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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:Polyarteritis Nodosa, Childhood-Onset
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Accession:DOID:9008412 term browser browse the term
Definition:Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some patients present with clinical immunodeficiency. VAIHS is caused by homozygous or compound heterozygous mutation in the ADA2 gene (CECR1) on chromosome 22q11. (OMIM)
Synonyms:exact_synonym: ADA2 Deficiency;   ADENOSINE DEAMINASE 2 DEFICIENCY;   DADA2;   PAN;   VAIHS;   VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
 broad_synonym: DEFICIENCY OF ADENOSINE DEAMINASE 2
 related_synonym: POLYARTERITIS NODOSA, CHILDHOOOD-ONSET
 primary_id: MIM:615688
 xref: EFO:0009295


show annotations for term's descendants           Sort by:
Polyarteritis Nodosa, Childhood-Onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,588,137...82,645,832
Ensembl chr11:96,092,451...96,150,163 		JBrowse link
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,022,358...154,044,486
Ensembl chr 4:155,694,534...155,716,678 		JBrowse link
G Bcl2l13 Bcl2-like 13 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,056,116...154,112,890
Ensembl chr 4:155,728,284...155,781,158 		JBrowse link
G Bid BH3 interacting domain death agonist ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:155,785,366...155,808,775
Ensembl chr 4:155,785,377...155,808,275 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:95,663,881...95,664,588 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:95,689,919...95,714,981 		JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:155,562,727...155,666,741 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:95,717,172...95,718,598
Ensembl chr11:95,717,176...95,719,322 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:96,597,197...96,648,786 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,927,725...82,932,823
Ensembl chr11:96,432,024...96,437,255 		JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:96,580,169...96,590,146 		JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:95,936,961...96,011,931 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,378,216...82,379,393 JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:96,575,600...96,578,412 		JBrowse link
G Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,701,026...153,753,303
Ensembl chr 4:155,390,916...155,425,601 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:95,528,831...95,638,549 		JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:155,339,400...155,362,382 		JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:155,824,946...156,005,238 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:95,637,712...95,643,586 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:156,086,960...156,099,093 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,910,043...82,927,305
Ensembl chr11:96,414,224...96,433,418 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:95,873,864...95,883,737 		JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:96,560,041...96,565,052 		JBrowse link
G Slc25a18 solute carrier family 25 member 18 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,000,808...154,021,373
Ensembl chr 4:155,673,169...155,693,548 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:96,150,266...96,196,881 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
G Tmem121b transmembrane protein 121B ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:153,695,191...153,700,104
Ensembl chr 4:155,355,267...155,373,376 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:96,590,864...96,592,219 JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:156,111,964...156,141,436 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:96,024,324...96,072,475 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:95,665,972...95,689,434 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:156,143,815...156,171,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      skin disease 4336
        vascular skin disease 251
          polyarteritis nodosa 39
            Polyarteritis Nodosa, Childhood-Onset 33
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              vascular skin disease 251
                polyarteritis nodosa 39
                  Polyarteritis Nodosa, Childhood-Onset 33
paths to the root