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
Jackson-Weiss Syndrome

Also known as: craniosynostosis, midfacial hypoplasia, and foot abnormalities Jackson-Weiss craniosynostosis JWS

* También disponible en español




NORD Rare Disease Report
Jervell and Lange-Nielsen Syndrome

Also known as: autosomal recessive long QT syndrome (LQTS) cardioauditory syndrome cardioauditory syndrome of Jervell and Lange-Nielsen deafness, congenital, and functional heart disease Jervell and Lange-Nielsen (JLNS) surdocardiac syndrome



NORD Rare Disease Report
Joubert Syndrome

Also known as: cerebellooculorenal syndrome 1; CORS1 cerebelloparenchchymal disorder IV familial Joubert-Bolthauser syndrome



NORD Rare Disease Report
Juvenile CLN3 Disease

Also known as: CLN3 CLN3-NCL JNCL juvenile Batten disease juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis 3 Spielmeyer-Sjogren disease Vogt-Spielmeyer disease Vogt-Spielmeyer-Sjogren disease


NORD Rare Disease Report
Juvenile Hemochromatosis

Also known as: hereditary hemochromatosis type 2 juvenile hereditary hemochromatosis type 2 hereditary hemochromatosis


NORD Rare Disease Report
Juvenile Myelomonocytic Leukemia

Also known as: chronic myelomonocytic leukemia of infancy JMML juvenile chronic myelogenous leukemia (old literature)