Lista chorób rzadkich*

527497 - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

528084 - Non-specific syndromic intellectual disability

528091 - Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

528105 - Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

528623 - Hereditary angioedema with C1Inh deficiency

528647 - Hereditary angioedema with normal C1Inh

528663 - Acquired angioedema with C1Inh deficiency

529468 - Monoclonal mast cell activation syndrome

529574 - Duane retraction syndrome with congenital deafness

529665 - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

529799 - Acute bilirubin encephalopathy

529808 - Chronic bilirubin encephalopathy

529819 - NON RARE IN EUROPE: Exfoliation syndrome

529831 - Letrozole toxicity

529852 - Combined hepatocellular carcinoma and cholangiocarcinoma

529864 - Secondary erythromelalgia

529962 - 17q24.2 microdeletion syndrome

529965 - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

529970 - Male infertility due to acephalic spermatozoa

529974 - Immune dysregulation with inflammatory bowel disease

529977 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

529980 - Inflammatory bowel disease-recurrent sinopulmonary infections syndrome

530033 - Dermoid or epidermoid cyst of the central nervous system

530298 - Progressive myoclonic epilepsy with neuroserpin inclusion bodies

530303 - Progressive dementia with neuroserpin inclusion bodies

530313 - PIK3CA-related overgrowth syndrome

530792 - RELA fusion-positive ependymoma

530838 - KRT1-related diffuse nonepidermolytic keratoderma

530849 - Familial apolipoprotein A5 deficiency

530983 - Lamb-Shaffer syndrome

530995 - Mixed phenotype acute leukemia

531151 - 9q21.13 microdeletion syndrome

535453 - Familial lipase maturation factor 1 deficiency

535458 - Familial GPIHBP1 deficiency

536391 - RASopathy

536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

536471 - Spondylodysplastic Ehlers-Danlos syndrome

536516 - Myopathic Ehlers-Danlos syndrome

536532 - Classical-like Ehlers-Danlos syndrome type 2

536545 - Kyphoscoliotic Ehlers-Danlos syndrome

537072 - PLG-related hereditary angioedema with normal C1Inh

537891 - OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh

538096 - Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

538101 - Congenital axonal neuropathy with encephalopathy

538238 - Neurological channelopathy of the central nervous system due to a genetic chloride channel defect

538574 - Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

538756 - Familial multiple discoid fibromas

538863 - Classic pyoderma gangrenosum

538866 - Pustular pyoderma gangrenosum

538869 - Bullous pyoderma gangrenosum

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

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