orphafolder

| 140477 | Autosomal recessive hereditary sensory and autonomic neuropathy
| 1506 | Thin ribs-tubular bones-dysmorphism syndrome
| 140456 | Autosomal dominant hereditary axonal motor and sensory neuropathy
| 140459 | Autosomal recessive hereditary demyelinating motor and sensory neuropathy
| 1508 | Coxoauricular syndrome
| 140465 | Autosomal dominant distal hereditary motor neuropathy
| 1507 | Autosomal recessive Robinow syndrome
| 1517 | Hypertrichotic osteochondrodysplasia, Cantu type
| 140503 | Channelopathy
| 1519 | Hypertelorism, Teebi type
| 1520 | Craniofrontonasal dysplasia
| 1513 | Craniodiaphyseal dysplasia
| 1514 | Craniodigital-intellectual disability syndrome
| 140481 | Autosomal dominant slowed nerve conduction velocity
| 140500 | Neurological channelopathy
| 1515 | Cranioectodermal dysplasia
| 1516 | Craniofacial dyssynostosis
| 1527 | Craniosynostosis, Philadelphia type
| 140653 | Neuro-ophthalmological disease
| 1528 | Craniotelencephalic dysplasia
| 1529 | Craniofacial-deafness-hand syndrome
| 1521 | Craniofrontonasal dysplasia-Poland anomaly syndrome
| 1522 | Craniometaphyseal dysplasia
| 1525 | Cranio-osteoarthropathy
| 1969 | Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
| 1968 | Flat face-microstomia-ear anomaly syndrome
| 1970 | Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
| 1973 | Faciocardiorenal syndrome
| 1972 | Lethal faciocardiomelic dysplasia
| 1974 | Autosomal recessive faciodigitogenital syndrome
| 1962 | Exostoses-anetodermia-brachydactyly type E syndrome
| 1964 | Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
| 1822 | Dysplasia epiphysealis hemimelica
| 1824 | Lowry-Wood syndrome
| 1952 | Pacman dysplasia
| 1954 | Congenital lethal erythroderma
| 1955 | Spinocerebellar ataxia type 34
| 1956 | Erythromelalgia
| 1926 | Diabetic embryopathy
| 2209 | Maternal phenylketonuria
| 1927 | Emery-Nelson syndrome
| 1937 | Eng-Strom syndrome
| 1940 | Shoulder and thorax deformity-congenital heart disease syndrome
| 1920 | Toluene embryopathy
| 1919 | Phenobarbital embryopathy
| 1917 | Fetal methylmercury syndrome
| 1923 | Methimazole embryofetopathy
| 1912 | Fetal hydantoin syndrome
| 1918 | Fetal minoxidil syndrome
| 1911 | Cocaine embryofetopathy
| 1910 | Fetal iodine syndrome
| 1916 | Diethylstilbestrol syndrome
| 294 | Fetal cytomegalovirus syndrome
| 1914 | Vitamin K antagonist embryofetopathy
| 1913 | Fetal trimethadione syndrome
| 1896 | EEC syndrome
| 1897 | EEM syndrome
| 1908 | Aminopterin/methotrexate embryofetopathy
| 1909 | Indomethacin embryofetopathy
| 1906 | Fetal valproate syndrome
| 1888 | Ectrodactyly-ectodermal dysplasia without clefting syndrome
| 1889 | Ectrodactyly-cleft palate syndrome
| 1895 | Edinburgh malformation syndrome
| 1891 | Intellectual disability-spasticity-ectrodactyly syndrome
| 1892 | Ectrodactyly-polydactyly syndrome
| 1816 | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
| 1807 | Focal facial dermal dysplasia type III
| 1818 | Ectodermal dysplasia, trichoodontoonychial type
| 1883 | Ectodermal dysplasia-sensorineural deafness syndrome
| 1882 | Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
| 1875 | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
| 1873 | Jalili syndrome
| 1879 | Melorheostosis with osteopoikilosis
| 1867 | Hereditary bullous dystrophy, macular type
| 1872 | Cone rod dystrophy
| 1871 | Progressive cone dystrophy
| 1860 | Thanatophoric dysplasia type 1
| 1861 | Thoracic dysplasia-hydrocephalus syndrome
| 1865 | Dyssegmental dysplasia, Silverman-Handmaker type
| 1858 | Skeletal dysplasia-epilepsy-short stature syndrome
| 254 | Spondylometaphyseal dysplasia
| 1850 | Renal dysplasia-megalocystis-sirenomelia syndrome
| 1852 | X-linked retinal dysplasia
| 1842 | Bone dysplasia, lethal Holmgren type
| 1839 | Hereditary mucoepithelial dysplasia
| 1838 | Metaphyseal dysplasia without hypotrichosis
| 1837 | Ulna metaphyseal dysplasia syndrome
| 1836 | Mesomelic dysplasia, Kantaputra type
| 1834 | Axial mesodermal dysplasia spectrum
| 1831 | De Hauwere syndrome
| 1830 | Schimke immuno-osseous dysplasia
| 1825 | Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
| 251 | Multiple epiphyseal dysplasia
| 1811 | Odontomicronychial dysplasia
| 1812 | Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
| 1808 | Hidrotic ectodermal dysplasia, Christianson-Fourie type
| 1809 | Hidrotic ectodermal dysplasia, Halal type
| 1804 | Dyssegmental dysplasia-glaucoma syndrome
| 1806 | Ectodermal dysplasia-blindness syndrome
| 1802 | Ghosal hematodiaphyseal dysplasia

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