orphafolder

| 280315 | Autoimmune pancreatitis type 2
| 3181 | Sprengel deformity
| 280302 | Autoimmune pancreatitis type 1
| 280333 | Autosomal recessive limb-girdle muscular dystrophy type 2P
| 280325 | Distal monosomy 12p
| 280293 | Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
| 280288 | Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
| 3194 | Corneodermatoosseous syndrome
| 280369 | Rare pediatric vasculitis
| 3195 | Sternal malformation-vascular dysplasia syndrome
| 280365 | Autosomal semi-dominant severe lipodystrophic laminopathy
| 280379 | Erythropoietic uroporphyria associated with myeloid malignancy
| 3197 | Hereditary hyperekplexia
| 3199 | Stimmler syndrome
| 280373 | Rare pediatric systemic disease
| 3184 | Steatocystoma multiplex-natal teeth syndrome
| 280342 | Rare systemic or rheumatological disease of childhood
| 3186 | Holoprosencephaly-radial heart renal anomalies syndrome
| 3191 | Subaortic stenosis-short stature syndrome
| 3193 | Supravalvular aortic stenosis
| 280356 | PLIN1-related familial partial lipodystrophy
| 3214 | Deaf blind hypopigmentation syndrome, Yemenite type
| 280400 | Inherited prion disease
| 3213 | Deafness-opticoacoustic nerve atrophy-dementia syndrome
| 280403 | Familial omphalocele syndrome with facial dysmorphism
| 280406 | Familial steroid-resistant nephrotic syndrome with sensorineural deafness
| 3210 | Summitt syndrome
| 3201 | Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
| 280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
| 3212 | Autosomal dominant optic atrophy and congenital deafness
| 280397 | Familial Alzheimer-like prion disease
| 280576 | Nestor-Guillermo progeria syndrome
| 3220 | Deafness-enamel hypoplasia-nail defects syndrome
| 3219 | Fountain syndrome
| 3222 | Phosphoribosylpyrophosphate synthetase superactivity
| 280586 | Chondrodysplasia with joint dislocations, gPAPP type
| 3221 | Generalized resistance to thyroid hormone
| 3217 | Deafness-small bowel diverticulosis-neuropathy syndrome
| 280553 | Fatal infantile hypertonic myofibrillar myopathy
| 280558 | Warsaw breakage syndrome
| 3216 | Conductive deafness-malformed external ear syndrome
| 3218 | Deafness-epiphyseal dysplasia-short stature syndrome
| 280569 | Rapidly progressive glomerulonephritis
| 280065 | Calciphylaxis cutis
| 280062 | Calciphylaxis
| 647 | Nijmegen breakage syndrome
| 279947 | Postorgasmic illness syndrome
| 279943 | Hereditary neutrophilia
| 279934 | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
| 3152 | Sclerosteosis
| 279928 | Paraneoplastic uveitis
| 279925 | Infectious panuveitis
| 279922 | Infectious anterior uveitis
| 280142 | Severe combined immunodeficiency due to LCK deficiency
| 3164 | Omphalocele syndrome, Shprintzen-Goldberg type
| 3168 | Sillence syndrome
| 280133 | Complement component 3 deficiency
| 3163 | SHORT syndrome
| 1479 | Atrial septal defect-atrioventricular conduction defects syndrome
| 3156 | Senior-Loken syndrome
| 280071 | ALG11-CDG
| 280068 | Visceral calciphylaxis
| 3157 | Septo-optic dysplasia spectrum
| 3180 | Spondylocamptodactyly syndrome
| 280210 | Pelizaeus-Merzbacher disease, connatal form
| 280219 | Pelizaeus-Merzbacher disease, classic form
| 280200 | Microform holoprosencephaly
| 3177 | Spinocerebellar degeneration-corneal dystrophy syndrome
| 280205 | Laryngotracheoesophageal cleft type 0
| 3175 | X-linked spasticity-intellectual disability-epilepsy syndrome
| 280195 | Septopreoptic holoprosencephaly
| 3172 | Eyebrow duplication-syndactyly syndrome
| 280183 | Methylmalonic aciduria due to transcobalamin receptor defect
| 280282 | Pelizaeus-Merzbacher-like disease due to GJC2 mutation
| 280270 | Pelizaeus-Merzbacher-like disease
| 280234 | Null syndrome
| 1855 | Spondyloenchondrodysplasia
| 280224 | Pelizaeus-Merzbacher disease, transitional form
| 1797 | Autosomal dominant spondylocostal dysostosis
| 280229 | Pelizaeus-Merzbacher disease in female carriers
| 276580 | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
| 276575 | Autosomal dominant hyperinsulinism due to SUR1 deficiency
| 3258 | Cenani-Lenz syndrome
| 3262 | Dobrow syndrome
| 276598 | Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
| 276585 | Diazoxide-resistant hyperinsulinism
| 276608 | Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
| 3265 | Humero-radial synostosis
| 276603 | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
| 3266 | Humero-radio-ulnar synostosis
| 276624 | Sporadic pheochromocytoma
| 3267 | Familial lambdoid synostosis
| 276621 | Sporadic pheochromocytoma/secreting paraganglioma
| 3268 | Radioulnar synostosis-microcephaly-scoliosis syndrome
| 276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers
| 3270 | Radioulnar synostosis-developmental delay-hypotonia syndrome
| 276627 | Sporadic secreting paraganglioma
| 3274 | Granulomatous arthritis of childhood
| 3275 | Spondylocarpotarsal synostosis
| 425 | Apolipoprotein A-I deficiency

« Til de 100 forrige Til de 100 næste » 1 ... 31 32 33 34 35 36 37 ... 97

Handlinger tilknyttet webside

Send this