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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

Disease Browser
Parent Node: Atrophy (D001284)
Parent Node: Neuromuscular Manifestations (D020879)
..Starting node ..Muscular Atrophy (D009133)
Child Nodes:
........Allan-Herndon-Dudley syndrome (C537047)
........Arnold Stickler Bourne syndrome (C537431)
........Facial Dysmorphism with Multiple Malformations (C565579)
........Furukawa Takagi Nakao syndrome (C538193)
........Lethal Congenital Contractural Syndrome 3 (C566961)
........MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
........Miyoshi Muscular Dystrophy 2 (C567646)
........Miyoshi Muscular Dystrophy 3 (C567645)
........Miyoshi myopathy (C537480)
........Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
........Muscular Atrophy, Malignant Neurogenic (C563559)
........Nathalie syndrome (C538342)
........Primrose syndrome (C536420)
........Sarcopenia (D055948)
........Thakker Donnai syndrome (C536503)
........Wieacker syndrome (C536703)
Sister Nodes:
..Fasciculation (D005207) 1
..Muscle Cramp (D009120) 3
..Muscle Hypertonia (D009122) 24
..Muscle Hypotonia (D009123) 30
..Muscle Weakness (D018908) 5
..Muscular Atrophy (D009133) 16
..Myokymia (D020385) 5
..Myotonia (D009222) 2
..Spasm (D013035) 8
..Tetany (D013746)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7497
Name:	Muscular Atrophy
Definition:	Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
Alternative IDs:
ParentIDs:	MESH:D001284\|MESH:D020879
TreeNumbers:	C10.597.613.612 \|C23.300.070.500 \|C23.888.592.608.612
Synonyms:	Atrophies, Muscle \|Atrophies, Muscular \|Atrophies, Neurogenic Muscular \|Atrophies, Neurotrophic Muscular \|Atrophy, Muscle \|Atrophy, Muscular \|Atrophy, Neurogenic Muscular \|Atrophy, Neurotrophic Muscular \|Muscle Atrophies \|Muscle Atrophy \|Muscular Atrophies \|Muscula
Slim Mappings:	Nervous system disease\|Pathology (anatomical condition)\|Signs and symptoms
Reference:	MedGen: D009133 MeSH: D009133 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants