orphafolder

| 251019 | 2q32q33 microdeletion syndrome
| 2266 | Hypotrichosis-intellectual disability, Lopes type
| 251028 | 2q33.1 microdeletion syndrome
| 2269 | Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
| 251038 | 3q29 microduplication syndrome
| 250999 | 1q41q42 microdeletion syndrome
| 2261 | Hypospadias-intellectual disability, Goldblatt type syndrome
| 251004 | Paternal uniparental disomy of chromosome 1
| 251009 | Maternal uniparental disomy of chromosome 1
| 672 | Pallister-Hall syndrome
| 251014 | 2q31.1 microdeletion syndrome
| 455 | Superficial epidermolytic ichthyosis
| 251061 | 7q31 microdeletion syndrome
| 251066 | 8p11.2 deletion syndrome
| 2272 | Ichthyosis-oral and digital anomalies syndrome
| 251071 | 8p23.1 microdeletion syndrome
| 2274 | Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
| 251076 | 8p23.1 duplication syndrome
| 2273 | Ichthyosis follicularis-alopecia-photophobia syndrome
| 251043 | Ring chromosome 5 syndrome
| 165 | Neutral lipid storage disease
| 139 | CHILD syndrome
| 251046 | 6p22 microdeletion syndrome
| 457 | Harlequin ichthyosis
| 2271 | Congenital ichthyosis-microcephalus-tetraplegia syndrome
| 251056 | 6q25 microdeletion syndrome
| 250808 | Serpinopathy with toxic serpin polymerization
| 250805 | Serpinopathy
| 2246 | Cerebellar hypoplasia-tapetoretinal degeneration syndrome
| 250831 | Logopenic progressive aphasia
| 2249 | Ulna hypoplasia-intellectual disability syndrome
| 250811 | Serpinopathy with loss of serpin function
| 2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
| 2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome
| 2243 | Hypopituitarism-micropenis-cleft lip/palate syndrome
| 250984 | Autosomal recessive Stickler syndrome
| 2256 | Fibulo-ulnar hypoplasia-renal anomalies syndrome
| 250977 | AICA-ribosiduria
| 2257 | Primary pulmonary hypoplasia
| 2258 | Congenital unilateral pulmonary hypoplasia
| 250994 | 1q21.1 microduplication syndrome
| 250989 | 1q21.1 microdeletion syndrome
| 2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
| 250923 | Isolated aniridia
| 2251 | Thumb deformity-alopecia-pigmentation anomaly syndrome
| 250908 | Rare neoplastic disease
| 2252 | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
| 250972 | Polymicrogyria with optic nerve hypoplasia
| 2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
| 250932 | Autosomal dominant optic atrophy and peripheral neuropathy
| 251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
| 2306 | Isotretinoin-like syndrome
| 251383 | CK syndrome
| 2305 | Isotretinoin syndrome
| 251370 | Sickle cell-hemoglobin D disease syndrome
| 251375 | Sickle cell-hemoglobin E disease syndrome
| 251359 | Sickle cell-beta-thalassemia disease syndrome
| 251365 | Sickle cell-hemoglobin C disease syndrome
| 2295 | Familial articular hypermobility syndrome
| 251355 | Sickle cell disease associated with an other hemoglobin anomaly
| 2292 | Congenital bowing of long bones
| 2319 | Juberg-Hayward syndrome
| 251535 | Maternal disease-related embryofetopathy
| 251558 | Rare tumor of neuroepithelial tissue
| 251523 | Hyperzincemia and hypercalprotectinemia
| 2316 | Johnson neuroectodermal syndrome
| 251529 | Toxic or drug-related embryofetopathy
| 2315 | Johanson-Blizzard syndrome
| 251510 | 46,XY partial gonadal dysgenesis
| 251515 | Distal arthrogryposis type 10
| 2310 | Absence deformity of leg-cataract syndrome
| 2309 | Pachyonychia congenita
| 251393 | Localized junctional epidermolysis bullosa, non-Herlitz type
| 2307 | IVIC syndrome
| 251295 | Pigmented paravenous retinochoroidal atrophy
| 251290 | Parietal foramina with clavicular hypoplasia
| 2282 | Dysmorphism-short stature-deafness-disorder of sex development syndrome
| 251287 | Benign concentric annular macular dystrophy
| 251282 | Autosomal dominant spastic ataxia type 1
| 251279 | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
| 251274 | Familial hyperaldosteronism type III
| 2278 | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
| 251262 | Familial osteochondritis dissecans
| 2291 | Congenital velopharyngeal incompetence
| 251347 | Ataxia-telangiectasia-like disorder
| 251332 | Unexplained long-lasting fever/inflammatory syndrome
| 251328 | Unclassified vasculitis
| 2289 | Neuronal intranuclear inclusion disease
| 251325 | Drug-induced vasculitis
| 2290 | Microvillus inclusion disease
| 2287 | Fused mandibular incisors
| 251312 | Overlapping connective tissue disease
| 2285 | Primary basilar invagination
| 251307 | Idiopathic recurrent pericarditis
| 2286 | Solitary median maxillary central incisor syndrome
| 251304 | Infantile onset panniculitis with uveitis and systemic granulomatosis
| 254843 | Exercise intolerance with lactic acidosis
| 2674 | Cyprus facial-neuromusculoskeletal syndrome
| 254846 | Isolated oxidative phosphorylation complex disorder
| 254837 | Unspecified mitochondrial disorder

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