Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandMyopia (D009216)
Parent Node:
expandOphthalmoplegia (D009886)
..Starting node
..expandOphthalmoplegia, External, and Myopia (C564087)

       Child Nodes:



 Sister Nodes: 
..expandAdenine Nucleotide Translocator Deficiency (C566309)
..expandCANOMAD syndrome (C537980)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandHamano Tsukamoto syndrome (C535625)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandMinicore Myopathy with External Ophthalmoplegia (C564969)
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..expandOcular Myopathy with Curare Sensitivity (C564937)
..expandOculomelic amyoplasia (C537737)
..expandOculootoradial syndrome (C535544)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOphthalmoplegia, Familial Static (C563500)
..expandOphthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..expandOphthalmoplegic Migraine (D060486)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
..expandSupranuclear Palsy, Progressive (D013494) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandWieacker syndrome (C536703)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8254
Name:Ophthalmoplegia, External, and Myopia
Definition:
Alternative IDs:OMIM:311000
ParentIDs:MESH:D009216|MESH:D009886|MESH:D040181
TreeNumbers:C10.292.562.750/C564087 |C10.597.622.447/C564087 |C11.590.472/C564087 |C11.744.636/C564087 |C16.320.322/C564087 |C23.888.592.636.447/C564087
Synonyms:Myopia-Ophthalmoplegia Syndrome |OPEM
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C564087
MeSH: C564087
OMIM: 311000;

Genes:
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0007686Abnormal pupillary function
3 HP:0003438Absent Achilles reflex
4 HP:0006844Absent patellar reflexes
5 HP:0200065Chorioretinal degeneration
6 HP:0000545Myopia
7 HP:0000602Ophthalmoplegia
8 HP:0000508Ptosis
9 HP:0000546Retinal degeneration
10 HP:0002414Spina bifida
Disease Causing ClinVar Variants