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 connective and soft tissue neoplasm (MONDO:0000654)
Parent Node: tumor of adipose tissue (MONDO:0021354)
..Starting node ..benign lipomatous neoplasm ()
Child Nodes:
........lipoblastoma ()
........lipoma ()
........lipomatosis ()
Sister Nodes:
..atypical lipomatous tumor ()
..benign lipomatous neoplasm ()
..lipomatous cancer ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	44983
Name:	benign lipomatous neoplasm
Definition:	A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adipose tissue benign connective and soft tissue neoplasm; benign adipose tissue neoplasm; benign adipose tissue tumor; benign connective and soft tissue neoplasm of adipose tissue; benign lipomatous neoplasm; benign lipomatous tumor; benign neoplasm of adipose tissue; benign neoplasm of the adipose
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal