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: partial deletion of the short arm of chromosome 2 (MONDO:0016884)
..Starting node ..homozygous 2p21 microdeletion syndrome ()
Child Nodes:
........2p21 microdeletion syndrome without cystinuria ()
........hypotonia-cystinuria syndrome type 1 ()
Sister Nodes:
..2p13.2 microdeletion syndrome ()
..chromosome 2p16.1-p15 deletion syndrome ()
..homozygous 2p21 microdeletion syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18246
Name:	homozygous 2p21 microdeletion syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	2p21 contiguous gene deletion syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal