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Ontology Browser
Term:
congenital muscular dystrophy with intellectual disability (EFO:MONDO:0018278)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
ALG14-congenital disorder of glycosylation +  
autosomal recessive limb-girdle muscular dystrophy type 2P 
congenital disorder of glycosylation type I +  
congenital disorder of glycosylation type II +  
congenital disorder of glycosylation with defective fucosylation 
congenital disorder of glycosylation, type Ibb 
congenital disorder of glycosylation, type Iw, autosomal dominant 
congenital muscular dystrophy with cerebellar involvement 
congenital muscular dystrophy with intellectual disability 
congenital muscular dystrophy with intellectual disability and severe epilepsy 
congenital muscular dystrophy without intellectual disability 
developmental and epileptic encephalopathy, 55 
disorder of multiple glycosylation +  
disorder of protein N-glycosylation +  
disorder of protein O-glycosylation +  
DPM3-congenital disorder of glycosylation +  
Ehlers-Danlos syndrome, musculocontractural type 
glycosylphosphatidylinositol biosynthesis defect 15 
glycosylphosphatidylinositol biosynthesis defect 16 
glycosylphosphatidylinositol biosynthesis defect 17 
glycosylphosphatidylinositol biosynthesis defect 18 
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +  
Larsen-like syndrome, B3GAT3 type 
muscle-eye-brain disease with bilateral multicystic leucodystrophy 
muscular dystrophy-dystroglycanopathy, type A +  
muscular dystrophy-dystroglycanopathy, type B +  
muscular dystrophy-dystroglycanopathy, type C +  
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 
progressive myoclonic epilepsy type 3 
schneckenbecken dysplasia 
seizures-scoliosis-macrocephaly syndrome 
temtamy preaxial brachydactyly syndrome 
XYLT1-congenital disorder of glycosylation 

Synonyms
Exact Synonyms: CMD with intellectual disability ;   CMD-MR
Alternate IDs: MONDO:0018278
Xrefs: GARD:17606 ;   MEDGEN:1683413 ;   ORDO:370968 ;   UMLS:C5190846

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