orphafolder

| 73246 | Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
| 73247 | Eosinophilic esophagitis
| 73423 | Acute ackee fruit intoxication
| 73274 | Acquired hemophilia
| 73272 | Growth delay due to insulin-like growth factor type 1 deficiency
| 73273 | Growth delay due to insulin-like growth factor I resistance
| 75326 | Retinal arterial tortuosity
| 75325 | Osteosclerosis-ichthyosis-premature ovarian failure syndrome
| 75249 | Familial isolated restrictive cardiomyopathy
| 75234 | Cholesteryl ester storage disease
| 75233 | Wolman disease
| 75110 | Myiasis
| 71290 | Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
| 71291 | Hereditary vascular retinopathy
| 71493 | Familial thrombocytosis
| 71505 | Cancer-associated retinopathy
| 71289 | Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
| 71526 | Obesity due to pro-opiomelanocortin deficiency
| 71528 | Obesity due to prohormone convertase I deficiency
| 71529 | Obesity due to melanocortin 4 receptor deficiency
| 71517 | Rapid-onset dystonia-parkinsonism
| 71518 | Benign paroxysmal torticollis of infancy
| 71519 | Psychogenic movement disorders
| 71862 | Inherited retinal disorder
| 71864 | Muscular channelopathy
| 71859 | Rare genetic neurological disorder
| 73229 | HANAC syndrome
| 73224 | Tubular renal disease-cardiomyopathy syndrome
| 73245 | Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
| 73230 | Ossification anomalies-psychomotor developmental delay syndrome
| 73217 | Müllerian aplasia
| 73014 | Intractable diarrhea of infancy
| 73223 | Global developmental delay-osteopenia-ectodermal defect syndrome
| 73220 | X-linked intellectual disability-hypotonic face syndrome
| 40366 | Acitretin/etretinate embryopathy
| 40923 | Eales disease
| 39812 | Graft versus host disease
| 39041 | Omenn syndrome
| 39044 | Uveal melanoma
| 38874 | Dihydropyrimidinuria
| 37748 | Schnitzler syndrome
| 37629 | Neonatal neutropenia
| 37612 | Episodic ataxia type 1
| 37559 | Acquired kinky hair syndrome
| 37553 | Andersen-Tawil syndrome
| 37202 | Interstitial cystitis
| 37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
| 36913 | Autoimmune hypoparathyroidism
| 36899 | Myoclonus-dystonia syndrome
| 68354 | Rare sleep disorder
| 68356 | Leukodystrophy
| 68346 | Rare genetic skin disease
| 68347 | Tumor of hematopoietic and lymphoid tissues
| 68348 | Scalp disease
| 68341 | Multiple congenital anomalies/dysmorphic syndrome
| 68334 | Rare hemorrhagic disorder due to a constitutional coagulation factors defect
| 68336 | Rare genetic tumor
| 68335 | Chromosomal anomaly
| 68329 | Rare maxillo-facial surgical disease
| 41751 | Bietti crystalline dystrophy
| 42062 | Iminoglycinuria
| 35705 | Neurometabolic disorder due to serine deficiency
| 35706 | Glutaric acidemia type 3
| 35704 | L-Arginine:glycine amidinotransferase deficiency
| 35710 | Glucose-galactose malabsorption
| 35737 | Morning glory disc anomaly
| 35708 | Aromatic L-amino acid decarboxylase deficiency
| 35696 | Mitochondrial disorder due to a defect in mitochondrial protein synthesis
| 35688 | Madelung deformity
| 35689 | Primary lateral sclerosis
| 35701 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
| 35698 | Mitochondrial DNA depletion syndrome
| 35612 | Nanophthalmia
| 35173 | X-linked dominant chondrodysplasia punctata
| 35687 | Erdheim-Chester disease
| 35686 | Serpiginous choroiditis
| 35664 | ALDH18A1-related De Barsy syndrome
| 35656 | Coenzyme Q10 deficiency
| 35120 | Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
| 35107 | Desmosterolosis
| 35099 | Isolated brachycephaly
| 35098 | Isolated plagiocephaly
| 35125 | Epidermal nevus syndrome
| 35122 | Congenital sucrase-isomaltase deficiency
| 35121 | Lysosomal acid phosphatase deficiency
| 36387 | Generalized epilepsy with febrile seizures-plus
| 36388 | Paraneoplastic neurologic syndrome
| 36397 | Adiposis dolorosa
| 36412 | Hypocomplementemic urticarial vasculitis
| 36426 | Stevens-Johnson syndrome
| 36355 | Bleeding disorder due to P2Y12 defect
| 36367 | Distal monosomy 1q
| 36382 | Familial cervical artery dissection
| 36383 | COL4A1-related familial vascular leukoencephalopathy
| 36386 | Hereditary sensory and autonomic neuropathy type 1
| 36234 | Bacterial toxic-shock syndrome
| 36236 | Staphylococcal scalded skin syndrome
| 36235 | Staphylococcal scarlet fever
| 36238 | Staphylococcal necrotizing pneumonia
| 36237 | Bullous impetigo

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