Disease Index

multiple carboxylase deficiency that involves a deficiency in biotinidase

human disease

human disease

Human disease

human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts

Human disease

congenital disorder of urinary system

physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract

An aggressive hematologic malignancy derived from precursors of plasmacytoid dendritic cells. Typically presents with skin lesions and rapidly progresses to bone marrow involvement. Extremely rare with an incidence of 0.45 cases per million.

autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes

human disease

human disease

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth

human disease

human disease

human disease

human disease

human disease

The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.

syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability

human disease

very rare genetic disorder

human disease

Human disease

human disease

This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia

This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes

genetic disorder that affects the skin, hair, teeth, nails, and central nervous system