620,278...30,687,405 		JBrowse link
G HAVCR2 hepatitis A virus cellular receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30374066 NCBI chr23:59,479,794...59,501,532
Ensembl chr23:59,475,826...59,500,836 		JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:26914138 RGD:11529541 NCBI chr 8:37,930,910...37,950,790
Ensembl chr 8:37,930,562...37,946,505 		JBrowse link
G IL18 interleukin 18 ISO associated with Epstein-Barr Virus Infections;protein:increased expression:serum RGD PMID:20472718 RGD:8655917 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G PRF1 perforin 1 ISO associated with Lymphocytic Choriomeningitis RGD PMID:20049711 RGD:6482810 NCBI chr 9:60,692,544...60,698,000
Ensembl chr 9:60,692,600...60,698,465 		JBrowse link
G RAB27A RAB27A, member RAS oncogene family ISO MouseDO NCBI chr26:28,140,972...28,227,847
Ensembl chr26:28,197,464...28,227,963 		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 chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734 		JBrowse link
G APBB1 amyloid beta precursor protein binding family B member 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease ClinVar PMID:1391960 PMID:1885770 PMID:2023926 PMID:12369017 PMID:15221801 More... NCBI chr 1:58,407,323...58,431,551
Ensembl chr 1:58,421,847...58,431,144 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO DNA:mutation:multiple RGD
MouseDO		 PMID:11567215 RGD:1601483 NCBI chr24:51,685,699...51,700,557
Ensembl chr24:51,685,609...51,700,557 		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
ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency		 RGD
ClinVar		 PMID:1391960 PMID:1885770 PMID:2023926 PMID:8053910 PMID:8664904 More... RGD:1601336 NCBI chr 1:58,431,677...58,436,233
Ensembl chr 1:58,432,068...58,436,236 		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:12369017 PMID:15221801 More... NCBI chr 1:58,407,323...58,431,551
Ensembl chr 1:58,421,847...58,431,144 		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 chr22:40,574,569...40,925,857
Ensembl chr22:40,574,374...40,926,842 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr24:51,685,699...51,700,557
Ensembl chr24:51,685,609...51,700,557 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr 1:58,431,677...58,436,233
Ensembl chr 1:58,432,068...58,436,236 		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:12369017 PMID:15221801 More... NCBI chr 1:58,407,323...58,431,551
Ensembl chr 1:58,421,847...58,431,144 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:10480349 PMID:10521290 PMID:10521297 PMID:11349231 PMID:11754101 More... NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis ClinVar PMID:25741868 NCBI chr24:51,685,699...51,700,557
Ensembl chr24:51,685,609...51,700,557 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis OMIM
ClinVar		 PMID:1301192 PMID:1391960 PMID:1618760 PMID:1718266 PMID:1840600 More... NCBI chr 1:58,431,677...58,436,233
Ensembl chr 1:58,432,068...58,436,236 		JBrowse link
Niemann-Pick disease type C1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD3 abhydrolase domain containing 3, phospholipase ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,795,497...58,842,714
Ensembl chr18:58,795,865...58,842,824 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase treatment ISO RGD PMID:18591368 RGD:10047095 NCBI chr12:7,258,932...7,435,658
Ensembl chr12:7,256,648...7,312,734 		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 chr24:52,267,734...52,283,724 JBrowse link
G ANKRD29 ankyrin repeat domain 29 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:56,879,788...56,943,189
Ensembl chr18:56,880,636...56,944,306 		JBrowse link
G CABLES1 Cdk5 and Abl enzyme substrate 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:57,253,843...57,378,969
Ensembl chr18:57,257,081...57,378,855 		JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:25326637 PMID:28492532 NCBI chr10:74,509,704...74,659,251
Ensembl chr10:74,507,772...74,659,366 		JBrowse link
G CTAGE1 cutaneous T cell lymphoma-associated antigen 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,092,734...58,100,018
Ensembl chr18:58,093,110...58,099,989 		JBrowse link
G ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,887,158...58,957,605
Ensembl chr18:58,900,663...58,956,545 		JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,960,397...59,104,188
Ensembl chr18:58,963,914...59,103,993 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G LAMA3 laminin subunit alpha 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:56,580,245...56,851,381
Ensembl chr18:56,580,700...56,850,451 		JBrowse link
G LIPA lipase A, lysosomal acid type ISO CTD Direct Evidence: therapeutic CTD PMID:20557099 NCBI chr 9:82,639,220...82,677,479
Ensembl chr 9:82,638,621...82,677,488 		JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,628,381...58,759,692
Ensembl chr18:58,633,926...58,759,609 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form
ClinVar Annotator: match by term: NPC1-related condition | ClinVar Annotator: match by term: Niemann-Pick disease, subacute juvenile form | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, adult form | ClinVar Annotator: match by term: Niemann-Pick disease, type C1, juvenile form		 OMIM
ClinVar		 PMID:3165081 PMID:3378364 PMID:4795418 PMID:5465421 PMID:9211849 More... NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		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 chr24:51,685,699...51,700,557
Ensembl chr24:51,685,609...51,700,557 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:57,501,070...57,617,301
Ensembl chr18:57,501,271...57,597,670 		JBrowse link
G RIOK3 RIO kinase 3 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:57,048,500...57,078,770
Ensembl chr18:57,048,447...57,078,312 		JBrowse link
G RMC1 regulator of MON1-CCZ1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:25741868 PMID:28492532 NCBI chr18:57,007,889...57,036,438
Ensembl chr18:57,007,974...57,036,231 		JBrowse link
G SMPD1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:12369017 PMID:15221801 PMID:25741868 PMID:26499107 PMID:27243974 More... NCBI chr 1:58,431,677...58,436,233
Ensembl chr 1:58,432,068...58,436,236 		JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:28492532 NCBI chr18:58,860,447...58,876,216
Ensembl chr18:58,858,822...58,876,198 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:21176403 RGD:10403054 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		JBrowse link
G SYNDIG1L synapse differentiation inducing 1 like ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:25741868 NCBI chr24:51,617,631...51,638,382
Ensembl chr24:51,617,437...51,638,659 		JBrowse link
G TMEM241 transmembrane protein 241 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C1 ClinVar PMID:9211850 PMID:20718790 PMID:28492532 NCBI chr18:57,088,629...57,238,430
Ensembl chr18:57,088,994...57,171,912 		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:12955717 PMID:15937921 PMID:23352160 PMID:23773996 PMID:24386122 More... NCBI chr24:52,267,734...52,283,724 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 ClinVar PMID:25741868 NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		JBrowse link
G NPC2 NPC intracellular cholesterol transporter 2 ISO ClinVar Annotator: match by term: Niemann-Pick disease, type C2 OMIM
ClinVar		 PMID:9536098 PMID:11125141 PMID:11333381 PMID:11567215 PMID:12447927 More... NCBI chr24:51,685,699...51,700,557
Ensembl chr24:51,685,609...51,700,557 		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
OMIM		 PMID:9245994 PMID:9634529 PMID:11333381 PMID:11545687 PMID:12401890 More... NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474 		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 1:58,431,677...58,436,233
Ensembl chr 1:58,432,068...58,436,236 		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 ClinVar Annotator: match by term: Sea-blue histiocyte syndrome | ClinVar Annotator: match by term: Sea-blue histiocytosis ClinVar
OMIM		 PMID:8488843 PMID:8750611 PMID:9279208 PMID:9360638 PMID:9603433 More... NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		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 chr 9:59,927,957...59,979,570
Ensembl chr 9:59,927,964...59,975,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      immune system disease 4600
        lymphatic system disease 1642
          histiocytosis 90
            non-Langerhans-cell histiocytosis 82
              Erdheim-Chester disease 0
              Niemann-Pick disease + 26
              Sinus Histiocytosis + 1
              adult xanthogranuloma 0
              hemophagocytic lymphohistiocytosis + 54
              juvenile xanthogranuloma 0
              multicentric reticulohistiocytosis 0
              reticulohistiocytic granuloma 0
              sea-blue histiocytosis 1
Path 2
Term Annotations click to browse term
  disease 15412
    disease of anatomical entity 15076
      Immune & Inflammatory Diseases 5126
        immune system disease 4600
          lymphatic system disease 1642
            histiocytosis 90
              non-Langerhans-cell histiocytosis 82
                Erdheim-Chester disease 0
                Niemann-Pick disease + 26
                Sinus Histiocytosis + 1
                adult xanthogranuloma 0
                hemophagocytic lymphohistiocytosis + 54
                juvenile xanthogranuloma 0
                multicentric reticulohistiocytosis 0
                reticulohistiocytic granuloma 0
                sea-blue histiocytosis 1
paths to the root