Lista chorób rzadkich*

576227 - Complete atrioventricular septal defect without ventricular hypoplasia

576232 - Partial atrioventricular septal defect with ventricular hypoplasia

576235 - Partial atrioventricular septal defect without ventricular hypoplasia

576242 - Intermediate atrioventricular septal defect

576278 - SATB2-associated syndrome

576283 - SATB2-associated syndrome due to a pathogenic variant

576349 - NLRC4-related familial cold autoinflammatory syndrome

576356 - Sporadic human prion disease

576360 - Acquired human prion disease

576370 - Variant Creutzfeldt-Jakob disease

576379 - Iatrogenic Creutzfeldt-Jakob disease

576742 - Genetic hemolytic uremic syndrome

580572 - Intraductal tubulopapillary neoplasm of pancreas

580933 - Lethal brain and heart developmental defects

580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome

580951 - Punctate inner choroidopathy

581271 - Cramp-fasciculation syndrome

583097 - Congenital infiltrating lipomatosis of the face

583595 - Serine biosynthesis pathway deficiency, infantile/juvenile form

583602 - Neu-laxova syndrome due to phosphoserine aminotransferase deficiency

583607 - Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

583612 - Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency

583856 - Isolated splenic vein thrombosis

583861 - Isolated mesenteric vein thrombosis

585867 - Acute myeloid leukemia with t(9;22)(q34.1;q11.2)

585877 - B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

585909 - B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

585918 - B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

585929 - B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

585936 - B-lymphoblastic leukemia/lymphoma with hyperdiploidy

585942 - B-lymphoblastic leukemia/lymphoma with hypodiploidy

585948 - B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

585956 - B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)

586130 - Sporadic fatal insomnia

589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome

589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

589515 - PUM1-associated developmental disability-ataxia-seizure syndrome

589522 - Spinocerebellar ataxia type 46

589527 - Spinocerebellar ataxia type 45

589534 - Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)

589542 - Myeloid/lymphoid neoplasm associated with JAK2 rearrangement

589547 - GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

589595 - Mixed phenotype acute leukemia with t(v;11q23.3)

589608 - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

589618 - Dystonia 28

589746 - Inherited gynecological cancer-predisposing syndrome

589821 - Congenital-onset Steinert myotonic dystrophy

589824 - Childhood-onset Steinert myotonic dystrophy

589827 - Juvenile-onset Steinert myotonic dystrophy

589830 - Adult-onset Steinert myotonic dystrophy

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