Rare Disease Database

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
NORD Rare Disease Report
Tularemia

Also known as: deerfly fever rabbit fever



NORD Rare Disease Report
Turcot Syndrome

Also known as: Brain tumor-polyposis syndrome Glioma-polyposis syndrome


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


NORD Rare Disease Report
UGDH-Related Disorder

Also known as: developmental and epileptic encephalopathy 84; DEE84 epileptic encephalopathy, early infantile, 84; EIEE84 Jamuar syndrome


NORD Rare Disease Report
Ulcerative Colitis

Also known as: Chronic Non-Specific Ulcerative Colitis Colitis Gravis Idiopathic Non-Specific Ulcerative Colitis Inflammatory Bowel Disease (IBD), Ulcerative Colitis Type Proctocolitis, Idiopathic


NORD Rare Disease Report
Urachal Cancer

Also known as: urachal adenocarcinoma urachal carcinoma


NORD Rare Disease Report
Urofacial Syndrome

Also known as: Ochoa syndrome hydronephrosis with peculiar facial expression inverted smile and occult neuropathic bladder partial facial palsy with urinary abnormalities UFS

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