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: lymph node cancer (MONDO:0001082)
..Starting node ..intra-abdominal lymph node mast cell malignancy ()
Child Nodes:
Sister Nodes:
..intra-abdominal lymph node mast cell malignancy ()
..intrapelvic lymph node leukemic reticuloendotheliosis ()
..lymph node adenoid cystic carcinoma ()
..metastatic malignant neoplasm in the lymph nodes ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1614
Name:	intra-abdominal lymph node mast cell malignancy
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	malignant mast cell tumors involving intra-abdominal lymph nodes; mast cell malignancy of intra-abdominal lymph nodes
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal