Lista chorób rzadkich*

171629 - Autosomal recessive spastic paraplegia type 35

171673 - Limbal stem cell deficiency

171676 - NON RARE IN EUROPE: Periventricular leukomalacia

171680 - Lissencephaly due to TUBA1A mutation

171684 - Idiopathic bilateral vestibulopathy

171690 - Metabolic myopathy due to lactate transporter defect

171695 - Parkinsonian-pyramidal syndrome

171700 - Diffuse panbronchiolitis

171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

171706 - Short stature-delayed bone age due to thyroid hormone metabolism deficiency

171709 - Male infertility due to globozoospermia

171714 - Amish infantile epilepsy syndrome

171719 - Cutis laxa-Marfanoid syndrome

171723 - White sponge nevus

171829 - 6q16 microdeletion syndrome

171836 - Amelogenesis imperfecta-gingival hyperplasia syndrome

171839 - Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

171844 - Blindness-scoliosis-arachnodactyly syndrome

171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

171851 - MEDNIK syndrome

171860 - OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome

171863 - Autosomal dominant spastic paraplegia type 42

171866 - Spondyloepimetaphyseal dysplasia, aggrecan type

171871 - Renal pseudohypoaldosteronism type 1

171876 - Generalized pseudohypoaldosteronism type 1

171881 - Cap myopathy

171886 - Cylindrical spirals myopathy

171889 - Myopathy with hexagonally cross-linked tubular arrays

171895 - Myeloid hemopathy

171898 - Lymphoid hemopathy

171901 - Primary cutaneous T-cell lymphoma

171915 - B-cell non-Hodgkin lymphoma

171918 - T-cell non-Hodgkin lymphoma

171929 - Trisomy 10p

172973 - OBSOLETE: Congenital myopathy with protein accumulation

172976 - Congenital myopathy with cores

172979 - OBSOLETE: Congenital myopathy with central nuclei

172982 - OBSOLETE: Congenital myopathy with fiber size variation

172985 - OBSOLETE: Congenital myopathy with vacuoles

174590 - Congenital hypogonadotropic hypogonadism

177101 - Rare adult hypothyroidism

177107 - Syndromic hypothyroidism

177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

177907 - Prader-Willi syndrome due to translocation

177910 - Prader-Willi syndrome due to imprinting mutation

177926 - Bleeding disorder in hemophilia A carriers

177929 - Bleeding disorder in hemophilia B carriers

178025 - Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations

178029 - Central diabetes insipidus

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

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