Disease Index

bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts

human disease

acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly

Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs

infectious disease produced by Bartonella bacilliformis infection

autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24

autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33

Castleman disease is a rare lymphoproliferative disorder characterized by non-malignant lymph node enlargement and systemic inflammatory symptoms. Unicentric Castleman disease involves a single lymph node region, while multicentric Castleman disease (MCD) affects multiple regions and is often associated with HHV-8 infection or idiopathic hypercytokinemia driven by IL-6. The estimated incidence is approximately 4,500-5,000 new cases annually in the United States.

lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically

disease

human disease

clouding of the lens inside the eye, which leads to low vision

cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24

cataract that has material basis in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12

cataract that has material basis in heterozygous mutation in the MIP gene on chromosome 12q13

cataract that has material basis in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q

cataract that has material basis in heterozygous mutation in the MAF gene on chromosome 16q23

cataract that has material basis in variation in the region 15q21-q22

cataract that has material basis in variation in the region 2pter-p24

cataract that has material basis in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11

cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13

cataract that has material basis in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12

cataract that has material basis in variation in the region 12q24.2-q24.3

cataract that has material basis in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33

cataract that has material basis in homozygous mutation in the LSS gene on chromosome 21q22

cataract that has material basis in homozygous mutation in the LEMD2 gene on chromosome 6p21

cataract that has material basis in variation in the region 17q24

cataract that has material basis in variation in the region 1pter-p36.13

human disease