Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Blepharoptosis (D001763)
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Heart Defects, Congenital (D006330)
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Jaw Abnormalities (D007569)
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Nervous System Diseases (D009422)
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Reflex, Abnormal (D012021)
..Starting node
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Marcus Gunn phenomenon (C535908)

       Child Nodes:



 Sister Nodes: 
..expandBahemuka Brown syndrome (C537797)
..expandCAPOS syndrome (C535351)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandHyperekplexia and Epilepsy (C564474)
..expandMarcus Gunn phenomenon (C535908)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6785
Name:Marcus Gunn phenomenon
Definition:
Alternative IDs:
ParentIDs:MESH:D001763|MESH:D006330|MESH:D007569|MESH:D009422|MESH:D012021
TreeNumbers:C05.500.460/C535908 |C05.660.207.540.460/C535908 |C07.320.440/C535908 |C07.650.500.460/C535908 |C10.597.704/C535908 |C10/C535908 |C11.338.204/C535908 |C14.240.400/C535908 |C14.280.400/C535908 |C16.131.240.400/C535908 |C16.131.621.207.540.460/C535908 |C16.131.850.50
Synonyms:Familial Marcus Gunn phenomenon |Jaw-winking |Maxillopalpebral synkinesis
Slim Mappings:Cardiovascular disease|Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C535908
MeSH: C535908
OMIM: 154600;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007970Congenital ptosis
3 HP:0007687Unilateral ptosis
Disease Causing ClinVar Variants