Lista chorób rzadkich*

319623 - X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

319635 - Amyloidosis cutis dyschromia

319640 - Retinal macular dystrophy type 2

319646 - PGM1-CDG

319651 - Constitutional megaloblastic anemia with severe neurologic disease

319658 - NON RARE IN EUROPE: Unexplained intellectual disability

319667 - Primary lymphoma of the conjunctiva

319671 - Alazami syndrome

319675 - Microcephalic primordial dwarfism, Dauber type

319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

319681 - NON RARE IN EUROPE: Lactase non-persistence in adulthood

319684 - NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency

319691 - NON RARE IN EUROPE: Partial color blindness, protan type

319698 - NON RARE IN EUROPE: Partial color blindness, deutan type

319705 - NON RARE IN EUROPE: Parkinson disease

319719 - Autoinflammatory syndrome of childhood

320317 - OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

320332 - X-linked pure spastic paraplegia

320335 - Pure or complex hereditary spastic paraplegia

320342 - Pure or complex autosomal dominant spastic paraplegia

320346 - Pure or complex autosomal recessive spastic paraplegia

320350 - Pure or complex X-linked spastic paraplegia

320355 - Autosomal dominant spastic paraplegia type 41

320360 - MT-ATP6-related mitochondrial spastic paraplegia

320365 - Autosomal dominant spastic paraplegia type 36

320370 - Autosomal recessive spastic paraplegia type 43

320375 - Autosomal recessive spastic paraplegia type 55

320380 - Autosomal recessive spastic paraplegia type 54

320385 - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

320391 - Autosomal recessive spastic paraplegia type 46

320396 - Autosomal recessive spastic paraplegia type 45

320401 - Autosomal recessive spastic paraplegia type 44

320406 - Spastic paraplegia-optic atrophy-neuropathy syndrome

320411 - Autosomal recessive spastic paraplegia type 56

322126 - Genetic tumor of hematopoietic and lymphoid tissues

324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

324290 - Early-onset Lafora body disease

324294 - T-cell immunodeficiency with epidermodysplasia verruciformis

324299 - Multiple paragangliomas associated with polycythemia

324307 - Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome

324313 - 9p13 microdeletion syndrome

324321 - Sinoatrial node dysfunction and deafness

324353 - Congenital achiasma

324364 - Mixed sclerosing bone dystrophy with extra-skeletal manifestations

324381 - Hereditary inclusion body myopathy type 4

324410 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

324416 - Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome

324422 - ALG13-CDG

324442 - Autosomal recessive axonal neuropathy with neuromyotonia

324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

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