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 lipomatous neoplasm (MONDO:0044983)
..Starting node ..lipomatosis ()
Child Nodes:
........adiposis dolorosa ()
........diffuse lipomatosis ()
........encephalocraniocutaneous lipomatosis ()
........mediastinal lipomatosis ()
........multiple symmetric lipomatosis () L: 00494;
........pancreatic lipomatosis duodenal stenosis ()
........pelvic lipomatosis ()
........steroid lipomatosis ()
Sister Nodes:
..lipoblastoma ()
..lipoma ()
..lipomatosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6574
Name:	lipomatosis
Definition:	A neoplastic process characterized by diffuse overgrowth of mature adipose tissue.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Launois-Bensaude syndrome; lipomatosis; Madelung disease; Madelung's disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal