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:
expandDementia (D003704)
Parent Node:
expandMotor Neuron Disease (D016472)
Parent Node:
expandOphthalmoplegia (D009886)
..Starting node
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)

       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:7396
Name:Motor Neuron Disease with Dementia and Ophthalmoplegia
Definition:
Alternative IDs:
ParentIDs:MESH:D003704|MESH:D009886|MESH:D016472
TreeNumbers:C10.228.140.380/C563954 |C10.292.562.750/C563954 |C10.574.562/C563954 |C10.597.622.447/C563954 |C10.668.467/C563954 |C11.590.472/C563954 |C23.888.592.636.447/C563954 |F03.087.400/C563954
Synonyms:
Slim Mappings:Eye disease|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: C563954
MeSH: C563954
OMIM: 600333;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001939Abnormality of metabolism/homeostasis
3 HP:0002446Astrocytosis
4 HP:0002483Bulbar signs
5 HP:0002059Cerebral atrophy
6 HP:0008361Corticospinal tract pallor
7 HP:0002398Degeneration of anterior horn cells
8 HP:0000726Dementia
9 HP:0000602Ophthalmoplegia
10 HP:0002878Respiratory failure
11 HP:0002093Respiratory insufficiency
Disease Causing ClinVar Variants