Disease browser and phenotype portal

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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: Eye Diseases (D005128)
Parent Node: Sensation Disorders (D012678)
..Starting node ..Vision Disorders (D014786)
Child 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)
Sister Nodes:
..Dizziness (D004244) 1
..Hearing Disorders (D006311) 403
..Olfaction Disorders (D000857) 4
..Posterior column ataxia (C536342)
..Somatosensory Disorders (D020886) 6
..Taste Disorders (D013651) 3
..Vision Disorders (D014786) 84
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11619
Name:	Vision Disorders
Definition:	Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).
Alternative IDs:
ParentIDs:	MESH:D005128\|MESH:D012678
TreeNumbers:	C10.597.751.941 \|C11.966 \|C23.888.592.763.941
Synonyms:	Blindness, Day \|Day Blindness \|Disabilities, Vision \|Disability, Vision \|Disorders, Visual \|Disorder, Visual \|Hemeralopia \|Hemeralopias \|Impairments, Visual \|Impairment, Visual \|Macropsia \|Macropsias \|Metamorphopsia \|Metamorphopsias \|Micropsia \|Micropsias \|Vision Disabi
Slim Mappings:	Eye disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: D014786 MeSH: D014786 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants