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: goiter (disease) (MONDO:0005397)
..Starting node ..nontoxic goiter ()
Child Nodes:
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:	1658
Name:	nontoxic goiter
Definition:	Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	euthyroid goiter; goiter, non-toxic; goitre, non-toxic; goitre, non-toxic NOS; Nodule-thyroid, non tox; non-toxic goiter; non-toxic goitre; non-toxic simple goitre; nontoxic goiter
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal