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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: Pupil Disorders (D011681)
..Starting node ..Ectopia pupillae (C536185)
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:

3634

Name:

Ectopia pupillae

Definition:

Alternative IDs:

OMIM:129750

ParentIDs:

MESH:D011681

TreeNumbers:

C10.597.690/C536185 |C11.710/C536185 |C23.888.592.708/C536185

Synonyms:

Familial ectopic pupil

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536185
MeSH: C536185
OMIM: 129750;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009918	Ectopia pupillae

Disease Causing ClinVar Variants