Marcus gunn phenomenon

Preferred Label : Marcus gunn phenomenon;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Maxillopalpebral synkinesis; JAW-WINKING;

Description : The Marcus Gunn phenomenon consists of unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. Although it usually persists into adult life, the phenomenon is seen in its most marked forms in infancy when the rapid spasmodic movements of the lid are apparent during sucking and thus are noted soon after birth (Doco-Fenzy et al., 2006).;

Inheritance : Autosomal dominant;

Prefixed ID : 154600;

Details

Origin ID

154600;

UMLS CUI

C0266521;

Automatic exact mappings (from CISMeF team)
- Jaw-winking syndrome (disorder) [SNOMED CT concept]
- Marcus-Gunn ptosis [PASCAL descriptor]
- Marcus-Gunn syndrome [ICD-11 Sub-sub category]
Currated CISMeF NLP mapping
- Marcus Gunn phenomenon [MeSH concept]
- Marcus Gunn syndrome [MedDRA Preferred Term]
- Marcus-Gunn syndrome [ORDO Disease]
- jaw-winking syndrome [DO Concept]
- marcus gunn phenomenon [MeSH Supplementary Concept]
- maxillopalpebral synkinesis [Disease (Nov.)]
DO Cross reference
- jaw-winking syndrome [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital ptosis [HPO term]
- Unilateral ptosis [HPO term]
ORDO concept(s)
- Marcus-Gunn syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Abnormal innervation syndrome of eyelid [MedDRA LLT]
- Abnormal innervation syndrome of eyelid [ICD-9 code]
- Jaw winking [LOINC component]
- Jaw-blinking (disorder) [SNOMED CT concept]
- Jaw-winking syndrome (disorder) [SNOMED CT concept]
- Marcus Gunn jaw winking synkinesis [HPO term]
- Marcus Gunn phenomenon [MeSH concept]
- Marcus Gunn syndrome [MedDRA Preferred Term]
- Marcus-Gunn syndrome [ORDO Disease]
- jaw-blinking [SNOMED Notion]
- jaw-winking syndrome [SNOMED Notion]
- jaw-winking syndrome [DO Concept]
- marcus gunn phenomenon [MeSH Supplementary Concept]
- maxillopalpebral synkinesis [Disease (Nov.)]

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