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: benign neoplasm of cerebrum (MONDO:0021497)
Parent Node: central nervous system lipoma (MONDO:0003844)
..Starting node ..cerebral hemisphere lipoma ()
Child Nodes:
........corpus callosum lipoma ()
Sister Nodes:
..central nervous system hibernoma ()
..cerebral hemisphere lipoma ()
..spinal cord lipoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3843
Name:	cerebral hemisphere lipoma
Definition:	A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cerebral hemisphere lipoma; lipoma of cerebral hemisphere; lipoma of the cerebral hemisphere
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ITGA6; ITGB4;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal