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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: Vision Disorders (D014786)
..Starting node ..Blindness (D001766)
Child Nodes:
........AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
........Amaurosis Fugax (D020757)
........Blindness, Cortical (D019575) 1
........Deaf-Blind Disorders (D054062) 26
........Hemianopsia (D006423)
........Microcephaly microphthalmos blindness (C537541)
........Norrie disease (C537849)
........Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
........Retinal Aplasia (C566720)
........Rodrigues blindness (C535865)
........Scoliosis, Arachnodactyly, And Blindness (C567309)
........Yemenite deaf-blind hypopigmentation syndrome (C536771)
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:	1323
Name:	Blindness
Definition:	The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
Alternative IDs:
ParentIDs:	MESH:D014786
TreeNumbers:	C10.597.751.941.162 \|C11.966.075 \|C23.888.592.763.941.162
Synonyms:	Acquired Blindness \|Amauroses \|Amaurosis \|Blindness, Acquired \|Blindness, Complete \|Blindness, Hysterical \|Blindness, Legal \|Blindness, Monocular \|Blindness, Transient \|Complete Blindness \|Hysterical Blindness \|Legal Blindness \|Monocular Blindness \|Transient Blindnes
Slim Mappings:	Eye disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D001766 MeSH: D001766 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants