Viss syndrome - CISMeF

Preferred Label : Viss syndrome;

Symbol : VISS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity;

Prefixed ID : #619472;

Details

Origin ID

619472;

UMLS CUI

C5561955;

Currated CISMeF NLP mapping
- VISS Syndrome [NCIt concept]
Genes related to phenotype
- Importin 8 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormal branching pattern of the aortic arch [HPO term]
- Alopecia [HPO term]
- Aortic root aneurysm [HPO term]
- Aortic tortuosity [HPO term]
- Arachnodactyly [HPO term]
- Arterial tortuosity [HPO term]
- Ascending tubular aorta aneurysm [HPO term]
- Asthma [HPO term]
- Atopic dermatitis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid tongue [HPO term]
- Bifid uvula [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Broad uvula [HPO term]
- Bruising susceptibility [HPO term]
- Butterfly vertebrae [HPO term]
- Carotid artery dilatation [HPO term]
- Carotid artery tortuosity [HPO term]
- Celiac disease [HPO term]
- Chronic constipation [HPO term]
- Chronic diarrhea [HPO term]
- Chronic gastritis [HPO term]
- Cleft soft palate [HPO term]
- Congenital onset [HPO term]
- Contracture of the proximal interphalangeal joint of the 2nd toe [HPO term]
- Coronary sinus enlargement [HPO term]
- Cupped ear [HPO term]
- Cutis laxa [HPO term]
- Decreased circulating IgA level [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- Dilatation of the cerebral artery [HPO term]
- Dolichocephaly [HPO term]
- Double outlet right ventricle [HPO term]
- Drug allergy [HPO term]
- Duodenitis [HPO term]
- Dysphagia [HPO term]
- Dyspnea [HPO term]
- Ectropion [HPO term]
- Eczema [HPO term]
- Emphysema [HPO term]
- Epidural hemorrhage [HPO term]
- Exostosis of the external auditory canal [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Fetal distress [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized joint laxity [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- High myopia [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hip dislocation [HPO term]
- Hip dysplasia [HPO term]
- Hirsutism [HPO term]
- Hydronephrosis [HPO term]
- Hypereosinophilia [HPO term]
- Hyperextensible skin [HPO term]
- Hypertelorism [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Iliac artery aneurysm [HPO term]
- Increased circulating IgE level [HPO term]
- Increased circulating IgG level [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Joint hypermobility [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Left aortic arch with retroesophageal right subclavian artery [HPO term]
- Long palpebral fissure [HPO term]
- Long toe [HPO term]
- Low-set ears [HPO term]
- Macroglossia [HPO term]
- Macrotia [HPO term]
- Malposition of the stomach [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microretrognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Pneumothorax [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent superficial blood vessels [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary artery aneurysm [HPO term]
- Recurrent joint dislocation [HPO term]
- Retinal detachment [HPO term]
- Retrognathia [HPO term]
- Right ventricular dilatation [HPO term]
- Right ventricular hypertrophy [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Sparse scalp hair [HPO term]
- Submucous cleft soft palate [HPO term]
- Talipes equinovarus [HPO term]
- Tortuous cerebral arteries [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- VISS Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients