orphafolder

| 374 | Goldenhar syndrome
| 2020 | Congenital fiber-type disproportion myopathy
| 2053 | Freeman-Sheldon syndrome
| 1931 | Frontal encephalocele
| 295 | Fetal parvovirus syndrome
| 1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
| 1880 | Ebstein malformation
| 255 | Dopa-responsive dystonia
| 1915 | Fetal alcohol syndrome
| 1885 | Isolated ectopia lentis
| 1851 | Multicystic dysplastic kidney
| 660 | Omphalocele
| 180312 | Rare vulvovaginal tumor
| 635 | Neuroblastoma
| 2612 | Linear nevus sebaceus syndrome
| 2635 | Metatropic dysplasia
| 2655 | Thanatophoric dysplasia
| 180303 | Rare non-malformative uterine adnexal disease
| 606 | Proximal myotonic myopathy
| 705 | Pendred syndrome
| 180779 | Syndromic diaphragmatic or thoracic malformation
| 2801 | Juvenile Paget disease
| 180776 | Non-syndromic diaphragmatic or thoracic malformation
| 884 | Tetrasomy 12p
| 180772 | Rare disease with autism
| 180766 | Malformative syndrome with dentinogenesis imperfecta
| 2785 | Osteopetrosis with renal tubular acidosis
| 2744 | Horizontal gaze palsy with progressive scoliosis
| 2746 | Opsismodysplasia
| 2971 | Peroxisomal acyl-CoA oxidase deficiency
| 2970 | Prune belly syndrome
| 744 | Proteus syndrome
| 2903 | Familial spontaneous pneumothorax
| 2901 | Neuralgic amyotrophy
| 718 | Isolated Pierre Robin syndrome
| 180821 | Rare gastroesophageal tumor
| 180824 | Rare tumor of pancreas
| 717 | Catecholamine-producing tumor
| 181387 | Rare disorder with hypogonadotropic hypogonadism
| 290 | Congenital rubella syndrome
| 3071 | Costello syndrome
| 181390 | Hypogonadotropic hypogonadism associated with other endocrinopathies
| 181381 | Other rare diabetes mellitus
| 181384 | Rare hypothalamic or pituitary disease
| 763 | Pycnodysostosis
| 181371 | Rare diabetes mellitus type 1
| 181376 | Rare diabetes mellitus type 2
| 2983 | Disorder of sex development-intellectual disability syndrome
| 2982 | 46,XX disorder of sex development
| 2981 | Pseudo-Zellweger syndrome
| 181368 | Rare insulin-resistance syndrome
| 180202 | Rare non-malformative breast disease
| 2301 | Congenital short bowel syndrome
| 180199 | Rare non-malformative gynecologic or obstetric disease
| 469 | Hereditary fructose intolerance
| 180208 | Anomaly of puberty or/and menstrual cycle
| 2308 | Jacobsen syndrome
| 180205 | Rare non-malformative uterovaginal or vulvovaginal disease
| 2318 | Joubert syndrome with oculorenal defect
| 2253 | Foveal hypoplasia-presenile cataract syndrome
| 180188 | Isolated congenital breast hypoplasia/aplasia
| 180182 | Supernumerary breasts
| 180193 | Syndromic breast hypoplasia/aplasia
| 2300 | Multiple intestinal atresia
| 180226 | Embryonal carcinoma
| 502 | Trichorhinophalangeal syndrome type 2
| 180229 | Polyembryoma
| 2370 | Larsen-like osseous dysplasia-short stature syndrome
| 477 | KID syndrome
| 2343 | Isolated cloverleaf skull syndrome
| 180220 | Rare uterine adnexal tumor
| 2346 | Angioosteohypertrophic syndrome
| 180247 | Vaginal carcinoma
| 506 | Leigh syndrome
| 180250 | Rare breast tumor
| 2430 | Congenital macroglossia
| 180253 | Rare benign breast tumor
| 2414 | Congenital pulmonary lymphangiectasia
| 2373 | Congenital laryngomalacia
| 180234 | Mixed germ cell tumor
| 180237 | Benign tumor of fallopian tubes
| 2377 | Laurence-Moon syndrome
| 2374 | Congenital laryngeal web
| 180242 | Malignant tumor of fallopian tubes
| 2466 | MASA syndrome
| 180275 | Paget disease of the nipple
| 560 | Marshall syndrome
| 587 | Muir-Torre syndrome
| 570 | Moebius syndrome
| 1505 | Short rib-polydactyly syndrome
| 180257 | Rare malignant breast tumor
| 180261 | Phyllodes tumor of the breast
| 2431 | Central bilateral macrogyria
| 180267 | Giant adenofibroma of the breast
| 2444 | Congenital pulmonary airway malformation
| 612 | Potassium-aggravated myotonia
| 179494 | Obesity due to leptin receptor gene deficiency
| 716 | Phenylketonuria
| 179490 | Obesity due to congenital leptin resistance
| 180071 | Unilateral aplasia of the Müllerian ducts

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