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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.



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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 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:231,639,035...231,670,537
Ensembl chr 1:231,639,314...231,670,381
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Ch25h cholesterol 25-hydroxylase ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:232,014,877...232,016,195
Ensembl chr 1:232,014,880...232,016,195
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
RGD
PMID:2149015 PMID:4852259 PMID:7540117 PMID:9028321 PMID:9533447 More... RGD:12904015, RGD:12903983, RGD:12903956 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635
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 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307
JBrowse link
G Lipa lipase A, lysosomal acid type ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:232,024,351...232,167,329
Ensembl chr 1:232,024,356...232,057,633
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:231,618,145...231,637,599
Ensembl chr 1:231,618,284...231,637,410
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:21376533 RGD:13204846 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17517660 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome ClinVar PMID:28492532 NCBI chr 1:231,699,620...231,745,034
Ensembl chr 1:231,699,995...231,745,032
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:9536098 PMID:12353035 PMID:15601643 PMID:15998955 PMID:16199547 More... NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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:9536098 PMID:11976687 PMID:17576681 PMID:23319571 PMID:23430113 More... NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: RAS-associated autoimmune leukoproliferative disorder OMIM
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:8120410 PMID:16291983 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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 More... NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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 chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V
OMIM
ClinVar
PMID:8817351 PMID:9259273 PMID:9398726 PMID:9536098 PMID:10189842 More... NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferatiVe syndrome, type V
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type V
ClinVar PMID:11343122 PMID:12577056 PMID:19380800 PMID:28492532 PMID:29729943 More... NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      primary immunodeficiency disease 2712
        lymphoproliferative syndrome 777
          autoimmune lymphoproliferative syndrome 21
            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 2
            autoimmune lymphoproliferative syndrome type 4 2
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Immune & Inflammatory Diseases 4014
        immune system disease 3376
          Immunoproliferative Disorders 787
            lymphoproliferative syndrome 777
              autoimmune lymphoproliferative syndrome 21
                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 2
                autoimmune lymphoproliferative syndrome type 4 2
paths to the root