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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: Microphthalmos (D008850)
Parent Node: Myopia (D009216)
Parent Node: Pupil Disorders (D011681)
..Starting node ..Microphthalmia, Isolated, With Corectopia (C563581)
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:

7237

Name:

Microphthalmia, Isolated, With Corectopia

Definition:

Alternative IDs:

ParentIDs:

MESH:D008850|MESH:D009216|MESH:D011681

TreeNumbers:

C10.597.690/C563581 |C11.250.566/C563581 |C11.710/C563581 |C11.744.636/C563581 |C16.131.384.666/C563581 |C23.888.592.708/C563581

Synonyms:

MCOPCR |Microphthalmia And Corectopia |Microphthalmia With Myopia And Corectopia

Slim Mappings:

Congenital abnormality|Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563581
MeSH: C563581
OMIM: 156900;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009918	Ectopia pupillae
3	HP:0000568	Microphthalmia
4	HP:0000545	Myopia

Disease Causing ClinVar Variants