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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Developmental Disease +     
myopathy +     
physical disorder +     
agnathia-otocephaly complex  
Alcohol Myopathy  
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  
centronuclear myopathy +   
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 +   
congenital myopathy +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
Congenital, Hereditary, and Neonatal Diseases and Abnormalities +   
cryptophthalmia +   
developmental cardiac valvular defect  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
fetal akinesia deformation sequence syndrome +   
gastroschisis +   
hypospadias +   
imperforate anus +   
King Denborough syndrome  
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 
mitochondrial myopathy +   
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Multiple Epiphyseal Dysplasia with Myopathy 
muscular atrophy +   
muscular dystrophy +   
Myoectodermal Gonadal Dysgenesis Syndrome  
myofascial pain syndrome +   
myofibrillar myopathy +   
myoglobinuria +   
Myopathy due to Malate-Aspartate Shuttle Defect 
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY  
myopathy of extraocular muscle +   
myopathy with extrapyramidal signs  
Myopathy with Giant Abnormal Mitochondria 
Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
myositis +   
Myostitis 
neural tube defect +   
Neurodevelopmental Disorders +   
neurogenic scapuloperoneal syndrome Kaeser type  
Neutral Lipid Storage Disease with Myopathy  
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
omphalocele  
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Poland syndrome 
polydactyly +   
polymyalgia rheumatica  
primary congenital glaucoma +   
RADIO-TARTAGLIA SYNDROME  
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
RAUCH-STEINDL SYNDROME  
Reducing Body Myopathies +   
rhabdomyolysis-myalgia syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
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 
Tubular Aggregate Myopathies +   
VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES  
visceral heterotaxy +   
VISS syndrome  
X-linked myopathy with excessive autophagy  
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
Primary IDs: MESH:D020914
Alternate IDs: OMIA:001374
Xrefs: NCI:C84648
Definition Sources: MESH:D020914

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