Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Turner Syndrome

Also known as: 45,X syndrome Bonnevie-Ullrich syndrome monosomy X Ullrich-Turner syndrome

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NORD Rare Disease Report
Turner-Type X-Linked Syndromic Intellectual Developmental Disorder

Also known as: Brooks Wisniewski Brown syndrome intellectual disability, x-linked syndromic, Turner type Juberg-Marsidi syndrome intellectual disability and macrocephaly syndrome intellectual disability, X-linked, syndromic, Brooks-Wisniewski-Brown type intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism MRXST syndromic X-linked intellectual disability Turner type X-linked intellectual disability, Brooks type X-linked intellectual disability, Turner type HUWE1-related neurodevelopmental disorder HUWE1-related intellectual disability HUWE1-related disorder

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NORD Rare Disease Report
Twin-Twin Transfusion Syndrome

Also known as: fetal transfusion syndrome fetofetal transfusion syndrome TTTS Twin-to-Twin transfusion syndrome

NORD Rare Disease Report
Typhoid

Also known as: Enteric Fever Salmonella Typhi Infection Typhoid Fever

NORD Rare Disease Report
Tyrosine Hydroxylase Deficiency

Also known as: autosomal recessive dopa-responsive dystonia autosomal recessive infantile Parkinsonism autosomal recessive Segawa syndrome TH deficiency tyrosine hydroxylase-deficient dopa-responsive dystonia (TH-DRD)

NORD Rare Disease Report
Tyrosinemia Type 1

Also known as: FAH deficiency fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia hereditary tyrosinemia type 1

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