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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: Blepharoptosis (D001763)
Parent Node: Pupil Disorders (D011681)
Parent Node: Strabismus (D013285)
..Starting node ..Ptosis, Strabismus, And Ectopic Pupils (C566736)
Child Nodes:
Sister Nodes:
..Carnevale syndrome (C535586)
..Esotropia (D004948) 1
..Exotropia (D005099)
..Hemifacial Hyperplasia With Strabismus (C564199)
..Krauss Herman Holmes syndrome (C537618)
..McPherson Robertson Cammarano syndrome (C538161)
..Mehes syndrome (C536146)
..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
..Van Bogaert-Hozay syndrome (C536526)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9461

Name:

Ptosis, Strabismus, And Ectopic Pupils

Definition:

Alternative IDs:

ParentIDs:

MESH:D001763|MESH:D011681|MESH:D013285

TreeNumbers:

C10.292.562.887/C566736 |C10.597.690/C566736 |C11.338.204/C566736 |C11.590.810/C566736 |C11.710/C566736 |C23.888.592.708/C566736

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C566736
MeSH: C566736
OMIM: 178330;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000508	Ptosis
3	HP:0000486	Strabismus

Disease Causing ClinVar Variants