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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
congenital myopathy +     
Developmental Disease +     
physical disorder +     
agnathia-otocephaly complex  
arthrogryposis multiplex congenita +   
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
bone development disease +   
caudal regression syndrome  
cleft palate-lateral synechia syndrome  
Compton-North congenital myopathy  
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 +   
congenital myopathy 10B  
Congenital Myopathy 11  
congenital myopathy 14  
congenital myopathy 15  
congenital myopathy 16  
congenital myopathy 17  
congenital myopathy 18  
congenital myopathy 19  
congenital myopathy 1A +   
congenital myopathy 1B  
congenital myopathy 20  
congenital myopathy 21  
congenital myopathy 22A  
congenital myopathy 22B  
Congenital myopathy 25  
congenital myopathy 2B  
congenital myopathy 2C  
congenital myopathy 4A +   
congenital myopathy 5  
congenital myopathy 6  
congenital myopathy 8  
congenital myopathy 9A  
congenital myopathy 9B  
Congenital Myopathy with Excess of Muscle Spindles  
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. (DO)
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
Congenital, Hereditary, and Neonatal Diseases and Abnormalities +   
cryptophthalmia +   
cylindrical spirals myopathy 
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
fetal akinesia deformation sequence syndrome +   
gastroschisis +   
hyaline body myopathy +   
hypospadias +   
imperforate anus +   
Klippel-Feil syndrome +   
Language Development Disorders +   
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 +   
myotonia congenita +   
Native American myopathy  
nemaline myopathy +   
neural tube defect +   
Neurodevelopmental Disorders +   
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 +   
RADIO-TARTAGLIA SYNDROME  
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
RAUCH-STEINDL SYNDROME  
renal-hepatic-pancreatic dysplasia +   
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  
Thrombocytopenia 8  
TORCH syndrome 
visceral heterotaxy +   
VISS syndrome  
Yoon-Bellen neurodevelopmental syndrome  
Zika virus congenital syndrome  

Synonyms
Exact Synonyms: MTM1 ;   Myotubular Myopathies ;   centronuclear myopathy, autosomal dominant ;   congenital fiber type disproportion myopathy ;   congenital non progressive myopathies ;   congenital non-progressive myopathy ;   congenital structural myopathies ;   myotubular myopathy ;   myotubular myopathy 1
Xrefs: MESH:D020914 ;   MONDO:0002921 ;   NCI:C84648 ;   OMIA:001374
Definition Sources: PMID:23897157 "DO" "DO"

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