Lista chorób rzadkich*

402029 - Primary eosinophilic gastrointestinal disease

402035 - Eosinophilic colitis

402041 - Autosomal recessive distal renal tubular acidosis

402075 - Familial bicuspid aortic valve

402082 - Progressive myoclonic epilepsy type 5

402364 - Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

402823 - Hepatitis delta

404437 - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

404440 - Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

404443 - Tatton-Brown-Rahman syndrome

404448 - ADNP syndrome

404451 - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome

404463 - Multisystemic smooth muscle dysfunction syndrome

404466 - Female infertility due to zona pellucida defect

404469 - Rare female infertility due to oocyte maturation defect

404473 - Severe intellectual disability-progressive spastic diplegia syndrome

404476 - Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

404507 - Chondromyxoid fibroma

404511 - Clear cell papillary renal cell carcinoma

404514 - Acquired cystic disease-associated renal cell carcinoma

404521 - Spinal muscular atrophy with respiratory distress type 2

404538 - X-linked distal hereditary motor neuropathy

404546 - DITRA

404553 - Vasculitis due to ADA2 deficiency

404560 - Familial atypical multiple mole melanoma syndrome

404568 - Dysostosis of genetic origin

404571 - Dysostosis of genetic origin with limb anomaly as a major feature

404574 - Genetic syndrome with limb reduction defects

404577 - Genetic syndrome with limb malformations as a major feature

404580 - Polyarticular juvenile idiopathic arthritis

404584 - Rare genetic bone development disorder

411493 - Pontocerebellar hypoplasia type 10

411501 - Williams-Campbell syndrome

411511 - Angelman syndrome due to a point mutation

411515 - Angelman syndrome due to imprinting defect in 15q11-q13

411527 - Central retinal vein occlusion

411533 - NON RARE IN EUROPE: Melanoma

411536 - Mild phosphoribosylpyrophosphate synthetase superactivity

411543 - Severe phosphoribosylpyrophosphate synthetase superactivity

411590 - Wolfram-like syndrome

411593 - Insulin autoimmune syndrome

411602 - Hereditary late-onset Parkinson disease

411629 - Infantile nephropathic cystinosis

411634 - Juvenile nephropathic cystinosis

411641 - Ocular cystinosis

411696 - Proton-pump inhibitor-responsive esophageal eosinophilia

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl

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