Arterial tortuosity syndrome

Preferred Label : Arterial tortuosity syndrome;

Symbol : ATORS;

CISMeF acronym : ATS; ATORS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Arterial tortuosity; ATS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 10 gene (SLC2A10, 606145.0001);

Prefixed ID : #208050;

Details

Origin ID

208050;

UMLS CUI

C1859726;

Automatic exact mappings (from CISMeF team)
- Anti-Thymocyte Globulin [NCIt concept]
- Arizona Tobacco Survey [NCIt concept]
- Arterial tortuosity [HPO term]
- At - dosing instruction fragment (qualifier value) [SNOMED CT concept]
- At increased risk for noncompliance (finding) [SNOMED CT concept]
- Atypical Timothy syndrome [ORDO Disease]
- BTK wt Allele [NCIt concept]
- COL4A5 wt Allele [NCIt concept]
- Long QT Syndrome 7 [NCIt concept]
- antithyroid agents [MeSH Descriptor]
- atherosclerosis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Arterial tortuosity syndrome [ICD-11 More detail]
- Arterial tortuosity syndrome [MedDRA Preferred Term]
- Arterial tortuosity syndrome [ORDO Disease]
- Arterial tortuosity syndrome (disorder) [SNOMED CT concept]
- arterial tortuosity syndrome [DO Concept]
- arterial tortuosity syndrome [MeSH concept]
- arterial tortuosity syndrome [MeSH Supplementary Concept]
DO Cross reference
- arterial tortuosity syndrome [DO Concept]
False automatic mappings
- Austria [NCIt concept]
Genes related to phenotype
- Solute carrier family 2 (facilitated glucose transporter), member 10 [OMIM gene]
HPO term(s)
- Abnormal thrombosis [HPO term]
- Aortic regurgitation [HPO term]
- Aortic root aneurysm [HPO term]
- Aortic tortuosity [HPO term]
- Aortic valve stenosis [HPO term]
- Arachnodactyly [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Blepharophimosis [HPO term]
- Bruising susceptibility [HPO term]
- Carotid artery dissection [HPO term]
- Childhood onset [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital onset [HPO term]
- Convex nasal ridge [HPO term]
- Cutis laxa [HPO term]
- Downslanted palpebral fissures [HPO term]
- Flexion contracture [HPO term]
- Generalized arterial tortuosity [HPO term]
- Generalized hypotonia [HPO term]
- Hiatus hernia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperextensible skin [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Ischemic stroke [HPO term]
- Joint hypermobility [HPO term]
- Joint laxity [HPO term]
- Juvenile onset [HPO term]
- Keratoconus [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Macrotia [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Neonatal onset [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Progeroid facial appearance [HPO term]
- Pulmonary artery stenosis [HPO term]
- Scoliosis [HPO term]
- Short palpebral fissure [HPO term]
- Soft skin [HPO term]
- Soft, doughy skin [HPO term]
- Telangiectases of the cheeks [HPO term]
- Thin skin [HPO term]
- Umbilical hernia [HPO term]
- Ventricular hypertrophy [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Arterial tortuosity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arterial tortuosity syndrome [ORDO Disease]
- Arterial tortuosity syndrome [ICD-11 More detail]
- Arterial tortuosity syndrome [MedDRA Preferred Term]
- Arterial tortuosity syndrome (disorder) [SNOMED CT concept]
- arterial tortuosity syndrome [MeSH Supplementary Concept]
- arterial tortuosity syndrome [MeSH concept]
- arterial tortuosity syndrome [DO Concept]

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