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Ontology Browser

Parent Terms Term With Siblings Child Terms
monogenic disease +     
Alport syndrome +   
amyotrophic lateral sclerosis +   
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
autosomal genetic disease +   
Bartter disease +   
basal laminar drusen  
Brugada syndrome +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
chondrodysplasia punctata +   
ciliopathy +   
cone-rod dystrophy +   
Congenital Arthrogryposis with Anterior Horn Cell Disease  
Cornelia de Lange syndrome +   
corticosteroid-binding globulin deficiency  
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1Z  
epidural abscess 
erythrokeratodermia variabilis +   
familial hemophagocytic lymphohistiocytosis 5  
familial nephrotic syndrome +   
Fanconi anemia complementation group F  
Fanconi anemia complementation group G  
Fanconi anemia complementation group J  
Fanconi anemia complementation group N  
fetal akinesia deformation sequence syndrome +   
Frontotemporal Lobar Degeneration +   
gene duplication disease +   
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
isolated microphthalmia 4  
lambda 5 deficiency 
lateral sclerosis  
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
motor neuritis +   
Motor Neuron Disease with Dementia and Ophthalmoplegia 
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
multiple pterygium syndrome +   
multisystem proteinopathy 
myelitis +   
myelomeningocele +   
nonparalytic poliomyelitis 
Noonan syndrome +   
Opitz-GBBB syndrome +   
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
poliomyelitis +   
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
primary cerebellar degeneration +   
primary congenital glaucoma +   
Primary Lateral Sclerosis Juvenile  
progressive bulbar palsy +   
progressive muscular atrophy  
pseudobulbar palsy +   
Ritscher-Schinzel syndrome +   
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
Spinal Cord Injuries +   
Spinal Cord Neoplasms +   
Spinal Cord Vascular Diseases +   
Spinal Intradural Arachnoid Cysts 
spinal muscular atrophy +   
Stiff-Person syndrome  
Subacute Combined Degeneration  
syringomyelia +   
tabes dorsalis +  
tertiary neurosyphilis +  
tethered spinal cord syndrome 
vascular myelopathy 
X-linked monogenic disease +   
Y-linked monogenic disease +   

Exact Synonyms: ALS ;   AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL ;   Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1 ;   Amyotrophic Lateral Sclerosis With Dementia ;   Amyotrophic Lateral Sclerosis, Parkinsonism Dementia Complex of Guam ;   Amyotrophic Lateral Sclerosis, Sporadic ;   Charcot Disease ;   Gehrig Disease ;   Gehrig's Disease ;   Gehrigs Disease ;   Guam Disease ;   Guam Form of Amyotrophic Lateral Sclerosis ;   Lou Gehrig Disease ;   Lou Gehrig's Disease ;   Lou-Gehrigs disease ;   amyotrophic lateral sclerosis, Guam form ;   bulbar motor neuron disease ;   motor neuron disease, amyotrophic lateral sclerosis
Related Synonyms: AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO ;   Amyotrophic Lateral Sclerosis In Males, Susceptibility To ;   Amyotrophic Lateral Sclerosis, Susceptibility To
Primary IDs: MESH:D000690
Alternate IDs: RDO:0000042 ;   RDO:0014685
Xrefs: GARD:5786 ;   ICD10CM:G12.21 ;   ICD9CM:335.20 ;   NCI:C34373 ;   OMIM:PS105400 ;   ORDO:803
Definition Sources: "DO", "DO", MESH:D000690

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.