orphafolder

| 289682 | Lymphoepithelial-like carcinoma
| 289685 | Myopericytoma
| 289661 | Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
| 289666 | Plasmablastic lymphoma
| 289651 | Epstein-Barr Virus-associated carcinoma
| 289656 | Epstein-Barr Virus-associated mesenchymal tumor
| 289638 | Epstein-Barr Virus-related tumor
| 289644 | Epstein-Barr virus-associated malignant lymphoproliferative disorder
| 289857 | Neonatal glycine encephalopathy
| 289860 | Infantile glycine encephalopathy
| 289846 | Glutathione synthetase deficiency with 5-oxoprolinuria
| 289849 | Glutathione synthetase deficiency without 5-oxoprolinuria
| 289832 | Disorder of lysine and hydroxylysine metabolism
| 289841 | Disorder of glutamine metabolism
| 289829 | Disorder of tryptophan metabolism
| 289573 | Multiple mitochondrial dysfunctions syndrome
| 289560 | Mitochondrial membrane protein-associated neurodegeneration
| 289553 | Dysmorphism-conductive hearing loss-heart defect syndrome
| 289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
| 289539 | BAP1-related tumor predisposition syndrome
| 289635 | Rare virus associated tumor
| 289601 | Hereditary arterial and articular multiple calcification syndrome
| 289596 | Juvenile nasopharyngeal angiofibroma
| 289586 | Exfoliative ichthyosis
| 293355 | Methylmalonic acidemia without homocystinuria
| 293375 | Grayson-Wilbrandt corneal dystrophy
| 293381 | Epithelial recurrent erosion dystrophy
| 293462 | Pre-Descemet corneal dystrophy
| 293603 | Congenital hereditary endothelial dystrophy type II
| 293621 | X-linked endothelial corneal dystrophy
| 811 | Shwachman-Diamond syndrome
| 2689 | Intermittent neutropenia
| 2687 | Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome
| 293150 | Familial clubfoot due to PITX1 point mutation
| 293144 | Familial clubfoot due to 5q31 microdeletion
| 741 | Familial mitral valve prolapse
| 293168 | Infantile-onset ascending hereditary spastic paralysis
| 293165 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome
| 428 | Autosomal dominant hypocalcemia
| 2298 | Insulin-resistance syndrome type B
| 293181 | Malignant migrating partial seizures of infancy
| 293173 | Acute generalized exanthematous pustulosis
| 2207 | Familial primary hyperparathyroidism
| 293199 | Pleomorphic rhabdomyosarcoma
| 393 | 46,XX testicular disorder of sex development
| 293202 | Epithelioid sarcoma
| 293284 | Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
| 293208 | Celiac artery compression syndrome
| 2459 | Mansonelliasis
| 2404 | Loiasis
| 2394 | Pyruvate dehydrogenase E3 deficiency
| 2356 | Arachnoid cyst
| 829 | Adult-onset Still disease
| 3096 | Reye syndrome
| 1929 | Rasmussen subacute encephalitis
| 1183 | Opsoclonus-myoclonus syndrome
| 2688 | Adult idiopathic neutropenia
| 2686 | Cyclic neutropenia
| 890 | Hepatic veno-occlusive disease
| 176 | Non-rhizomelic chondrodysplasia punctata
| 231 | Dracunculiasis
| 2035 | Lymphatic filariasis
| 285657 | Disorder of folate metabolism and transport
| 284786 | Qualitative or quantitative defects of troponin
| 284790 | Qualitative or quantitative defects of tropomyosin
| 284804 | Ocular albinism
| 284448 | CLIPPERS
| 284454 | Acute zonal occult outer retinopathy
| 284460 | Acute annular outer retinopathy
| 284414 | Glycerol kinase deficiency, adult form
| 284417 | Phosphoserine aminotransferase deficiency
| 284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
| 284435 | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
| 285014 | Rare disease with thoracic aortic aneurysm and aortic dissection
| 284993 | Marfan and Marfan-related disorders
| 284973 | Marfan syndrome type 2
| 284963 | Marfan syndrome type 1
| 284984 | Aneurysm-osteoarthritis syndrome
| 284979 | Neonatal Marfan syndrome
| 284814 | Disorder of phenylalanine metabolism
| 284811 | Syndromic oculocutaneous albinism
| 284818 | Disorder of tyrosine metabolism
| 289362 | Non-central nervous system-localized embryonal carcinoma
| 289365 | Familial vesicoureteral reflux
| 289347 | Infective dermatitis associated with HTLV-1
| 289356 | Primary non-gestational choriocarcinoma of ovary
| 289377 | Early-onset myopathy with fatal cardiomyopathy
| 289380 | Myosclerosis
| 289290 | Hypermethioninemia encephalopathy due to adenosine kinase deficiency
| 289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
| 289326 | Tropical spastic paraparesis
| 289307 | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
| 289504 | Combined malonic and methylmalonic acidemia
| 289499 | Congenital cataract microcornea with corneal opacity
| 289494 | Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
| 289522 | Microtriplication 11q24.1
| 289513 | 12q15q21.1 microdeletion syndrome
| 289465 | Isolated congenital adermatoglyphia
| 289385 | Malignancy diagnosed during pregnancy
| 289483 | Intellectual disability-alacrima-achalasia syndrome

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