MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: genetic systemic or rheumatologic disease (MONDO:0017133)
Parent Node: musculoskeletal disease with cataract (MONDO:0020232)
Parent Node: Pierre Robin syndrome associated with collagen disease (MONDO:0015318)
Parent Node: rare disease with glaucoma as a major feature (MONDO:0020222)
Parent Node: spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia (MONDO:0016761)
Parent Node: syndromic myopia (MONDO:0020208)
Parent Node: vitreoretinal degeneration (MONDO:0020248)
..Starting node ..Stickler syndrome ()
Child Nodes:
........autosomal recessive Stickler syndrome ()
........Stickler syndrome type 1 ()
........Stickler syndrome type 2 ()
........Stickler syndrome type 3 ()
Sister Nodes:
..autosomal dominant neovascular inflammatory vitreoretinopathy ()
..autosomal dominant vitreoretinochoroidopathy ()
..enhanced S-cone syndrome ()
..exudative vitreoretinopathy ()
..Knobloch syndrome ()
..snowflake vitreoretinal degeneration ()
..Stickler syndrome ()
..Wagner disease ()
..X-linked retinoschisis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19354
Name:	Stickler syndrome
Definition:	Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hereditary progressive arthroophthalmopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal