Disease browser and phenotype 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

Disease Browser
Parent Node: Hypothyroidism (D007037)
..Starting node ..Thyroid Dyshormonogenesis 5 (C562771)
Child Nodes:
Sister Nodes:
..Bamforth syndrome (C537901)
..Congenital Hypothyroidism (D003409) 17
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..Johanson Blizzard syndrome (C535880)
..Jung Wolff Back Stahl syndrome (C537694)
..Myxedema (D009230)
..Pituitary Hormone Deficiency, Combined, 1 (C567803)
..Pituitary Hormone Deficiency, Combined, 4 (C567492)
..Thyroid Dyshormonogenesis 3 (C562769)
..Thyroid Dyshormonogenesis 5 (C562771)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Thyrotropin-Releasing Hormone Resistance, Generalized (C566049)
..Zadik Barak Levin syndrome (C536721)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11060

Name:

Thyroid Dyshormonogenesis 5

Definition:

Alternative IDs:

OMIM:274900

ParentIDs:

MESH:D007037

TreeNumbers:

C19.874.482/C562771

Synonyms:

Hypothyroidism, Congenital, due to Dyshormonogenesis, 5 |TDH5 |Thyroid Hormonogenesis, Genetic Defect in, 5

Slim Mappings:

Endocrine system disease

Reference:

MedGen: C562771
MeSH: C562771
OMIM: 274900;

Genes: DUOXA2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0000853	Goiter
4	HP:0001510	Growth delay
5	HP:0000821	Hypothyroidism
6	HP:0001249	Intellectual disability

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_207581.3(DUOXA2):c.738C>G (p.Tyr246Ter)	405753	DUOXA2	Pathogenic	4774518	RCV000000473;	N	MedGen:C0342196,OMIM:274900,SNOMED CT:63127008	15	45409472	45409472	NM_207581.3:c.738C>G	NP_997464.2:p.Tyr246Ter	NC_000015.9:g.45409472C>G	OMIM Allelic Variant:612772.0001	C0342196 274900 Thyroglobulin synthesis defect