Lista chorób rzadkich*

313846 - Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

313850 - Infantile cerebellar-retinal degeneration

313855 - FGFR2-related bent bone dysplasia

313884 - 12p12.1 microdeletion syndrome

313892 - Developmental and speech delay due to SOX5 deficiency

313906 - Congenital pancreatic cyst

313920 - Epstein-Barr virus-associated gastric carcinoma

313936 - PENS syndrome

313947 - 2q23.1 microduplication syndrome

314002 - Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

314017 - Idiopathic linear interstitial keratitis

314022 - Gastric adenocarcinoma and proximal polyposis of the stomach

314029 - High bone mass osteogenesis imperfecta

314034 - 7p22.1 microduplication syndrome

314041 - Marfanoid habitus-inguinal hernia-advanced bone age syndrome

314051 - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

314373 - Chronic infantile diarrhea due to guanylate cyclase 2C overactivity

314376 - Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

314381 - Hereditary sensory and autonomic neuropathy type 6

314389 - Xq12-q13.3 duplication syndrome

314394 - Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

314399 - Autosomal dominant aplasia and myelodysplasia

314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

314419 - Ameloblastoma

314422 - Ameloblastic carcinoma

314425 - Rare odontogenic tumor

314432 - Spigelian hernia-cryptorchidism syndrome

314451 - Meigs syndrome

314459 - Pseudo-Meigs syndrome

314466 - Atypical Meigs syndrome

314473 - Ovarian fibroma

314478 - Ovarian fibrothecoma

314485 - Young adult-onset distal hereditary motor neuropathy

314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

314566 - Primary progressive apraxia of speech

314572 - Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

314575 - Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

314585 - 15q overgrowth syndrome

314588 - Distal tetrasomy 15q

314597 - Chudley-McCullough syndrome

314603 - Autosomal recessive spastic ataxia with leukoencephalopathy

314613 - Growing teratoma syndrome

314621 - Duplication of the pituitary gland

314629 - CLN11 disease

314632 - ATP13A2-related juvenile neuronal ceroid lipofuscinosis

314637 - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

314647 - Non-progressive cerebellar ataxia with intellectual disability

314652 - Variant ABeta2M amyloidosis

314655 - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

314662 - Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

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

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