Lista chorób rzadkich*

364013 - Immune hydrops fetalis

364028 - X-linked intellectual disability due to GRIA3 mutations

364033 - Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood

364039 - Hydroa vacciniforme-like lymphoma

364043 - ALK-positive large B-cell lymphoma

364055 - Severe early-childhood-onset retinal dystrophy

364063 - Infantile epileptic-dyskinetic encephalopathy

364198 - Bipartite talus

364526 - Primary bone dysplasia

364531 - Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments

364536 - Primary bone dysplasia with micromelia

364541 - Otopalatodigital syndrome spectrum disorder

364559 - Dysostosis

364568 - Dysostosis with limb anomaly as a major feature

364571 - Dysostosis with limb and face anomalies as a major feature

364574 - Acrofacial dysostosis

364577 - Intellectual disability-brachydactyly-Pierre Robin syndrome

364803 - Rare bone disease related to a common gene or pathway defect

364817 - Aggrecan-related bone disorder

364820 - TRPV4-related bone disorder

365563 - Primary short bowel syndrome

369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

369840 - TRAPPC11-related limb-girdle muscular dystrophy R18

369847 - Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

369852 - Congenital neutropenia-myelofibrosis-nephromegaly syndrome

369861 - Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

369867 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

369873 - Obesity due to SIM1 deficiency

369881 - 2p21 microdeletion syndrome without cystinuria

369886 - Homozygous 2p21 microdeletion syndrome

369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

369894 - OBSOLETE: Early infantile epileptic encephalopathy without suppression burst

369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

369902 - OBSOLETE: DDX59-related orofaciodigital syndrome

369913 - Combined oxidative phosphorylation defect type 17

369920 - Pontocerebellar hypoplasia type 9

369929 - Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

369942 - CADDS

369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome

369955 - Methylmalonic acidemia with homocystinuria, type cblJ

369962 - Methylmalonic acidemia with homocystinuria, type cblX

369970 - Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

369979 - Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome

369992 - Severe dermatitis-multiple allergies-metabolic wasting syndrome

369999 - Diffuse palmoplantar keratoderma with painful fissures

370002 - Focal palmoplantar keratoderma with joint keratoses

370006 - Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome

370010 - Intellectual disability-facial dysmorphism-hand anomalies syndrome

370015 - Spondyloepimetaphyseal dysplasia, Isidor type

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

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