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 organ benign neoplasm (MONDO:0000628)
Parent Node: lipoma (MONDO:0005106)
..Starting node ..central nervous system lipoma ()
Child Nodes:
........central nervous system hibernoma ()
........cerebral hemisphere lipoma ()
........spinal cord lipoma ()
Sister Nodes:
..angiolipoma ()
..axillary lipoma ()
..breast lipoma ()
..central nervous system lipoma ()
..chest wall lipoma ()
..chondroid lipoma ()
..colorectal lipoma ()
..conventional lipoma ()
..endobronchial lipoma ()
..esophageal lipoma ()
..external ear lipoma ()
..familial multiple lipomatosis ()
..gallbladder lipoma ()
..heart lipoma ()
..hibernoma ()
..infiltrating lipoma ()
..internal auditory canal lipoma ()
..kidney lipoma ()
..lipoma of face ()
..lipoma of stomach ()
..liver lipoma ()
..lumbosacral lipoma ()
..paratesticular lipoma ()
..pleomorphic lipoma ()
..pleural lipoma ()
..skin lipoma ()
..spindle cell lipoma ()
..tendon sheath lipoma ()
..thymus lipoma ()
..tonsillar lipoma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3844
Name:	central nervous system lipoma
Definition:	A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	central nervous system lipoma; CNS lipoma; lipoma of central nervous system; lipoma of CNS; lipoma of the central nervous system; lipoma of the CNS
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal