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: lipoma (MONDO:0005106)
..Starting node ..hibernoma ()
Child Nodes:
........central nervous system hibernoma ()
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:	21168
Name:	hibernoma
Definition:	A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Brown fat neoplasm; Brown fat tumor; fetal fat cell lipoma; hibernoma; hibernoma, benign
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal