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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: Ataxia (D001259)
Parent Node: Movement Disorders (D009069)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
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:

8691

Name:

Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia

Definition:

Alternative IDs:

ParentIDs:

MESH:D001259|MESH:D009069|MESH:D015835

TreeNumbers:

C10.228.662/C566817 |C10.228.758/C566817 |C10.292.562/C566817 |C10.597.350.090/C566817 |C11.590/C566817 |C23.888.592.350.090/C566817

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C566817
MeSH: C566817
OMIM: 168885;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000464	Abnormality of the neck
3	HP:0002312	Clumsiness
4	HP:0002131	Episodic ataxia
5	HP:0001270	Motor delay
6	HP:0002548	Parkinsonism with favorable response to dopaminergic medication

Disease Causing ClinVar Variants