Lista chorób rzadkich*

101337 - OBSOLETE: Marseilles fever

101338 - OBSOLETE: Mediterranean spotted fever

101351 - Familial isolated congenital asplenia

101356 - OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome

101433 - Rare urogenital disease

101435 - Rare genetic eye disease

101685 - Rare non-syndromic intellectual disability

101932 - Anomaly of the mitral subvalvular apparatus

101934 - Genetic cardiac rhythm disease

101936 - Rare gastroesophageal disease

101937 - Rare pancreatic disease

101938 - Rare vascular liver disease

101939 - Rare parenchymal liver disease

101940 - Rare metabolic liver disease

101941 - Rare biliary tract disease

101943 - Rare hepatic and biliary tract tumor

101944 - Rare pulmonary disease

101945 - Rare bronchopulmonary tumor

101949 - OBSOLETE: Rare acquired eye disease

101950 - Rare eye tumor

101952 - Rare diabetes mellitus

101953 - Rare dyslipidemia

101954 - Rare adrenal disease

101955 - Rare thyroid disease

101956 - Polyendocrinopathy

101957 - Pituitary deficiency

101958 - Primary adrenal insufficiency

101959 - Chronic primary adrenal insufficiency

101960 - Genetic chronic primary adrenal insufficiency

101963 - Acquired chronic primary adrenal insufficiency

101972 - Combined T and B cell immunodeficiency

101977 - Immunodeficiency predominantly affecting antibody production

101978 - OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells

101980 - OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells

101982 - OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells

101985 - Quantitative and/or qualitative congenital phagocyte defect

101987 - Constitutional neutropenia

101988 - Primary immunodeficiency due to a defect in innate immunity

101992 - Immunodeficiency due to a complement cascade protein anomaly

101995 - Periodic fever syndrome

101997 - Primary immunodeficiency

101998 - Rare epilepsy

102000 - Medullar disease

102002 - Rare ataxia

102003 - Rare movement disorder

102005 - Brain inflammatory disease

102006 - Neurovascular malformation

102009 - Classic lissencephaly

102010 - Other syndrome with lissencephaly as a major feature

102011 - Lissencephaly type 3

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