VISS Syndrome - CISMeF

Preferred Label : VISS Syndrome;

NCIt synonyms : Vascular Aneurysm, Immune Dysregulation, Skeletal Anomalies, and Skin and Joint Laxity Syndrome;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the IPO8 gene, encoding importin-8. It is a generalized connective tissue disorder resulting in skin laxity, vascular aneurysms, immune dysregulation, and skeletal anomalies.;

NCI Metathesaurus CUI : CL1783752;

Details

Origin ID

C198610;

UMLS CUI

C5561955;

Currated CISMeF NLP mapping
- Viss syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Viss syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- IPO8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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