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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Muscular Dystrophies (D009136)
..Starting node ..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy with Cataract (C563849)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Bassoe syndrome (C537661)
..Bethlem myopathy (C535436)
..Distal Myopathies (D049310) 11
..Filaminopathy, autosomal dominant (C537932)
..Glycogen Storage Disease Type VII (D006014)
..Muscular Dystrophies, Limb-Girdle (D049288) 33
..Muscular dystrophy congenital, merosin negative (C537384)
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Muscular Dystrophy, Barnes Type (C563558)
..Muscular Dystrophy, Cardiac Type (C563247)
..Muscular Dystrophy, Congenital, 1B (C565748)
..Muscular Dystrophy, Congenital, 1C (C564691)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..Muscular Dystrophy, Congenital, Lmna-Related (C567708)
..Muscular Dystrophy, Congenital, Megaconial Type (C566527)
..Muscular Dystrophy, Congenital, Merosin-Positive (C563716)
..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..Muscular Dystrophy, Congenital, Type 1D (C563844)
..Muscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..Muscular Dystrophy, Congenital, with Rapid Progression (C564983)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Facioscapulohumeral (D020391) 4
..Muscular Dystrophy, Mabry Type (C564096)
..Muscular Dystrophy, Oculopharyngeal (D039141) 1
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Myopathy, Myofibrillar, Desmin-Related (C563319)
..Myopathy, Myofibrillar, Zasp-Related (C563718)
..Myotonic Dystrophy (D009223) 1
..Oculopharyngodistal Myopathy (C563508)
..Rigid spine syndrome (C535683)
..Scleroatonic muscular dystrophy (C537521)
..Vacuolar Neuromyopathy (C566617)
..Walker-Warburg Syndrome (D058494) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7520
Name:	Muscular Dystrophy, Congenital, plus Mental Retardation
Definition:
Alternative IDs:
ParentIDs:	MESH:D008607\|MESH:D009136
TreeNumbers:	C05.651.534.500/C565505 \|C10.597.606.643/C565505 \|C10.668.491.175.500/C565505 \|C16.320.577/C565505 \|C23.888.592.604.646/C565505 \|F03.550.600/C565505
Synonyms:
Slim Mappings:	Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C565505 MeSH: C565505 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants