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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:autoimmune lymphoproliferative syndrome
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Accession:DOID:6688 term browser browse the term
Definition:Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.
Synonyms:exact_synonym: ALPS;   Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant;   Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant;   Autoimmune Lymphoproliferative Syndromes;   Canale Smith syndromes;   Canale-Smith syndrome
 narrow_synonym: ALPS1A;   ALPS1B;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE;   AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB
 primary_id: MESH:D056735
 alt_id: OMIM:601859;   RDO:0001333
 xref: GARD:8686;   ICD10CM:D89.82;   ICD9CM:279.41;   NCI:C37864;   ORDO:3261
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autoimmune lymphoproliferative syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,430,750...252,461,346
Ensembl chr 1:252,429,677...252,461,461
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,807,062...252,811,409
Ensembl chr 1:252,807,065...252,808,380
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
DNA:mutations:cds:555C>T,889A>G(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601859
OMIM
ClinVar
CTD
PMID:4852259, PMID:7540117, PMID:9028321, PMID:9927496, PMID:10090885, PMID:10515860, PMID:10875918, PMID:12657942, PMID:15459303, PMID:15877736, PMID:16537120, PMID:17674358, PMID:20682655, PMID:20935634, PMID:21183795, PMID:21490157, PMID:21625619, PMID:22237435, PMID:23407489, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26942442, PMID:28492532, PMID:10200300, PMID:9028321, PMID:10497009 RGD:12904015, RGD:12903983, RGD:12903956 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO ClinVar Annotator: match by OMIM:601859
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome
ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:17605793, PMID:25741868, PMID:28492532 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Ifit2 interferon-induced protein with tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,894,663...252,900,727
Ensembl chr 1:252,894,663...252,900,726
JBrowse link
G Ifit3 interferon-induced protein with tetratricopeptide repeats 3 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,906,234...252,911,377
Ensembl chr 1:252,906,234...252,911,382
JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,816,536...252,959,348
Ensembl chr 1:252,816,527...252,849,904
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,409,232...252,428,567
Ensembl chr 1:252,409,268...252,428,774
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:252,490,125...252,536,113
Ensembl chr 1:252,497,452...252,536,104
JBrowse link
autoimmune lymphoproliferative syndrome type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Caspase-8 deficiency
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2B
ClinVar
OMIM
PMID:12353035, PMID:15601643, PMID:15998955, PMID:17293864, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30267714 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C, delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar
PMID:11976687, PMID:23319571, PMID:23430113, PMID:23666743, PMID:25741868, PMID:28492532, PMID:30257684 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
autoimmune lymphoproliferative syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder
OMIM
ClinVar
PMID:2278970, PMID:3122217, PMID:3627975, PMID:7773929, PMID:8439212, PMID:12460918, PMID:15696205, PMID:15842656, PMID:16361624, PMID:16434492, PMID:16618717, PMID:17332249, PMID:17384584, PMID:17910045, PMID:18316791, PMID:18794081, PMID:19018267, PMID:19029981, PMID:19047918, PMID:19075190, PMID:19114683, PMID:19255327, PMID:19358724, PMID:19679400, PMID:19773371, PMID:20805368, PMID:20921462, PMID:20921465, PMID:20949522, PMID:20978259, PMID:21063026, PMID:21079152, PMID:21228335, PMID:21398618, PMID:21975775, PMID:22025163, PMID:22392911, PMID:22407852, PMID:22499344, PMID:22683711, PMID:22734028, PMID:23014527, PMID:23096712, PMID:23182985, PMID:23406027, PMID:24033266, PMID:24558511, PMID:25044103, PMID:25157968, PMID:25695684, PMID:25808193, PMID:26623049, PMID:28492532, PMID:29298116, PMID:31891627 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV OMIM
ClinVar
PMID:2407301, PMID:2674680, PMID:2989702, PMID:8120410, PMID:16291983, PMID:17332249, PMID:17517660, PMID:18375819, PMID:18390968, PMID:19657110, PMID:19775298, PMID:20130576, PMID:20179705, PMID:21079152, PMID:23414587, PMID:23431193, PMID:25157968, PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1a ClinVar PMID:4165068, PMID:4852259, PMID:7539157, PMID:7540117, PMID:8929361, PMID:9028321, PMID:9821419, PMID:9927496, PMID:10090885, PMID:10200300, PMID:10515860, PMID:10709732, PMID:15459302, PMID:20935634, PMID:21490157, PMID:23407489, PMID:26942442, PMID:28492532 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Faslg Fas ligand ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type 1b ClinVar PMID:8787672, PMID:25741868 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
Autoimmune Lymphoproliferative Syndrome, Type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V
ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION
OMIM
ClinVar
PMID:25213377, PMID:25329329, PMID:25741868, PMID:26478010, PMID:26884280, PMID:27102614, PMID:27577878, PMID:27908448, PMID:28492532, PMID:28960754, PMID:29077208, PMID:29225858, PMID:29305966, PMID:29729943, PMID:30048690, PMID:30250467, PMID:30326257, PMID:30443250, PMID:30940614 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V ClinVar PMID:28492532, PMID:29729943, PMID:30326257 NCBI chr 9:67,290,004...67,370,208
Ensembl chr 9:67,293,309...67,341,341
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        lymphoproliferative syndrome 678
          autoimmune lymphoproliferative syndrome 20
            Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive 0
            Autoimmune Lymphoproliferative Syndrome, Type IA 1
            Autoimmune Lymphoproliferative Syndrome, Type IB 1
            Autoimmune Lymphoproliferative Syndrome, Type V 4
            Dianzani Autoimmune Lymphoproliferative Syndrome 0
            autoimmune lymphoproliferative syndrome type 2A 0
            autoimmune lymphoproliferative syndrome type 2B 1
            autoimmune lymphoproliferative syndrome type 3 1
            autoimmune lymphoproliferative syndrome type 4 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Immune & Inflammatory Diseases 3513
        immune system disease 2927
          Immunoproliferative Disorders 686
            lymphoproliferative syndrome 678
              autoimmune lymphoproliferative syndrome 20
                Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive 0
                Autoimmune Lymphoproliferative Syndrome, Type IA 1
                Autoimmune Lymphoproliferative Syndrome, Type IB 1
                Autoimmune Lymphoproliferative Syndrome, Type V 4
                Dianzani Autoimmune Lymphoproliferative Syndrome 0
                autoimmune lymphoproliferative syndrome type 2A 0
                autoimmune lymphoproliferative syndrome type 2B 1
                autoimmune lymphoproliferative syndrome type 3 1
                autoimmune lymphoproliferative syndrome type 4 2
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.