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Sneddon syndrome - Ontology Report - Rat Genome Database

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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:Sneddon syndrome
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Accession:DOID:13096 term browser browse the term
Definition:An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. (DO)
Synonyms:exact_synonym: Ehrmann-Sneddon syndrome;   SNDNS;   Sneddon Champion syndrome;   idiopathic livedo reticularis with systemic involvement;   livedo racemosa-cerebrovascular accident syndrome;   livedo reticularis and cerebrovascular accidents;   livedo reticularis, systemic involvement
 broad_synonym: DEFICIENCY OF ADENOSINE DEAMINASE 2
 primary_id: MESH:D018860
 alt_id: MIM:182410
 xref: EFO:1001186;   GARD:7664;   MONDO:0008436;   ORDO:820
For additional species annotation, visit the Alliance of Genome Resources.

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Sneddon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Deficiency of adenosine deaminase 2 | ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome OMIM
ClinVar		 PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:24552284 More... NCBI chrNW_004624735:10,023,330...10,052,600 JBrowse link
G P ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Deficiency of adenosine deaminase 2 | ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome OMIM
ClinVar		 PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:24552284 More... NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G S Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Deficiency of adenosine deaminase 2 | ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome OMIM
ClinVar		 PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:24552284 More... NCBI chrNW_004936807:232,851...262,593 JBrowse link
G D ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Deficiency of adenosine deaminase 2 | ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome OMIM
ClinVar		 PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:24552284 More... NCBI chr27:44,883,573...44,912,930
Ensembl chr27:44,884,882...44,912,850 		JBrowse link
G B ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Deficiency of adenosine deaminase 2 | ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome OMIM
ClinVar		 PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:24552284 More... NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949 		JBrowse link
G C Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Deficiency of adenosine deaminase 2 | ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome OMIM
ClinVar		 PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:24552284 More... NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
G H ADA2 adenosine deaminase 2 IAGP
EXP		 ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement | ClinVar Annotator: match by term: Livedo reticularis and cerebrovascular accidents | ClinVar Annotator: match by term: Sneddon syndrome
ClinVar Annotator: match by term: Deficiency of adenosine deaminase 2 | ClinVar Annotator: match by term: Sneddon syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:24552284 More... NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G N Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433 		JBrowse link
G G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359 		JBrowse link
G P NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344 		JBrowse link
G S Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429 		JBrowse link
G D NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219 		JBrowse link
G B NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080 		JBrowse link
G C Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710 		JBrowse link
G R Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G M Notch3 notch 3 ISO ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G H NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement ClinVar PMID:17879445 PMID:17879447 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Sneddon syndrome 17
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        Neurologic Manifestations 126178
          sensory system disease 89068
            skin disease 49602
              vascular skin disease 2809
                Sneddon syndrome 17
paths to the root