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Rare Disease Database

Search Results for: J

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Jackson-Weiss Syndrome

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

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

Joubert Syndrome

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

Juberg-Marsidi Syndrome

Also known as: JMS, Juberg-Marsidi intellectual disability syndrome, X-linked intellectual disability, with growth delay, deafness, microgenitalism, X-linked hypogonadism gynecomastia intellectual disability, X-linked intellectual disability-hypotonic facies syndrome 1 , Smith-Fineman-Myers syndrome, Brooks-Wisniewski-Brown syndrome

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

Juvenile Hemochromatosis

Also known as: hereditary hemochromatosis type 2, juvenile hereditary hemochromatosis, type 2 hereditary hemochromatosis
Subdivisions: juvenile hemochromatosis type 2A, juvenile hemochromatosis type 2B