Disease Index

syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has physical basis in heterozygous mutation in the CDKN1C gene

medical condition

medical condition

Human disease

human disease

human disease

a disease of the immune system

human disease

human disease

hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in mutation in the FOXP3 gene on chromosome Xp11

Human disease

destruction of platelets in the context of an autoimmune process

human disease

human muscle disease

human disease

human disease

medical condition

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR)

human disease