Lista chorób rzadkich*

269560 - Genetic cerebellar malformation

269564 - Genetic syndrome with a central nervous system malformation as a major feature

269567 - Genetic syndrome with a cerebellar malformation as a major feature

269570 - Genetic syndrome with a Dandy-Walker malformation as a major feature

269573 - Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature

271832 - Genetic soft tissue tumor

271835 - Genetic digestive tract tumor

271841 - Genetic cardiac tumor

271844 - Genetic urogenital tumor

271847 - Genetic neuroendocrine tumor

271853 - Genetic cardiac anomaly

271861 - Hereditary ATTR amyloidosis

271870 - Rare genetic systemic or rheumatologic disease

275517 - Autoimmune lymphoproliferative syndrome with recurrent viral infections

275523 - Dianzani autoimmune lymphoproliferative disease

275534 - OBSOLETE: Myostatin-related muscle hypertrophy

275543 - L1 syndrome

275555 - Preeclampsia

275729 - Rare hemorrhagic disorder due to a constitutional thrombocytopenia

275736 - Rare hemorrhagic disorder due to a qualitative platelet defect

275742 - Genetic infertility

275745 - Alpha-thalassemia and related disorders

275749 - Beta-thalassemia and related diseases

275752 - Sickle cell disease and related diseases

275761 - Lysosomal acid lipase deficiency

275766 - Idiopathic pulmonary arterial hypertension

275777 - Heritable pulmonary arterial hypertension

275786 - Drug- or toxin-induced pulmonary arterial hypertension

275791 - Pulmonary arterial hypertension associated with another disease

275798 - Pulmonary arterial hypertension associated with connective tissue disease

275803 - Pulmonary arterial hypertension associated with congenital heart disease

275808 - Pulmonary arterial hypertension associated with HIV infection

275813 - Pulmonary arterial hypertension associated with portal hypertension

275823 - Pulmonary arterial hypertension associated with schistosomiasis

275828 - Pulmonary arterial hypertension associated with chronic hemolytic anemia

275837 - Pulmonary hypertension owing to lung disease and/or hypoxia

275844 - Pulmonary hypertension with unclear multifactorial mechanism

275853 - Syndrome with pulmonary hypertension as a major feature

275864 - Behavioral variant of frontotemporal dementia

275872 - Frontotemporal dementia with motor neuron disease

275938 - Hemolytic disease due to fetomaternal alloimmunization

275944 - Hemolytic disease of the newborn with Kell alloimmunization

276058 - Genetic neurodegenerative disease with dementia

276061 - Genetic frontotemporal degeneration with dementia

276066 - Bile acid CoA ligase deficiency and defective amidation

276142 - Rare tumor of salivary glands

276145 - Malignant epithelial tumor of salivary glands

276148 - Benign epithelial tumor of salivary glands

276152 - Multiple endocrine neoplasia type 4

276161 - Multiple endocrine neoplasia

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