Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Pupil Disorders (D011681)
..Starting node ..Anisocoria (D015875)
Child Nodes:
Sister Nodes:
..Anisocoria (D015875)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Ectopia Lentis with Ectopia of Pupil (C563268)
..Ectopia pupillae (C536185)
..McPherson Robertson Cammarano syndrome (C538161)
..Microcoria, congenital (C537550)
..Microphthalmia, Isolated, With Corectopia (C563581)
..Miosis (D015877) 5
..Mydriasis (D015878) 1
..Pierson syndrome (C537185)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Tonic Pupil (D015845) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

711

Name:

Anisocoria

Definition:

Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.

Alternative IDs:

ParentIDs:

MESH:D011681

TreeNumbers:

C10.597.690.150 |C11.710.090 |C23.888.592.708.150

Synonyms:

Anisocoria, Physiologic |Inequality, Pupillary Size |Physiologic Anisocoria |Pupil Diameter Unequal |Pupillary Size Inequality

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: D015875
MeSH: D015875
OMIM: 106240;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009916	Anisocoria

Disease Causing ClinVar Variants