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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Gonadal Dysgenesis (D006059)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Sex Chromosome Disorders of Sex Development (D058533)
..Starting node ..Turner Syndrome (D014424)
Child Nodes:
........COGNITIVE FUNCTION 1, SOCIAL (OMIM:300082)
........Turner Syndrome-Associated Neurocognitive Phenotype (C564058)
Sister Nodes:
..Freemartinism (D005611)
..Gonadal Dysgenesis, Mixed (D006060)
..Klinefelter Syndrome (D007713)
..Male sterility due to Y-chromosome deletions (C536297)
..Triple X syndrome (C535318)
..Turner Syndrome (D014424) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11347
Name:	Turner Syndrome
Definition:	A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Alternative IDs:
ParentIDs:	MESH:D006059\|MESH:D006330\|MESH:D058533
TreeNumbers:	C12.706.316.309.872 \|C12.706.316.795.750 \|C13.351.875.253.309.872 \|C13.351.875.253.795.750 \|C14.240.400.980 \|C14.280.400.980 \|C16.131.240.400.970 \|C16.131.260.830.835.750 \|C16.131.939.316.309.872 \|C16.131.939.316.795.750 \|C16.320.180.830.835.750 \|C19.391.119.309.87
Synonyms:	Bonnevie Ullrich Syndrome \|Bonnevie-Ullrich Syndrome \|Gonadal Dysgenesis, 45,X \|Gonadal Dysgenesis, XO \|Monosomy X \|Status Bonnevie Ullrich \|Status Bonnevie-Ullrich \|Syndrome, Ullrich-Turner \|Turner's Syndrome \|Turners Syndrome \|Ullrich Turner Syndrome \|Ullrich-Tur
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D014424 MeSH: D014424 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants