Lista chorób rzadkich*

353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

353298 - Roifman syndrome

353308 - Pyruvate carboxylase deficiency, infantile type

353314 - Pyruvate carboxylase deficiency, severe neonatal type

353320 - Pyruvate carboxylase deficiency, benign type

353327 - Congenital myasthenic syndromes with glycosylation defect

353334 - Congenital retinal arteriovenous communication

353344 - Idiopathic macular telangiectasia type 1

353351 - Idiopathic macular telangiectasia type 3

353356 - Vasoproliferative tumor of the retina

356947 - 3q26q27 microdeletion syndrome

356961 - SLC35A2-CDG

356978 - D,L-2-hydroxyglutaric aciduria

356996 - ANK3-related intellectual disability-sleep disturbance syndrome

357001 - 19p13.13 microdeletion syndrome

357008 - Hemolytic uremic syndrome with DGKE deficiency

357027 - Hereditary retinoblastoma

357034 - Non-hereditary retinoblastoma

357043 - Amyotrophic lateral sclerosis type 4

357058 - Autosomal recessive cutis laxa type 2A

357064 - Autosomal recessive cutis laxa type 2B

357074 - Autosomal recessive cutis laxa type 2, classic type

357107 - Arterial thoracic outlet syndrome

357131 - Venous thoracic outlet syndrome

357154 - Oral submucous fibrosis

357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome

357175 - Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

357220 - Primary essential cutis verticis gyrata

357225 - Primary non-essential cutis verticis gyrata

357237 - Severe combined immunodeficiency due to CARD11 deficiency

357329 - Combined immunodeficiency due to IL21R deficiency

357332 - Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

357502 - Idiopathic nephrotic syndrome

357506 - Genetic non-syndromic renal or urinary tract malformation

363189 - Congenital anomaly of the great veins

363203 - Ring chromosome

363245 - Genetic progeroid syndrome

363250 - Ciliopathy

363266 - OBSOLETE: Rare hereditary iron overload disease

363294 - Genetic syndromic Pierre Robin syndrome

363300 - Genetic intractable diarrhea of infancy

363306 - Genetic intestinal disease due to fat malabsorption

363314 - Genetic intestinal polyposis

363396 - High myopia-sensorineural deafness syndrome

363400 - Severe neurodegenerative syndrome with lipodystrophy

363409 - Fetal akinesia-cerebral and retinal hemorrhage syndrome

363412 - Hypomyelination with brain stem and spinal cord involvement and leg spasticity

363417 - Temtamy preaxial brachydactyly syndrome

363424 - Multiple mitochondrial dysfunctions syndrome type 3

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