orphafolder

| 2027 | Gingival fibromatosis-progressive deafness syndrome
| 158796 | Classic mast cell leukemia
| 2021 | Fibrochondrogenesis
| 158799 | Aleukemic mast cell leukemia
| 2019 | Femur-fibula-ulna complex
| 2024 | Hereditary gingival fibromatosis
| 2022 | Endocardial fibroelastosis
| 2824 | Paraplegia-intellectual disability-hyperkeratosis syndrome
| 2045 | FLOTCH syndrome
| 2044 | Floating-Harbor syndrome
| 2031 | Hepatic fibrosis-renal cysts-intellectual disability syndrome
| 2029 | Multiple non-ossifying fibromatosis
| 2036 | Scalp-ear-nipple syndrome
| 158769 | Plaque-form urticaria pigmentosa
| 2006 | Median cleft lip/mandibule
| 158766 | Typical urticaria pigmentosa
| 2007 | Alar cartilages hypoplasia-coloboma-telecanthus syndrome
| 2003 | Cleft lip/palate-deafness-sacral lipoma syndrome
| 158687 | Lethal acantholytic epidermolysis bullosa
| 158684 | Epidermolysis bullosa simplex with pyloric atresia
| 2004 | Laryngotracheoesophageal cleft
| 158681 | Epidermolysis bullosa simplex with circinate migratory erythema
| 2001 | Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
| 158676 | Dominant dystrophic epidermolysis bullosa, nails only
| 158673 | Acral dystrophic epidermolysis bullosa
| 158668 | Epidermolysis bullosa simplex due to plakophilin deficiency
| 2016 | Cleft palate-lateral synechia syndrome
| 158793 | Lymphoadenopathic mastocytosis with eosinophilia
| 2017 | Sternal cleft
| 2013 | Cleft palate-large ears-small head syndrome
| 2010 | Cleft palate-stapes fixation-oligodontia syndrome
| 158778 | Isolated bone marrow mastocytosis
| 158775 | Smouldering systemic mastocytosis
| 2008 | Acrocardiofacial syndrome
| 158772 | Nodular urticaria pigmentosa
| 1987 | Femoral agenesis/hypoplasia
| 1986 | Gollop-Wolfgang complex
| 1984 | Fechtner syndrome
| 1980 | Bilateral striopallidodentate calcinosis
| 158661 | Suprabasal epidermolysis bullosa simplex
| 1997 | Blepharo-cheilo-odontic syndrome
| 158665 | Basal epidermolysis bullosa simplex
| 1995 | Cleft lip-retinopathy syndrome
| 1993 | Pai syndrome
| 1988 | Femoral-facial syndrome
| 247775 | Mayer-Rokitansky-Küster-Hauser syndrome type 1
| 2348 | Familial partial lipodystrophy, Dunnigan type
| 247768 | Müllerian aplasia and hyperandrogenism
| 2351 | Kousseff syndrome
| 2353 | Schilbach-Rott syndrome
| 247790 | FTH1-related iron overload
| 2355 | Kumar-Levick syndrome
| 247798 | MUTYH-related attenuated familial adenomatous polyposis
| 247794 | Juvenile cataract-microcornea-renal glucosuria syndrome
| 247815 | Autosomal recessive ataxia due to PEX10 deficiency
| 247806 | APC-related attenuated familial adenomatous polyposis
| 2363 | Lacrimoauriculodentodigital syndrome
| 247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
| 2340 | Keratosis follicularis spinulosa decalvans
| 247685 | Odontohypophosphatasia
| 2342 | Haim-Munk syndrome
| 247709 | Multiple endocrine neoplasia type 2B
| 247698 | Multiple endocrine neoplasia type 2A
| 247724 | Idiopathic eosinophilic myositis
| 247718 | Inflammatory myopathy with abundant macrophages
| 247765 | X-linked cerebellar ataxia
| 485 | Kniest dysplasia
| 2347 | Lethal Kniest-like dysplasia
| 247762 | Lipoblastoma
| 247585 | Citrullinemia type II
| 2333 | Kenny-Caffey syndrome
| 247598 | Neonatal intrahepatic cholestasis due to citrin deficiency
| 2332 | KBG syndrome
| 247604 | Juvenile primary lateral sclerosis
| 247623 | Perinatal lethal hypophosphatasia
| 247638 | Prenatal benign hypophosphatasia
| 2338 | Isolated punctate palmoplantar keratoderma
| 247651 | Infantile hypophosphatasia
| 2337 | Non-epidermolytic palmoplantar keratoderma
| 247667 | Childhood-onset hypophosphatasia
| 2339 | Keratosis follicularis-dwarfism-cerebral atrophy syndrome
| 247676 | Adult hypophosphatasia
| 494 | Keratoderma hereditarium mutilans
| 2322 | Kabuki syndrome
| 247378 | Autosomal recessive secondary polycythemia not associated with VHL gene
| 2321 | Jung-Wolff-Back-Stahl syndrome
| 247511 | Autosomal dominant secondary polycythemia
| 2324 | Osteopenia-intellectual disability-sparse hair syndrome
| 2323 | Sanjad-Sakati syndrome
| 247522 | Primary ciliary dyskinesia-retinitis pigmentosa syndrome
| 247525 | Citrullinemia type I
| 2325 | Epidermolysis bullosa simplex with anodontia/hypodontia
| 247546 | Acute neonatal citrullinemia type I
| 247573 | Adult-onset citrullinemia type I
| 2329 | Karsch-Neugebauer syndrome
| 247582 | Citrin deficiency
| 2328 | Kapur-Toriello syndrome
| 248404 | Rare thrombotic disorder due to an acquired platelet anomaly
| 2408 | Lowe-Kohn-Cohen syndrome
| 248401 | Rare thrombotic disorder due to a constitutional platelet anomaly

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