Lista chorób rzadkich*

458837 - Rare combined vascular malformation

458841 - OBSOLETE: Primary lymphedema with associated anomalies

458844 - Rare vascular malformation of major vessels

459033 - Ataxia-oculomotor apraxia type 4

459051 - Spondyloepiphyseal dysplasia, Stanescu type

459056 - Autosomal recessive spastic paraplegia type 75

459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

459074 - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

459345 - Immunodeficiency due to a complement cascade component deficiency

459348 - Immunodeficiency due to a complement regulatory deficiency

459353 - OBSOLETE: C1 inhibitor deficiency

459526 - Rare genetic capillary malformation

459530 - OBSOLETE: Genetic primary lymphedema

459537 - Genetic complex vascular malformation with associated anomalies

459543 - Rare genetic vascular tumor

459548 - Rare genetic venous malformation

459690 - NON RARE IN EUROPE: Gender dysphoria

459696 - NON RARE IN EUROPE: Juvenile idiopathic scoliosis

459787 - Lethal multiple congenital anomalies/dysmorphic syndrome

464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome

464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome

464293 - NON RARE IN EUROPE: Infantile capillary hemangioma

464306 - DYRK1A-related intellectual disability syndrome

464311 - Intellectual disability syndrome due to a DYRK1A point mutation

464318 - Verrucous hemangioma

464321 - Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

464329 - Kaposiform lymphangiomatosis

464336 - BENTA disease

464343 - Catastrophic antiphospholipid syndrome

464359 - Benign metanephric tumor

464366 - NEK9-related lethal skeletal dysplasia

464370 - Neonatal alloimmune neutropenia

464440 - Primary dystonia, DYT27 type

464443 - COG6-CGD

464453 - Acquired methemoglobinemia

464458 - Paracetamol poisoning

464463 - NON RARE IN EUROPE: Adenocarcinoma of stomach

464682 - OBSOLETE: Disorder with acute infantile liver failure

464724 - Fever-associated acute infantile liver failure syndrome

464738 - Basel-Vanagaite-Smirin-Yosef syndrome

464756 - Familial gastric type 1 neuroendocrine tumor

464760 - Familial cavitary optic disc anomaly

464764 - Immune-mediated acquired neuromuscular junction disease

465508 - Symptomatic form of hemochromatosis type 1

465824 - Fetal encasement syndrome

466026 - Class I glucose-6-phosphate dehydrogenase deficiency

466066 - Genetic hemoglobinopathy

466084 - Genetic otorhinolaryngologic disease

466650 - Exercise-induced malignant hyperthermia

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