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: lens and zonula anomaly (MONDO:0020223)
..Starting node ..lens shape anomaly ()
Child Nodes:
........Alport syndrome ()
........CHARGE syndrome ()
........focal dermal hypoplasia ()
........Goldenhar syndrome ()
........Meckel syndrome ()
........microphthalmia, Lenz type ()
........Rubinstein-Taybi syndrome ()
Sister Nodes:
..lens position anomaly ()
..lens shape anomaly ()
..lens size anomaly ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20237
Name:	lens shape anomaly
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal