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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: Brain Diseases (D001927)
Parent Node: Vision Disorders (D014786)
..Starting node ..Amblyopia (D000550)
Child Nodes:
........Hemifacial Hyperplasia With Strabismus (C564199)
........Mental and Growth Retardation with Amblyopia (C563591)
Sister Nodes:
..Alice in Wonderland Syndrome (D062026)
..Amblyopia (D000550) 2
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Blindness (D001766) 39
..Color Vision Defects (D003117) 11
..Creutzfeldt-Jakob Disease, Heidenhain Variant (C566981)
..Diplopia (D004172)
..Enhanced S-Cone Syndrome (C564835)
..Hemianopsia (D006423)
..Night Blindness (D009755) 14
..Photophobia (D020795) 2
..Scotoma (D012607) 1
..Siegler Brewer Carey syndrome (C537335)
..SPATIAL VISUALIZATION, APTITUDE FOR (OMIM:313000)
..Susac Syndrome (D055955)
..Vision, Low (D015354)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	525
Name:	Amblyopia
Definition:	A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications.
Alternative IDs:
ParentIDs:	MESH:D001927\|MESH:D014786
TreeNumbers:	C10.228.140.055 \|C10.597.751.941.073 \|C11.966.073 \|C23.888.592.763.941.073
Synonyms:	Amblyopia, Anisometropic \|Amblyopia, Developmental \|Amblyopias \|Amblyopias, Anisometropic \|Amblyopias, Developmental \|Amblyopias, Stimulus Deprivation-Induced \|Amblyopias, Suppression \|Amblyopia, Stimulus Deprivation Induced \|Amblyopia, Stimulus Deprivation-Indu
Slim Mappings:	Eye disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D000550 MeSH: D000550 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants