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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: Eye Diseases, Hereditary (D015785)
Parent Node: Fibrosis (D005355)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
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:

4295

Name:

Fibrosis of Extraocular Muscles, Congenital, 3C

Definition:

Alternative IDs:

ParentIDs:

MESH:D005355|MESH:D015785|MESH:D015835

TreeNumbers:

C10.228.758/C567666 |C10.292.562/C567666 |C11.270/C567666 |C11.590/C567666 |C16.320.290/C567666 |C23.550.355/C567666

Synonyms:

CFEOM3C

Slim Mappings:

Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)

Reference:

MedGen: C567666
MeSH: C567666
OMIM: 609384;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007911	Congenital bilateral ptosis
3	HP:0001491	Congenital fibrosis of extraocular muscles
4	HP:0002553	Highly arched eyebrow
5	HP:0001249	Intellectual disability
6	HP:0002808	Kyphosis
7	HP:0000767	Pectus excavatum
8	HP:0007867	Restrictive partial external ophthalmoplegia
9	HP:0000219	Thin upper lip vermilion
10	HP:0009891	Underdeveloped supraorbital ridges

Disease Causing ClinVar Variants