Facial paresis, hereditary congenital, 1

Preferred Label : Facial paresis, hereditary congenital, 1;

Symbol : HCFP1;

CISMeF acronym : HCFP1; MBS2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : MBS2; Facial palsy, congenital, unilateral or bilateral; Mobius syndrome 2; Moebius syndrome 2;

Description : Hereditary congenital facial paresis (HCFP) is the isolated dysfunction of the facial nerve (CN VII).;

Inheritance : Autosomal dominant;

Prefixed ID : %601471;

Détails

Origin ID

601471;

UMLS CUI

C1832284;

Currated CISMeF NLP mapping
- Isolated hereditary congenital facial paralysis [ORDO Disease]
- Isolated hereditary congenital facial paralysis (disorder) [SNOMED CT concept]
- facial palsy, congenital, unilateral or bilateral [MeSH concept]
- facial palsy, congenital, unilateral or bilateral [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased corneal reflex [HPO term]
- Facial palsy [HPO term]
- Heterogeneous [HPO term]
- Nonprogressive [HPO term]
- Weakness of orbicularis oculi muscle [HPO term]
ORDO concept(s)
- Isolated hereditary congenital facial paralysis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated hereditary congenital facial paralysis [ORDO Disease]
- facial palsy, congenital, unilateral or bilateral [MeSH concept]

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