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: congenital nervous system disorder (MONDO:0002320)
Parent Node: granular cell tumor (MONDO:0006235)
..Starting node ..congenital granular cell tumor ()
Child Nodes:
Sister Nodes:
..benign granular cell tumor ()
..breast granular cell tumor ()
..congenital granular cell tumor ()
..cutaneous granular cell tumor ()
..esophageal granular cell tumor ()
..granular cell cancer ()
..mediastinal granular cell myoblastoma ()
..neurohypophysis granular cell tumor ()
..vulvar granular cell tumor ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4527
Name:	congenital granular cell tumor
Definition:	An instance of granular cell tumor that is present from birth.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	congenital granular cell tumor
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal