Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Ocular Motility Disorders (D015835)
Parent Node: Synkinesis (D046608)
..Starting node ..Levator-Medial Rectus Synkinesis (C563625)
Child Nodes:
Sister Nodes:
..Kallmann Syndrome 2 with Bimanual Synkinesia (C563652)
..Levator-Medial Rectus Synkinesis (C563625)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6410

Name:

Levator-Medial Rectus Synkinesis

Definition:

Alternative IDs:

ParentIDs:

MESH:D015835|MESH:D046608

TreeNumbers:

C10.228.758/C563625 |C10.292.562/C563625 |C10.597.350.675/C563625 |C11.590/C563625 |C23.888.592.350.675/C563625

Synonyms:

Oculomotor-Levator Synkinesis

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C563625
MeSH: C563625
OMIM: 151610;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000478	Abnormality of the eye

Disease Causing ClinVar Variants