Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
myopathy +     
physical disorder +     
agnathia-otocephaly complex  
Alcohol Myopathy  
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
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 secretory chloride diarrhea 1  
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 +   
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
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 +   
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, 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 
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 +   
visceral heterotaxy +   
VISS syndrome  
X-linked myopathy with excessive autophagy  
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: Fiber Type Disproportion Myopathy, Congenital ;   MTM1 ;   Myotubular Myopathies ;   centronuclear myopathy, autosomal dominant ;   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

paths to the root