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)
Parent Node: nutritional deficiency disease (MONDO:0006873)
..Starting node ..endemic goiter ()
Child Nodes:
Sister Nodes:
..acquired night blindness ()
..ariboflavinosis ()
..ascorbic acid deficiency ()
..choline deficiency disease ()
..endemic goiter ()
..folic acid deficiency anemia ()
..iron deficiency anemia ()
..Keshan disease ()
..magnesium deficiency ()
..pellagra ()
..pernicious anemia ()
..potassium deficiency ()
..protein-energy malnutrition ()
..steatitis ()
..swayback ()
..vitamin deficiency disorder ()
..Wernicke-Korsakoff syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6742
Name:	endemic goiter
Definition:	thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	iodine-deficiency-related endemic goitre; simple goiter; simple goitre
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal