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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

Disease Browser
Parent Node: Hyperthyroidism (D006980)
Parent Node: Pregnancy Complications (D011248)
..Starting node ..Hyperthyroidism, Familial Gestational (C566384)
Child Nodes:
Sister Nodes:
..Abortion, Spontaneous (D000022) 9
..Acute fatty liver of pregnancy (C537957)
..Chorea Gravidarum (D020150)
..Diabetes, Gestational (D016640) 5
..Fetal Death (D005313) 4
..Fetal Diseases (D005315) 51
..Hypertension, Pregnancy-Induced (D046110) 7
..Hyperthyroidism, Familial Gestational (C566384)
..Intrahepatic Cholestasis of Pregnancy (C535932)
..Maternal Death (D063130)
..Morning Sickness (D048968) 1
..Nuchal Cord (D053589)
..Obstetric Labor Complications (D007744) 17
..Oligohydramnios (D016104) 1
..Pelvic Floor Disorders (D059952)
..Pemphigoid Gestationis (D006559)
..Perinatal Death (D066087)
..Phenylketonuria, Maternal (D017042)
..Placenta Diseases (D010922) 6
..Polyhydramnios (D006831) 4
..Pregnancy Complications, Cardiovascular (D011249) 1
..Pregnancy Complications, Hematologic (D011250)
..Pregnancy Complications, Infectious (D011251) 4
..Pregnancy Complications, Neoplastic (D011252) 7
..Pregnancy in Diabetics (D011254) 6
..Pregnancy, Ectopic (D011271) 7
..Pregnancy, Prolonged (D011273)
..Prenatal Injuries (D049188) 1
..Pruritic urticarial papules plaques of pregnancy (C535817)
..Puerperal Disorders (D011644) 13
..Twinning due to Superfetation (C566018)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5502

Name:

Hyperthyroidism, Familial Gestational

Definition:

Alternative IDs:

OMIM:603373

ParentIDs:

MESH:D006980|MESH:D011248

TreeNumbers:

C13.703/C566384 |C19.874.397/C566384

Synonyms:

Slim Mappings:

Endocrine system disease|Pregnancy complication

Reference:

MedGen: C566384
MeSH: C566384
OMIM: 603373;

Genes: TSHR;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0012188	Hyperemesis gravidarum
3	HP:0000836	Hyperthyroidism

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_000369.2(TSHR):c.548A>G (p.Lys183Arg)	7253	TSHR	Pathogenic	121908879	RCV000006824;	N	MedGen:C1863959,OMIM:603373,ORPHA:99819	14	81562985	81562985	NM_000369.2:c.548A>G	NP_000360.2:p.Lys183Arg	NC_000014.8:g.81562985A>G	OMIM Allelic Variant:603372.0024	C1863959 603373 Hyperthyroidism, familial gestational