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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
agnathia-otocephaly complex  
arthrogryposis multiplex congenita +   
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
botulism +  
caudal regression syndrome  
cleft palate-lateral synechia syndrome  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia  
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma  
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (DO)
congenital myopathy +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cryptophthalmia +   
developmental cardiac valvular defect  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
gastroschisis +   
hypospadias +   
imperforate anus +   
Klippel-Feil syndrome +   
Lambert-Eaton myasthenic syndrome  
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
Meckel's diverticulum 
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
myasthenia gravis +   
neural tube defect +   
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
omphalocele  
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Poland syndrome 
polydactyly +   
primary congenital glaucoma +   
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
visceral heterotaxy +   
Zika virus congenital syndrome 
 Autoimmune Limb-Girdle Myasthenia 
 Compton-North congenital myopathy  
 Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors 
 congenital myasthenic syndrome 10  
 congenital myasthenic syndrome 11  
 congenital myasthenic syndrome 12  
 congenital myasthenic syndrome 13  
 congenital myasthenic syndrome 14  
 congenital myasthenic syndrome 15  
 congenital myasthenic syndrome 16  
 congenital myasthenic syndrome 17  
 congenital myasthenic syndrome 18  
 congenital myasthenic syndrome 19  
 congenital myasthenic syndrome 1A  
 congenital myasthenic syndrome 20  
 congenital myasthenic syndrome 21  
 congenital myasthenic syndrome 22  
 Congenital Myasthenic Syndrome 23  
 Congenital Myasthenic Syndrome 24  
 Congenital Myasthenic Syndrome 25  
 congenital myasthenic syndrome 2A  
 congenital myasthenic syndrome 2C  
 congenital myasthenic syndrome 3A  
 congenital myasthenic syndrome 3B  
 congenital myasthenic syndrome 3C  
 congenital myasthenic syndrome 4A  
 congenital myasthenic syndrome 4C  
 congenital myasthenic syndrome 5  
 congenital myasthenic syndrome 6  
 congenital myasthenic syndrome 7  
 congenital myasthenic syndrome 8  
 congenital myasthenic syndrome 9  
 Congenital Myasthenic Syndrome, Fast-Channel +   
 Congenital Myasthenic Syndrome, with Facial Dysmorphism 
 Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
 Limb-Girdle Myasthenia, with Tubular Aggregates 
 Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive  

Synonyms
Exact Synonyms: congenital myasthenia ;   congenital myasthenia gravi ;   congenital myasthenia gravis ;   congenital myasthenic syndrome, dominant/recessive ;   congenital myasthenic syndromes ;   congenital slow channel myasthenic syndromes ;   congenital slow-channel myasthenic syndrome ;   familial limb-girdle myasthenia ;   postsynaptic congenital myasthenic syndromes ;   presynaptic congenital myasthenic syndromes
Narrow Synonyms: congenital myasthenic syndrome, CHRNE-related ;   congenital myasthenic syndrome, due to CHRNE ;   congenital myasthenic syndrome, recessive
Primary IDs: MESH:D020294
Alternate IDs: OMIA:000685
Xrefs: EFO:0020041 ;   GARD:11902 ;   NCI:C84647 ;   OMIM:PS601462 ;   OMIM:PS610542 ;   ORDO:590
Definition Sources: http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 "DO" "DO"

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