orphafolder

| 352309 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
| 352306 | Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
| 352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
| 352563 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
| 352540 | Oncogenic osteomalacia
| 352479 | Autosomal recessive limb-girdle muscular dystrophy type 2U
| 352456 | Mitochondrial DNA maintenance syndrome
| 352470 | DNA2-related mitochondrial DNA deletion syndrome
| 352487 | Digital anomalies-intellectual disability-short stature syndrome
| 352490 | Autism spectrum disorder due to AUTS2 deficiency
| 294951 | Congenital joint dislocations
| 294949 | Joint formation defects
| 294955 | Syndrome with limb reduction defects
| 294953 | Limb overgrowth
| 294947 | Congenital deformities of fingers
| 294944 | Congenital deformities of limbs
| 294925 | Amelia
| 294927 | Intercalary limb defects
| 294415 | Renal-hepatic-pancreatic dysplasia
| 294422 | Chronic intestinal failure
| 294049 | Reunion Island Larsen-like syndrome
| 294057 | Rare nevus
| 294060 | Multiple pterygium syndrome
| 293987 | Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
| 294016 | Microcephaly-capillary malformation syndrome
| 294023 | Neonatal inflammatory skin and bowel disease
| 294026 | Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
| 293964 | Hypoinsulinemic hypoglycemia and body hemihypertrophy
| 293967 | Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
| 293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome
| 293958 | Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
| 293955 | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
| 293948 | 1p21.3 microdeletion syndrome
| 293939 | Distal Xq28 microduplication syndrome
| 293936 | EDICT syndrome
| 293925 | Lethal occipital encephalocele-skeletal dysplasia syndrome
| 293910 | Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
| 293899 | Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
| 293888 | Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
| 293864 | Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
| 293848 | Frontotemporal dementia, right temporal atrophy variant
| 293838 | Fatal infantile encephalopathy-pulmonary hypertension syndrome
| 293843 | 3MC syndrome
| 293830 | Constitutional dyserythropoietic anemia
| 293822 | MITF-related melanoma and renal cell carcinoma predisposition syndrome
| 293825 | Congenital dyserythropoietic anemia type IV
| 293812 | Fixed drug eruption
| 293815 | Toxic dermatosis
| 293807 | Ketamine-induced biliary dilatation
| 293725 | Blepharophimosis-intellectual disability syndrome, Verloes type
| 293642 | Blepharophimosis-intellectual disability syndrome
| 293707 | Blepharophimosis-intellectual disability syndrome, MKB type
| 293633 | PYCR1-related De Barsy syndrome
| 295044 | Macrodactyly of fingers
| 295047 | Macrodactyly of toes
| 295049 | Upper limb hypertrophy
| 295051 | Lower limb hypertrophy
| 295022 | Congenital pseudoarthrosis of the fibula
| 295024 | Congenital pseudoarthrosis of the radius
| 295026 | Congenital pseudoarthrosis of the ulna
| 295028 | Tibio-fibular synostosis
| 295030 | True congenital shoulder dislocation
| 295032 | Isolated congenital radial head dislocation
| 295034 | Congenital knee dislocation
| 295036 | Congenital patella dislocation
| 295012 | Syndactyly type 6
| 295020 | Congenital pseudoarthrosis of the femur
| 295018 | Congenital pseudoarthrosis of the tibia
| 295016 | Camptodactyly of fingers
| 295014 | Familial isolated clinodactyly of fingers
| 295004 | Central polydactyly
| 295002 | Hyperphalangy
| 295000 | Constriction rings syndrome
| 294977 | Congenital absence of thigh and lower leg with foot present
| 294979 | Congenital absence of both forearm and hand
| 294973 | Humeral agenesis/hypoplasia
| 294975 | Congenital absence of upper arm and forearm with hand present
| 294986 | Apodia
| 294988 | Congenital absence/hypoplasia of thumb
| 294981 | Congenital absence of both lower leg and foot
| 294983 | Acheiria
| 294963 | Popliteal pterygium syndrome
| 294957 | Dysostosis with combined reduction defects of upper and lower limbs
| 294959 | Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
| 294969 | Amelia of lower limb
| 294971 | Tetra-amelia
| 294965 | Lethal congenital contracture syndrome
| 294967 | Amelia of upper limb
| 290842 | Autoinflammatory syndrome with skin involvement
| 290849 | Rare head and neck tumor
| 289891 | Hypermethioninemia due to glycine N-methyltransferase deficiency
| 289902 | 3-methylglutaconic aciduria
| 289899 | Organic aciduria
| 289866 | Disorder of proline metabolism
| 289863 | Atypical glycine encephalopathy
| 289877 | Transient hyperammonemia of the newborn
| 289869 | Disorder of ornithine metabolism
| 290839 | Autoinflammatory syndrome with immune deficiency
| 290836 | Systemic disease with skin involvement
| 289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0

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