orphafolder

| 3289 | Taurodontism
| 3291 | Teebi-Shaltout syndrome
| 3293 | Telecanthus-hypertelorism-strabismus-pes cavus syndrome
| 3292 | Tel Hashomer camptodactyly syndrome
| 279882 | Spasmus nutans
| 3294 | Extensor tendons of finger anomalies
| 279888 | Acute endophthalmitis
| 279891 | Chronic endophthalmitis
| 279894 | Toxic maculopathy due to antimalarial drugs
| 3301 | Tetraamelia-multiple malformations syndrome
| 279897 | Primary oculocerebral lymphoma
| 279904 | Primary intraocular lymphoma
| 279911 | Primary organ-specific lymphoma
| 3304 | Fallot complex-intellectual disability-growth delay syndrome
| 3312 | Thalidomide embryopathy
| 279914 | Intermediate uveitis
| 279919 | Infectious posterior uveitis
| 276198 | Spinocerebellar ataxia type 36
| 3225 | Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
| 276193 | Spinocerebellar ataxia type 35
| 3226 | Deafness-lymphedema-leukemia syndrome
| 276183 | Spinocerebellar ataxia type 32
| 3224 | Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
| 276174 | Idiopathic recurrent stupor
| 276238 | Machado-Joseph disease type 1
| 276234 | Non-syndromic male infertility due to sperm motility disorder
| 276223 | Mucopolysaccharidosis type 6, slowly progressing
| 276212 | Mucopolysaccharidosis type 6, rapidly progressing
| 3230 | Deafness-oligodontia syndrome
| 3231 | Deafness-onychodystrophy syndrome
| 276244 | Machado-Joseph disease type 3
| 276241 | Machado-Joseph disease type 2
| 3235 | Progressive deafness with stapes fixation
| 3236 | Conductive deafness-ptosis-skeletal anomalies syndrome
| 3232 | Deafness-ear malformation-facial palsy syndrome
| 3233 | Cochleosaccular degeneration-cataract syndrome
| 3241 | Deafness-craniofacial syndrome
| 276280 | Hemihyperplasia-multiple lipomatosis syndrome
| 3239 | Deafness-vitiligo-achalasia syndrome
| 276399 | Familial multinodular goiter
| 3238 | Cardiospondylocarpofacial syndrome
| 3237 | Multiple synostoses syndrome
| 3246 | Symphalangism with multiple anomalies of hands and feet
| 276413 | 10q22.3q23.3 microdeletion syndrome
| 276402 | Limbic encephalitis with caspr2 antibodies
| 3242 | Renpenning syndrome
| 276405 | Hyperbiliverdinemia
| 3250 | Proximal symphalangism
| 3248 | Distal symphalangism
| 276422 | 10q22.3q23.3 microduplication syndrome
| 276429 | Hypnic headache
| 276525 | Familial hyperinsulinism
| 3255 | Filippi syndrome
| 276556 | Hyperinsulinism due to UCP2 deficiency
| 276432 | Ogden syndrome
| 3253 | Zlotogora-Ogur syndrome
| 276435 | Lower motor neuron syndrome with late-adult onset
| 911 | Combined immunodeficiency due to ZAP70 deficiency
| 3325 | Heparin-induced thrombocytopenia
| 746 | Mitochondrial trifunctional protein deficiency
| 943 | Malonic aciduria
| 621 | Hereditary methemoglobinemia
| 2089 | Glycogen storage disease due to hepatic glycogen synthase deficiency
| 412 | Dysbetalipoproteinemia
| 743 | Severe hereditary thrombophilia due to congenital protein S deficiency
| 424 | Familial hyperthyroidism due to mutations in TSH receptor
| 325 | Congenital factor II deficiency
| 343 | Hyperimmunoglobulinemia D with periodic fever
| 572 | Immunodeficiency by defective expression of HLA class 2
| 3324 | Familial thrombomodulin anomalies
| 1930 | Herpes simplex virus encephalitis
| 158 | Systemic primary carnitine deficiency
| 202948 | Syndromic microphthalmia-anophthalmia-coloboma
| 202940 | Anomaly of puberty or/and menstrual cycle of genetic origin
| 2056 | Essential fructosuria
| 206436 | Infantile Krabbe disease
| 820 | Sneddon syndrome
| 206428 | Hypoxanthine-guanine phosphoribosyltransferase deficiency
| 1945 | Rolandic epilepsy
| 440 | Familial hypospadias
| 832 | Succinyl-CoA:3-ketoacid CoA transferase deficiency
| 6 | 3-methylcrotonyl-CoA carboxylase deficiency
| 20 | 3-hydroxy-3-methylglutaric aciduria
| 714 | Hemolytic anemia due to diphosphoglycerate mutase deficiency
| 712 | Hemolytic anemia due to glucophosphate isomerase deficiency
| 2831 | Rhizomelic dysplasia, Patterson-Lowry type
| 1129 | Arachnodactyly-abnormal ossification-intellectual disability syndrome
| 206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
| 1383 | Cataract-deafness-hypogonadism syndrome
| 206538 | Malignant non-dysgerminomatous germ cell tumor of ovary
| 206554 | Autosomal recessive limb-girdle muscular dystrophy type 2M
| 1849 | Infundibulopelvic stenosis-multicystic kidney syndrome
| 1524 | Craniomicromelic syndrome
| 206549 | Autosomal recessive limb-girdle muscular dystrophy type 2L
| 206564 | Autosomal recessive limb-girdle muscular dystrophy type 2O
| 1123 | Caudal appendage-deafness syndrome
| 206559 | Autosomal recessive limb-girdle muscular dystrophy type 2N
| 206572 | Overlap myositis
| 3263 | Syngnathia-cleft palate syndrome
| 206569 | Immune-mediated necrotizing myopathy

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