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)
Parent Node: benign soft tissue neoplasm (MONDO:0044335)
..Starting node ..lipoblastoma ()
Child Nodes:
Sister Nodes:
..angiomyxoma ()
..benign PEComa ()
..benign synovial neoplasm ()
..endobronchial lipoma ()
..endometrial stromal nodule ()
..lipoblastoma ()
..myofibromatosis ()
..myxoma ()
..soft tissue chondroma ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16611
Name:	lipoblastoma
Definition:	A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	embryonic lipoma; fetal lipoma; infantile lipoma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal