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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: Fibrosis (D005355)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
Child Nodes:
Sister Nodes:
..Athabaskan brainstem dysgenesis (C535397)
..Diffuse Lewy Body Disease with Gaze Palsy (C565077)
..Duane Retraction Syndrome (D004370) 2
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 7 (C566916)
..Levator-Medial Rectus Synkinesis (C563625)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Miller Fisher Syndrome (D019846)
..Nystagmus, Pathologic (D009759) 25
..Oculomotor Nerve Diseases (D015840) 4
..Ophthalmoplegia (D009886) 41
..Ophthalmoplegia, Chronic Progressive External (D017246) 7
..Opsoclonus-Myoclonus Syndrome (D053578) 1
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Setting-Sun Phenomenon, Familial Benign (C563470)
..Strabismus (D013285) 13
..Tolosa-Hunt Syndrome (D020333) 1
..Tukel syndrome (C536925)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4296

Name:

Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence

Definition:

Alternative IDs:

ParentIDs:

MESH:D005355|MESH:D015835

TreeNumbers:

C10.228.758/C566508 |C10.292.562/C566508 |C11.590/C566508 |C23.550.355/C566508

Synonyms:

Congenital Fibrosis Syndrome with Synergistic Divergence |External Ophthalmoplegia with Synergistic Divergence

Slim Mappings:

Eye disease|Nervous system disease|Pathology (process)

Reference:

MedGen: C566508
MeSH: C566508
OMIM: 609612;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000577	Exotropia
3	HP:0000508	Ptosis

Disease Causing ClinVar Variants