orphafolder

| 2409 | Lowry-MacLean syndrome
| 2405 | Thickened earlobes-conductive deafness syndrome
| 248368 | Rare thrombotic disorder due to a platelet anomaly
| 248365 | Rare thrombotic disorder due to an acquired coagulation factors defect
| 2407 | LOC syndrome
| 250165 | Genetic polycythemia
| 2412 | Dislocation of the hip-dysmorphism syndrome
| 2575 | Cystic fibrosis-gastritis-megaloblastic anemia syndrome
| 248408 | Familial hypodysfibrinogenemia
| 2410 | Hypergonadotropic hypogonadism-cataract syndrome
| 248326 | Rare hemorrhagic disorder due to a platelet anomaly
| 2399 | Nasopalpebral lipoma-coloboma syndrome
| 248315 | Rare hemorrhagic disorder due to a coagulation factors defect
| 2400 | Peripheral motor neuropathy-dysautonomia syndrome
| 248308 | Rare hemorrhagic disorder
| 2396 | Encephalocraniocutaneous lipomatosis
| 248361 | Rare thrombotic disorder due to a constitutional coagulation factors defect
| 248358 | Rare thrombotic disorder due to a coagulation factors defect
| 248347 | Rare hemorrhagic disorder due to an acquired platelet anomaly
| 248340 | Isolated delta-storage pool disease
| 2388 | Choreoacanthocytosis
| 248111 | Juvenile Huntington disease
| 2387 | Leukonychia totalis
| 2386 | Leukoencephalopathy-palmoplantar keratoderma syndrome
| 248095 | Primary hypertrophic osteoarthropathy
| 2379 | Early-onset parkinsonism-intellectual disability syndrome
| 248302 | Rare acquired deficiency anemia
| 2391 | Congenitally short costocoracoid ligament
| 248293 | Rare deficiency anemia
| 2390 | Lichtenstein syndrome
| 248296 | Constitutional deficiency anemia
| 2389 | Lewis-Pashayan syndrome
| 247834 | Occult macular dystrophy
| 2371 | Lethal Larsen-like syndrome
| 247839 | Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies
| 2369 | Limb body wall complex
| 247820 | Ectodermal dysplasia-syndactyly syndrome
| 247827 | Ectodermal dysplasia-cutaneous syndactyly syndrome
| 247861 | Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies
| 2378 | Laurin-Sandrow syndrome
| 247868 | NLRP12-associated hereditary periodic fever syndrome
| 247846 | Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies
| 2375 | Laryngeal abductor paralysis-intellectual disability syndrome
| 247854 | Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies
| 2456 | Familial supernumerary nipples
| 2457 | Mandibuloacral dysplasia
| 2451 | Mucocutaneous venous malformations
| 2453 | Malpuech syndrome
| 2439 | Patterson-Stevenson-Fontaine syndrome
| 244305 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis
| 2440 | Isolated split hand-split foot malformation
| 244283 | Biliary atresia with splenic malformation syndrome
| 244310 | RFT1-CDG
| 296 | Ollier disease
| 2437 | Czeizel-Losonci syndrome
| 244275 | De novo thrombotic microangiopathy after kidney transplantation
| 2438 | Hand-foot-genital syndrome
| 243343 | Dimethylglycine dehydrogenase deficiency
| 1019 | Epstein syndrome
| 243367 | Acute fatty liver of pregnancy
| 2435 | Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
| 2429 | Macrocephaly-spastic paraplegia-dysmorphism syndrome
| 2432 | Macrosomia-microphthalmia-cleft palate syndrome
| 2419 | Lymphedema-ptosis syndrome
| 2489 | Upper limb defect-eye and ear abnormalities syndrome
| 247353 | Generalized pustular psoriasis
| 247262 | Hyperphosphatasia-intellectual disability syndrome
| 247257 | Inhalational anthrax
| 2487 | Lower limb malformation-hypospadias syndrome
| 247245 | Superficial siderosis
| 247242 | Acquired ataxia
| 2485 | Melorheostosis
| 2486 | Transverse limb deficiency-hemangioma syndrome
| 247239 | Non-hereditary degenerative ataxia
| 247234 | Sporadic adult-onset ataxia of unknown etiology
| 2483 | Melkersson-Rosenthal syndrome
| 2484 | Melnick-Needles syndrome
| 247203 | Collecting duct carcinoma
| 247198 | Progressive cerebello-cerebral atrophy
| 2481 | Neurocutaneous melanocytosis
| 247165 | Infantile mercury poisoning
| 2482 | Melhem-Fahl syndrome
| 2477 | Megalencephaly
| 2479 | Megalocornea-intellectual disability syndrome
| 2475 | White forelock with malformations
| 2476 | Dysraphism-cleft lip/palate-limb reduction defects syndrome
| 2473 | McKusick-Kaufman syndrome
| 2471 | McDonough syndrome
| 2470 | Matthew-Wood syndrome
| 561 | Marshall-Smith syndrome
| 2464 | Marfanoid syndrome, De Silva type
| 559 | Marinesco-Sjögren syndrome
| 2463 | Marfanoid habitus-autosomal recessive intellectual disability syndrome
| 2462 | Shprintzen-Goldberg syndrome
| 2461 | Marden-Walker syndrome
| 251630 | Anaplastic oligodendroglioma
| 2172 | Microcephaly-glomerulonephritis-marfanoid habitus syndrome
| 251633 | Low-grade ependymoma
| 251636 | Ependymoma
| 2174 | Hunter-Carpenter-McDonald syndrome

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