orphafolder

| 300878 | Hairy cell leukemia variant
| 300869 | Splenic diffuse red pulp small B-cell lymphoma
| 300895 | ALK-positive anaplastic large cell lymphoma
| 300888 | Diffuse large B-cell lymphoma with chronic inflammation
| 300605 | Juvenile amyotrophic lateral sclerosis
| 300755 | Laminopathy with striated muscle involvement
| 300751 | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
| 300763 | Laminopathy with lipodystrophy
| 300758 | Laminopathy with peripheral neuropathy
| 300842 | Indolent B-cell non-Hodgkin lymphoma
| 300766 | Laminopathy with premature aging
| 300903 | ALK-negative anaplastic large cell lymphoma
| 300912 | Marginal zone lymphoma
| 304055 | Pituitary tumor
| 306436 | Congenital sucrase-isomaltase deficiency with starch intolerance
| 306431 | Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
| 306462 | Congenital sucrase-isomaltase deficiency without starch intolerance
| 306446 | Congenital sucrase-isomaltase deficiency with minimal starch tolerance
| 306550 | FADD-related immunodeficiency
| 306553 | Myospherulosis
| 306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
| 306547 | Porencephaly-microcephaly-bilateral congenital cataract syndrome
| 306530 | Congenital hereditary facial paralysis-variable hearing loss syndrome
| 306539 | Hereditary acrokeratotic poikiloderma of Kindler-Weary
| 306522 | Familial primary hypomagnesemia with normocalcuria
| 306527 | Isolated hereditary congenital facial paralysis
| 306516 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
| 306519 | Familial primary hypomagnesemia with hypocalcuria
| 306507 | LAMB2-related infantile-onset nephrotic syndrome
| 306511 | Autosomal recessive spastic paraplegia type 48
| 306498 | PTEN hamartoma tumor syndrome
| 306504 | Junctional epidermolysis bullosa with respiratory and renal involvement
| 306474 | Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
| 306486 | Congenital sucrase-isomaltase deficiency without sucrose intolerance
| 306666 | Rare parkinsonian syndrome due to neurodegenerative disease
| 306661 | Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
| 306658 | Familial normophosphatemic tumoral calcinosis
| 306648 | Non-infectious anterior uveitis
| 306644 | Complication after organ transplantation
| 306640 | Rare intoxication due to medical products
| 306636 | Rare tumor of liver and intrahepatic biliary tract
| 306633 | Rare tumor of gallbladder and extrahepatic biliary tract
| 306617 | X-linked complicated spastic paraplegia type 1
| 306597 | X-linked Opitz G/BBB syndrome
| 306588 | Autosomal dominant Opitz G/BBB syndrome
| 306577 | Sodium channelopathy-related small fiber neuropathy
| 306558 | Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
| 295140 | Hyperphalangy, unilateral
| 295142 | Hyperphalangy, bilateral
| 295146 | Polydactyly of a biphalangeal thumb, bilateral (removed in latest version)
| 295187 | Zygodactyly type 1
| 295193 | Zygodactyly type 4
| 295195 | Synpolydactyly type 1
| 295189 | Zygodactyly type 2
| 295191 | Zygodactyly type 3
| 295201 | Congenital vertical talus, unilateral
| 295203 | Congenital vertical talus, bilateral
| 295197 | Synpolydactyly type 2
| 295199 | Synpolydactyly type 3
| 295217 | Radio-ulnar synostosis, unilateral
| 295219 | Radio-ulnar synostosis, bilateral
| 295213 | Humero-ulnar synostosis, unilateral
| 295215 | Humero-ulnar synostosis, bilateral
| 295232 | Congenital genu flexum
| 295229 | Congenital genu recurvatum
| 295223 | Madelung deformity, bilateral
| 295221 | Madelung deformity, unilateral
| 295227 | Congenital elbow dislocation, bilateral
| 295225 | Congenital elbow dislocation, unilateral
| 295241 | Macrodactyly of fingers, bilateral
| 295239 | Macrodactyly of fingers, unilateral
| 295245 | Macrodactyly of toes, bilateral
| 295243 | Macrodactyly of toes, unilateral
| 298644 | Disorder of thiamine metabolism and transport
| 300179 | Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
| 300319 | Charcot-Marie-Tooth disease type 2P
| 300324 | Persistent polyclonal B-cell lymphocytosis
| 300313 | Congenital cataract-hearing loss-severe developmental delay syndrome
| 300298 | Severe congenital hypochromic anemia with ringed sideroblasts
| 300305 | 11p15.4 microduplication syndrome
| 300284 | Connective tissue disorder due to lysyl hydroxylase-3 deficiency
| 300293 | Transient infantile hypertriglyceridemia and hepatosteatosis
| 300385 | Pituitary carcinoma
| 300493 | Sagliker syndrome
| 300373 | Familial infantile gigantism
| 300382 | Progeroid and marfanoid aspect-lipodystrophy syndrome
| 300345 | Autosomal systemic lupus erythematosus
| 300359 | PLCG2-associated antibody deficiency and immune dysregulation
| 300333 | Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
| 639 | Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG
| 662 | Yellow nail syndrome
| 537 | Toxic epidermal necrolysis
| 793 | SAPHO syndrome
| 317 | Erythrokeratodermia variabilis
| 629 | Short stature due to growth hormone qualitative anomaly
| 632 | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
| 248 | Autosomal recessive hypohidrotic ectodermal dysplasia
| 1810 | Autosomal dominant hypohidrotic ectodermal dysplasia
| 3437 | Vogt-Koyanagi-Harada disease
| 2032 | Idiopathic pulmonary fibrosis

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