Ivic syndrome - CISMeF

Preferred Label : Ivic syndrome;

Symbol : IVIC;

CISMeF acronym : OORS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oculootoradial syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sal-like 4 gene (SALL4, 607343.0013);

Prefixed ID : #147750;

Details

Origin ID

147750;

UMLS CUI

C1327918;

Currated CISMeF NLP mapping
- IVIC syndrome [Disease (Nov.)]
- IVIC syndrome [DO Concept]
- IVIC syndrome [ORDO Disease]
- Oculootoradial syndrome [MeSH concept]
- Oculootoradial syndrome (disorder) [SNOMED CT concept]
- oculootoradial syndrome [MeSH Supplementary Concept]
DO Cross reference
- IVIC syndrome [DO Concept]
Genes related to phenotype
- Sal-like 4 [OMIM gene]
HPO term(s)
- Absent thumb [HPO term]
- Anal atresia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carpal bone hypoplasia [HPO term]
- Carpal synostosis [HPO term]
- Congenital onset [HPO term]
- External ophthalmoplegia [HPO term]
- Frontal bossing [HPO term]
- Hearing impairment [HPO term]
- Hypoplasia of deltoid muscle [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Intestinal malrotation [HPO term]
- Leukocytosis [HPO term]
- Limited elbow movement [HPO term]
- Limited interphalangeal movement [HPO term]
- Limited wrist movement [HPO term]
- Mild thrombocytopenia [HPO term]
- Paroxysmal tonic upgaze [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectoralis major hypoplasia [HPO term]
- Preaxial polydactyly [HPO term]
- Radioulnar synostosis [HPO term]
- Rectovaginal fistula [HPO term]
- Scoliosis [HPO term]
- Short 1st metacarpal [HPO term]
- Short clavicles [HPO term]
- Short femur [HPO term]
- Short thumb [HPO term]
- Small thenar eminence [HPO term]
- Strabismus [HPO term]
- Tetralogy of Fallot [HPO term]
- Thrombocytopenia [HPO term]
- Triphalangeal thumb [HPO term]
- Upper limb undergrowth [HPO term]
- radial ray hypoplasia [HPO term]
ORDO concept(s)
- IVIC syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- IVIC syndrome [ORDO Disease]
- IVIC syndrome [Disease (Nov.)]
- IVIC syndrome [DO Concept]
- Oculootoradial syndrome [MeSH concept]
- Oculootoradial syndrome (disorder) [SNOMED CT concept]
- oculootoradial syndrome [MeSH Supplementary Concept]

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