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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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Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Sneddon syndrome 0
Path 2
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  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        Neurologic Manifestations 10284
          sensory system disease 7183
            skin disease 4190
              vascular skin disease 249
                Sneddon syndrome 0
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