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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:proteasome-associated autoinflammatory syndrome 1
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Accession:DOID:0050553 term browser browse the term
Definition:A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: ALDD;   CANDLE;   JMP syndrome;   NKJO;   Nakajo-Nishimura syndrome;   PRAAS1;   autoinflammation, lipodystrophy, and dermatosis syndrome;   chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome;   joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy
 narrow_synonym: proteasome-associated autoinflammatory syndrome 1, digenic
 primary_id: OMIM:256040
 xref: GARD:10988;   GARD:3916;   GARD:3917;   NCI:C176619;   ORDO:324999


show annotations for term's descendants           Sort by:
proteasome-associated autoinflammatory syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278 		JBrowse link
G Aif1 allograft inflammatory factor 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668 		JBrowse link
G Anks1a ankyrin repeat and sterile alpha motif domain containing 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,963,658...6,117,139
Ensembl chr20:5,963,678...6,117,148 		JBrowse link
G Apom apolipoprotein M ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,690,950...3,693,550
Ensembl chr20:3,688,413...3,693,550 		JBrowse link
G Armc12 armadillo repeat containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,587,859...6,598,355
Ensembl chr20:6,587,859...6,598,352 		JBrowse link
G Atf6b activating transcription factor 6 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,090,921...4,098,920
Ensembl chr20:4,090,921...4,098,894 		JBrowse link
G Atp6v1g2 ATPase H+ transporting V1 subunit G2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,587,681...3,591,309
Ensembl chr20:3,587,686...3,590,481 		JBrowse link
G B3galt4 Beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,936,089...4,937,664
Ensembl chr20:4,931,768...4,938,315 		JBrowse link
G Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Bltp3a bridge-like lipid transfer protein family member 3A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,910,261...5,954,641
Ensembl chr20:5,910,260...5,952,404 		JBrowse link
G Bnip5 BCL2 interacting protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,957,736...6,975,062
Ensembl chr20:6,956,201...6,975,091 		JBrowse link
G Brd2 bromodomain containing 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Brpf3 bromodomain and PHD finger containing, 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,864,684...6,902,760
Ensembl chr20:6,865,985...6,902,690 		JBrowse link
G Btnl2 butyrophilin-like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341 		JBrowse link
G C2 complement C2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C20h6orf15 similar to human chromosome 6 open reading frame 15 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,172,330...3,173,886
Ensembl chr20:3,172,330...3,173,886 		JBrowse link
G C20h6orf89 similar to human chromosome 6 open reading frame 89 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,322,483...7,362,054
Ensembl chr20:7,322,442...7,357,612 		JBrowse link
G C4a complement C4A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080 		JBrowse link
G C4b complement C4B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,197,371...4,211,684
Ensembl chr20:4,197,366...4,211,681 		JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdsn corneodesmosin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,179,432...3,184,252
Ensembl chr20:3,179,438...3,184,250 		JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Clic1 chloride intracellular channel 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712 		JBrowse link
G Clps colipase ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,620,529...6,622,709
Ensembl chr20:6,620,529...6,622,689 		JBrowse link
G Clpsl2 colipase-like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,608,128...6,610,951
Ensembl chr20:6,608,128...6,610,951 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Cpne5 copine 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,206,742...7,289,309
Ensembl chr20:7,206,742...7,288,883 		JBrowse link
G Csnk2b casein kinase 2 beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133 		JBrowse link
G Cuta cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,022,956...5,024,580
Ensembl chr20:5,022,956...5,024,552 		JBrowse link
G Daxx death-domain associated protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843 		JBrowse link
G Ddah2 DDAH family member 2, ADMA-independent ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,761,460...3,764,718
Ensembl chr20:3,761,465...3,764,511 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
G Ddx39b DExD-box helicase 39B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,547,702...3,585,064
Ensembl chr20:3,572,056...3,584,996 		JBrowse link
G Def6 DEF6 guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,268,579...6,290,030
Ensembl chr20:6,268,601...6,289,961 		JBrowse link
G Dxo decapping exoribonuclease ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,993,322...3,995,484
Ensembl chr20:3,993,327...3,995,494 		JBrowse link
G Egfl8 EGF-like-domain, multiple 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,132,930...4,136,024
Ensembl chr20:4,133,629...4,136,018 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547 		JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631 		JBrowse link
G Fkbp5 FKBP prolyl isomerase 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674 		JBrowse link
G Fkbpl FKBP prolyl isomerase like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,099,845...4,101,315
Ensembl chr20:4,099,806...4,101,368 		JBrowse link
G Flot1 flotillin 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978 		JBrowse link
G G4 G4 protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,693,691...3,696,194
Ensembl chr20:3,693,649...3,696,088 		JBrowse link
G Gpank1 G patch domain and ankyrin repeats 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,697,641...3,700,814
Ensembl chr20:3,697,641...3,700,858 		JBrowse link
G Gpsm3 G-protein signaling modulator 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,157,123...4,158,984
Ensembl chr20:4,157,123...4,159,035 		JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,481,124...5,572,821 		JBrowse link
G Gtf2h4 general transcription factor 2H subunit 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,071,328...3,076,990
Ensembl chr20:3,071,328...3,076,984 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752 		JBrowse link
G Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,826,725...4,828,742
Ensembl chr20:4,822,026...4,828,742 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571 		JBrowse link
G Ier3 immediate early response 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:2,928,378...2,929,582
Ensembl chr20:2,928,378...2,929,583 		JBrowse link
G Ilrun inflammation and lipid regulator with UBA-like and NBR1-like domains ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,809,931...5,876,197
Ensembl chr20:5,809,936...5,876,012 		JBrowse link
G Ip6k3 inositol hexakisphosphate kinase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,223,863...5,245,443
Ensembl chr20:5,224,120...5,245,428 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337 		JBrowse link
G Kctd20 potassium channel tetramerization domain containing 20 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,015,828...7,032,766
Ensembl chr20:7,015,833...7,032,761 		JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,998,832...5,017,107
Ensembl chr20:4,999,047...5,017,105 		JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532 		JBrowse link
G Lsm2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,843,467...3,847,217
Ensembl chr20:3,843,466...3,847,266 		JBrowse link
G Lst1 leukocyte specific transcript 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,634,680...3,639,731
Ensembl chr20:3,634,749...3,637,997 		JBrowse link
G Lta lymphotoxin alpha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Ltb lymphotoxin beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,627,536...3,629,381
Ensembl chr20:3,627,537...3,629,381 		JBrowse link
G Ly6g5b lymphocyte antigen 6 family member G5B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,705,464...3,707,830
Ensembl chr20:3,706,124...3,707,133 		JBrowse link
G Ly6g5c lymphocyte antigen 6 family member G5C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,709,426...3,713,940
Ensembl chr20:3,709,529...3,713,608 		JBrowse link
G Ly6g6c lymphocyte antigen 6 family member G6C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,753,632...3,757,205
Ensembl chr20:3,753,632...3,758,867 		JBrowse link
G Ly6g6d lymphocyte antigen 6 family member G6D ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,741,973...3,752,378
Ensembl chr20:3,737,459...3,752,248 		JBrowse link
G Ly6g6f lymphocyte antigen 6 family member G6F ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,737,459...3,742,327
Ensembl chr20:3,737,459...3,752,248 		JBrowse link
G Mapk13 mitogen activated protein kinase 13 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,835,277...6,845,500
Ensembl chr20:6,835,320...6,844,222 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Micb MHC class I polypeptide-related sequence B ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 1:78,495,779...78,513,030
Ensembl chr 1:78,495,779...78,512,827 		JBrowse link
G Mill1 MHC I like leukocyte 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr 1:78,372,798...78,398,932
Ensembl chr 1:78,372,802...78,398,930 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796 		JBrowse link
G Mln motilin ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,304,249...5,308,948
Ensembl chr20:5,304,249...5,308,948 		JBrowse link
G Mpig6b megakaryocyte and platelet inhibitory receptor G6b ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735 		JBrowse link
G Msh5 mutS homolog 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,773,867...3,793,337
Ensembl chr20:3,776,942...3,793,336 		JBrowse link
G Mtch1 mitochondrial carrier 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,389,942...7,413,426
Ensembl chr20:7,389,949...7,413,426 		JBrowse link
G Mucl3 mucin like 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569 		JBrowse link
G Ncr3 natural cytotoxicity triggering receptor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799 		JBrowse link
G Nelfe negative elongation factor complex member E ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355 		JBrowse link
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745 		JBrowse link
G Nfkbil1 NFKB inhibitor like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,589,974...3,608,348
Ensembl chr20:3,590,642...3,605,616 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Nudt3 nudix hydrolase 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,634,345...5,686,950
Ensembl chr20:5,634,349...5,686,874 		JBrowse link
G Pacsin1 protein kinase C and casein kinase substrate in neurons 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,718,134...5,768,064
Ensembl chr20:5,719,857...5,765,313 		JBrowse link
G Pbx2 PBX homeobox 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,151,500...4,156,425
Ensembl chr20:4,151,500...4,156,425 		JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,945,959...4,947,433
Ensembl chr20:4,945,959...4,947,433 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,017,765...5,022,872
Ensembl chr20:5,017,893...5,022,871 		JBrowse link
G Pi16 peptidase inhibitor 16 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,376,073...7,385,386
Ensembl chr20:7,376,126...7,385,383 		JBrowse link
G Pnpla1 patatin-like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375 		JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891 		JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968 		JBrowse link
G Ppil1 peptidylprolyl isomerase like 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,302,292...7,322,349
Ensembl chr20:7,302,621...7,322,354 		JBrowse link
G Ppt2 palmitoyl-protein thioesterase 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,112,520...4,132,774
Ensembl chr20:4,122,463...4,132,774 		JBrowse link
G Prrc2a proline-rich coiled-coil 2A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,658,391...3,674,143
Ensembl chr20:3,658,695...3,674,130 		JBrowse link
G Prrt1 proline-rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,117,957...4,121,643
Ensembl chr20:4,117,957...4,121,600 		JBrowse link
G Psma3 proteasome 20S subunit alpha 3 ISO ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC ClinVar PMID:21953331 PMID:26524591 NCBI chr 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965 		JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:26524591 NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746 		JBrowse link
G Psmb8 proteasome 20S subunit beta 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1		 OMIM
CTD
ClinVar		 PMID:8495043 PMID:20159315 PMID:20534754 PMID:21129723 PMID:21881205 More... NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Psors1c2 psoriasis susceptibility 1 candidate 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599 		JBrowse link
G Pxt1 peroxisomal testis enriched protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,002,270...7,005,296
Ensembl chr20:7,002,271...7,006,780 		JBrowse link
G Rab44 RAB44, member RAS oncogene family ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,164,576...7,198,473
Ensembl chr20:7,164,720...7,198,468 		JBrowse link
G Ralgdsl2 ral guanine nucleotide dissociation stimulator like 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,948,495...4,956,774
Ensembl chr20:4,948,497...4,969,911 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,830,120...4,833,623
Ensembl chr20:4,830,053...4,833,620 		JBrowse link
G Rnf5 ring finger protein 5 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,145,539...4,147,985
Ensembl chr20:4,145,507...4,147,985 		JBrowse link
G Rpl10a ribosomal protein L10A ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,388,800...6,391,358
Ensembl chr20:6,385,823...6,391,357 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,931,427...4,935,538
Ensembl chr10:101,204,500...101,205,146
Ensembl chr20:101,204,500...101,205,146 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Da RT1 class II, locus Da ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-DMa RT1 class II, locus DMa ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432 		JBrowse link
G RT1-DMb RT1 class II, locus DMb ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340 		JBrowse link
G RT1-DOa RT1 class II, locus DOa ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,753,587...4,756,590
Ensembl chr20:4,753,598...4,756,577 		JBrowse link
G RT1-DOb RT1 class II, locus DOb ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,619,418...4,625,627
Ensembl chr20:4,619,816...4,625,667 		JBrowse link
G RT1-Ha RT1 class II, locus Ha ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,816,813...4,823,267
Ensembl chr20:4,816,815...4,828,773 		JBrowse link
G Sapcd1 suppressor APC domain containing 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,793,980...3,795,767
Ensembl chr20:3,793,967...3,795,790 		JBrowse link
G Scube3 signal peptide, CUB domain and EGF like domain containing 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,199,182...6,231,100
Ensembl chr20:6,199,182...6,228,584 		JBrowse link
G Sfta2 surfactant associated 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,093,569...3,094,299
Ensembl chr20:3,093,565...3,094,299 		JBrowse link
G Skic2 SKI2 subunit of superkiller complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261 		JBrowse link
G Slc26a8 solute carrier family 26 member 8 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,686,206...6,749,478
Ensembl chr20:6,697,723...6,749,478 		JBrowse link
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537 		JBrowse link
G Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,903,099...3,919,215
Ensembl chr20:3,903,099...3,919,215 		JBrowse link
G Smim29 small integral membrane protein 29 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,618,845...5,620,856
Ensembl chr20:5,618,845...5,620,813 		JBrowse link
G Snrpc small nuclear ribonucleoprotein polypeptide C ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,888,453...5,906,638
Ensembl chr20:5,888,453...5,906,638 		JBrowse link
G Spdef SAM pointed domain containing ets transcription factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,771,440...5,785,893
Ensembl chr20:5,771,441...5,785,893 		JBrowse link
G Srpk1 SRSF protein kinase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,645,809...6,682,448
Ensembl chr20:6,645,809...6,682,134 		JBrowse link
G Srsf3 serine and arginine rich splicing factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,091,928...7,101,860
Ensembl chr20:7,091,910...7,101,078 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116 		JBrowse link
G Stk38 serine/threonine kinase 38 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:7,034,245...7,067,803
Ensembl chr20:7,034,242...7,068,198 		JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Taf11 TATA-box binding protein associated factor 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,955,774...5,963,593
Ensembl chr20:5,955,777...5,961,905 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,218,756...3,222,861
Ensembl chr20:3,218,693...3,223,271 		JBrowse link
G Tcp11 t-complex 11 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,126,267...6,138,408
Ensembl chr20:6,126,269...6,136,055 		JBrowse link
G Tead3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,392,053...6,411,446
Ensembl chr20:6,392,053...6,411,446 		JBrowse link
G Tnf tumor necrosis factor ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532
G Tsbp1 testis expressed basic protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,410,002...4,467,284
Ensembl chr20:4,410,004...4,457,053 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073 		JBrowse link
G Uqcc2 ubiquinol-cytochrome c reductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,202,837...5,214,541
Ensembl chr20:5,202,837...5,214,164 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,805,774...3,820,468
Ensembl chr20:3,805,776...3,820,298 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,077,132...3,087,994 		JBrowse link
G Vps52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,920,715...4,931,685
Ensembl chr20:4,860,843...4,931,665 		JBrowse link
G Vwa7 von Willebrand factor A domain containing 7 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,794,991...3,805,646
Ensembl chr20:3,794,991...3,805,525 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,937,845...4,945,796
Ensembl chr20:4,937,847...4,946,535 		JBrowse link
G Zbtb12 zinc finger and BTB domain containing 12 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:3,937,668...3,940,514 JBrowse link
G Zbtb22 zinc finger and BTB domain containing 22 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:4,966,331...4,969,853
Ensembl chr20:4,966,271...4,969,498 		JBrowse link
G Zbtb9 zinc finger and BTB domain containing 9 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:5,057,433...5,060,459
Ensembl chr20:5,057,434...5,062,819 		JBrowse link
G Zfp523 zinc finger protein 523 ISO ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 ClinVar PMID:28492532 NCBI chr20:6,234,884...6,266,512
Ensembl chr20:6,243,582...6,266,511 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      proteosome-associated autoinflammatory syndrome 163
        proteasome-associated autoinflammatory syndrome 1 160
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  proteosome-associated autoinflammatory syndrome 163
                    proteasome-associated autoinflammatory syndrome 1 160
paths to the root