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: central nervous system lipoma (MONDO:0003844)
Parent Node: hibernoma (MONDO:0021168)
..Starting node ..central nervous system hibernoma ()
Child Nodes:
Sister Nodes:
..central nervous system hibernoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3943
Name:	central nervous system hibernoma
Definition:	A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	central nervous system hibernoma; hibernoma of central nervous system; hibernoma of nervous system; hibernoma of the central nervous system; nervous system hibernoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal