MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: goiter (disease) (MONDO:0005397)
..Starting node ..nodular goiter (disease) ()
Child Nodes:
........multinodular goiter ()
Sister Nodes:
..dyshormonogenic goiter ()
..endemic goiter ()
..Graves disease ()
..lingual goiter ()
..nodular goiter (disease) ()
..nontoxic goiter ()
..substernal goiter ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6869
Name:	nodular goiter (disease)
Definition:	Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	goiter, nodular; nodular goiter; nodular goiter NOS; nodular goitre
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal