orphafolder

| 309515 | Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
| 309526 | Disorder of multiple glycosylation
| 309803 | Rhizomelic chondrodysplasia punctata type 3
| 309810 | Disorder of peroxisomal alpha-, beta- and omega-oxidation
| 309789 | Rhizomelic chondrodysplasia punctata type 1
| 309796 | Rhizomelic chondrodysplasia punctata type 2
| 309447 | Disorder of protein O-glycosylation
| 309450 | Disorder of O-xylosylglycan synthesis
| 309340 | Disorder of lysosomal-related organelles
| 309347 | Disorder of protein N-glycosylation
| 309469 | Disorder of O-mannosylglycan synthesis
| 309505 | Disorder of fucoglycosan synthesis
| 309458 | Disorder of O-N-acetylgalactosaminylglycan synthesis
| 309463 | Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
| 314029 | High bone mass osteogenesis imperfecta
| 314022 | Gastric adenocarcinoma and proximal polyposis of the stomach
| 314017 | Idiopathic linear interstitial keratitis
| 314002 | Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
| 313947 | 2q23.1 microduplication syndrome
| 313936 | PENS syndrome
| 313920 | Epstein-Barr virus-associated gastric carcinoma
| 313906 | Congenital pancreatic cyst
| 313892 | Developmental and speech delay due to SOX5 deficiency
| 313884 | 12p12.1 microdeletion syndrome
| 313855 | FGFR2-related bent bone dysplasia
| 313850 | Infantile cerebellar-retinal degeneration
| 313846 | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
| 313838 | Coats plus syndrome
| 313800 | Optic nerve edema-splenomegaly syndrome
| 313808 | Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
| 313781 | 20p13 microdeletion syndrome
| 313795 | Jawad syndrome
| 313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
| 314603 | Autosomal recessive spastic ataxia with leukoencephalopathy
| 314597 | Chudley-McCullough syndrome
| 314613 | Growing teratoma syndrome
| 314575 | Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
| 314572 | Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
| 314588 | Distal tetrasomy 15q
| 314585 | 15q overgrowth syndrome
| 314485 | Young adult-onset distal hereditary motor neuropathy
| 314566 | Primary progressive apraxia of speech
| 314555 | Craniofacial dysplasia-osteopenia syndrome
| 314466 | Atypical Meigs syndrome
| 314459 | Pseudo-Meigs syndrome
| 314478 | Ovarian fibrothecoma
| 314473 | Ovarian fibroma
| 314422 | Ameloblastic carcinoma
| 314425 | Rare odontogenic tumor
| 314432 | Spigelian hernia-cryptorchidism syndrome
| 314451 | Meigs syndrome
| 314394 | Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
| 314399 | Autosomal dominant aplasia and myelodysplasia
| 314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
| 314419 | Ameloblastoma
| 314373 | Chronic diarrhea due to guanylate cyclase 2C overactivity
| 314376 | Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
| 314381 | Hereditary sensory and autonomic neuropathy type 6
| 314389 | Xq12-q13.3 duplication syndrome
| 314034 | 7p22.1 microduplication syndrome
| 314041 | Marfanoid habitus-inguinal hernia-advanced bone age syndrome
| 314051 | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
| 306756 | Epilepsy and/or ataxia with myoclonus as major feature
| 306759 | Non progressive epilepsy and/or ataxia with myoclonus as a major feature
| 306750 | Primary myoclonus
| 306753 | Rare disease with myoclonus as a major feature
| 306768 | Rare paroxysmal movement disorder
| 306773 | Hyperekplexia
| 306765 | Motor stereotypies
| 307055 | Rare parkinsonian syndrome due to genetic neurodegenerative disease
| 307058 | Miscellaneous movement disorder due to genetic neurodegenerative disease
| 306776 | Sporadic hyperekplexia
| 307052 | Rare genetic parkinsonian disorder
| 307067 | Rare genetic disease with myoclonus as a major feature
| 307141 | Diffuse palmoplantar keratoderma
| 307061 | Rare genetic tremor disorder
| 307064 | Rare genetic myoclonus
| 306682 | Manganese poisoning
| 306679 | Rare parkinsonian syndrome due to intoxication
| 306674 | Kufor-Rakeb syndrome
| 306669 | Hemiparkinsonism-hemiatrophy syndrome
| 306708 | Frontotemporal neurodegeneration with movement disorder
| 306695 | Miscellaneous movement disorder due to neurodegenerative disease
| 306692 | Cyanide-induced parkinsonism
| 306686 | Carbon monoxide-induced parkinsonism
| 306727 | Postinfectious autoimmune disease with chorea
| 306719 | Neurodegenerative disease with chorea
| 306715 | Rare choreic movement disorder
| 306712 | Rare tremor disorder
| 306747 | Rare myoclonus
| 306741 | Hemidystonia-hemiatrophy syndrome
| 306734 | Primary dystonia, DYT21 type
| 306731 | Sydenham chorea
| 308166 | Erythrokeratoderma variabilis progressiva
| 308380 | Methylcobalamin deficiency type cblDv1
| 308386 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
| 308393 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
| 308400 | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
| 308407 | Disorder of beta and omega amino acid metabolism
| 308410 | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

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