orphafolder

| 2133 | Hemoglobin E disease
| 228179 | Autosomal dominant Charcot-Marie-Tooth disease type 2M
| 288 | Hereditary elliptocytosis
| 231531 | Hermansky-Pudlak syndrome type 7
| 231537 | Hermansky-Pudlak syndrome type 8
| 231512 | Hermansky-Pudlak syndrome without pulmonary fibrosis
| 1320 | Idiopathic camptocormia
| 256 | Early-onset generalized limb-onset dystonia
| 231500 | Hermansky-Pudlak syndrome with pulmonary fibrosis
| 441 | Pure autonomic failure
| 231457 | Acute pandysautonomia
| 231466 | Acute sensory ataxic neuropathy
| 1576 | Infantile bilateral striatal necrosis
| 231445 | Paraparetic variant of Guillain-Barré syndrome
| 231450 | Acute pure sensory neuropathy
| 2073 | Narcolepsy type 1
| 231426 | Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
| 231416 | Regional variant of Guillain-Barré syndrome
| 231419 | Functional variant of Guillain-Barré syndrome
| 231401 | Alpha-thalassemia-myelodysplastic syndrome
| 231413 | Variant of Guillain-Barré syndrome
| 1866 | Focal, segmental or multifocal dystonia
| 2611 | Linear verrucous nevus syndrome
| 231393 | Beta-thalassemia-X-linked thrombocytopenia syndrome
| 809 | Mixed connective tissue disease
| 231386 | Beta-thalassemia with other manifestations
| 231256 | Beta-thalassemia-trichothiodystrophy syndrome
| 1309 | Medullary sponge kidney
| 231249 | Hemoglobin E-beta-thalassemia syndrome
| 231242 | Hemoglobin C-beta-thalassemia syndrome
| 2197 | Idiopathic hypercalciuria
| 231237 | Delta-beta-thalassemia
| 231230 | Beta-thalassemia associated with another hemoglobin anomaly
| 231226 | Dominant beta-thalassemia
| 18 | Distal renal tubular acidosis
| 231222 | Beta-thalassemia intermedia
| 231214 | Beta-thalassemia major
| 160 | Castleman disease
| 2841 | Familial benign chronic pemphigus
| 231183 | Usher syndrome type 3
| 347 | Frasier syndrome
| 231178 | Usher syndrome type 2
| 1670 | Chronic diarrhea with villous atrophy
| 231154 | Combined immunodeficiency due to partial RAG1 deficiency
| 2596 | Myopathy and diabetes mellitus
| 2966 | Properdin deficiency
| 231160 | Familial cerebral saccular aneurysm
| 231169 | Usher syndrome type 1
| 231137 | Silver-Russell syndrome due to 7p11.2p13 microduplication
| 231140 | Silver-Russell syndrome due to an imprinting defect of 11p15
| 231144 | Silver-Russell syndrome due to 11p15 microduplication
| 2194 | Anti-HLA hyperimmunization
| 231147 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
| 231120 | Beckwith-Wiedemann syndrome due to CDKN1C mutation
| 231127 | Beckwith-Wiedemann syndrome due to 11p15 microdeletion
| 231130 | Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
| 231080 | High-grade dysplasia in patients with Barrett esophagus
| 405 | Familial hypocalciuric hypercalcemia
| 231108 | Familial rhabdoid tumor
| 231111 | Drug-induced lupus erythematosus
| 231117 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
| 1223 | Balantidiasis
| 231040 | Familial generalized lentiginosis
| 3318 | Essential thrombocythemia
| 230857 | Ehlers-Danlos/osteogenesis imperfecta syndrome
| 230851 | Ehlers-Danlos syndrome, cardiac valvular type
| 231031 | Erythema palmare hereditarium
| 913 | Zollinger-Ellison syndrome
| 231013 | Congenital trigeminal anesthesia
| 230800 | Toxin-mediated infectious botulism
| 230845 | Ehlers-Danlos syndrome, vascular-like type
| 82 | Hereditary thrombophilia due to congenital antithrombin deficiency
| 230839 | Ehlers-Danlos syndrome due to tenascin-X deficiency
| 519 | Acute myeloid leukemia
| 233655 | Rare genetic vascular disease
| 235832 | Congenital vascular bone syndrome
| 235936 | Familial hyperaldosteronism
| 238305 | Infundibulo-neurohypophysitis
| 238269 | AApoAII amyloidosis
| 238446 | 15q11q13 microduplication syndrome
| 238329 | Severe X-linked mitochondrial encephalomyopathy
| 231573 | Congenital erosive and vesicular dermatosis
| 231580 | Primary unilateral adrenal hyperplasia
| 231556 | Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
| 231568 | Generalized dominant dystrophic epidermolysis bullosa
| 231632 | Ectopic aldosterone-producing tumor
| 231637 | Rare surgically correctable form of primary aldosteronism
| 231625 | Adrenocortical carcinoma with pure aldosterone hypersecretion
| 1900 | Ehlers-Danlos syndrome, kyphoscoliotic type
| 231671 | Isolated growth hormone deficiency type IB
| 286 | Ehlers-Danlos syndrome, vascular type
| 231679 | Isolated growth hormone deficiency type II
| 231641 | Rare non surgically correctable form of primary aldosteronism
| 285 | Ehlers-Danlos syndrome, hypermobility type
| 231662 | Isolated growth hormone deficiency type IA
| 231736 | Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
| 257 | Epidermolysis bullosa simplex with muscular dystrophy
| 231742 | Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
| 1901 | Ehlers-Danlos syndrome, dermatosparaxis type
| 231692 | Isolated growth hormone deficiency type III

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