Lista chorób rzadkich*

424982 - Biliary cystadenocarcinoma

424991 - Adenocarcinoma of the gallbladder and extrahepatic biliary tract

424996 - Squamous cell carcinoma of gallbladder and extrahepatic biliary tract

425003 - Inherited digestive cancer-predisposing syndrome

425120 - STING-associated vasculopathy with onset in infancy

425368 - Rare epithelial tumor of small intestine

431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

431149 - Combined immunodeficiency due to OX40 deficiency

431156 - Primary immunodeficiency with predisposition to severe viral infection

431166 - Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

431255 - Scapuloperoneal spinal muscular atrophy

431263 - Late-onset scapuloperoneal muscular dystrophy with hyaline bodies

431272 - X-linked scapuloperoneal muscular dystrophy

431320 - Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder

431329 - Autosomal recessive spastic paraplegia type 57

431341 - Patent urachus

431344 - Urachal sinus

431347 - Urachal diverticulum

431353 - Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency

434179 - Orofaciodigital syndrome type 14

434786 - Rare genetic autonomic nervous system disorder

434809 - Syndrome with woolly hair

435329 - Familial ossifying fibroma

435365 - Fetal lower urinary tract obstruction

435372 - Anterior urethral valve

435387 - Autosomal dominant Charcot-Marie-Tooth disease type 2Y

435438 - Progressive myoclonic epilepsy type 7

435554 - Genetic precocious puberty

435561 - Precocious puberty in female

435564 - Genetic precocious puberty in female

435603 - Genetic otorhinolaryngological malformation

435606 - Genetic nose and cavum anomaly

435609 - Genetic larynx anomaly

435612 - Genetic tracheal anomaly

435623 - OBSOLETE: Adactyly of foot

435628 - Keppen-Lubinsky syndrome

435638 - 3p25.3 microdeletion syndrome

435651 - CIDEC-related familial partial lipodystrophy

435660 - LIPE-related familial partial lipodystrophy

435743 - Congenital urachal anomaly

435804 - Short stature-advanced bone age-early-onset osteoarthritis syndrome

435808 - OBSOLETE: ACAN-related skeletal dysplasia

435819 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

435845 - Lethal neonatal spasticity-epileptic encephalopathy syndrome

435930 - Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

435934 - COG2-CDG

435938 - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

435953 - Progeroid features-hepatocellular carcinoma predisposition syndrome

435988 - Chronic atrial and intestinal dysrhythmia syndrome

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

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