orphafolder

| 329813 | Mosaic genome-wide paternal uniparental disomy
| 329802 | 5p13 microduplication syndrome
| 329883 | Non-hypoproteinemic hypertrophic gastropathy
| 329874 | Idiopathic giant cell myocarditis
| 329475 | Spastic paraplegia-Paget disease of bone syndrome
| 329481 | Lipoprotein glomerulopathy
| 329478 | Adult-onset distal myopathy due to VCP mutation
| 329942 | Transient neonatal multiple acyl-CoA dehydrogenase deficiency
| 329931 | C3 glomerulonephritis
| 329971 | Generalized juvenile polyposis/juvenile polyposis coli
| 329967 | Intermittent hydrarthrosis
| 329894 | Juvenile overlap myositis
| 329888 | Juvenile idiopathic inflammatory myopathy
| 329918 | Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
| 329903 | Immunoglobulin-mediated membranoproliferative glomerulonephritis
| 329308 | Fatty acid hydroxylase-associated neurodegeneration
| 329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
| 329319 | Thrombocythemia with distal limb defects
| 329324 | Inverse Klippel-Trénaunay syndrome
| 329284 | Beta-propeller protein-associated neurodegeneration
| 329303 | PLA2G6-associated neurodegeneration
| 329457 | Distal arthrogryposis type 5D
| 329466 | Autosomal dominant focal dystonia, DYT25 type
| 329469 | Acute megakaryoblastic leukemia without Down syndrome
| 329329 | Autosomal recessive frontotemporal pachygyria
| 329332 | Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
| 329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
| 329341 | Limbic encephalitis with DPP6 antibodies
| 329228 | Microcephalic primordial dwarfism due to ZNF335 deficiency
| 329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
| 329217 | Cerebral sinovenous thrombosis
| 329211 | Autosomal dominant neovascular inflammatory vitreoretinopathy
| 329195 | Developmental delay with autism spectrum disorder and gait instability
| 329191 | Tall stature-scoliosis-macrodactyly of the great toes syndrome
| 329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy
| 329258 | Autosomal dominant Charcot-Marie-Tooth disease type 2Q
| 329255 | Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
| 329252 | Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
| 329249 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
| 329242 | Congenital chronic diarrhea with protein-losing enteropathy
| 329235 | X-linked central congenital hypothyroidism with late-onset testicular enlargement
| 329173 | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
| 325697 | Genetic 46,XX disorder of sex development
| 325690 | Genetic disorder of sex development
| 325713 | Genetic 46,XY disorder of sex development of endocrine origin
| 325706 | Genetic 46,XY disorder of sex development
| 325638 | Syndrome with disorder of sex development of gynecological interest
| 325665 | Genetic disorder of sex development of gynecological interest
| 325620 | Disorder of sex development of gynecological interest
| 325632 | 46,XY disorder of sex development of gynecological interest
| 329 | Congenital factor XI deficiency
| 1243 | Best vitelliform macular dystrophy
| 325511 | 46,XY disorder of sex development due to a cholesterol synthesis defect
| 325524 | Classic congenital lipoid adrenal hyperplasia due to STAR deficency
| 325357 | 46,XY disorder of sex development due to impaired androgen production
| 325448 | Leydig cell hypoplasia due to LHB deficiency
| 325546 | Sex chromosome disorder of sex development
| 325529 | Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
| 325537 | 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors
| 325124 | Testicular agenesis
| 325118 | 46,XY disorder of gonadal development
| 325351 | 46,XY disorder of sex development of endocrine origin
| 325345 | 46,XY ovotesticular disorder of sex development
| 325055 | 46,XX disorder of gonadal development
| 325109 | Syndrome with 46,XX disorder of sex development
| 325099 | 46,XX disorder of sex development induced by exogenous maternal-derived androgen
| 325093 | 46,XX disorder of sex development induced by endogenous maternal-derived androgen
| 325061 | 46,XX disorder of sex development induced by fetoplacental androgens excess
| 324999 | JMP syndrome
| 325004 | CANDLE syndrome
| 324960 | Unexplained periodic fever syndrome of childhood
| 324964 | Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
| 324972 | MAGIC syndrome
| 324977 | Proteasome disability syndrome
| 324939 | Periodic fever syndrome of childhood
| 324942 | Pyogenic autoinflammatory syndrome of childhood
| 324950 | Granulomatous autoinflammatory syndrome of childhood
| 324953 | Unclassified autoinflammatory syndrome of childhood
| 324927 | Pyogenic autoinflammatory syndrome
| 324930 | Granulomatous autoinflammatory syndrome
| 324933 | Mixed autoinflammatory and autoimmune syndrome
| 324936 | Unclassified autoinflammatory syndrome
| 324764 | Trichorhinophalangeal syndrome
| 324761 | Microcephalic primordial dwarfism
| 324924 | Hereditary periodic fever syndrome
| 324767 | Non-familial rare disease with dilated cardiomyopathy
| 324718 | ABetaA21G amyloidosis
| 324713 | ABeta amyloidosis, Italian type
| 324737 | SRD5A3-CDG
| 324723 | ABeta amyloidosis, Arctic type
| 324648 | Invasive non-typhoidal salmonellosis
| 324636 | Autoerythrocyte sensitization syndrome
| 324708 | ABeta amyloidosis, Iowa type
| 324703 | ABetaL34V amyloidosis
| 324611 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
| 324604 | Classic multiminicore myopathy
| 324632 | Hendra virus infection
| 324625 | Chikungunya
| 324588 | Familial dyskinesia and facial myokymia
| 324601 | X-linked cleft palate and ankyloglossia

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