Disease Index

human disease

medical condition

German physician

medical condition

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies

osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur

medical condition

Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies

human disease

human disease

autosomal recessive genetic condition

autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16

medical condition

human disease

rare disease

neurodegenerative disorder

autosomal recessive disorder

human disease

CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy

human disease

osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly

Cap polyposis (CP) is a rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea

medical condition

human disease

human disease