Fourth cranial nerve palsy, familial congenital

Preferred Label : Fourth cranial nerve palsy, familial congenital;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Strabismus from superior oblique palsy; Trochlear nerve palsy, familial congenital; Superior oblique oculomotor palsy, familial congenital;

Inheritance : Autosomal dominant;

Prefixed ID : 136480;

Details

Origin ID

136480;

UMLS CUI

C1850996;

Currated CISMeF NLP mapping
- Familial congenital palsy of trochlear nerve [ORDO Disease]
- Familial congenital palsy of trochlear nerve (disorder) [SNOMED CT concept]
- fourth cranial nerve palsy, familial congenital [MeSH concept]
- fourth cranial nerve palsy, familial congenital [MeSH Supplementary Concept]
HPO term(s)
- Abnormal visual fixation [HPO term]
- Abnormality of binocular vision [HPO term]
- Autosomal dominant inheritance [HPO term]
- Fourth cranial nerve palsy [HPO term]
- Impaired ocular adduction [HPO term]
- Superior oblique muscle weakness [HPO term]
ORDO concept(s)
- Familial congenital palsy of trochlear nerve [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial congenital palsy of trochlear nerve [ORDO Disease]
- Familial congenital palsy of trochlear nerve (disorder) [SNOMED CT concept]
- fourth cranial nerve palsy, familial congenital [MeSH Supplementary Concept]
- fourth cranial nerve palsy, familial congenital [MeSH concept]

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