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:
expandMitochondrial Diseases (D028361)
Parent Node:
expandMuscular Diseases (D009135)
Parent Node:
expandOphthalmoplegia (D009886)
..Starting node
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)

       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:8261
Name:Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
Definition:
Alternative IDs:
ParentIDs:MESH:D009135|MESH:D009886|MESH:D028361
TreeNumbers:C05.651/C564925 |C10.292.562.750/C564925 |C10.597.622.447/C564925 |C10.668.491/C564925 |C11.590.472/C564925 |C18.452.660/C564925 |C23.888.592.636.447/C564925
Synonyms:
Slim Mappings:Eye disease|Metabolic disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C564925
MeSH: C564925
OMIM: 258470;

Genes:
Phenotypes
1 HP:0001291Abnormal cranial nerve morphology
2 HP:0008316Abnormal mitochondria in muscle tissue
3 HP:0001324Muscle weakness
4 HP:0000602Ophthalmoplegia
5 HP:0000508Ptosis
Disease Causing ClinVar Variants