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: eye degenerative disease (MONDO:0004884)
Parent Node: myopia (disease) (MONDO:0001384)
..Starting node ..degenerative myopia ()
Child Nodes:
Sister Nodes:
..degenerative myopia ()
..myopia 21, autosomal dominant ()
..myopia 22, autosomal dominant ()
..myopia 23, autosomal recessive ()
..myopia 24, autosomal dominant ()
..myopia 25, autosomal dominant ()
..myopia 26, X-linked, female-limited ()
..myopia 6 ()
..myopia, high, with cataract and vitreoretinal degeneration ()
..MYP1 ()
..MYP10 ()
..MYP11 ()
..MYP12 ()
..MYP13 ()
..MYP14 ()
..MYP15 ()
..MYP16 ()
..MYP17 ()
..MYP18 ()
..MYP19 ()
..MYP2 ()
..MYP20 ()
..MYP3 ()
..MYP5 ()
..MYP7 ()
..MYP8 ()
..MYP9 ()
..schizophrenia 16 ()
..syndromic myopia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1383
Name:	degenerative myopia
Definition:	Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	degenerative progressive high myopia; pathological myopia; progressive high (degenerative) myopia; progressive high myopia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal