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
Twin-Twin Transfusion Syndrome

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

NORD Rare Disease Report

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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NORD Rare Disease Report
Urticaria, Papular

Also known as: Angioedema and Urticaria Giant Urticaria Hives, Giant Lichen Urticatus Quincke Syndrome