Du er her: Forside / intranet / orphafolder

orphaentry | 86875 | Adult T-cell leukemia/lymphoma
orphaentry | 86879 | Extranodal nasal NK/T cell lymphoma
orphaentry | 79502 | Punctate palmoplantar keratoderma type 2
orphaentry | 79503 | Ichthyosis hystrix of Curth-Macklin
orphaentry | 79504 | Ichthyosis hystrix gravior
orphaentry | 79506 | Cholesterol-ester transfer protein deficiency
orphaentry | 79507 | Hypotonia-failure to thrive-microcephaly syndrome
orphaentry | 79495 | X-linked congenital generalized hypertrichosis
orphaentry | 79499 | Autosomal dominant deafness-onychodystrophy syndrome
orphaentry | 79500 | DOORS syndrome
orphaentry | 79501 | Punctate palmoplantar keratoderma type 1
orphaentry | 79669 | Autoimmune bullous skin disease
orphaentry | 79665 | Gardner syndrome
orphaentry | 82004 | Ehlers-Danlos syndrome with periventricular heterotopia
orphaentry | 83001 | Urogenital tract malformation
orphaentry | 79643 | Autosomal recessive hyperinsulinism due to SUR1 deficiency
orphaentry | 79651 | Mild hyperphenylalaninemia
orphaentry | 79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
orphaentry | 83317 | Scrub typhus
orphaentry | 83330 | Proximal spinal muscular atrophy type 1
orphaentry | 83315 | Murine typhus
orphaentry | 83316 | Pseudotyphus of California
orphaentry | 83419 | Proximal spinal muscular atrophy type 3
orphaentry | 83420 | Proximal spinal muscular atrophy type 4
orphaentry | 83418 | Proximal spinal muscular atrophy type 2
orphaentry | 83313 | Boutonneuse fever
orphaentry | 83314 | Epidemic typhus
orphaentry | 83311 | Rocky Mountain spotted fever
orphaentry | 83312 | Rickettsialpox
orphaentry | 83469 | Desmoplastic small round cell tumor
orphaentry | 83468 | Solitary bone cyst
orphaentry | 83467 | Morvan syndrome
orphaentry | 83465 | Narcolepsy type 2
orphaentry | 83476 | West-Nile encephalitis
orphaentry | 83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
orphaentry | 83472 | CAMOS syndrome
orphaentry | 83471 | Thymic aplasia
orphaentry | 83452 | Complex regional pain syndrome
orphaentry | 83451 | Florid cemento-osseous dysplasia
orphaentry | 83450 | Regional odontodysplasia
orphaentry | 83463 | Microtia
orphaentry | 83461 | Congenital primary aphakia
orphaentry | 83454 | Glomuvenous malformation
orphaentry | 83453 | Vulvovaginal gingival syndrome
orphaentry | 83618 | Severe dilated cardiomyopathy due to lamin A/C mutation
orphaentry | 83619 | Macrostomia-preauricular tags-external ophthalmoplegia syndrome
orphaentry | 83620 | Enteric anendocrinosis
orphaentry | 83628 | LUMBAR syndrome
orphaentry | 83601 | Steroid-responsive encephalopathy associated with autoimmune thyroiditis
orphaentry | 83616 | Rubella panencephalitis
orphaentry | 83617 | Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
orphaentry | 83594 | Eastern equine encephalitis
orphaentry | 83595 | Colorado tick fever
orphaentry | 83597 | Acute disseminated encephalomyelitis
orphaentry | 83600 | Encephalitis lethargica
orphaentry | 83482 | Mycoplasma encephalitis
orphaentry | 83483 | La Crosse encephalitis
orphaentry | 83484 | St. Louis encephalitis
orphaentry | 83593 | Western equine encephalitis
orphaentry | 84085 | Hinman syndrome
orphaentry | 84081 | Senior-Boichis syndrome
orphaentry | 84090 | Fibronectin glomerulopathy
orphaentry | 84087 | Collagen type III glomerulopathy
orphaentry | 84064 | Syndromic diarrhea
orphaentry | 84065 | Idiopathic malabsorption due to bile acid synthesis defects
orphaentry | 83639 | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
orphaentry | 83629 | Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
orphaentry | 83648 | X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
orphaentry | 83642 | Microcytic anemia with liver iron overload
orphaentry | 85163 | Hypomyelination-congenital cataract syndrome
orphaentry | 85164 | Camptodactyly-tall stature-scoliosis-hearing loss syndrome
orphaentry | 85146 | Neurogenic scapuloperoneal syndrome, Kaeser type
orphaentry | 85162 | Facial onset sensory and motor neuronopathy
orphaentry | 85138 | Addison disease
orphaentry | 85128 | Bothnia retinal dystrophy
orphaentry | 85136 | Cystic leukoencephalopathy without megalencephaly
orphaentry | 85110 | Familial encephalopathy with neuroserpin inclusion bodies
orphaentry | 85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
orphaentry | 84271 | Sporadic idiopathic steroid-resistant nephrotic syndrome
orphaentry | 85102 | Perineurioma
orphaentry | 84132 | Desmin-related myopathy with Mallory body-like inclusions
orphaentry | 84142 | Isaac syndrome
orphaentry | 84093 | Hereditary thermosensitive neuropathy
orphaentry | 85186 | Endosteal sclerosis-cerebellar hypoplasia syndrome
orphaentry | 85184 | Craniometadiaphyseal dysplasia, wormian bone type
orphaentry | 85182 | Diaphyseal medullary stenosis-bone malignancy syndrome
orphaentry | 85179 | Infantile osteopetrosis with neuroaxonal dysplasia
orphaentry | 85175 | Astley-Kendall dysplasia
orphaentry | 85174 | Pseudodiastrophic dysplasia
orphaentry | 85173 | IMAGe syndrome
orphaentry | 85172 | Microcephalic osteodysplastic dysplasia, Saul-Wilson type
orphaentry | 85170 | Mesomelic dysplasia, Savarirayan type
orphaentry | 85169 | Familial digital arthropathy-brachydactyly
orphaentry | 85168 | Craniofacial conodysplasia
orphaentry | 85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
orphaentry | 85166 | Platyspondylic dysplasia, Torrance type
orphaentry | 85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
orphaentry | 98118 | Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly
orphaentry | 98119 | Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly
orphaentry | 98120 | Non-pore-loop channelopathy due to Cl- channel barttin anomaly

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