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: cataract (disease) (MONDO:0005129)
..Starting node ..mature cataract ()
Child Nodes:
Sister Nodes:
..cataract 1 multiple types ()
..cataract 12 multiple types ()
..cataract 28 ()
..cataract 3 multiple types ()
..cataract 34 multiple types ()
..cataract 36 ()
..cataract 4 multiple types ()
..cataract 9 multiple types ()
..cortical cataract ()
..craniostenosis cataract ()
..diabetes mellitus type 2 associated cataract ()
..diabetic cataract ()
..early-onset non-syndromic cataract ()
..hypermature cataract ()
..immature cataract ()
..mature cataract ()
..nuclear cataract ()
..senile cataract ()
..syndromic cataract ()
..tetanic cataract ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1782
Name:	mature cataract
Definition:	A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	total or mature cataract; total, mature senile cataract
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CPT2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal