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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: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Pupil Disorders (D011681)
..Starting node ..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
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:

2606

Name:

Congenital Corneal Opacities, Cornea Guttata, and Corectopia

Definition:

Alternative IDs:

ParentIDs:

MESH:D003317|MESH:D011681

TreeNumbers:

C10.597.690/C563921 |C11.204.236/C563921 |C11.270.162/C563921 |C11.710/C563921 |C16.320.290.162/C563921 |C23.888.592.708/C563921

Synonyms:

Corneal Opacities, Congenital, with Cornea Guttata and Corectopia

Slim Mappings:

Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563921
MeSH: C563921
OMIM: 608484;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007957	Corneal opacity
3	HP:0009918	Ectopia pupillae

Disease Causing ClinVar Variants