orphafolder

| 182101 | Idiopathic eosinophilic pneumonia
| 1047 | Sideroblastic anemia
| 182104 | Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
| 182108 | Thoracic malformation
| 71 | Chylomicron retention disease
| 182067 | Glial tumor
| 182064 | Rare neuroinflammatory or neuroimmunological disease
| 182061 | Cerebellar malformation
| 182058 | Primary orthostatic hypotension
| 1949 | Benign familial neonatal epilepsy
| 182079 | ARX-related epileptic encephalopathy
| 182076 | Syndromic neurometabolic disease with X-linked intellectual disability
| 189 | Hidrotic ectodermal dysplasia
| 1473 | Uveal coloboma-cleft lip and palate-intellectual disability
| 182073 | Syndromic neurometabolic disease with non-X-linked intellectual disability
| 182070 | Rare neurodegenerative disease
| 194 | Ocular coloboma
| 182040 | Aplastic anemia
| 182054 | Rare thrombotic disease of hematologic origin
| 1344 | Atrial standstill
| 182050 | MYH9-related disease
| 182047 | Rare acquired hemolytic anemia
| 182043 | Rare constitutional hemolytic anemia
| 3103 | Roberts syndrome
| 181425 | Rare major hypertriglyceridemia
| 181428 | Hyperalphalipoproteinemia
| 181419 | Rare hypoaldosteronism
| 181422 | Rare hyperlipidemia
| 709 | Peters plus syndrome
| 181437 | Rare syndromic dyslipidemia
| 181441 | Rare disorder with hypergonadotropic hypogonadism
| 181431 | Rare hypolipidemia
| 776 | X-linked intellectual disability with marfanoid habitus
| 181399 | Rare hyperthyroidism
| 670 | PIBIDS syndrome
| 181402 | Syndrome with hypoparathyroidism
| 181393 | Growth hormone insensitivity syndrome
| 902 | Werner syndrome
| 181396 | Rare hypothyroidism
| 888 | Van der Woude syndrome
| 181412 | Adrenogenital syndrome
| 181415 | Rare primary hyperaldosteronism
| 453 | IBIDS syndrome
| 181405 | Rare hypoparathyroidism
| 871 | Familial progressive cardiac conduction defect
| 181408 | Rare hyperparathyroidism
| 1597 | Distal monosomy 17q
| 1590 | Distal monosomy 13q
| 1587 | Monosomy 13q14
| 1621 | 3q13 microdeletion syndrome
| 1620 | Distal monosomy 3p
| 1643 | Xp22.3 microdeletion syndrome
| 1627 | Deletion 5q35
| 1699 | Trisomy 12p
| 1695 | Non-distal trisomy 10q
| 500 | Noonan syndrome with multiple lentigines
| 507 | Leishmaniasis
| 548 | Leprosy
| 233 | Duane retraction syndrome
| 657 | Congenital isolated hyperinsulinism
| 2445 | Conotruncal heart malformations
| 2495 | Meningioma
| 569 | Familial or sporadic hemiplegic migraine
| 2014 | Cleft palate
| 240 | Léri-Weill dyschondrosteosis
| 2311 | Autosomal recessive spondylocostal dysostosis
| 358 | Gitelman syndrome
| 242 | 46,XY complete gonadal dysgenesis
| 2052 | Fraser syndrome
| 1354 | Heart defects-limb shortening syndrome
| 1358 | Carey-Fineman-Ziter syndrome
| 557 | Isolated anorectal malformation
| 111 | Barth syndrome
| 10 | 48,XXYY syndrome
| 1308 | C syndrome
| 150 | Nasopharyngeal carcinoma
| 133 | Chronic beryllium disease
| 1552 | Currarino syndrome
| 1450 | Ring chromosome 8 syndrome
| 1448 | Ring chromosome 6 syndrome
| 1581 | Non-distal monosomy 10q
| 1580 | Distal monosomy 10p
| 1437 | Ring chromosome 1 syndrome
| 172 | Progressive familial intrahepatic cholestasis
| 1447 | Ring chromosome 4 syndrome
| 1444 | Ring chromosome 20 syndrome
| 1439 | Ring chromosome 12 syndrome
| 1438 | Ring chromosome 10 syndrome
| 2615 | Nakajo-Nishimura syndrome
| 624 | Familial multiple nevi flammei
| 2601 | Myopathy-growth delay-intellectual disability-hypospadias syndrome
| 3306 | Duplication/inversion 15q11
| 3375 | Trisomy X
| 3310 | Tetrasomy 9p
| 3000 | Familial male-limited precocious puberty
| 680 | Normokalemic periodic paralysis
| 3305 | Tetraploidy
| 3176 | Spina bifida-hypospadias syndrome
| 1708 | Mosaic trisomy 16
| 1711 | Mosaic trisomy 17

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