ValueSet: EHDSIRareDisease
Id: eHDSIRareDisease
Title: "eHDSI Rare Disease"
Description: "The Value Set is used to describe the problems and medication reasons."

* ^url = "http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease"
* ^experimental = false
* ^name = "EHDSIRareDisease"
* ^identifier.system = "urn:ietf:rfc:3986"
* ^identifier.value = "urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63"

* https://www.orpha.net#18 "Distal renal tubular acidosis"
* https://www.orpha.net#26 "Methylmalonic acidemia with homocystinuria"
* https://www.orpha.net#35 "Propionic acidemia"
* https://www.orpha.net#36 "Acrocallosal syndrome"
* https://www.orpha.net#49 "Penile agenesis"
* https://www.orpha.net#76 "Strongyloidiasis"
* https://www.orpha.net#93 "Aspartylglucosaminuria"
* https://www.orpha.net#96 "Ataxia with vitamin E deficiency"
* https://www.orpha.net#123 "Björnstad syndrome"
* https://www.orpha.net#456369 "Polyglucosan body myopathy type 2"
* https://www.orpha.net#457083 "Isolated splenogonadal fusion"
* https://www.orpha.net#457223 "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect"
* https://www.orpha.net#457265 "Progressive myoclonic epilepsy type 9"
* https://www.orpha.net#457485 "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"
* https://www.orpha.net#459056 "Autosomal recessive spastic paraplegia type 75"
* https://www.orpha.net#464288 "Short stature-brachydactyly-obesity-global developmental delay syndrome"
* https://www.orpha.net#464318 "Verrucous hemangioma"
* https://www.orpha.net#464359 "Benign metanephric tumor"
* https://www.orpha.net#466650 "Exercise-induced malignant hyperthermia"
* https://www.orpha.net#466688 "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"
* https://www.orpha.net#466784 "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"
* https://www.orpha.net#468635 "Cryptogenic multifocal ulcerous stenosing enteritis"
* https://www.orpha.net#476093 "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"
* https://www.orpha.net#476119 "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"
* https://www.orpha.net#477787 "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"
* https://www.orpha.net#477993 "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"
* https://www.orpha.net#478664 "Hereditary sensory and autonomic neuropathy type 8"
* https://www.orpha.net#480483 "Progressive familial intrahepatic cholestasis type 4"
* https://www.orpha.net#480501 "Choledochal cyst"
* https://www.orpha.net#480512 "Idiopathic ductopenia"
* https://www.orpha.net#480528 "Lethal hydranencephaly-diaphragmatic hernia syndrome"
* https://www.orpha.net#480553 "Aneurysmal bone cyst"
* https://www.orpha.net#480851 "Hereditary thrombocytopenia with early-onset myelofibrosis"
* https://www.orpha.net#485426 "Isolated congenital hepatic fibrosis"
* https://www.orpha.net#487809 "Pediatric collagenous gastritis"
* https://www.orpha.net#488437 "SIX2-related frontonasal dysplasia"
* https://www.orpha.net#488627 "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"
* https://www.orpha.net#495844 "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy"
* https://www.orpha.net#495875 "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"
* https://www.orpha.net#496641 "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"
* https://www.orpha.net#498251 "Menstrual cycle-dependent periodic fever"
* https://www.orpha.net#500163 "Witteveen-Kolk syndrome"
* https://www.orpha.net#506353 "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction"
* https://www.orpha.net#508476 "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome"
* https://www.orpha.net#508488 "8q24.3 microdeletion syndrome"
* https://www.orpha.net#508523 "Hyperphenylalaninemia due to DNAJC12 deficiency"
* https://www.orpha.net#519398 "Isolated foveal hypoplasia"
* https://www.orpha.net#521219 "Mirizzi syndrome"
* https://www.orpha.net#525731 "Pediatric-onset Graves disease"
* https://www.orpha.net#528091 "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"
* https://www.orpha.net#529468 "Monoclonal mast cell activation syndrome"
* https://www.orpha.net#529831 "Letrozole toxicity"
* https://www.orpha.net#529962 "17q24.2 microdeletion syndrome"
* https://www.orpha.net#529980 "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome"
* https://www.orpha.net#530033 "Dermoid or epidermoid cyst of the central nervous system"
* https://www.orpha.net#530303 "Progressive dementia with neuroserpin inclusion bodies"
* https://www.orpha.net#538574 "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome"
* https://www.orpha.net#538963 "Combined immunodeficiency due to ITK deficiency"
* https://www.orpha.net#541423 "Growth delay-intellectual disability-hepatopathy syndrome"
* https://www.orpha.net#542585 "Auditory neuropathy-optic atrophy syndrome"
* https://www.orpha.net#544472 "Atypical hemolytic uremic syndrome with complement gene abnormality"
* https://www.orpha.net#544578 "Congenital primary megaureter, refluxing and obstructed form"
* https://www.orpha.net#544602 "Congenital myopathy with reduced type 2 muscle fibers"
* https://www.orpha.net#558411 "Idiopathic gastroparesis"
* https://www.orpha.net#563666 "Serous cystadenoma of childhood"
* https://www.orpha.net#144 "Lynch syndrome"
* https://www.orpha.net#156 "Carnitine palmitoyl transferase 1A deficiency"
* https://www.orpha.net#168 "Loose anagen syndrome"
* https://www.orpha.net#189 "Hidrotic ectodermal dysplasia"
* https://www.orpha.net#193 "Cohen syndrome"
* https://www.orpha.net#199 "Cornelia de Lange syndrome"
* https://www.orpha.net#212 "Cystathioninuria"
* https://www.orpha.net#222 "Erosive pustular dermatosis of the scalp"
* https://www.orpha.net#233 "Duane retraction syndrome"
* https://www.orpha.net#245 "Nager syndrome"
* https://www.orpha.net#246 "Postaxial acrofacial dysostosis"
* https://www.orpha.net#256 "Early-onset generalized limb-onset dystonia"
* https://www.orpha.net#272 "Congenital muscular dystrophy, Fukuyama type"
* https://www.orpha.net#296 "Ollier disease"
* https://www.orpha.net#308 "Progressive myoclonic epilepsy type 1"
* https://www.orpha.net#318 "Acute erythroid leukemia"
* https://www.orpha.net#319 "Skeletal Ewing sarcoma"
* https://www.orpha.net#377 "Gorlin syndrome"
* https://www.orpha.net#382 "Guanidinoacetate methyltransferase deficiency"
* https://www.orpha.net#407 "Glycine encephalopathy"
* https://www.orpha.net#417 "Neonatal severe primary hyperparathyroidism"
* https://www.orpha.net#444 "Marie Unna hereditary hypotrichosis"
* https://www.orpha.net#461 "Recessive X-linked ichthyosis"
* https://www.orpha.net#506 "Leigh syndrome"
* https://www.orpha.net#509 "Leptospirosis"
* https://www.orpha.net#529 "Roch-Leri mesosomatous lipomatosis"
* https://www.orpha.net#530 "Lipoid proteinosis"
* https://www.orpha.net#549 "Legionnaires disease"
* https://www.orpha.net#551 "MERRF"
* https://www.orpha.net#566 "Congenital microcoria"
* https://www.orpha.net#568 "Microphthalmia, Lenz type"
* https://www.orpha.net#616 "Medulloblastoma"
* https://www.orpha.net#622 "Homocystinuria without methylmalonic aciduria"
* https://www.orpha.net#631 "Non-acquired isolated growth hormone deficiency"
* https://www.orpha.net#641 "Multifocal motor neuropathy"
* https://www.orpha.net#656 "Genetic steroid-resistant nephrotic syndrome"
* https://www.orpha.net#668 "Osteosarcoma"
* https://www.orpha.net#675 "Annular pancreas"
* https://www.orpha.net#676 "Hereditary chronic pancreatitis"
* https://www.orpha.net#714 "Hemolytic anemia due to diphosphoglycerate mutase deficiency"
* https://www.orpha.net#723 "Pneumocystosis"
* https://www.orpha.net#746 "Mitochondrial trifunctional protein deficiency"
* https://www.orpha.net#753 "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency"
* https://www.orpha.net#770 "Rabies"
* https://www.orpha.net#565858 "Craniosynostosis-microretrognathia-severe intellectual disability syndrome"
* https://www.orpha.net#566243 "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"
* https://www.orpha.net#566862 "Left sided atrial isomerism"
* https://www.orpha.net#567544 "Idiopathic non-lupus full-house nephropathy"
* https://www.orpha.net#570470 "Ricin poisoning"
* https://www.orpha.net#576074 "Middle East respiratory syndrome"
* https://www.orpha.net#576232 "Partial atrioventricular septal defect with ventricular hypoplasia"
* https://www.orpha.net#576379 "Iatrogenic Creutzfeldt-Jakob disease"
* https://www.orpha.net#583607 "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency"
* https://www.orpha.net#589527 "Spinocerebellar ataxia type 45"
* https://www.orpha.net#589827 "Juvenile-onset Steinert myotonic dystrophy"
* https://www.orpha.net#595105 "Timothy syndrome type 2"
* https://www.orpha.net#597743 "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"
* https://www.orpha.net#599490 "Acquired factor V deficiency"
* https://www.orpha.net#600663 "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"
* https://www.orpha.net#600668 "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"
* https://www.orpha.net#600691 "Combined deficiency of factor VII and factor X"
* https://www.orpha.net#600961 "Non-syndromic anorectal malformation with rectourethral fistula"
* https://www.orpha.net#600966 "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type"
* https://www.orpha.net#600993 "Non-syndromic anorectal malformation with vestibular fistula"
* https://www.orpha.net#600998 "Non-syndromic cloacal malformation"
* https://www.orpha.net#601002 "Non-syndromic anorectal malformation without fistula"
* https://www.orpha.net#601028 "Non-syndromic anorectal malformation with rectovaginal fistula"
* https://www.orpha.net#603694 "KLHL7-related Crisponi/cold-induced sweating-like syndrome"
* https://www.orpha.net#610573 "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome"
* https://www.orpha.net#615954 "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"
* https://www.orpha.net#615970 "Chronic intervillositis of unknown etiology"
* https://www.orpha.net#616874 "Rare disorder without a determined diagnosis after full investigation"
* https://www.orpha.net#617449 "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"
* https://www.orpha.net#617910 "Conjunctival malignant melanoma"
* https://www.orpha.net#619941 "Immune deficiency due to impaired neutrophil phagocytosis and migration"
* https://www.orpha.net#620198 "Non-syndromic bicoronal and metopic craniosynostosis"
* https://www.orpha.net#620363 "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"
* https://www.orpha.net#622925 "X-linked severe syndromic thoracic aortic aneurysm and dissection"
* https://www.orpha.net#624166 "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies"
* https://www.orpha.net#624190 "Paraneoplastic isolated brainstem encephalitis"
* https://www.orpha.net#624216 "Non-specific autoimmune brainstem encephalitis without characteristic antibodies"
* https://www.orpha.net#624259 "Non-specific autoimmune cerebellar ataxia with characteristic antibodies"
* https://www.orpha.net#631068 "Autosomal dominant spastic paraplegia type 80"
* https://www.orpha.net#631082 "Autosomal recessive spastic paraplegia type 85"
* https://www.orpha.net#631085 "Autosomal recessive spastic paraplegia type 86"
* https://www.orpha.net#631106 "Spinocerebellar ataxia type 49"
* https://www.orpha.net#632603 "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"
* https://www.orpha.net#633076 "Split cord malformation, composite type"
* https://www.orpha.net#634461 "Mosaic neurofibromatosis type 1"
* https://www.orpha.net#636965 "Autosomal dominant myosin storage myopathy"
* https://www.orpha.net#641368 "Autosomal recessive hyper-IgE syndrome"
* https://www.orpha.net#641396 "Central nervous system tuberculosis"
* https://www.orpha.net#642788 "Cushing syndrome due to cortisol-producing adrenocortical adenoma"
* https://www.orpha.net#643538 "Hao-Fountain syndrome due to USP7 mutation"
* https://www.orpha.net#645288 "Terminal extramedullary conus spinal cord lipoma"
* https://www.orpha.net#645362 "Dorsal spinal cord lipoma"
* https://www.orpha.net#645388 "Hemi-myelomeningocele"
* https://www.orpha.net#645393 "Hemi-myeloschisis"
* https://www.orpha.net#647788 "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome"
* https://www.orpha.net#648681 "Immune-mediated scleritis"
* https://www.orpha.net#648919 "Idiopathic catatonia"
* https://www.orpha.net#650077 "Genetic central precocious puberty in female"
* https://www.orpha.net#650087 "Primary central precocious puberty in male"
* https://www.orpha.net#650102 "Non-genetic central precocious puberty in male"
* https://www.orpha.net#780 "Rhabdomyosarcoma"
* https://www.orpha.net#793 "SAPHO syndrome"
* https://www.orpha.net#797 "Sarcoidosis"
* https://www.orpha.net#798 "Schinzel-Giedion syndrome"
* https://www.orpha.net#803 "Amyotrophic lateral sclerosis"
* https://www.orpha.net#854 "Primitive portal vein thrombosis"
* https://www.orpha.net#874 "Primary adult heart tumor"
* https://www.orpha.net#889 "Cutaneous small vessel vasculitis"
* https://www.orpha.net#892 "Von Hippel-Lindau disease"
* https://www.orpha.net#903 "Von Willebrand disease"
* https://www.orpha.net#905 "Wilson disease"
* https://www.orpha.net#920 "Ablepharon macrostomia syndrome"
* https://www.orpha.net#939 "3-hydroxyisobutyric aciduria"
* https://www.orpha.net#958 "Acro-renal-mandibular syndrome"
* https://www.orpha.net#959 "Acro-renal-ocular syndrome"
* https://www.orpha.net#969 "Acromicric dysplasia"
* https://www.orpha.net#1005 "Alopecia-contractures-dwarfism-intellectual disability syndrome"
* https://www.orpha.net#1052 "Mosaic variegated aneuploidy syndrome"
* https://www.orpha.net#1063 "Tufted angioma"
* https://www.orpha.net#1074 "Ankyloblepharon filiforme adnatum-imperforate anus syndrome"
* https://www.orpha.net#1112 "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome"
* https://www.orpha.net#1160 "Chylous ascites"
* https://www.orpha.net#1178 "Ataxia-tapetoretinal degeneration syndrome"
* https://www.orpha.net#1180 "Ataxia-hypogonadism-choroidal dystrophy syndrome"
* https://www.orpha.net#1194 "TMEM70-related mitochondrial encephalo-cardio-myopathy"
* https://www.orpha.net#1201 "Small bowel atresia"
* https://www.orpha.net#1209 "Tricuspid atresia"
* https://www.orpha.net#1214 "Progressive hemifacial atrophy"
* https://www.orpha.net#1223 "Balantidiasis"
* https://www.orpha.net#1231 "Barber-Say syndrome"
* https://www.orpha.net#1270 "Bowen-Conradi syndrome"
* https://www.orpha.net#1278 "Brachydactyly-preaxial hallux varus syndrome"
* https://www.orpha.net#1302 "Cryptogenic organizing pneumonia"
* https://www.orpha.net#1304 "Brucellosis"
* https://www.orpha.net#1335 "Pentalogy of Cantrell"
* https://www.orpha.net#1377 "Cataract-microcornea syndrome"
* https://www.orpha.net#1410 "Uncombable hair syndrome"
* https://www.orpha.net#1445 "Ring chromosome 21 syndrome"
* https://www.orpha.net#1453 "Cleidorhizomelic syndrome"
* https://www.orpha.net#1454 "Joubert syndrome with hepatic defect"
* https://www.orpha.net#1486 "Lethal congenital contracture syndrome type 1"
* https://www.orpha.net#1508 "Coxoauricular syndrome"
* https://www.orpha.net#1513 "Craniodiaphyseal dysplasia"
* https://www.orpha.net#1520 "Craniofrontonasal dysplasia"
* https://www.orpha.net#1525 "Cranio-osteoarthropathy"
* https://www.orpha.net#1527 "Craniosynostosis, Philadelphia type"
* https://www.orpha.net#1556 "Cutis marmorata telangiectatica congenita"
* https://www.orpha.net#1600 "Monosomy 18q"
* https://www.orpha.net#1642 "Distal deletion 9p"
* https://www.orpha.net#1671 "Split cord malformation type I"
* https://www.orpha.net#1685 "Distomatosis"
* https://www.orpha.net#1711 "Mosaic trisomy 17"
* https://www.orpha.net#1715 "Trisomy 18p"
* https://www.orpha.net#1765 "Dyschondrosteosis-nephritis syndrome"
* https://www.orpha.net#1766 "Dysequilibrium syndrome"
* https://www.orpha.net#1770 "XY type gonadal dysgenesis-associated anomalies syndrome"
* https://www.orpha.net#1779 "Dysmorphism-cleft palate-loose skin syndrome"
* https://www.orpha.net#1798 "Dysostosis, Stanescu type"
* https://www.orpha.net#1799 "Familial developmental dysphasia"
* https://www.orpha.net#1842 "Bone dysplasia, lethal Holmgren type"
* https://www.orpha.net#1855 "Spondyloenchondrodysplasia"
* https://www.orpha.net#1860 "Thanatophoric dysplasia type 1"
* https://www.orpha.net#1861 "Thoracic dysplasia-hydrocephalus syndrome"
* https://www.orpha.net#1891 "Intellectual disability-spasticity-ectrodactyly syndrome"
* https://www.orpha.net#1909 "Indomethacin embryofetopathy"
* https://www.orpha.net#1912 "Fetal hydantoin syndrome"
* https://www.orpha.net#1937 "Eng-Strom syndrome"
* https://www.orpha.net#1946 "Amelocerebrohypohidrotic syndrome"
* https://www.orpha.net#2017 "Sternal cleft"
* https://www.orpha.net#2025 "Gingival fibromatosis-facial dysmorphism syndrome"
* https://www.orpha.net#2027 "Gingival fibromatosis-progressive deafness syndrome"
* https://www.orpha.net#2035 "Lymphatic filariasis"
* https://www.orpha.net#2039 "Congenital systemic arteriovenous fistula"
* https://www.orpha.net#2062 "Progressive non-infectious anterior vertebral fusion"
* https://www.orpha.net#2065 "Galloway-Mowat syndrome"
* https://www.orpha.net#2083 "Prominent glabella-microcephaly-hypogenitalism syndrome"
* https://www.orpha.net#2091 "Multinodular goiter-cystic kidney-polydactyly syndrome"
* https://www.orpha.net#2092 "Focal dermal hypoplasia"
* https://www.orpha.net#2131 "Alternating hemiplegia of childhood"
* https://www.orpha.net#2139 "Hernández-Aguirre Negrete syndrome"
* https://www.orpha.net#2140 "Congenital diaphragmatic hernia"
* https://www.orpha.net#2141 "Diaphragmatic defect-limb deficiency-skull defect syndrome"
* https://www.orpha.net#2155 "Hirschsprung disease-deafness-polydactyly syndrome"
* https://www.orpha.net#2162 "Holoprosencephaly"
* https://www.orpha.net#2195 "Dicarboxylic aminoaciduria"
* https://www.orpha.net#2196 "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"
* https://www.orpha.net#2200 "Focal palmoplantar and gingival keratoderma"
* https://www.orpha.net#2220 "Hypertrichosis cubiti"
* https://www.orpha.net#2224 "Hypertryptophanemia"
* https://www.orpha.net#2252 "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome"
* https://www.orpha.net#2254 "Pontocerebellar hypoplasia type 1"
* https://www.orpha.net#2256 "Fibulo-ulnar hypoplasia-renal anomalies syndrome"
* https://www.orpha.net#2269 "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome"
* https://www.orpha.net#2274 "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome"
* https://www.orpha.net#2282 "Dysmorphism-short stature-deafness-difference of sex development syndrome"
* https://www.orpha.net#2301 "Congenital short bowel syndrome"
* https://www.orpha.net#2323 "Sanjad-Sakati syndrome"
* https://www.orpha.net#2333 "Kenny-Caffey syndrome"
* https://www.orpha.net#2334 "Autosomal dominant keratitis"
* https://www.orpha.net#2342 "Haim-Munk syndrome"
* https://www.orpha.net#2351 "Kousseff syndrome"
* https://www.orpha.net#2356 "Arachnoid cyst"
* https://www.orpha.net#2371 "Lethal Larsen-like syndrome"
* https://www.orpha.net#2399 "Nasopalpebral lipoma-coloboma syndrome"
* https://www.orpha.net#2427 "Macrocephaly-short stature-paraplegia syndrome"
* https://www.orpha.net#2432 "Macrosomia-microphthalmia-cleft palate syndrome"
* https://www.orpha.net#2462 "Shprintzen-Goldberg syndrome"
* https://www.orpha.net#2494 "Ménétrier disease"
* https://www.orpha.net#2497 "Upper limb mesomelic dysplasia"
* https://www.orpha.net#2573 "Moyamoya disease"
* https://www.orpha.net#2578 "Mayer-Rokitansky-Küster-Hauser syndrome type 2"
* https://www.orpha.net#2583 "Mycetoma"
* https://www.orpha.net#2604 "Familial visceral myopathy"
* https://www.orpha.net#2609 "Isolated complex I deficiency"
* https://www.orpha.net#2637 "Microcephalic osteodysplastic primordial dwarfism type II"
* https://www.orpha.net#2646 "Parastremmatic dwarfism"
* https://www.orpha.net#2663 "Nathalie syndrome"
* https://www.orpha.net#2669 "Nephrosis-deafness-urinary tract-digital malformations syndrome"
* https://www.orpha.net#2698 "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"
* https://www.orpha.net#2715 "Severe oculo-renal-cerebellar syndrome"
* https://www.orpha.net#2721 "Odonto-onycho-dermal dysplasia"
* https://www.orpha.net#2729 "Okamoto syndrome"
* https://www.orpha.net#2750 "Orofaciodigital syndrome type 1"
* https://www.orpha.net#2755 "Orofaciodigital syndrome type 8"
* https://www.orpha.net#2764 "Osteochondritis dissecans"
* https://www.orpha.net#2769 "Familial osteodysplasia, Anderson type"
* https://www.orpha.net#2779 "Osteopathia striata-pigmentary dermopathy-white forelock syndrome"
* https://www.orpha.net#2780 "Osteopathia striata-cranial sclerosis syndrome"
* https://www.orpha.net#2788 "Osteoporosis-pseudoglioma syndrome"
* https://www.orpha.net#2812 "Parana hard skin syndrome"
* https://www.orpha.net#2826 "Spastic paraplegia-precocious puberty syndrome"
* https://www.orpha.net#2832 "Short tarsus-absence of lower eyelashes syndrome"
* https://www.orpha.net#2834 "Wrinkly skin syndrome"
* https://www.orpha.net#2849 "Perlman syndrome"
* https://www.orpha.net#2868 "Short stature-valvular heart disease-characteristic facies syndrome"
* https://www.orpha.net#2876 "PHAVER syndrome"
* https://www.orpha.net#2888 "Pierre Robin syndrome-faciodigital anomaly syndrome"
* https://www.orpha.net#2899 "Brachyolmia-amelogenesis imperfecta syndrome"
* https://www.orpha.net#2907 "Hereditary acrokeratotic poikiloderma"
* https://www.orpha.net#2911 "Poland syndrome"
* https://www.orpha.net#2912 "Poliomyelitis"
* https://www.orpha.net#2956 "Acrodysplasia scoliosis"
* https://www.orpha.net#2959 "Progeria-short stature-pigmented nevi syndrome"
* https://www.orpha.net#2967 "Transcobalamin I deficiency"
* https://www.orpha.net#2969 "Proteus-like syndrome"
* https://www.orpha.net#2999 "Ptosis-strabismus-ectopic pupils syndrome"
* https://www.orpha.net#3011 "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"
* https://www.orpha.net#3020 "Ramsay Hunt syndrome"
* https://www.orpha.net#3038 "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome"
* https://www.orpha.net#3057 "Monoamine oxidase A deficiency"
* https://www.orpha.net#3086 "Autosomal dominant vitreoretinochoroidopathy"
* https://www.orpha.net#3107 "Autosomal dominant Robinow syndrome"
* https://www.orpha.net#3115 "Roussy-Lévy syndrome"
* https://www.orpha.net#3124 "Saccharopinuria"
* https://www.orpha.net#3130 "Satoyoshi syndrome"
* https://www.orpha.net#3138 "Ulnar-mammary syndrome"
* https://www.orpha.net#3156 "Senior-Loken syndrome"
* https://www.orpha.net#3166 "Sialuria"
* https://www.orpha.net#3169 "Sirenomelia"
* https://www.orpha.net#3197 "Hereditary hyperekplexia"
* https://www.orpha.net#3216 "Conductive deafness-malformed external ear syndrome"
* https://www.orpha.net#3241 "Deafness-craniofacial syndrome"
* https://www.orpha.net#3242 "Renpenning syndrome"
* https://www.orpha.net#3259 "Syndactyly-polydactyly-ear lobe syndrome"
* https://www.orpha.net#3262 "Dobrow syndrome"
* https://www.orpha.net#3266 "Humero-radio-ulnar synostosis"
* https://www.orpha.net#3286 "Catecholaminergic polymorphic ventricular tachycardia"
* https://www.orpha.net#3307 "Tetrasomy 18p"
* https://www.orpha.net#3324 "Familial thrombomodulin anomalies"
* https://www.orpha.net#3325 "Heparin-induced thrombocytopenia"
* https://www.orpha.net#3329 "Tibial aplasia-ectrodactyly syndrome"
* https://www.orpha.net#3347 "Mounier-Kühn syndrome"
* https://www.orpha.net#3365 "Trigonocephaly-broad thumbs syndrome"
* https://www.orpha.net#3375 "Trisomy X"
* https://www.orpha.net#3385 "African trypanosomiasis"
* https://www.orpha.net#3386 "American trypanosomiasis"
* https://www.orpha.net#3403 "Uhl anomaly"
* https://www.orpha.net#3405 "Umbilical cord ulceration-intestinal atresia syndrome"
* https://www.orpha.net#3447 "Weaver syndrome"
* https://www.orpha.net#3466 "WT limb-blood syndrome"
* https://www.orpha.net#32960 "Tumor necrosis factor receptor 1 associated periodic syndrome"
* https://www.orpha.net#33108 "Lethal multiple pterygium syndrome"
* https://www.orpha.net#33445 "Neuroectodermal melanolysosomal disease"
* https://www.orpha.net#33573 "Gamma-glutamyl transpeptidase deficiency"
* https://www.orpha.net#34520 "Congenital muscular dystrophy with integrin alpha-7 deficiency"
* https://www.orpha.net#34592 "Immunodeficiency by defective expression of MHC class I"
* https://www.orpha.net#35078 "T-B+ severe combined immunodeficiency due to JAK3 deficiency"
* https://www.orpha.net#35125 "Epidermal nevus syndrome"
* https://www.orpha.net#35704 "L-Arginine:glycine amidinotransferase deficiency"
* https://www.orpha.net#35706 "Glutaric acidemia type 3"
* https://www.orpha.net#36387 "Generalized epilepsy with febrile seizures-plus"
* https://www.orpha.net#37748 "Schnitzler syndrome"
* https://www.orpha.net#40366 "Acitretin/etretinate embryopathy"
* https://www.orpha.net#40923 "Eales disease"
* https://www.orpha.net#43115 "Hereditary myopathy with lactic acidosis due to ISCU deficiency"
* https://www.orpha.net#43393 "Lambert-Eaton myasthenic syndrome"
* https://www.orpha.net#46627 "Char syndrome"
* https://www.orpha.net#48435 "Postinfectious vasculitis"
* https://www.orpha.net#49827 "Thiamine-responsive megaloblastic anemia syndrome"
* https://www.orpha.net#50251 "Pleural mesothelioma"
* https://www.orpha.net#50809 "Talo-patello-scaphoid osteolysis"
* https://www.orpha.net#50811 "Lipodystrophy-intellectual disability-deafness syndrome"
* https://www.orpha.net#50812 "Zellweger-like syndrome without peroxisomal anomalies"
* https://www.orpha.net#50942 "Striate palmoplantar keratoderma"
* https://www.orpha.net#50944 "Schöpf-Schulz-Passarge syndrome"
* https://www.orpha.net#51188 "Ethylmalonic encephalopathy"
* https://www.orpha.net#52054 "Craniosynostosis-intracranial calcifications syndrome"
* https://www.orpha.net#52416 "Mantle cell lymphoma"
* https://www.orpha.net#53035 "Caroli disease"
* https://www.orpha.net#53583 "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"
* https://www.orpha.net#53721 "Spinal arteriovenous metameric syndrome"
* https://www.orpha.net#56305 "Atelosteogenesis type III"
* https://www.orpha.net#60039 "Pudendal neuralgia"
* https://www.orpha.net#63269 "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"
* https://www.orpha.net#63275 "Pemphigoid gestationis"
* https://www.orpha.net#63455 "Paraneoplastic pemphigus"
* https://www.orpha.net#64753 "Spinocerebellar ataxia with axonal neuropathy type 2"
* https://www.orpha.net#64754 "Nevus comedonicus syndrome"
* https://www.orpha.net#65285 "Lhermitte-Duclos disease"
* https://www.orpha.net#65286 "3q29 microdeletion syndrome"
* https://www.orpha.net#65681 "Vaginal atresia"
* https://www.orpha.net#66624 "PANDAS"
* https://www.orpha.net#66627 "Tenosynovial giant cell tumor"
* https://www.orpha.net#66629 "Goldberg-Shprintzen megacolon syndrome"
* https://www.orpha.net#69084 "Pure hair and nail ectodermal dysplasia"
* https://www.orpha.net#69663 "Low phospholipid-associated cholelithiasis"
* https://www.orpha.net#69735 "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"
* https://www.orpha.net#69736 "Bilateral acute depigmentation of the iris"
* https://www.orpha.net#70472 "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"
* https://www.orpha.net#70475 "Radiation proctitis"
* https://www.orpha.net#70568 "Post-transplant lymphoproliferative disease"
* https://www.orpha.net#70578 "Adult acute respiratory distress syndrome"
* https://www.orpha.net#70589 "Bronchopulmonary dysplasia"
* https://www.orpha.net#70592 "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"
* https://www.orpha.net#71212 "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"
* https://www.orpha.net#73245 "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"
* https://www.orpha.net#73271 "Bleeding diathesis due to a collagen receptor defect"
* https://www.orpha.net#75326 "Retinal arterial tortuosity"
* https://www.orpha.net#77297 "Majeed syndrome"
* https://www.orpha.net#77298 "Anophthalmia/microphthalmia-esophageal atresia syndrome"
* https://www.orpha.net#79076 "Juvenile polyposis of infancy"
* https://www.orpha.net#79084 "Familial partial lipodystrophy, Köbberling type"
* https://www.orpha.net#79093 "Foix-Alajouanine syndrome"
* https://www.orpha.net#79095 "Congenital bile acid synthesis defect type 4"
* https://www.orpha.net#79126 "Acute interstitial pneumonia"
* https://www.orpha.net#79127 "Respiratory bronchiolitis-interstitial lung disease syndrome"
* https://www.orpha.net#79135 "Episodic ataxia type 3"
* https://www.orpha.net#79136 "Episodic ataxia type 4"
* https://www.orpha.net#79137 "Generalized epilepsy-paroxysmal dyskinesia syndrome"
* https://www.orpha.net#79146 "Familial progressive hyperpigmentation"
* https://www.orpha.net#79153 "Idiopathic trachyonychia"
* https://www.orpha.net#79155 "Hydroxykynureninuria"
* https://www.orpha.net#79159 "Isobutyryl-CoA dehydrogenase deficiency"
* https://www.orpha.net#79230 "HJV or HAMP-related hemochromatosis"
* https://www.orpha.net#79238 "Galactose epimerase deficiency"
* https://www.orpha.net#79241 "Biotinidase deficiency"
* https://www.orpha.net#79269 "Sanfilippo syndrome type A"
* https://www.orpha.net#79270 "Sanfilippo syndrome type B"
* https://www.orpha.net#79278 "Autosomal erythropoietic protoporphyria"
* https://www.orpha.net#79293 "Familial LCAT deficiency"
* https://www.orpha.net#79314 "L-2-hydroxyglutaric aciduria"
* https://www.orpha.net#79394 "Congenital ichthyosiform erythroderma"
* https://www.orpha.net#79404 "Severe generalized junctional epidermolysis bullosa"
* https://www.orpha.net#79432 "Oculocutaneous albinism type 2"
* https://www.orpha.net#79435 "Oculocutaneous albinism type 4"
* https://www.orpha.net#79445 "Pseudopseudohypoparathyroidism"
* https://www.orpha.net#79452 "Milroy disease"
* https://www.orpha.net#79474 "Atypical Werner syndrome"
* https://www.orpha.net#79493 "Brooke-Spiegler syndrome"
* https://www.orpha.net#83317 "Scrub typhus"
* https://www.orpha.net#83451 "Florid cemento-osseous dysplasia"
* https://www.orpha.net#83593 "Western equine encephalitis"
* https://www.orpha.net#83642 "Microcytic anemia with liver iron overload"
* https://www.orpha.net#85138 "Addison disease"
* https://www.orpha.net#85172 "Microcephalic osteodysplastic dysplasia, Saul-Wilson type"
* https://www.orpha.net#85191 "Singleton-Merten dysplasia"
* https://www.orpha.net#85199 "Craniosynostosis-anal anomalies-porokeratosis syndrome"
* https://www.orpha.net#85273 "X-linked intellectual disability, Abidi type"
* https://www.orpha.net#85275 "Microphthalmia-ankyloblepharon-intellectual disability syndrome"
* https://www.orpha.net#85322 "X-linked intellectual disability, Pai type"
* https://www.orpha.net#85414 "Systemic-onset juvenile idiopathic arthritis"
* https://www.orpha.net#86817 "Hemolytic anemia due to adenylate kinase deficiency"
* https://www.orpha.net#86839 "Refractory anemia with excess blasts"
* https://www.orpha.net#86843 "Acute panmyelosis with myelofibrosis"
* https://www.orpha.net#86854 "Splenic marginal zone lymphoma"
* https://www.orpha.net#86886 "Angioimmunoblastic T-cell lymphoma"
* https://www.orpha.net#88616 "Autosomal recessive non-syndromic intellectual disability"
* https://www.orpha.net#88939 "Pseudohypoaldosteronism type 2B"
* https://www.orpha.net#88949 "MUC1-related autosomal dominant tubulointerstitial kidney disease"
* https://www.orpha.net#90020 "Parkinson-dementia complex of Guam"
* https://www.orpha.net#90021 "Radiation myelitis"
* https://www.orpha.net#90066 "Pneumonia caused by Pseudomonas aeruginosa infection"
* https://www.orpha.net#90069 "Systemic monochloroacetate poisoning"
* https://www.orpha.net#90117 "Hereditary motor and sensory neuropathy, Okinawa type"
* https://www.orpha.net#90186 "Meige disease"
* https://www.orpha.net#90389 "Telangiectasia macularis eruptiva perstans"
* https://www.orpha.net#90400 "Scleromyxedema without monoclonal gammopathy"
* https://www.orpha.net#90794 "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
* https://www.orpha.net#91352 "Germinoma of the central nervous system"
* https://www.orpha.net#91397 "Isolated ankyloblepharon filiforme adnatum"
* https://www.orpha.net#91416 "Isolated congenital alacrima"
* https://www.orpha.net#91496 "Snowflake vitreoretinal degeneration"
* https://www.orpha.net#91547 "Relapsing fever"
* https://www.orpha.net#93101 "Renal hypoplasia"
* https://www.orpha.net#93109 "Congenital megacalycosis"
* https://www.orpha.net#93256 "Fragile X-associated tremor/ataxia syndrome"
* https://www.orpha.net#93258 "Pfeiffer syndrome type 1"
* https://www.orpha.net#93267 "Cloverleaf skull-multiple congenital anomalies syndrome"
* https://www.orpha.net#93270 "Short rib-polydactyly syndrome, Saldino-Noonan type"
* https://www.orpha.net#93279 "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"
* https://www.orpha.net#93307 "Multiple epiphyseal dysplasia type 4"
* https://www.orpha.net#93315 "Spondylometaphyseal dysplasia, 'corner fracture' type"
* https://www.orpha.net#93322 "Tibial hemimelia"
* https://www.orpha.net#93339 "Polydactyly of a biphalangeal thumb and/or hallux"
* https://www.orpha.net#93346 "Spondyloepimetaphyseal dysplasia congenita, Strudwick type"
* https://www.orpha.net#93347 "Anauxetic dysplasia"
* https://www.orpha.net#93358 "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"
* https://www.orpha.net#93396 "Brachydactyly type A2"
* https://www.orpha.net#93399 "Juvenile sialidosis type 2"
* https://www.orpha.net#93600 "Primary hyperoxaluria type 3"
* https://www.orpha.net#93602 "Xanthinuria type II"
* https://www.orpha.net#93613 "Cystinuria type B"
* https://www.orpha.net#93930 "Bladder exstrophy"
* https://www.orpha.net#93939 "Laryngotracheoesophageal cleft type 2"
* https://www.orpha.net#93946 "Hamel cerebro-palato-cardiac syndrome"
* https://www.orpha.net#93976 "Anotia"
* https://www.orpha.net#94056 "Humero-ulnar synostosis"
* https://www.orpha.net#94063 "12q14 microdeletion syndrome"
* https://www.orpha.net#94087 "Cytophagic histiocytic panniculitis"
* https://www.orpha.net#94125 "Recessive mitochondrial ataxia syndrome"
* https://www.orpha.net#95409 "Acute adrenal insufficiency"
* https://www.orpha.net#95430 "Congenital tracheomalacia"
* https://www.orpha.net#95431 "Twin to twin transfusion syndrome"
* https://www.orpha.net#95443 "Mesocardia"
* https://www.orpha.net#95462 "Accessory tricuspid valve tissue"
* https://www.orpha.net#95491 "Congenital coronary artery aneurysm"
* https://www.orpha.net#95507 "Congenital anomaly of hepatic vein"
* https://www.orpha.net#95699 "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"
* https://www.orpha.net#96071 "Distal duplication 3p"
* https://www.orpha.net#96101 "Distal duplication 9q"
* https://www.orpha.net#96112 "Non-distal duplication 9q"
* https://www.orpha.net#96129 "Distal deletion 19p"
* https://www.orpha.net#96145 "Distal deletion 4q"
* https://www.orpha.net#96169 "Koolen-De Vries syndrome"
* https://www.orpha.net#96171 "Ring chromosome 2 syndrome"
* https://www.orpha.net#96178 "Ring chromosome 16 syndrome"
* https://www.orpha.net#96184 "Temple syndrome due to maternal uniparental disomy of chromosome 14"
* https://www.orpha.net#96188 "Maternal uniparental disomy of chromosome 22"
* https://www.orpha.net#97230 "Solar urticaria"
* https://www.orpha.net#97232 "Fingerprint body myopathy"
* https://www.orpha.net#97282 "VIPoma"
* https://www.orpha.net#97336 "Panner disease"
* https://www.orpha.net#97355 "Caribbean parkinsonism"
* https://www.orpha.net#97566 "Non-amyloid fibrillary glomerulopathy"
* https://www.orpha.net#98759 "Spinocerebellar ataxia type 17"
* https://www.orpha.net#98765 "Spinocerebellar ataxia type 4"
* https://www.orpha.net#98791 "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"
* https://www.orpha.net#98823 "Chronic myelomonocytic leukemia"
* https://www.orpha.net#98832 "Acute myeloid leukemia with minimal differentiation"
* https://www.orpha.net#98838 "Primary mediastinal large B-cell lymphoma"
* https://www.orpha.net#98846 "Classic Hodgkin lymphoma, lymphocyte-depleted type"
* https://www.orpha.net#98863 "X-linked Emery-Dreifuss muscular dystrophy"
* https://www.orpha.net#98871 "Transient erythroblastopenia of childhood"
* https://www.orpha.net#98892 "Periventricular nodular heterotopia"
* https://www.orpha.net#98896 "Duchenne muscular dystrophy"
* https://www.orpha.net#98934 "Huntington disease-like 2"
* https://www.orpha.net#98943 "Coloboma of eye lens"
* https://www.orpha.net#98954 "Meesmann corneal dystrophy"
* https://www.orpha.net#98962 "Granular corneal dystrophy type I"
* https://www.orpha.net#98967 "Schnyder corneal dystrophy"
* https://www.orpha.net#98970 "Fleck corneal dystrophy"
* https://www.orpha.net#98975 "Congenital hereditary endothelial dystrophy type I"
* https://www.orpha.net#98979 "Chandler syndrome"
* https://www.orpha.net#98981 "Essential iris atrophy"
* https://www.orpha.net#98990 "Coralliform cataract"
* https://www.orpha.net#99014 "X-linked Charcot-Marie-Tooth disease type 5"
* https://www.orpha.net#99057 "Congenital mitral stenosis"
* https://www.orpha.net#99058 "Hypoplasia of the mitral valve annulus"
* https://www.orpha.net#99062 "Mitral valve agenesis"
* https://www.orpha.net#99082 "Dysphagia lusoria"
* https://www.orpha.net#99110 "Right superior vena cava connecting to left-sided atrium"
* https://www.orpha.net#99120 "Persistent eustachian valve"
* https://www.orpha.net#99179 "Kandori fleck retina"
* https://www.orpha.net#99226 "Monosomy X"
* https://www.orpha.net#99228 "Mosaic monosomy X"
* https://www.orpha.net#99361 "Familial medullary thyroid carcinoma"
* https://www.orpha.net#99413 "Turner syndrome due to structural X chromosome anomalies"
* https://www.orpha.net#99688 "Dermotrichic syndrome"
* https://www.orpha.net#99748 "Pontiac fever"
* https://www.orpha.net#99772 "Cleft velum"
* https://www.orpha.net#99792 "Dentin dysplasia-sclerotic bones syndrome"
* https://www.orpha.net#99811 "Neuronal intestinal pseudoobstruction"
* https://www.orpha.net#99829 "Yellow fever"
* https://www.orpha.net#99879 "Familial isolated hyperparathyroidism"
* https://www.orpha.net#99905 "Streptobacillary rat-bite fever"
* https://www.orpha.net#99912 "Malignant dysgerminomatous germ cell tumor of the ovary"
* https://www.orpha.net#99939 "Autosomal dominant Charcot-Marie-Tooth disease type 2E"
* https://www.orpha.net#99944 "Autosomal dominant Charcot-Marie-Tooth disease type 2K"
* https://www.orpha.net#99948 "Charcot-Marie-Tooth disease type 4A"
* https://www.orpha.net#99953 "Charcot-Marie-Tooth disease type 4G"
* https://www.orpha.net#99965 "O'Sullivan-McLeod syndrome"
* https://www.orpha.net#99991 "Relapsing epidemic typhus"
* https://www.orpha.net#100001 "Sclerosing perineurioma"
* https://www.orpha.net#100025 "Alpha-heavy chain disease"
* https://www.orpha.net#100026 "Gamma-heavy chain disease"
* https://www.orpha.net#100046 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"
* https://www.orpha.net#100067 "Waterhouse-Friderichsen syndrome"
* https://www.orpha.net#100085 "Primary hepatic neuroendocrine carcinoma"
* https://www.orpha.net#100086 "Gallbladder neuroendocrine tumor"
* https://www.orpha.net#100986 "Autosomal recessive spastic paraplegia type 5A"
* https://www.orpha.net#100994 "Autosomal dominant spastic paraplegia type 13"
* https://www.orpha.net#101001 "Autosomal recessive spastic paraplegia type 21"
* https://www.orpha.net#101006 "Autosomal recessive spastic paraplegia type 26"
* https://www.orpha.net#101008 "Autosomal recessive spastic paraplegia type 28"
* https://www.orpha.net#101023 "Cleft hard palate"
* https://www.orpha.net#101043 "Congenital aortic valve dysplasia"
* https://www.orpha.net#101088 "X-linked hyper-IgM syndrome"
* https://www.orpha.net#101330 "Porphyria cutanea tarda"
* https://www.orpha.net#103908 "Congenital sodium diarrhea"
* https://www.orpha.net#103909 "Trehalase deficiency"
* https://www.orpha.net#137628 "Cardiac anomalies-heterotaxy syndrome"
* https://www.orpha.net#137639 "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome"
* https://www.orpha.net#137681 "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"
* https://www.orpha.net#137698 "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk"
* https://www.orpha.net#137810 "Nodular cutaneous amyloidosis"
* https://www.orpha.net#137817 "Arachnoiditis"
* https://www.orpha.net#137820 "Extrapelvic endometriosis"
* https://www.orpha.net#139406 "Encephalopathy due to prosaposin deficiency"
* https://www.orpha.net#139444 "Leukoencephalopathy with bilateral anterior temporal lobe cysts"
* https://www.orpha.net#139485 "Autosomal recessive ataxia due to ubiquinone deficiency"
* https://www.orpha.net#139578 "Mutilating hereditary sensory neuropathy with spastic paraplegia"
* https://www.orpha.net#140286 "Secondary hypoparathyroidism due to impaired parathormon secretion"
* https://www.orpha.net#140927 "Benign familial neonatal-infantile seizures"
* https://www.orpha.net#140933 "Linear atrophoderma of Moulin"
* https://www.orpha.net#140957 "Autosomal dominant macrothrombocytopenia"
* https://www.orpha.net#141007 "Orofaciodigital syndrome type 9"
* https://www.orpha.net#141067 "Cervicofacial fibrochondroma"
* https://www.orpha.net#141107 "Nasopharyngeal teratoma"
* https://www.orpha.net#141121 "Congenital subglottic stenosis"
* https://www.orpha.net#141163 "Glossopalatine ankylosis"
* https://www.orpha.net#141179 "Non-involuting congenital hemangioma"
* https://www.orpha.net#141214 "Isolated congenital syngnathia"
* https://www.orpha.net#141265 "Tessier number 6 facial cleft"
* https://www.orpha.net#141288 "Midline cervical cleft"
* https://www.orpha.net#157215 "Hereditary hypophosphatemic rickets with hypercalciuria"
* https://www.orpha.net#157794 "Hereditary mixed polyposis syndrome"
* https://www.orpha.net#157946 "Huntington disease-like 3"
* https://www.orpha.net#157949 "Combined immunodeficiency with granulomatosis"
* https://www.orpha.net#158022 "Progressive nodular histiocytosis"
* https://www.orpha.net#158061 "Macrophage activation syndrome"
* https://www.orpha.net#158676 "Localized dystrophic epidermolysis bullosa, nails only"
* https://www.orpha.net#160148 "Cap polyposis"
* https://www.orpha.net#163525 "Subacute cutaneous lupus erythematosus"
* https://www.orpha.net#163690 "Hypotonia-cystinuria syndrome"
* https://www.orpha.net#163927 "Pustulosis palmaris et plantaris"
* https://www.orpha.net#166087 "Von Willebrand disease type 2B"
* https://www.orpha.net#166286 "Porokeratotic eccrine ostial and dermal duct nevus"
* https://www.orpha.net#167635 "Scleromyxedema"
* https://www.orpha.net#168577 "Hereditary cryohydrocytosis with reduced stomatin"
* https://www.orpha.net#168598 "Methionine adenosyltransferase I/III deficiency"
* https://www.orpha.net#168796 "Heart-hand syndrome, Slovenian type"
* https://www.orpha.net#168947 "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement"
* https://www.orpha.net#169186 "Autosomal recessive centronuclear myopathy"
* https://www.orpha.net#169189 "Autosomal dominant centronuclear myopathy"
* https://www.orpha.net#169805 "Moderate hemophilia A"
* https://www.orpha.net#171839 "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome"
* https://www.orpha.net#171863 "Autosomal dominant spastic paraplegia type 42"
* https://www.orpha.net#177901 "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"
* https://www.orpha.net#177929 "Bleeding disorder in hemophilia B carriers"
* https://www.orpha.net#178029 "Central diabetes insipidus"
* https://www.orpha.net#178148 "Antenatal multiminicore disease with arthrogryposis multiplex congenita"
* https://www.orpha.net#178303 "8q22.1 microdeletion syndrome"
* https://www.orpha.net#178315 "Undifferentiated embryonal sarcoma of the liver"
* https://www.orpha.net#178478 "Infant botulism"
* https://www.orpha.net#178540 "Primary cutaneous follicle center lymphoma"
* https://www.orpha.net#180226 "Embryonal carcinoma"
* https://www.orpha.net#180234 "Mixed germ cell tumor"
* https://www.orpha.net#182050 "MYH9-related disease"
* https://www.orpha.net#182127 "Extragonadal germinoma"
* https://www.orpha.net#199251 "Ledderhose disease"
* https://www.orpha.net#199299 "Late-onset isolated ACTH deficiency"
* https://www.orpha.net#199351 "Adult-onset dystonia-parkinsonism"
* https://www.orpha.net#200421 "Immunodeficiency with factor H anomaly"
* https://www.orpha.net#206448 "Adult Krabbe disease"
* https://www.orpha.net#208999 "Paraneoplastic sensory ganglionopathy"
* https://www.orpha.net#209867 "Autosomal dominant rhegmatogenous retinal detachment"
* https://www.orpha.net#209959 "Phacoanaphylactic uveitis"
* https://www.orpha.net#213504 "Adenocarcinoma of ovary"
* https://www.orpha.net#213823 "Adenoid cystic carcinoma of the cervix uteri"
* https://www.orpha.net#216729 "Congenitally uncorrected transposition of the great arteries with cardiac malformation"
* https://www.orpha.net#216981 "Niemann-Pick disease type C, juvenile neurologic onset"
* https://www.orpha.net#216986 "Niemann-Pick disease type C, adult neurologic onset"
* https://www.orpha.net#217026 "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type"
* https://www.orpha.net#217560 "Neuroendocrine cell hyperplasia of infancy"
* https://www.orpha.net#217622 "Sensorineural deafness with dilated cardiomyopathy"
* https://www.orpha.net#220386 "Semilobar holoprosencephaly"
* https://www.orpha.net#221039 "Hereditary sclerosing poikiloderma, Weary type"
* https://www.orpha.net#221046 "Poikiloderma with neutropenia"
* https://www.orpha.net#221120 "Pseudoaminopterin syndrome"
* https://www.orpha.net#225123 "TFR2-related hemochromatosis"
* https://www.orpha.net#225147 "Sporadic infantile bilateral striatal necrosis"
* https://www.orpha.net#226307 "Hypothyroidism due to deficient transcription factors involved in pituitary development or function"
* https://www.orpha.net#227796 "Fundus albipunctatus"
* https://www.orpha.net#227972 "Toxic oil syndrome"
* https://www.orpha.net#227982 "Autoimmune polyendocrinopathy type 3"
* https://www.orpha.net#228003 "Severe combined immunodeficiency due to CORO1A deficiency"
* https://www.orpha.net#228113 "Anal fistula"
* https://www.orpha.net#228190 "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome"
* https://www.orpha.net#228254 "Elastoma"
* https://www.orpha.net#228299 "Mid-dermal elastolysis"
* https://www.orpha.net#228308 "Carnitine palmitoyl transferase II deficiency, neonatal form"
* https://www.orpha.net#228366 "CLN7 disease"
* https://www.orpha.net#228374 "Charcot-Marie-Tooth disease type 2B5"
* https://www.orpha.net#228399 "8q12 microduplication syndrome"
* https://www.orpha.net#228402 "2q23.1 microdeletion syndrome"
* https://www.orpha.net#228423 "Monocytopenia with susceptibility to infections"
* https://www.orpha.net#230857 "Ehlers-Danlos/osteogenesis imperfecta syndrome"
* https://www.orpha.net#231040 "Familial generalized lentiginosis"
* https://www.orpha.net#231226 "Dominant beta-thalassemia"
* https://www.orpha.net#231568 "Autosomal dominant generalized dystrophic epidermolysis bullosa"
* https://www.orpha.net#231742 "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome"
* https://www.orpha.net#238523 "Atypical hypotonia-cystinuria syndrome"
* https://www.orpha.net#238569 "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"
* https://www.orpha.net#238583 "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency"
* https://www.orpha.net#238624 "Idiopathic intracranial hypertension"
* https://www.orpha.net#238666 "Isolated congenital hypogonadotropic hypogonadism"
* https://www.orpha.net#238763 "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea"
* https://www.orpha.net#247378 "Autosomal recessive secondary polycythemia not associated with VHL gene"
* https://www.orpha.net#247525 "Citrullinemia type I"
* https://www.orpha.net#247638 "Prenatal benign hypophosphatasia"
* https://www.orpha.net#247685 "Odontohypophosphatasia"
* https://www.orpha.net#250989 "1q21.1 microdeletion syndrome"
* https://www.orpha.net#251028 "SATB2-associated syndrome due to a chromosomal rearrangement"
* https://www.orpha.net#251380 "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"
* https://www.orpha.net#251623 "Pituicytoma"
* https://www.orpha.net#251630 "Anaplastic oligodendroglioma"
* https://www.orpha.net#251855 "Anaplastic/large cell medulloblastoma"
* https://www.orpha.net#251867 "Classic medulloblastoma"
* https://www.orpha.net#251877 "Ganglioneuroblastoma"
* https://www.orpha.net#251915 "Papillary tumor of the pineal region"
* https://www.orpha.net#251937 "Gangliocytoma"
* https://www.orpha.net#252006 "Yolk sac tumor of central nervous system"
* https://www.orpha.net#252021 "Mixed germ cell tumor of central nervous system"
* https://www.orpha.net#252046 "Meningeal melanocytoma"
* https://www.orpha.net#254334 "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"
* https://www.orpha.net#254449 "Atrophic lichen planus"
* https://www.orpha.net#254478 "Lichen planus pemphigoides"
* https://www.orpha.net#254519 "Kagami-Ogata syndrome"
* https://www.orpha.net#254525 "Temple syndrome due to paternal 14q32.2 microdeletion"
* https://www.orpha.net#254534 "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"
* https://www.orpha.net#254898 "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome"
* https://www.orpha.net#255132 "Adult-onset autosomal recessive sideroblastic anemia"
* https://www.orpha.net#255138 "Pyruvate dehydrogenase E1-beta deficiency"
* https://www.orpha.net#255210 "Mitochondrial DNA-associated Leigh syndrome"
* https://www.orpha.net#261120 "14q11.2 microdeletion syndrome"
* https://www.orpha.net#261243 "16p13.11 microduplication syndrome"
* https://www.orpha.net#261279 "17q23.1q23.2 microdeletion syndrome"
* https://www.orpha.net#261290 "Trisomy 17p"
* https://www.orpha.net#261537 "Mowat-Wilson syndrome due to monosomy 2q22"
* https://www.orpha.net#263432 "Nevus of Ito"
* https://www.orpha.net#263455 "Congenital hyperinsulinism due to HNF4A deficiency"
* https://www.orpha.net#263479 "Fuchs heterochromic iridocyclitis"
* https://www.orpha.net#264200 "14q22q23 microdeletion syndrome"
* https://www.orpha.net#264691 "Isolated pulmonary capillaritis"
* https://www.orpha.net#268173 "Intermittent maple syrup urine disease"
* https://www.orpha.net#268363 "Open iniencephaly"
* https://www.orpha.net#268943 "Unilateral polymicrogyria"
* https://www.orpha.net#269209 "Isolated partial cerebellar vermis agenesis"
* https://www.orpha.net#269221 "Isolated bilateral hemispheric cerebellar hypoplasia"
* https://www.orpha.net#269510 "Congenital non-communicating hydrocephalus"
* https://www.orpha.net#276066 "Bile acid CoA ligase deficiency and defective amidation"
* https://www.orpha.net#276608 "Non-insulinoma pancreatogenous hypoglycemia syndrome"
* https://www.orpha.net#279928 "Paraneoplastic uveitis"
* https://www.orpha.net#279934 "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"
* https://www.orpha.net#280205 "Laryngotracheoesophageal cleft type 0"
* https://www.orpha.net#280210 "Pelizaeus-Merzbacher disease, connatal form"
* https://www.orpha.net#280302 "Autoimmune pancreatitis type 1"
* https://www.orpha.net#280325 "Distal deletion 12p"
* https://www.orpha.net#280384 "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"
* https://www.orpha.net#280397 "Familial Alzheimer-like prion disease"
* https://www.orpha.net#280779 "Cutaneous collagenous vasculopathy"
* https://www.orpha.net#284139 "Larsen-like syndrome, B3GAT3 type"
* https://www.orpha.net#284271 "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome"
* https://www.orpha.net#284289 "Adult-onset autosomal recessive cerebellar ataxia"
* https://www.orpha.net#284324 "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"
* https://www.orpha.net#284411 "Glycerol kinase deficiency, juvenile form"
* https://www.orpha.net#284979 "Neonatal Marfan syndrome"
* https://www.orpha.net#289377 "Early-onset myopathy with fatal cardiomyopathy"
* https://www.orpha.net#289478 "PASH syndrome"
* https://www.orpha.net#289483 "Intellectual disability-alacrima-achalasia syndrome"
* https://www.orpha.net#289548 "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"
* https://www.orpha.net#293202 "Epithelioid sarcoma"
* https://www.orpha.net#293284 "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"
* https://www.orpha.net#293807 "Ketamine-induced biliary dilatation"
* https://www.orpha.net#293888 "Familial isolated arrhythmogenic ventricular dysplasia, left dominant form"
* https://www.orpha.net#294023 "Neonatal inflammatory skin and bowel disease"
* https://www.orpha.net#294969 "Amelia of lower limb"
* https://www.orpha.net#294977 "Congenital absence of thigh and lower leg with foot present"
* https://www.orpha.net#295002 "Hyperphalangy"
* https://www.orpha.net#295004 "Central polydactyly"
* https://www.orpha.net#295016 "Camptodactyly of fingers"
* https://www.orpha.net#295044 "Macrodactyly of fingers"
* https://www.orpha.net#295051 "Lower limb hypertrophy"
* https://www.orpha.net#295199 "Synpolydactyly type 3"
* https://www.orpha.net#295203 "Congenital vertical talus, bilateral"
* https://www.orpha.net#295217 "Radio-ulnar synostosis, unilateral"
* https://www.orpha.net#295225 "Congenital elbow dislocation, unilateral"
* https://www.orpha.net#300313 "Congenital cataract-hearing loss-severe developmental delay syndrome"
* https://www.orpha.net#300324 "Persistent polyclonal B-cell lymphocytosis"
* https://www.orpha.net#300345 "Autosomal systemic lupus erythematosus"
* https://www.orpha.net#300501 "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome"
* https://www.orpha.net#300504 "Onychocytic matricoma"
* https://www.orpha.net#300557 "Carcinoma of the ampulla of Vater"
* https://www.orpha.net#306431 "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies"
* https://www.orpha.net#306504 "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome"
* https://www.orpha.net#306669 "Hemiparkinsonism-hemiatrophy syndrome"
* https://www.orpha.net#306692 "Cyanide-induced parkinsonism-dystonia"
* https://www.orpha.net#306776 "Sporadic hyperekplexia"
* https://www.orpha.net#307766 "Curly hair-acral keratoderma-caries syndrome"
* https://www.orpha.net#308638 "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form"
* https://www.orpha.net#309020 "Familial apolipoprotein C-II deficiency"
* https://www.orpha.net#309192 "Tay-Sachs disease, B variant, adult form"
* https://www.orpha.net#309246 "GM2 gangliosidosis, AB variant"
* https://www.orpha.net#309297 "Mucopolysaccharidosis type 4A"
* https://www.orpha.net#309310 "Mucopolysaccharidosis type 4B"
* https://www.orpha.net#313795 "Jawad syndrome"
* https://www.orpha.net#313855 "FGFR2-related bent bone dysplasia"
* https://www.orpha.net#314597 "Chudley-McCullough syndrome"
* https://www.orpha.net#314603 "Autosomal recessive spastic ataxia with leukoencephalopathy"
* https://www.orpha.net#314613 "Growing teratoma syndrome"
* https://www.orpha.net#314652 "Variant ABeta2M amyloidosis"
* https://www.orpha.net#314662 "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"
* https://www.orpha.net#314709 "Primary localized amyloidosis"
* https://www.orpha.net#314721 "Atypical dentin dysplasia due to SMOC2 deficiency"
* https://www.orpha.net#314786 "Silent pituitary adenoma"
* https://www.orpha.net#314889 "Autosomal dominant proximal renal tubular acidosis"
* https://www.orpha.net#314911 "Severe Canavan disease"
* https://www.orpha.net#314962 "Secondary hypereosinophilic syndrome"
* https://www.orpha.net#315311 "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"
* https://www.orpha.net#317473 "Pancytopenia due to IKZF1 mutations"
* https://www.orpha.net#319160 "Congenital myopathy with internal nuclei and atypical cores"
* https://www.orpha.net#319171 "Distal 17p13.1 microdeletion syndrome"
* https://www.orpha.net#319189 "Familial cortical myoclonus"
* https://www.orpha.net#319199 "Autosomal recessive spastic paraplegia type 53"
* https://www.orpha.net#319234 "Venezuelan hemorrhagic fever"
* https://www.orpha.net#319303 "Chromophobe renal cell carcinoma"
* https://www.orpha.net#319325 "Tubulocystic renal cell carcinoma"
* https://www.orpha.net#319514 "Combined oxidative phosphorylation defect type 13"
* https://www.orpha.net#319563 "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"
* https://www.orpha.net#319581 "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
* https://www.orpha.net#319612 "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"
* https://www.orpha.net#319623 "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"
* https://www.orpha.net#324561 "Hypopigmentation-punctate palmoplantar keratoderma syndrome"
* https://www.orpha.net#324581 "Benign Samaritan congenital myopathy"
* https://www.orpha.net#324601 "X-linked cleft palate and ankyloglossia"
* https://www.orpha.net#324703 "ABetaL34V amyloidosis"
* https://www.orpha.net#325448 "Leydig cell hypoplasia due to LHB deficiency"
* https://www.orpha.net#325524 "Classic congenital lipoid adrenal hyperplasia due to STAR deficency"
* https://www.orpha.net#329336 "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"
* https://www.orpha.net#329894 "Juvenile overlap myositis"
* https://www.orpha.net#330058 "Hydroa vacciniforme"
* https://www.orpha.net#352479 "ISPD-related limb-girdle muscular dystrophy R20"
* https://www.orpha.net#352490 "Autism spectrum disorder due to AUTS2 deficiency"
* https://www.orpha.net#352712 "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"
* https://www.orpha.net#352734 "Minimal pigment oculocutaneous albinism type 1"
* https://www.orpha.net#353334 "Congenital retinal arteriovenous communication"
* https://www.orpha.net#356978 "D,L-2-hydroxyglutaric aciduria"
* https://www.orpha.net#357225 "Primary non-essential cutis verticis gyrata"
* https://www.orpha.net#363432 "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"
* https://www.orpha.net#363454 "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
* https://www.orpha.net#363528 "Intellectual disability-strabismus syndrome"
* https://www.orpha.net#363611 "CTCF-related neurodevelopmental disorder"
* https://www.orpha.net#363654 "X-linked parkinsonism-spasticity syndrome"
* https://www.orpha.net#363665 "Acroosteolysis-keloid-like lesions-premature aging syndrome"
* https://www.orpha.net#363710 "Spinocerebellar ataxia type 37"
* https://www.orpha.net#363746 "Balint syndrome"
* https://www.orpha.net#363958 "17q21.31 microdeletion syndrome"
* https://www.orpha.net#364577 "Intellectual disability-brachydactyly-Pierre Robin syndrome"
* https://www.orpha.net#369873 "Obesity due to SIM1 deficiency"
* https://www.orpha.net#369992 "Severe dermatitis-multiple allergies-metabolic wasting syndrome"
* https://www.orpha.net#370002 "Focal palmoplantar keratoderma with joint keratoses"
* https://www.orpha.net#370034 "Familial syringomyelia"
* https://www.orpha.net#370980 "Congenital muscular dystrophy without intellectual disability"
* https://www.orpha.net#391366 "Growth retardation-mild developmental delay-chronic hepatitis syndrome"
* https://www.orpha.net#391411 "Atypical juvenile parkinsonism"
* https://www.orpha.net#391490 "Adult-onset myasthenia gravis"
* https://www.orpha.net#391504 "Transient neonatal myasthenia gravis"
* https://www.orpha.net#391651 "Glomus tumor"
* https://www.orpha.net#394532 "Multiple acyl-CoA dehydrogenase deficiency, mild type"
* https://www.orpha.net#397587 "Deep dermatophytosis"
* https://www.orpha.net#397593 "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"
* https://www.orpha.net#397615 "Obesity due to CEP19 deficiency"
* https://www.orpha.net#397618 "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"
* https://www.orpha.net#397946 "Autosomal spastic paraplegia type 58"
* https://www.orpha.net#398058 "Squamous cell carcinoma of the penis"
* https://www.orpha.net#398147 "Persistent idiopathic facial pain"
* https://www.orpha.net#398987 "Malignant teratoma of ovary"
* https://www.orpha.net#399175 "Traumatic avascular necrosis"
* https://www.orpha.net#399808 "Male infertility with teratozoospermia due to single gene mutation"
* https://www.orpha.net#401764 "Pancytopenia-developmental delay syndrome"
* https://www.orpha.net#401780 "Autosomal recessive spastic paraplegia type 61"
* https://www.orpha.net#401840 "Autosomal recessive spastic paraplegia type 71"
* https://www.orpha.net#401911 "AXIN2-related attenuated familial adenomatous polyposis"
* https://www.orpha.net#401920 "Fibrolamellar hepatocellular carcinoma"
* https://www.orpha.net#401945 "Moyamoya disease with early-onset achalasia"
* https://www.orpha.net#402823 "Hepatitis delta"
* https://www.orpha.net#404437 "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"
* https://www.orpha.net#404448 "ADNP syndrome"
* https://www.orpha.net#404521 "Spinal muscular atrophy with respiratory distress type 2"
* https://www.orpha.net#404546 "DITRA"
* https://www.orpha.net#411641 "Ocular cystinosis"
* https://www.orpha.net#411696 "Proton-pump inhibitor-responsive esophageal eosinophilia"
* https://www.orpha.net#411709 "Renal agenesis"
* https://www.orpha.net#411986 "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
* https://www.orpha.net#412057 "Autosomal recessive cerebellar ataxia due to STUB1 deficiency"
* https://www.orpha.net#412217 "Dystonia-aphonia syndrome"
* https://www.orpha.net#418951 "Undifferentiated carcinoma of esophagus"
* https://www.orpha.net#420702 "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"
* https://www.orpha.net#423384 "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"
* https://www.orpha.net#423461 "Mucolipidosis type III alpha/beta"
* https://www.orpha.net#424073 "Serous cystadenocarcinoma of pancreas"
* https://www.orpha.net#424099 "Colobomatous microphthalmia-rhizomelic dysplasia syndrome"
* https://www.orpha.net#435387 "Autosomal dominant Charcot-Marie-Tooth disease type 2Y"
* https://www.orpha.net#435819 "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"
* https://www.orpha.net#436166 "Periodic fever-infantile enterocolitis-autoinflammatory syndrome"
* https://www.orpha.net#436274 "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"
* https://www.orpha.net#438207 "Severe autosomal recessive macrothrombocytopenia"
* https://www.orpha.net#438266 "Progressive encephalomyelitis with rigidity and myoclonus"
* https://www.orpha.net#439196 "Zinc-responsive necrolytic acral erythema"
* https://www.orpha.net#439218 "KCNQ2-related epileptic encephalopathy"
* https://www.orpha.net#440233 "Congenital abducens nerve palsy"
* https://www.orpha.net#441447 "Early-onset posterior subcapsular cataract"
* https://www.orpha.net#444013 "Combined oxidative phosphorylation defect type 23"
* https://www.orpha.net#444092 "Autoimmune interstitial lung disease-arthritis syndrome"
* https://www.orpha.net#445062 "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"
* https://www.orpha.net#445110 "Limb-girdle muscular dystrophy due to POMK deficiency"
* https://www.orpha.net#447961 "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"
* https://www.orpha.net#448251 "Progressive autosomal recessive ataxia-deafness syndrome"
* https://www.orpha.net#449285 "Snakebite envenomation"
* https://www.orpha.net#449400 "IgG4-related aortitis"
* https://www.orpha.net#450322 "Polyclonal hyperviscosity syndrome"
* https://www.orpha.net#454723 "Endometrioid carcinoma of ovary"
* https://www.orpha.net#454750 "Isolated tracheoesophageal fistula"
* https://www.orpha.net#29 "Mevalonic aciduria"
* https://www.orpha.net#39 "Acromelanosis"
* https://www.orpha.net#43 "X-linked adrenoleukodystrophy"
* https://www.orpha.net#45 "Adenosine monophosphate deaminase deficiency"
* https://www.orpha.net#46 "Adenylosuccinate lyase deficiency"
* https://www.orpha.net#47 "X-linked agammaglobulinemia"
* https://www.orpha.net#56 "Alkaptonuria"
* https://www.orpha.net#63 "Alport syndrome"
* https://www.orpha.net#70 "Proximal spinal muscular atrophy"
* https://www.orpha.net#83 "Antley-Bixler syndrome"
* https://www.orpha.net#87 "Apert syndrome"
* https://www.orpha.net#109 "Bannayan-Riley-Ruvalcaba syndrome"
* https://www.orpha.net#111 "Barth syndrome"
* https://www.orpha.net#115 "Congenital contractural arachnodactyly"
* https://www.orpha.net#142 "Anaplastic thyroid carcinoma"
* https://www.orpha.net#456318 "Hereditary sensory neuropathy-deafness-dementia syndrome"
* https://www.orpha.net#457050 "Autosomal dominant mitochondrial myopathy with exercise intolerance"
* https://www.orpha.net#457212 "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"
* https://www.orpha.net#458718 "Idiopathic spontaneous coronary artery dissection"
* https://www.orpha.net#458785 "Partially involuting congenital hemangioma"
* https://www.orpha.net#459051 "Spondyloepiphyseal dysplasia, Stanescu type"
* https://www.orpha.net#464738 "Basel-Vanagaite-Smirin-Yosef syndrome"
* https://www.orpha.net#466026 "Class I glucose-6-phosphate dehydrogenase deficiency"
* https://www.orpha.net#466926 "Seizures-scoliosis-macrocephaly syndrome"
* https://www.orpha.net#466934 "VPS11-related autosomal recessive hypomyelinating leukodystrophy"
* https://www.orpha.net#468641 "Chronic enteropathy associated with SLCO2A1 gene"
* https://www.orpha.net#468678 "White-Sutton syndrome"
* https://www.orpha.net#476113 "Combined immunodeficiency due to TFRC deficiency"
* https://www.orpha.net#476126 "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"
* https://www.orpha.net#477749 "Pontine autosomal dominant microangiopathy with leukoencephalopathy"
* https://www.orpha.net#480491 "MYO5B-related progressive familial intrahepatic cholestasis"
* https://www.orpha.net#482601 "Adenylosuccinate synthetase-like 1-related distal myopathy"
* https://www.orpha.net#494451 "Vulvar basal cell carcinoma"
* https://www.orpha.net#494454 "Vulvar adenocarcinoma"
* https://www.orpha.net#494550 "Squamous cell carcinoma of the larynx"
* https://www.orpha.net#495274 "Charcot-Marie-Tooth disease type 2T"
* https://www.orpha.net#495879 "Congenital agenesis of the scrotum"
* https://www.orpha.net#496686 "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"
* https://www.orpha.net#498497 "Short rib-polydactyly syndrome type 5"
* https://www.orpha.net#499085 "Chronic relapsing inflammatory optic neuropathy"
* https://www.orpha.net#499103 "Recurrent idiopathic neuroretinitis"
* https://www.orpha.net#500135 "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"
* https://www.orpha.net#500144 "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"
* https://www.orpha.net#502423 "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"
* https://www.orpha.net#502430 "Metopic ridging-ptosis-facial dysmorphism syndrome"
* https://www.orpha.net#505395 "Ventilator-induced diaphragmatic dysfunction"
* https://www.orpha.net#506090 "Serotonin-producing neuroendocrine tumor of pancreas"
* https://www.orpha.net#506358 "Gabriele-de Vries syndrome"
* https://www.orpha.net#519388 "Autosomal recessive anterior segment dysgenesis"
* https://www.orpha.net#519404 "Optic disc pit"
* https://www.orpha.net#521258 "Xq25 microduplication syndrome"
* https://www.orpha.net#521426 "PLAA-associated neurodevelopmental disorder"
* https://www.orpha.net#521450 "LAMA5-related multisystemic syndrome"
* https://www.orpha.net#522037 "Primary autoimmune enteropathy"
* https://www.orpha.net#529977 "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"
* https://www.orpha.net#530838 "KRT1-related diffuse nonepidermolytic keratoderma"
* https://www.orpha.net#530983 "Lamb-Shaffer syndrome"
* https://www.orpha.net#535453 "Familial lipase maturation factor 1 deficiency"
* https://www.orpha.net#536471 "Spondylodysplastic Ehlers-Danlos syndrome"
* https://www.orpha.net#538934 "X-linked lymphoproliferative disease due to XIAP deficiency"
* https://www.orpha.net#542310 "Leukoencephalopathy with calcifications and cysts"
* https://www.orpha.net#542592 "Necrobiosis lipoidica"
* https://www.orpha.net#542657 "Isolated hyperchlorhidrosis"
* https://www.orpha.net#544482 "Infection-related hemolytic uremic syndrome"
* https://www.orpha.net#544488 "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome"
* https://www.orpha.net#544503 "RNF13-related severe early-onset epileptic encephalopathy"
* https://www.orpha.net#555877 "FLNA-related X-linked myxomatous valvular dysplasia"
* https://www.orpha.net#561854 "FOXG1 syndrome"
* https://www.orpha.net#562509 "Heme oxygenase-1 deficiency"
* https://www.orpha.net#562559 "Anterior maxillary protrusion-strabismus-intellectual disability syndrome"
* https://www.orpha.net#562569 "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"
* https://www.orpha.net#563690 "Furuncular myiasis due to Cordylobia rodhaini"
* https://www.orpha.net#145 "Hereditary breast and/or ovarian cancer syndrome"
* https://www.orpha.net#154 "Familial isolated dilated cardiomyopathy"
* https://www.orpha.net#169 "Ringed hair disease"
* https://www.orpha.net#170 "Woolly hair"
* https://www.orpha.net#173 "Cholera"
* https://www.orpha.net#185 "Scimitar syndrome"
* https://www.orpha.net#186 "Primary biliary cholangitis"
* https://www.orpha.net#195 "Cat-eye syndrome"
* https://www.orpha.net#235 "Dubowitz syndrome"
* https://www.orpha.net#249 "Fibrous dysplasia of bone"
* https://www.orpha.net#280 "Wolf-Hirschhorn syndrome"
* https://www.orpha.net#295 "Fetal parvovirus syndrome"
* https://www.orpha.net#297 "Tick-borne encephalitis"
* https://www.orpha.net#302 "Epidermodysplasia verruciformis"
* https://www.orpha.net#317 "Erythrokeratodermia variabilis"
* https://www.orpha.net#330 "Congenital factor XII deficiency"
* https://www.orpha.net#335 "Congenital fibrinogen deficiency"
* https://www.orpha.net#342 "Familial Mediterranean fever"
* https://www.orpha.net#343 "Hyperimmunoglobulinemia D with periodic fever"
* https://www.orpha.net#348 "Fructose-1,6-bisphosphatase deficiency"
* https://www.orpha.net#349 "Fucosidosis"
* https://www.orpha.net#366 "Glycogen storage disease due to glycogen debranching enzyme deficiency"
* https://www.orpha.net#368 "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"
* https://www.orpha.net#371 "Glycogen storage disease due to muscle phosphofructokinase deficiency"
* https://www.orpha.net#386 "Hepatic cystic hamartoma"
* https://www.orpha.net#392 "Holt-Oram syndrome"
* https://www.orpha.net#401 "Hymenolepiasis"
* https://www.orpha.net#404 "Familial hyperaldosteronism type II"
* https://www.orpha.net#405 "Familial hypocalciuric hypercalcemia"
* https://www.orpha.net#416 "Primary hyperoxaluria"
* https://www.orpha.net#422 "Idiopathic/heritable pulmonary arterial hypertension"
* https://www.orpha.net#429 "Hypochondroplasia"
* https://www.orpha.net#465 "Congenital plasminogen activator inhibitor type 1 deficiency"
* https://www.orpha.net#469 "Hereditary fructose intolerance"
* https://www.orpha.net#486 "Autosomal dominant severe congenital neutropenia"
* https://www.orpha.net#490 "Omphalomesenteric cyst"
* https://www.orpha.net#502 "Trichorhinophalangeal syndrome type 2"
* https://www.orpha.net#510 "Lesch-Nyhan syndrome"
* https://www.orpha.net#537 "Toxic epidermal necrolysis"
* https://www.orpha.net#558 "Marfan syndrome"
* https://www.orpha.net#560 "Marshall syndrome"
* https://www.orpha.net#561 "Marshall-Smith syndrome"
* https://www.orpha.net#572 "Immunodeficiency by defective expression of MHC class II"
* https://www.orpha.net#577 "Mucolipidosis type III"
* https://www.orpha.net#587 "Muir-Torre syndrome"
* https://www.orpha.net#589 "Myasthenia gravis"
* https://www.orpha.net#592 "Macrophagic myofasciitis"
* https://www.orpha.net#600 "Vocal cord and pharyngeal distal myopathy"
* https://www.orpha.net#602 "GNE myopathy"
* https://www.orpha.net#609 "Tibial muscular dystrophy"
* https://www.orpha.net#611 "Inclusion body myositis"
* https://www.orpha.net#621 "Hereditary methemoglobinemia"
* https://www.orpha.net#629 "Short stature due to growth hormone qualitative anomaly"
* https://www.orpha.net#643 "Giant axonal neuropathy"
* https://www.orpha.net#650 "LCAT deficiency"
* https://www.orpha.net#654 "Nephroblastoma"
* https://www.orpha.net#661 "Congenital central hypoventilation syndrome"
* https://www.orpha.net#667 "Autosomal recessive malignant osteopetrosis"
* https://www.orpha.net#701 "Alopecia universalis"
* https://www.orpha.net#716 "Phenylketonuria"
* https://www.orpha.net#727 "Microscopic polyangiitis"
* https://www.orpha.net#735 "Porokeratosis of Mibelli"
* https://www.orpha.net#741 "Familial mitral valve prolapse"
* https://www.orpha.net#566393 "Acute mast cell leukemia"
* https://www.orpha.net#566847 "Aprosencephaly/atelencephaly spectrum"
* https://www.orpha.net#566852 "Atelencephaly"
* https://www.orpha.net#567502 "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome"
* https://www.orpha.net#567552 "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy"
* https://www.orpha.net#569290 "Multiple mitochondrial dysfunctions syndrome type 6"
* https://www.orpha.net#572385 "Brachydactyly type B1"
* https://www.orpha.net#576278 "SATB2-associated syndrome"
* https://www.orpha.net#580572 "Intraductal tubulopapillary neoplasm of pancreas"
* https://www.orpha.net#580940 "QRICH1-related intellectual disability-chondrodysplasia syndrome"
* https://www.orpha.net#580951 "Punctate inner choroidopathy"
* https://www.orpha.net#583612 "Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency"
* https://www.orpha.net#585877 "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"
* https://www.orpha.net#585956 "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"
* https://www.orpha.net#589522 "Spinocerebellar ataxia type 46"
* https://www.orpha.net#589595 "Mixed phenotype acute leukemia with t(v;11q23.3)"
* https://www.orpha.net#592894 "Acute disseminated encephalomyelitis with anti-MOG antibodies"
* https://www.orpha.net#596448 "IgG4-related systemic disease"
* https://www.orpha.net#596937 "Portosinusoidal vascular disease"
* https://www.orpha.net#596941 "Incomplete septal cirrhosis"
* https://www.orpha.net#597623 "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"
* https://www.orpha.net#597939 "Euthyroid dysprealbuminemic hyperthyroxinemia"
* https://www.orpha.net#600731 "Clark-Baraitser syndrome"
* https://www.orpha.net#601013 "Non-syndromic anorectal malformation with pouch colon"
* https://www.orpha.net#611216 "Aplastic anemia-intellectual disability-dwarfism syndrome"
* https://www.orpha.net#611223 "EN1-related dorsoventral syndrome"
* https://www.orpha.net#613267 "Pontocerebellar hypoplasia type 13"
* https://www.orpha.net#615983 "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"
* https://www.orpha.net#617301 "Selective intrauterine growth restriction"
* https://www.orpha.net#619948 "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome"
* https://www.orpha.net#619972 "CADINS disease"
* https://www.orpha.net#620113 "Non-syndromic unilambdoid craniosynostosis"
* https://www.orpha.net#620205 "Non-syndromic bicoronal and sagittal craniosynostosis"
* https://www.orpha.net#620212 "Non-syndromic pansynostosis"
* https://www.orpha.net#623626 "Paraneoplastic cerebellar degeneration"
* https://www.orpha.net#624178 "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies"
* https://www.orpha.net#624268 "Non-specific autoimmune cerebellar ataxia without characteristic antibodies"
* https://www.orpha.net#631248 "Mitchell Syndrome"
* https://www.orpha.net#633024 "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"
* https://www.orpha.net#641350 "Immunotherapy induced hypophysitis"
* https://www.orpha.net#641829 "Neonatal compartment syndrome"
* https://www.orpha.net#645188 "Spinal dermal sinus"
* https://www.orpha.net#645310 "Fibroneural non-saccular limited dorsal myeloschisis"
* https://www.orpha.net#645350 "Segmental arterial mediolysis"
* https://www.orpha.net#645383 "True myelomeningocele"
* https://www.orpha.net#645854 "Multifocal tuberculosis"
* https://www.orpha.net#647815 "Keratoendotheliitis fugax hereditaria"
* https://www.orpha.net#649029 "Isolated left bronchial isomerism"
* https://www.orpha.net#650097 "Genetic central precocious puberty in male"
* https://www.orpha.net#778 "Rett syndrome"
* https://www.orpha.net#791 "Retinitis pigmentosa"
* https://www.orpha.net#819 "Smith-Magenis syndrome"
* https://www.orpha.net#826 "Sporotrichosis"
* https://www.orpha.net#828 "Stickler syndrome"
* https://www.orpha.net#834 "Free sialic acid storage disease"
* https://www.orpha.net#881 "Turner syndrome"
* https://www.orpha.net#897 "Waardenburg-Shah syndrome"
* https://www.orpha.net#906 "Wiskott-Aldrich syndrome"
* https://www.orpha.net#950 "Acrodysostosis"
* https://www.orpha.net#984 "Pulmonary agenesis"
* https://www.orpha.net#994 "Fetal akinesia deformation sequence"
* https://www.orpha.net#999 "Ermine phenotype"
* https://www.orpha.net#1020 "Early-onset autosomal dominant Alzheimer disease"
* https://www.orpha.net#1023 "Congenital generalized hypertrichosis, Ambras type"
* https://www.orpha.net#1059 "Blue rubber bleb nevus"
* https://www.orpha.net#1083 "Microlissencephaly"
* https://www.orpha.net#1084 "Isolated lissencephaly type 1 without known genetic defects"
* https://www.orpha.net#1144 "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome"
* https://www.orpha.net#1202 "Larynx atresia"
* https://www.orpha.net#1226 "Bamforth-Lazarus syndrome"
* https://www.orpha.net#1229 "Congenital intrauterine infection-like syndrome"
* https://www.orpha.net#1248 "Maxillonasal dysplasia"
* https://www.orpha.net#1262 "Böök syndrome"
* https://www.orpha.net#1267 "Botulism"
* https://www.orpha.net#1277 "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome"
* https://www.orpha.net#1305 "Feingold syndrome"
* https://www.orpha.net#1307 "Distal limb deficiencies-micrognathia syndrome"
* https://www.orpha.net#1318 "Campomelia, Cumming type"
* https://www.orpha.net#1340 "Cardiofaciocutaneous syndrome"
* https://www.orpha.net#1345 "Cardiomyopathy-cataract-hip spine disease syndrome"
* https://www.orpha.net#1354 "Heart defects-limb shortening syndrome"
* https://www.orpha.net#1383 "Cataract-deafness-hypogonadism syndrome"
* https://www.orpha.net#1390 "Night blindness-skeletal anomalies-dysmorphism syndrome"
* https://www.orpha.net#1394 "Cerebrofaciothoracic dysplasia"
* https://www.orpha.net#1416 "Familial calcium pyrophosphate deposition"
* https://www.orpha.net#1444 "Ring chromosome 20 syndrome"
* https://www.orpha.net#1449 "Ring chromosome 7 syndrome"
* https://www.orpha.net#1459 "Celiac disease-epilepsy-cerebral calcification syndrome"
* https://www.orpha.net#1465 "Coffin-Siris syndrome"
* https://www.orpha.net#1484 "Contractures-ectodermal dysplasia-cleft lip/palate syndrome"
* https://www.orpha.net#1489 "Whooping cough"
* https://www.orpha.net#1509 "Coxopodopatellar syndrome"
* https://www.orpha.net#1519 "SPECC1L-related hypertelorism syndrome"
* https://www.orpha.net#1521 "Craniofrontonasal dysplasia-Poland anomaly syndrome"
* https://www.orpha.net#1546 "Cryptococcosis"
* https://www.orpha.net#1547 "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome"
* https://www.orpha.net#1560 "Cysticercosis"
* https://www.orpha.net#1574 "Retinal degeneration-nanophthalmos-glaucoma syndrome"
* https://www.orpha.net#1621 "3q13 microdeletion syndrome"
* https://www.orpha.net#1658 "Absence of fingerprints-congenital milia syndrome"
* https://www.orpha.net#1661 "X-linked corneal dermoid"
* https://www.orpha.net#1665 "Sporadic fetal brain disruption sequence"
* https://www.orpha.net#1676 "Idiopathic pulmonary artery dilatation"
* https://www.orpha.net#1686 "Cardiac diverticulum"
* https://www.orpha.net#1702 "Non-distal duplication 13q"
* https://www.orpha.net#1703 "Mosaic trisomy 14"
* https://www.orpha.net#1705 "Distal duplication 14q"
* https://www.orpha.net#1738 "Trisomy 4p"
* https://www.orpha.net#1745 "Distal duplication 6p"
* https://www.orpha.net#1752 "Trisomy 8q"
* https://www.orpha.net#1762 "Proximal Xq28 duplication syndrome"
* https://www.orpha.net#1778 "Facial dysmorphism-shawl scrotum-joint laxity syndrome"
* https://www.orpha.net#1784 "Acrofrontofacionasal dysostosis"
* https://www.orpha.net#1787 "Acrofacial dysostosis, Palagonia type"
* https://www.orpha.net#1794 "Oculomaxillofacial dysostosis"
* https://www.orpha.net#1803 "Thoracomelic dysplasia"
* https://www.orpha.net#1806 "Ectodermal dysplasia-blindness syndrome"
* https://www.orpha.net#1810 "Autosomal dominant hypohidrotic ectodermal dysplasia"
* https://www.orpha.net#1832 "Lethal osteosclerotic bone dysplasia"
* https://www.orpha.net#1839 "Hereditary mucoepithelial dysplasia"
* https://www.orpha.net#1856 "Spondyloperipheral dysplasia-short ulna syndrome"
* https://www.orpha.net#1879 "Melorheostosis with osteopoikilosis"
* https://www.orpha.net#1914 "Vitamin K antagonist embryofetopathy"
* https://www.orpha.net#1927 "Emery-Nelson syndrome"
* https://www.orpha.net#1943 "Early-onset progressive encephalopathy with migrant continuous myoclonus"
* https://www.orpha.net#2016 "Cleft palate-lateral synechia syndrome"
* https://www.orpha.net#2023 "Undifferentiated pleomorphic sarcoma"
* https://www.orpha.net#2038 "Pulmonary arteriovenous malformation"
* https://www.orpha.net#2044 "Floating-Harbor syndrome"
* https://www.orpha.net#2057 "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome"
* https://www.orpha.net#2069 "Gastrocutaneous syndrome"
* https://www.orpha.net#2075 "Genitopalatocardiac syndrome"
* https://www.orpha.net#2077 "German syndrome"
* https://www.orpha.net#2098 "Acromesomelic dysplasia, Grebe type"
* https://www.orpha.net#2102 "GTP cyclohydrolase I deficiency"
* https://www.orpha.net#2116 "Hartnup disease"
* https://www.orpha.net#2122 "Kaposiform hemangioendothelioma"
* https://www.orpha.net#2128 "Isolated hemihyperplasia"
* https://www.orpha.net#2143 "Donnai-Barrow syndrome"
* https://www.orpha.net#2169 "Methylcobalamin deficiency type cblE"
* https://www.orpha.net#2177 "Hydranencephaly"
* https://www.orpha.net#2211 "Hypertelorism-hypospadias-polysyndactyly syndrome"
* https://www.orpha.net#2215 "Multiple pterygium-malignant hyperthermia syndrome"
* https://www.orpha.net#2221 "Acquired hypertrichosis lanuginosa"
* https://www.orpha.net#2232 "Primary hypergonadotropic hypogonadism-partial alopecia syndrome"
* https://www.orpha.net#2233 "Hypogonadism-mitral valve prolapse-intellectual disability syndrome"
* https://www.orpha.net#2248 "Hypoplastic left heart syndrome"
* https://www.orpha.net#2251 "Thumb deformity-alopecia-pigmentation anomaly syndrome"
* https://www.orpha.net#2255 "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"
* https://www.orpha.net#2257 "Primary pulmonary hypoplasia"
* https://www.orpha.net#2261 "Hypospadias-intellectual disability, Goldblatt type syndrome"
* https://www.orpha.net#2268 "ICF syndrome"
* https://www.orpha.net#2291 "Congenital velopharyngeal incompetence"
* https://www.orpha.net#2309 "Pachyonychia congenita"
* https://www.orpha.net#2310 "Absence deformity of leg-cataract syndrome"
* https://www.orpha.net#2311 "Autosomal recessive spondylocostal dysostosis"
* https://www.orpha.net#2319 "Juberg-Hayward syndrome"
* https://www.orpha.net#2329 "Karsch-Neugebauer syndrome"
* https://www.orpha.net#2340 "Keratosis follicularis spinulosa decalvans"
* https://www.orpha.net#2345 "Isolated Klippel-Feil syndrome"
* https://www.orpha.net#2363 "Lacrimoauriculodentodigital syndrome"
* https://www.orpha.net#2374 "Congenital laryngeal web"
* https://www.orpha.net#2387 "Leukonychia totalis"
* https://www.orpha.net#2398 "Multiple symmetric lipomatosis"
* https://www.orpha.net#2404 "Loiasis"
* https://www.orpha.net#2430 "Congenital macroglossia"
* https://www.orpha.net#2439 "Patterson-Stevenson-Fontaine syndrome"
* https://www.orpha.net#2451 "Mucocutaneous venous malformations"
* https://www.orpha.net#2461 "Marden-Walker syndrome"
* https://www.orpha.net#2475 "White forelock with malformations"
* https://www.orpha.net#2484 "Melnick-Needles syndrome"
* https://www.orpha.net#2491 "Müllerian duct anomalies-limb anomalies syndrome"
* https://www.orpha.net#2495 "Meningioma"
* https://www.orpha.net#2498 "Syndactyly type 8"
* https://www.orpha.net#2514 "Autosomal dominant primary microcephaly"
* https://www.orpha.net#2516 "Microcephaly-cardiac defect-lung malsegmentation syndrome"
* https://www.orpha.net#2522 "Microcephaly-cervical spine fusion anomalies syndrome"
* https://www.orpha.net#2538 "Microgastria-limb reduction defect syndrome"
* https://www.orpha.net#2549 "Oculoauriculovertebral spectrum with radial defects"
* https://www.orpha.net#2571 "X-linked immunoneurologic disorder"
* https://www.orpha.net#2572 "Spastic ataxia-corneal dystrophy syndrome"
* https://www.orpha.net#2575 "Cystic fibrosis-gastritis-megaloblastic anemia syndrome"
* https://www.orpha.net#2585 "Ataxia-pancytopenia syndrome"
* https://www.orpha.net#2596 "Myopathy and diabetes mellitus"
* https://www.orpha.net#2597 "Mitochondrial myopathy-lactic acidosis-deafness syndrome"
* https://www.orpha.net#2658 "Lenz-Majewski hyperostotic dwarfism"
* https://www.orpha.net#2666 "Adult familial nephronophthisis-spastic quadriparesia syndrome"
* https://www.orpha.net#2697 "Arthrogryposis-renal dysfunction-cholestasis syndrome"
* https://www.orpha.net#2700 "Noma"
* https://www.orpha.net#2701 "Noonan syndrome-like disorder with loose anagen hair"
* https://www.orpha.net#2710 "Oculodentodigital dysplasia"
* https://www.orpha.net#2713 "Oculoosteocutaneous syndrome"
* https://www.orpha.net#2719 "Oculocerebral hypopigmentation syndrome, Cross type"
* https://www.orpha.net#2732 "Olivopontocerebellar atrophy-deafness syndrome"
* https://www.orpha.net#2736 "Lethal omphalocele-cleft palate syndrome"
* https://www.orpha.net#2746 "Opsismodysplasia"
* https://www.orpha.net#2759 "Imperforate oropharynx-costovertebral anomalies syndrome"
* https://www.orpha.net#2771 "Bruck syndrome"
* https://www.orpha.net#2786 "Osteoporosis-oculocutaneous hypopigmentation syndrome"
* https://www.orpha.net#2795 "Fowler urethral sphincter dysfunction syndrome"
* https://www.orpha.net#2798 "Pachygyria-intellectual disability-epilepsy syndrome"
* https://www.orpha.net#2820 "Spastic paraplegia-nephritis-deafness syndrome"
* https://www.orpha.net#2822 "Autosomal recessive spastic paraplegia type 11"
* https://www.orpha.net#2825 "PARC syndrome"
* https://www.orpha.net#2841 "Familial benign chronic pemphigus"
* https://www.orpha.net#2850 "Alopecia-intellectual disability syndrome"
* https://www.orpha.net#2865 "Short stature-webbed neck-heart disease syndrome"
* https://www.orpha.net#2871 "Pfeiffer-Palm-Teller syndrome"
* https://www.orpha.net#2880 "Phosphoenolpyruvate carboxykinase deficiency"
* https://www.orpha.net#2886 "TARP syndrome"
* https://www.orpha.net#2889 "Pili torti"
* https://www.orpha.net#2890 "Pili torti-onychodysplasia syndrome"
* https://www.orpha.net#2901 "Neuralgic amyotrophy"
* https://www.orpha.net#2903 "Familial spontaneous pneumothorax"
* https://www.orpha.net#2919 "Orofaciodigital syndrome type 5"
* https://www.orpha.net#2930 "Cronkhite-Canada syndrome"
* https://www.orpha.net#2935 "Crossed polysyndactyly"
* https://www.orpha.net#2946 "Brachydactyly-long thumb syndrome"
* https://www.orpha.net#2965 "Prolactinoma"
* https://www.orpha.net#2978 "Chronic intestinal pseudoobstruction"
* https://www.orpha.net#2988 "Pterygium colli-intellectual disability-digital anomalies syndrome"
* https://www.orpha.net#2990 "Autosomal recessive multiple pterygium syndrome"
* https://www.orpha.net#3004 "Mirror polydactyly-vertebral segmentation-limbs defects syndrome"
* https://www.orpha.net#3005 "Pyle disease"
* https://www.orpha.net#3044 "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"
* https://www.orpha.net#3047 "Blepharophimosis-intellectual disability syndrome, SBBYS type"
* https://www.orpha.net#3085 "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome"
* https://www.orpha.net#3092 "Fixed subaortic stenosis"
* https://www.orpha.net#3095 "Atypical Rett syndrome"
* https://www.orpha.net#3121 "Ruvalcaba syndrome"
* https://www.orpha.net#3137 "Alpha-N-acetylgalactosaminidase deficiency"
* https://www.orpha.net#3172 "Eyebrow duplication-syndactyly syndrome"
* https://www.orpha.net#3202 "Dehydrated hereditary stomatocytosis"
* https://www.orpha.net#3219 "Fountain syndrome"
* https://www.orpha.net#3230 "Deafness-oligodontia syndrome"
* https://www.orpha.net#3248 "Distal symphalangism"
* https://www.orpha.net#3255 "Filippi syndrome"
* https://www.orpha.net#3275 "Spondylocarpotarsal synostosis"
* https://www.orpha.net#3282 "Multifocal atrial tachycardia"
* https://www.orpha.net#3291 "Teebi-Shaltout syndrome"
* https://www.orpha.net#3301 "Tetraamelia-multiple malformations syndrome"
* https://www.orpha.net#3304 "Fallot complex-intellectual disability-growth delay syndrome"
* https://www.orpha.net#3341 "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"
* https://www.orpha.net#3344 "Weismann-Netter syndrome"
* https://www.orpha.net#3348 "Tracheobronchopathia osteochondroplastica"
* https://www.orpha.net#3353 "Trichodermodysplasia-dental alterations syndrome"
* https://www.orpha.net#3368 "Trigonocephaly-bifid nose-acral anomalies syndrome"
* https://www.orpha.net#3378 "Trisomy 13"
* https://www.orpha.net#3392 "Tularemia"
* https://www.orpha.net#3409 "Urban-Rogers-Meyer syndrome"
* https://www.orpha.net#3411 "Double uterus-hemivagina-renal agenesis syndrome"
* https://www.orpha.net#3416 "Hyperostosis corticalis generalisata"
* https://www.orpha.net#3453 "Autoimmune polyendocrinopathy type 1"
* https://www.orpha.net#3455 "Wiedemann-Rautenstrauch syndrome"
* https://www.orpha.net#26790 "Pseudomyxoma peritonei"
* https://www.orpha.net#26792 "Short chain acyl-CoA dehydrogenase deficiency"
* https://www.orpha.net#31204 "Nocardiosis"
* https://www.orpha.net#31825 "Methanol poisoning"
* https://www.orpha.net#33067 "Metaphyseal chondrodysplasia, Jansen type"
* https://www.orpha.net#33069 "Dravet syndrome"
* https://www.orpha.net#33314 "Jessner lymphocytic infiltration of the skin"
* https://www.orpha.net#33574 "Glutamate-cysteine ligase deficiency"
* https://www.orpha.net#34514 "Telethonin-related limb-girdle muscular dystrophy R7"
* https://www.orpha.net#35093 "Non-syndromic sagittal craniosynostosis"
* https://www.orpha.net#35858 "Imerslund-Gräsbeck syndrome"
* https://www.orpha.net#36234 "Bacterial toxic-shock syndrome"
* https://www.orpha.net#36238 "Staphylococcal necrotizing pneumonia"
* https://www.orpha.net#36355 "Bleeding disorder due to P2Y12 defect"
* https://www.orpha.net#36397 "Adiposis dolorosa"
* https://www.orpha.net#42775 "PHACE syndrome"
* https://www.orpha.net#47045 "Familial cold urticaria"
* https://www.orpha.net#48431 "Congenital cataracts-facial dysmorphism-neuropathy syndrome"
* https://www.orpha.net#48736 "Embryonal carcinoma of the central nervous system"
* https://www.orpha.net#52047 "Braddock syndrome"
* https://www.orpha.net#52056 "Ulnar/fibula ray defect-brachydactyly syndrome"
* https://www.orpha.net#52530 "Pseudo-von Willebrand disease"
* https://www.orpha.net#52901 "Isolated follicle stimulating hormone deficiency"
* https://www.orpha.net#53271 "Muenke syndrome"
* https://www.orpha.net#53696 "Arthrogryposis-anterior horn cell disease syndrome"
* https://www.orpha.net#54057 "Thrombotic thrombocytopenic purpura"
* https://www.orpha.net#54260 "Left ventricular noncompaction"
* https://www.orpha.net#54595 "Craniopharyngioma"
* https://www.orpha.net#57145 "SUNCT syndrome"
* https://www.orpha.net#58017 "Classic hairy cell leukemia"
* https://www.orpha.net#58040 "Osteoblastoma"
* https://www.orpha.net#59135 "Laing early-onset distal myopathy"
* https://www.orpha.net#60033 "Idiopathic bronchiectasis"
* https://www.orpha.net#64542 "Acrofacial dysostosis, Kennedy-Teebi type"
* https://www.orpha.net#64692 "Oroya fever"
* https://www.orpha.net#64720 "Leiomyosarcoma"
* https://www.orpha.net#64743 "Hepatoportal sclerosis"
* https://www.orpha.net#65250 "Perineural cyst"
* https://www.orpha.net#65284 "Biotin-thiamine-responsive basal ganglia disease"
* https://www.orpha.net#65682 "Benign recurrent intrahepatic cholestasis"
* https://www.orpha.net#65720 "Arthrogryposis-severe scoliosis syndrome"
* https://www.orpha.net#66625 "Cerebrooculonasal syndrome"
* https://www.orpha.net#66631 "CEDNIK syndrome"
* https://www.orpha.net#69125 "Anonychia with flexural pigmentation"
* https://www.orpha.net#69745 "Warty dyskeratoma"
* https://www.orpha.net#71275 "Rh deficiency syndrome"
* https://www.orpha.net#71505 "Cancer-associated retinopathy"
* https://www.orpha.net#71518 "Benign paroxysmal torticollis of infancy"
* https://www.orpha.net#73246 "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome"
* https://www.orpha.net#75377 "Central areolar choroidal dystrophy"
* https://www.orpha.net#75840 "Congenital muscular dystrophy, Ullrich type"
* https://www.orpha.net#77300 "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome"
* https://www.orpha.net#79086 "Acquired generalized lipodystrophy"
* https://www.orpha.net#79097 "Folinic acid-responsive seizures"
* https://www.orpha.net#79099 "Interstitial granulomatous dermatitis with arthritis"
* https://www.orpha.net#79102 "Thyrotoxic periodic paralysis"
* https://www.orpha.net#79105 "Myxofibrosarcoma"
* https://www.orpha.net#79124 "Hepatic veno-occlusive disease-immunodeficiency syndrome"
* https://www.orpha.net#79157 "2-methylbutyryl-CoA dehydrogenase deficiency"
* https://www.orpha.net#79242 "Holocarboxylase synthetase deficiency"
* https://www.orpha.net#79243 "Pyruvate dehydrogenase E1-alpha deficiency"
* https://www.orpha.net#79253 "Mild phenylketonuria"
* https://www.orpha.net#79273 "Hereditary coproporphyria"
* https://www.orpha.net#79279 "Alpha-N-acetylgalactosaminidase deficiency type 1"
* https://www.orpha.net#79302 "Congenital bile acid synthesis defect type 3"
* https://www.orpha.net#79305 "Progressive familial intrahepatic cholestasis type 3"
* https://www.orpha.net#79306 "Progressive familial intrahepatic cholestasis type 1"
* https://www.orpha.net#79318 "PMM2-CDG"
* https://www.orpha.net#79319 "MPI-CDG"
* https://www.orpha.net#79326 "ALG2-CDG"
* https://www.orpha.net#79328 "ALG9-CDG"
* https://www.orpha.net#79351 "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"
* https://www.orpha.net#79395 "Keratoderma hereditarium mutilans with ichthyosis"
* https://www.orpha.net#79399 "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"
* https://www.orpha.net#79502 "Punctate palmoplantar keratoderma type 2"
* https://www.orpha.net#83450 "Regional odontodysplasia"
* https://www.orpha.net#83461 "Congenital primary aphakia"
* https://www.orpha.net#83483 "La Crosse encephalitis"
* https://www.orpha.net#83484 "St. Louis encephalitis"
* https://www.orpha.net#83600 "Encephalitis lethargica"
* https://www.orpha.net#83620 "Enteric anendocrinosis"
* https://www.orpha.net#83628 "LUMBAR syndrome"
* https://www.orpha.net#84081 "Senior-Boichis syndrome"
* https://www.orpha.net#84132 "Desmin-related myopathy with Mallory body-like inclusions"
* https://www.orpha.net#84142 "Isaacs syndrome"
* https://www.orpha.net#85166 "Platyspondylic dysplasia, Torrance type"
* https://www.orpha.net#85186 "Endosteal sclerosis-cerebellar hypoplasia syndrome"
* https://www.orpha.net#85198 "Dysspondyloenchondromatosis"
* https://www.orpha.net#85202 "Keutel syndrome"
* https://www.orpha.net#85203 "Acropectoral syndrome"
* https://www.orpha.net#85274 "Syndromic X-linked intellectual disability 7"
* https://www.orpha.net#85276 "X-linked intellectual disability, Armfield type"
* https://www.orpha.net#85325 "X-linked intellectual disability, Stevenson type"
* https://www.orpha.net#86309 "DPAGT1-CDG"
* https://www.orpha.net#86788 "X-linked severe congenital neutropenia"
* https://www.orpha.net#86820 "Familial avascular necrosis of femoral head"
* https://www.orpha.net#86850 "Myeloid sarcoma"
* https://www.orpha.net#86871 "T-cell prolymphocytic leukemia"
* https://www.orpha.net#86885 "Primary cutaneous peripheral T-cell lymphoma not otherwise specified"
* https://www.orpha.net#86904 "Methotrexate-associated lymphoproliferative disorders"
* https://www.orpha.net#86909 "Myoclonic epilepsy of infancy"
* https://www.orpha.net#88621 "Ichthyosis-prematurity syndrome"
* https://www.orpha.net#88633 "Superior limbic keratoconjunctivitis"
* https://www.orpha.net#88639 "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"
* https://www.orpha.net#88918 "Autosomal dominant Alport syndrome"
* https://www.orpha.net#88924 "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"
* https://www.orpha.net#90024 "Deafness with labyrinthine aplasia, microtia, and microdontia"
* https://www.orpha.net#90059 "Sudden sensorineural hearing loss"
* https://www.orpha.net#90080 "Scarring in glaucoma filtration surgical procedures"
* https://www.orpha.net#90118 "Severe early-onset axonal neuropathy due to MFN2 deficiency"
* https://www.orpha.net#90321 "Cockayne syndrome type 1"
* https://www.orpha.net#90324 "Cockayne syndrome type 3"
* https://www.orpha.net#90354 "Brittle cornea syndrome"
* https://www.orpha.net#90398 "Localized lichen myxedematosus with mixed features of different subtypes"
* https://www.orpha.net#90636 "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB"
* https://www.orpha.net#90653 "Stickler syndrome type 1"
* https://www.orpha.net#90695 "Non-acquired panhypopituitarism"
* https://www.orpha.net#90797 "Partial androgen insensitivity syndrome"
* https://www.orpha.net#91127 "Adenovirus infection in immunocompromised patients"
* https://www.orpha.net#91132 "Ichthyosis-hypotrichosis syndrome"
* https://www.orpha.net#91139 "Simple cryoglobulinemia"
* https://www.orpha.net#91347 "TSH-secreting pituitary adenoma"
* https://www.orpha.net#93297 "Hypochondrogenesis"
* https://www.orpha.net#93316 "Spondylometaphyseal dysplasia, Schmidt type"
* https://www.orpha.net#93317 "Spondylometaphyseal dysplasia, Sedaghatian type"
* https://www.orpha.net#93323 "Fibular hemimelia"
* https://www.orpha.net#93333 "Pelviscapular dysplasia"
* https://www.orpha.net#93337 "Polydactyly of an index finger"
* https://www.orpha.net#93383 "Brachydactyly type B"
* https://www.orpha.net#93398 "Genochondromatosis type 2"
* https://www.orpha.net#93474 "Scheie syndrome"
* https://www.orpha.net#93560 "AApoAI amyloidosis"
* https://www.orpha.net#93561 "ALys amyloidosis"
* https://www.orpha.net#93585 "Immune-mediated thrombotic thrombocytopenic purpura"
* https://www.orpha.net#93589 "Late-onset nephronophthisis"
* https://www.orpha.net#93591 "Infantile nephronophthisis"
* https://www.orpha.net#93592 "Juvenile nephronophthisis"
* https://www.orpha.net#93612 "Cystinuria type A"
* https://www.orpha.net#93921 "Full schwannomatosis"
* https://www.orpha.net#93926 "Midline interhemispheric variant of holoprosencephaly"
* https://www.orpha.net#93940 "Laryngotracheoesophageal cleft type 3"
* https://www.orpha.net#94066 "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"
* https://www.orpha.net#94090 "Pseudohypoparathyroidism type 2"
* https://www.orpha.net#94150 "Anonychia congenita totalis"
* https://www.orpha.net#95232 "Lissencephaly due to LIS1 mutation"
* https://www.orpha.net#95429 "Angioma serpiginosum"
* https://www.orpha.net#95474 "Double-orifice mitral valve"
* https://www.orpha.net#95713 "Athyreosis"
* https://www.orpha.net#95715 "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies"
* https://www.orpha.net#95716 "Familial thyroid dyshormonogenesis"
* https://www.orpha.net#96059 "Mosaic trisomy 4"
* https://www.orpha.net#96095 "3q26 microduplication syndrome"
* https://www.orpha.net#96173 "Ring chromosome 9 syndrome"
* https://www.orpha.net#96180 "Maternal uniparental disomy of chromosome 4"
* https://www.orpha.net#96181 "Maternal uniparental disomy of chromosome 6"
* https://www.orpha.net#96187 "Maternal uniparental disomy of chromosome 21"
* https://www.orpha.net#96190 "Paternal uniparental disomy of chromosome 5"
* https://www.orpha.net#96201 "X small rings"
* https://www.orpha.net#96253 "Cushing disease"
* https://www.orpha.net#97240 "Zebra body myopathy"
* https://www.orpha.net#97261 "GRFoma"
* https://www.orpha.net#97278 "PPoma"
* https://www.orpha.net#97280 "Glucagonoma"
* https://www.orpha.net#97283 "Somatostatinoma"
* https://www.orpha.net#97290 "Familial papillary thyroid carcinoma with renal papillary neoplasia"
* https://www.orpha.net#97338 "Melanoma of soft tissue"
* https://www.orpha.net#97352 "Pellagra"
* https://www.orpha.net#97360 "Robinow syndrome"
* https://www.orpha.net#97564 "Pauci-immune glomerulonephritis without ANCA"
* https://www.orpha.net#98673 "Autosomal dominant optic atrophy, classic form"
* https://www.orpha.net#98754 "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"
* https://www.orpha.net#98757 "Spinocerebellar ataxia type 3"
* https://www.orpha.net#98761 "Spinocerebellar ataxia type 10"
* https://www.orpha.net#98816 "Benign childhood occipital epilepsy, Gastaut type"
* https://www.orpha.net#98833 "Acute myeloblastic leukemia without maturation"
* https://www.orpha.net#98834 "Acute myeloblastic leukemia with maturation"
* https://www.orpha.net#98835 "Acute undifferentiated leukemia"
* https://www.orpha.net#98855 "Autosomal recessive Emery-Dreifuss muscular dystrophy"
* https://www.orpha.net#98856 "Charcot-Marie-Tooth disease type 2B1"
* https://www.orpha.net#98870 "Congenital dyserythropoietic anemia type III"
* https://www.orpha.net#98879 "Hemophilia B"
* https://www.orpha.net#98886 "Bleeding diathesis due to integrin alpha2-beta1 deficiency"
* https://www.orpha.net#98889 "Bilateral perisylvian polymicrogyria"
* https://www.orpha.net#98918 "Acute motor axonal neuropathy"
* https://www.orpha.net#98956 "Epithelial basement membrane dystrophy"
* https://www.orpha.net#98971 "Posterior amorphous corneal dystrophy"
* https://www.orpha.net#98977 "Juvenile glaucoma"
* https://www.orpha.net#98984 "Pulverulent cataract"
* https://www.orpha.net#98992 "Early-onset partial cataract"
* https://www.orpha.net#99027 "Adult-onset autosomal dominant leukodystrophy"
* https://www.orpha.net#99070 "Aorto-right ventricular tunnel"
* https://www.orpha.net#99071 "Aorto-left ventricular tunnel"
* https://www.orpha.net#99078 "Neuhauser anomaly"
* https://www.orpha.net#99083 "Pulmonary artery hypoplasia"
* https://www.orpha.net#99111 "Persistent left superior vena cava connecting to the roof of left-sided atrium"
* https://www.orpha.net#99117 "Coronary sinus stenosis"
* https://www.orpha.net#99119 "Right inferior vena cava connecting to left-sided atrium"
* https://www.orpha.net#99122 "Congenital stenosis of the inferior vena cava"
* https://www.orpha.net#99124 "Congenital partial pulmonary venous return anomaly"
* https://www.orpha.net#99131 "Pleuro-pericardial cyst"
* https://www.orpha.net#99169 "Epiblepharon"
* https://www.orpha.net#99176 "Congenital eyelid retraction"
* https://www.orpha.net#99330 "49,XYYYY syndrome"
* https://www.orpha.net#99701 "Mesial temporal lobe epilepsy with hippocampal sclerosis"
* https://www.orpha.net#99731 "Isolated sulfite oxidase deficiency"
* https://www.orpha.net#99791 "Dentin dysplasia type II"
* https://www.orpha.net#99798 "Oligodontia"
* https://www.orpha.net#99807 "PEHO-like syndrome"
* https://www.orpha.net#99825 "Nipah virus disease"
* https://www.orpha.net#99846 "Autosomal dominant myoglobinuria"
* https://www.orpha.net#99852 "Ravine syndrome"
* https://www.orpha.net#99856 "Primary syringomyelia"
* https://www.orpha.net#99858 "Idiopathic syringomyelia"
* https://www.orpha.net#99861 "Precursor T-cell acute lymphoblastic leukemia"
* https://www.orpha.net#99886 "Transient neonatal diabetes mellitus"
* https://www.orpha.net#99887 "Acute megakaryoblastic leukemia in Down syndrome"
* https://www.orpha.net#99906 "Farmer's lung disease"
* https://www.orpha.net#99919 "Staphylococcal toxic-shock syndrome"
* https://www.orpha.net#99922 "Ocular cicatricial pemphigoid"
* https://www.orpha.net#99927 "Hydatidiform mole"
* https://www.orpha.net#99933 "Pleuropulmonary blastoma type 1"
* https://www.orpha.net#99943 "Autosomal dominant Charcot-Marie-Tooth disease type 2J"
* https://www.orpha.net#99960 "Benign recurrent intrahepatic cholestasis type 1"
* https://www.orpha.net#99966 "Atypical teratoid rhabdoid tumor"
* https://www.orpha.net#99977 "Squamous cell carcinoma of the esophagus"
* https://www.orpha.net#99981 "Apnea of prematurity"
* https://www.orpha.net#99994 "Complex regional pain syndrome type 2"
* https://www.orpha.net#100031 "Hypoplastic amelogenesis imperfecta"
* https://www.orpha.net#100043 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A"
* https://www.orpha.net#100044 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B"
* https://www.orpha.net#100069 "Semantic dementia"
* https://www.orpha.net#100083 "Laryngeal neuroendocrine tumor"
* https://www.orpha.net#100976 "Bathing suit ichthyosis"
* https://www.orpha.net#100995 "Autosomal recessive spastic paraplegia type 14"
* https://www.orpha.net#100999 "Autosomal dominant spastic paraplegia type 19"
* https://www.orpha.net#101000 "Autosomal recessive spastic paraplegia type 20"
* https://www.orpha.net#101029 "Sub-cortical nodular heterotopia"
* https://www.orpha.net#101039 "Female restricted epilepsy with intellectual disability"
* https://www.orpha.net#101351 "Familial isolated congenital asplenia"
* https://www.orpha.net#101932 "Anomaly of the mitral subvalvular apparatus"
* https://www.orpha.net#137622 "Intractable diarrhea-choanal atresia-eye anomalies syndrome"
* https://www.orpha.net#137754 "Neurological conditions associated with aminoacylase 1 deficiency"
* https://www.orpha.net#137932 "Congenital laryngeal palsy"
* https://www.orpha.net#139396 "X-linked cerebral adrenoleukodystrophy"
* https://www.orpha.net#139399 "Adrenomyeloneuropathy"
* https://www.orpha.net#139447 "Progressive cavitating leukoencephalopathy"
* https://www.orpha.net#139507 "Dietary iron overload disease"
* https://www.orpha.net#139512 "Neuropathy with hearing impairment"
* https://www.orpha.net#139525 "Distal hereditary motor neuropathy type 2"
* https://www.orpha.net#140896 "Severe acute respiratory syndrome"
* https://www.orpha.net#140949 "Low-flow priapism"
* https://www.orpha.net#140969 "Saldino-Mainzer syndrome"
* https://www.orpha.net#141030 "Third branchial cleft anomaly"
* https://www.orpha.net#141061 "Commissural lip fistula"
* https://www.orpha.net#141091 "Polyrrhinia"
* https://www.orpha.net#155889 "Coloboma of inferior eyelid"
* https://www.orpha.net#158684 "Epidermolysis bullosa simplex with pyloric atresia"
* https://www.orpha.net#158778 "Isolated bone marrow mastocytosis"
* https://www.orpha.net#163654 "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome"
* https://www.orpha.net#163668 "Spondyloepiphyseal dysplasia, MacDermot type"
* https://www.orpha.net#163684 "Leukoencephalopathy-dystonia-motor neuropathy syndrome"
* https://www.orpha.net#163693 "2p21 microdeletion syndrome"
* https://www.orpha.net#163921 "Posttransplant acute limbic encephalitis"
* https://www.orpha.net#163966 "X-linked dominant chondrodysplasia, Chassaing-Lacombe type"
* https://www.orpha.net#163979 "X-linked intellectual disability-craniofacioskeletal syndrome"
* https://www.orpha.net#165805 "Familial mesial temporal lobe epilepsy with febrile seizures"
* https://www.orpha.net#166011 "Multiple epiphyseal dysplasia, Beighton type"
* https://www.orpha.net#166078 "Von Willebrand disease type 1"
* https://www.orpha.net#166096 "Von Willebrand disease type 3"
* https://www.orpha.net#166265 "Dentinogenesis imperfecta type 3"
* https://www.orpha.net#166409 "Photosensitive epilepsy"
* https://www.orpha.net#166412 "Hot water reflex epilepsy"
* https://www.orpha.net#166433 "Reading seizures"
* https://www.orpha.net#168552 "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"
* https://www.orpha.net#168555 "Spondylometaphyseal dysplasia, A4 type"
* https://www.orpha.net#168572 "Native American myopathy"
* https://www.orpha.net#168593 "Sudden infant death-dysgenesis of the testes syndrome"
* https://www.orpha.net#168811 "Malignant peritoneal mesothelioma"
* https://www.orpha.net#168999 "Malignant melanoma of the mucosa"
* https://www.orpha.net#169079 "Cernunnos-XLF deficiency"
* https://www.orpha.net#169090 "Combined immunodeficiency due to CRAC channel dysfunction"
* https://www.orpha.net#169100 "Immunodeficiency due to CD25 deficiency"
* https://www.orpha.net#169154 "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"
* https://www.orpha.net#169464 "Primary CD59 deficiency"
* https://www.orpha.net#171617 "Autosomal dominant spastic paraplegia type 38"
* https://www.orpha.net#171703 "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"
* https://www.orpha.net#177910 "Prader-Willi syndrome due to imprinting mutation"
* https://www.orpha.net#177926 "Bleeding disorder in hemophilia A carriers"
* https://www.orpha.net#178333 "Åland Islands eye disease"
* https://www.orpha.net#178338 "UV-sensitive syndrome"
* https://www.orpha.net#178469 "Autosomal dominant non-syndromic intellectual disability"
* https://www.orpha.net#178475 "Wound botulism"
* https://www.orpha.net#178528 "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma"
* https://www.orpha.net#178536 "Primary cutaneous marginal zone B-cell lymphoma"
* https://www.orpha.net#180182 "Supernumerary breasts"
* https://www.orpha.net#180188 "Isolated congenital breast hypoplasia/aplasia"
* https://www.orpha.net#183678 "Hermansky-Pudlak syndrome due to AP-3 deficiency"
* https://www.orpha.net#199260 "Calcifying aponeurotic fibroma"
* https://www.orpha.net#199276 "Familial multiple lipomatosis"
* https://www.orpha.net#199306 "Cleft lip/palate"
* https://www.orpha.net#199310 "Tetragametic chimerism"
* https://www.orpha.net#199326 "Isolated autosomal dominant hypomagnesemia, Glaudemans type"
* https://www.orpha.net#199337 "Pancreatic insufficiency-anemia-hyperostosis syndrome"
* https://www.orpha.net#199348 "Thiamine-responsive encephalopathy"
* https://www.orpha.net#206484 "Gonadoblastoma"
* https://www.orpha.net#206538 "Malignant non-dysgerminomatous germ cell tumor of ovary"
* https://www.orpha.net#206559 "POMT2-related limb-girdle muscular dystrophy R14"
* https://www.orpha.net#206569 "Immune-mediated necrotizing myopathy"
* https://www.orpha.net#206594 "Subacute inflammatory demyelinating polyneuropathy"
* https://www.orpha.net#208989 "Non-paraneoplastic sensory ganglionopathy"
* https://www.orpha.net#209919 "Idiopathic copper-associated cirrhosis"
* https://www.orpha.net#209943 "IRVAN syndrome"
* https://www.orpha.net#209964 "Solitary rectal ulcer syndrome"
* https://www.orpha.net#209981 "IRIDA syndrome"
* https://www.orpha.net#210110 "Intermediate osteopetrosis"
* https://www.orpha.net#211017 "Spinocerebellar ataxia type 30"
* https://www.orpha.net#211067 "Episodic ataxia type 5"
* https://www.orpha.net#213605 "Carcinofibroma of the corpus uteri"
* https://www.orpha.net#213630 "Primitive neuroectodermal tumor of the corpus uteri"
* https://www.orpha.net#213787 "Carcinosarcoma of the cervix uteri"
* https://www.orpha.net#213807 "Leiomyosarcoma of the cervix uteri"
* https://www.orpha.net#213812 "Primitive neuroectodermal tumor of the cervix uteri"
* https://www.orpha.net#213828 "Adenoid basal carcinoma of the cervix uteri"
* https://www.orpha.net#216804 "Osteogenesis imperfecta type 2"
* https://www.orpha.net#216873 "Atypical pantothenate kinase-associated neurodegeneration"
* https://www.orpha.net#216978 "Niemann-Pick disease type C, late infantile neurologic onset"
* https://www.orpha.net#217253 "NMDA receptor encephalitis"
* https://www.orpha.net#217346 "19q13.11 microdeletion syndrome"
* https://www.orpha.net#217656 "Familial isolated arrhythmogenic right ventricular dysplasia"
* https://www.orpha.net#220407 "Limited systemic sclerosis"
* https://www.orpha.net#221083 "Hemifacial spasm"
* https://www.orpha.net#221117 "Gerstmann syndrome"
* https://www.orpha.net#226313 "Congenital hypothyroidism due to maternal intake of antithyroid drugs"
* https://www.orpha.net#228000 "Idiopathic CD4 lymphocytopenia"
* https://www.orpha.net#228272 "Primary anetoderma"
* https://www.orpha.net#228329 "CLN1 disease"
* https://www.orpha.net#228387 "Spondylo-megaepiphyseal-metaphyseal dysplasia"
* https://www.orpha.net#231013 "Congenital trigeminal anesthesia"
* https://www.orpha.net#231130 "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"
* https://www.orpha.net#231154 "Combined immunodeficiency due to partial RAG1 deficiency"
* https://www.orpha.net#231632 "Ectopic aldosterone-producing tumor"
* https://www.orpha.net#231671 "Isolated growth hormone deficiency type IB"
* https://www.orpha.net#238642 "Primary megaureter, adult-onset form"
* https://www.orpha.net#238646 "Congenital primary megaureter, obstructed form"
* https://www.orpha.net#244283 "Biliary atresia with splenic malformation syndrome"
* https://www.orpha.net#247676 "Adult hypophosphatasia"
* https://www.orpha.net#251061 "7q31 microdeletion syndrome"
* https://www.orpha.net#251332 "Unexplained long-lasting fever/inflammatory syndrome"
* https://www.orpha.net#251347 "Ataxia-telangiectasia-like disorder"
* https://www.orpha.net#251643 "Myxopapillary ependymoma"
* https://www.orpha.net#251671 "Angiocentric glioma"
* https://www.orpha.net#251858 "Medulloblastoma with extensive nodularity"
* https://www.orpha.net#251880 "Ependymoblastoma"
* https://www.orpha.net#251909 "Pineoblastoma"
* https://www.orpha.net#252018 "Teratoma of the central nervous system"
* https://www.orpha.net#254346 "19p13.12 microdeletion syndrome"
* https://www.orpha.net#254531 "Temple syndrome due to paternal 14q32.2 hypomethylation"
* https://www.orpha.net#254688 "Complete hydatidiform mole"
* https://www.orpha.net#254875 "Mitochondrial DNA depletion syndrome, myopathic form"
* https://www.orpha.net#261265 "17q12 microdeletion syndrome"
* https://www.orpha.net#261272 "17q12 microduplication syndrome"
* https://www.orpha.net#261600 "Alagille syndrome due to 20p12 microdeletion"
* https://www.orpha.net#263413 "Angiosarcoma"
* https://www.orpha.net#263524 "Acute necrotizing encephalopathy of childhood"
* https://www.orpha.net#263548 "Peeling skin syndrome type A"
* https://www.orpha.net#263553 "Peeling skin syndrome type B"
* https://www.orpha.net#264978 "Drug or radiation exposure-related interstitial lung disease"
* https://www.orpha.net#268114 "RAS-associated autoimmune leukoproliferative disease"
* https://www.orpha.net#268139 "Intraocular medulloepithelioma"
* https://www.orpha.net#268249 "Mycophenolate mofetil embryopathy"
* https://www.orpha.net#268861 "Primary tethered cord syndrome"
* https://www.orpha.net#268865 "Neurenteric cyst"
* https://www.orpha.net#268980 "Isolated focal cortical dysplasia type Ib"
* https://www.orpha.net#269218 "Isolated unilateral hemispheric cerebellar hypoplasia"
* https://www.orpha.net#275761 "Lysosomal acid lipase deficiency"
* https://www.orpha.net#275766 "Idiopathic pulmonary arterial hypertension"
* https://www.orpha.net#276152 "Multiple endocrine neoplasia type 4"
* https://www.orpha.net#276405 "Hyperbiliverdinemia"
* https://www.orpha.net#276575 "Autosomal dominant hyperinsulinism due to SUR1 deficiency"
* https://www.orpha.net#279894 "Toxic maculopathy due to antimalarial drugs"
* https://www.orpha.net#279914 "Intermediate uveitis"
* https://www.orpha.net#280333 "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16"
* https://www.orpha.net#280356 "PLIN1-related familial partial lipodystrophy"
* https://www.orpha.net#280379 "Erythropoietic uroporphyria associated with myeloid malignancy"
* https://www.orpha.net#280615 "Hemoglobinopathy Toms River"
* https://www.orpha.net#280832 "Congenital pulmonary airway malformation type 1"
* https://www.orpha.net#281127 "Acral self-healing collodion baby"
* https://www.orpha.net#284362 "Fetal lung interstitial tumor"
* https://www.orpha.net#289307 "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency"
* https://www.orpha.net#289513 "12q15q21.1 microdeletion syndrome"
* https://www.orpha.net#289661 "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly"
* https://www.orpha.net#289849 "Glutathione synthetase deficiency without 5-oxoprolinuria"
* https://www.orpha.net#289863 "Atypical glycine encephalopathy"
* https://www.orpha.net#289891 "Hypermethioninemia due to glycine N-methyltransferase deficiency"
* https://www.orpha.net#293144 "Familial clubfoot due to 5q31 microdeletion"
* https://www.orpha.net#293173 "Acute generalized exanthematous pustulosis"
* https://www.orpha.net#293181 "Malignant migrating focal seizures of infancy"
* https://www.orpha.net#293199 "Pleomorphic rhabdomyosarcoma"
* https://www.orpha.net#293725 "Blepharophimosis-intellectual disability syndrome, Verloes type"
* https://www.orpha.net#293825 "Congenital dyserythropoietic anemia type IV"
* https://www.orpha.net#293925 "Lethal occipital encephalocele-skeletal dysplasia syndrome"
* https://www.orpha.net#293939 "Distal Xq28 microduplication syndrome"
* https://www.orpha.net#293948 "1p21.3 microdeletion syndrome"
* https://www.orpha.net#293955 "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"
* https://www.orpha.net#294415 "Renal-hepatic-pancreatic dysplasia"
* https://www.orpha.net#294967 "Amelia of upper limb"
* https://www.orpha.net#294975 "Congenital absence of upper arm and forearm with hand present"
* https://www.orpha.net#295018 "Congenital pseudoarthrosis of the tibia"
* https://www.orpha.net#295028 "Tibio-fibular synostosis"
* https://www.orpha.net#295034 "Congenital knee dislocation"
* https://www.orpha.net#295047 "Macrodactyly of toes"
* https://www.orpha.net#295189 "Zygodactyly type 2"
* https://www.orpha.net#295195 "Synpolydactyly type 1"
* https://www.orpha.net#300359 "PLCG2-associated antibody deficiency and immune dysregulation"
* https://www.orpha.net#300751 "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"
* https://www.orpha.net#306558 "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"
* https://www.orpha.net#306577 "Sodium channelopathy-related small fiber neuropathy"
* https://www.orpha.net#306741 "Hemidystonia-hemiatrophy syndrome"
* https://www.orpha.net#308442 "Vitamin B12-responsive methylmalonic acidemia, type cblDv2"
* https://www.orpha.net#308712 "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form"
* https://www.orpha.net#309111 "Combined pancreatic lipase-colipase deficiency"
* https://www.orpha.net#309147 "Hyper-beta-alaninemia"
* https://www.orpha.net#313920 "Epstein-Barr virus-associated gastric carcinoma"
* https://www.orpha.net#314485 "Young adult-onset distal hereditary motor neuropathy"
* https://www.orpha.net#314575 "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome"
* https://www.orpha.net#314588 "Distal triplication 15q"
* https://www.orpha.net#314632 "ATP13A2-related juvenile neuronal ceroid lipofuscinosis"
* https://www.orpha.net#314697 "Acquired porencephaly"
* https://www.orpha.net#319287 "Multilocular cystic renal neoplasm of low malignant potential"
* https://www.orpha.net#319298 "Papillary renal cell carcinoma"
* https://www.orpha.net#319308 "MiT family translocation renal cell carcinoma"
* https://www.orpha.net#319589 "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"
* https://www.orpha.net#320360 "MT-ATP6-related mitochondrial spastic paraplegia"
* https://www.orpha.net#320365 "Autosomal dominant spastic paraplegia type 36"
* https://www.orpha.net#320391 "Autosomal recessive spastic paraplegia type 46"
* https://www.orpha.net#324313 "9p13 microdeletion syndrome"
* https://www.orpha.net#324321 "Sinoatrial node dysfunction and deafness"
* https://www.orpha.net#324636 "Autoerythrocyte sensitization syndrome"
* https://www.orpha.net#329249 "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"
* https://www.orpha.net#352530 "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"
* https://www.orpha.net#352636 "Phalangeal microgeodic syndrome"
* https://www.orpha.net#352654 "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"
* https://www.orpha.net#353314 "Pyruvate carboxylase deficiency, severe neonatal type"
* https://www.orpha.net#356961 "SLC35A2-CDG"
* https://www.orpha.net#357008 "Hemolytic uremic syndrome with DGKE deficiency"
* https://www.orpha.net#357107 "Arterial thoracic outlet syndrome"
* https://www.orpha.net#357131 "Venous thoracic outlet syndrome"
* https://www.orpha.net#357158 "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome"
* https://www.orpha.net#357175 "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome"
* https://www.orpha.net#357329 "Combined immunodeficiency due to IL21R deficiency"
* https://www.orpha.net#363989 "Familial benign flecked retina"
* https://www.orpha.net#364055 "Severe early-childhood-onset retinal dystrophy"
* https://www.orpha.net#369837 "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome"
* https://www.orpha.net#369939 "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"
* https://www.orpha.net#370022 "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome"
* https://www.orpha.net#370026 "Acute myeloid leukemia with t(8;16)(p11;p13) translocation"
* https://www.orpha.net#370059 "NEVADA syndrome"
* https://www.orpha.net#370103 "Primary dystonia, DYT17 type"
* https://www.orpha.net#370921 "STT3A-CDG"
* https://www.orpha.net#370997 "Muscle-eye-brain disease with bilateral multicystic leucodystrophy"
* https://www.orpha.net#391408 "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"
* https://www.orpha.net#391417 "HSD10 disease"
* https://www.orpha.net#391457 "HSD10 disease, neonatal type"
* https://www.orpha.net#391487 "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"
* https://www.orpha.net#391646 "Feingold syndrome type 2"
* https://www.orpha.net#397623 "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"
* https://www.orpha.net#397927 "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"
* https://www.orpha.net#397968 "Charcot-Marie-Tooth disease type 2R"
* https://www.orpha.net#398166 "Focal facial dermal dysplasia"
* https://www.orpha.net#398173 "Focal facial dermal dysplasia type II"
* https://www.orpha.net#398189 "Focal facial dermal dysplasia type IV"
* https://www.orpha.net#398971 "Clear cell adenocarcinoma of the ovary"
* https://www.orpha.net#399180 "Secondary non-traumatic avascular necrosis"
* https://www.orpha.net#401785 "Autosomal recessive spastic paraplegia type 62"
* https://www.orpha.net#401805 "Autosomal recessive spastic paraplegia type 63"
* https://www.orpha.net#401815 "Autosomal recessive spastic paraplegia type 66"
* https://www.orpha.net#401835 "Autosomal recessive spastic paraplegia type 70"
* https://www.orpha.net#401859 "Lipoic acid synthetase deficiency"
* https://www.orpha.net#401874 "Multiple mitochondrial dysfunctions syndrome type 2"
* https://www.orpha.net#402020 "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"
* https://www.orpha.net#402082 "Progressive myoclonic epilepsy type 5"
* https://www.orpha.net#404454 "Alacrimia-choreoathetosis-liver dysfunction syndrome"
* https://www.orpha.net#404473 "Severe intellectual disability-progressive spastic diplegia syndrome"
* https://www.orpha.net#404507 "Chondromyxoid fibroma"
* https://www.orpha.net#404514 "Acquired cystic disease-associated renal cell carcinoma"
* https://www.orpha.net#404560 "Familial atypical multiple mole melanoma syndrome"
* https://www.orpha.net#411511 "Angelman syndrome due to a point mutation"
* https://www.orpha.net#411703 "Pulmonary non-tuberculous mycobacterial infection"
* https://www.orpha.net#412069 "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome"
* https://www.orpha.net#420259 "Secondary pulmonary alveolar proteinosis"
* https://www.orpha.net#420789 "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea"
* https://www.orpha.net#423454 "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"
* https://www.orpha.net#423479 "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome"
* https://www.orpha.net#424065 "Solid pseudopapillary carcinoma of pancreas"
* https://www.orpha.net#435660 "LIPE-related familial partial lipodystrophy"
* https://www.orpha.net#436159 "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"
* https://www.orpha.net#436174 "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"
* https://www.orpha.net#437552 "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"
* https://www.orpha.net#438213 "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"
* https://www.orpha.net#438274 "GCGR-related hyperglucagonemia"
* https://www.orpha.net#439167 "Placental insufficiency"
* https://www.orpha.net#439254 "ITM2B amyloidosis"
* https://www.orpha.net#440354 "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"
* https://www.orpha.net#440727 "Combined hamartoma of the retina and retinal pigment epithelium"
* https://www.orpha.net#440987 "Isolated agenesis of gallbladder"
* https://www.orpha.net#443070 "Hemicrania continua"
* https://www.orpha.net#444077 "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"
* https://www.orpha.net#447737 "DOCK2 deficiency"
* https://www.orpha.net#447788 "Cerebral visual impairment"
* https://www.orpha.net#447896 "Tremor-ataxia-central hypomyelination syndrome"
* https://www.orpha.net#448264 "Isolated focal non-epidermolytic palmoplantar keratoderma"
* https://www.orpha.net#449291 "Symptomatic form of fragile X syndrome in female carriers"
* https://www.orpha.net#449427 "IgG4-related pachymeningitis"
* https://www.orpha.net#453499 "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome"
* https://www.orpha.net#454714 "Plasma cell leukemia"
* https://www.orpha.net#8 "47,XYY syndrome"
* https://www.orpha.net#40 "Acromesomelic dysplasia, Maroteaux type"
* https://www.orpha.net#60 "Alpha-1-antitrypsin deficiency"
* https://www.orpha.net#62 "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3"
* https://www.orpha.net#68 "Amoebiasis due to free-living amoebae"
* https://www.orpha.net#86 "Familial abdominal aortic aneurysm"
* https://www.orpha.net#104 "Leber hereditary optic neuropathy"
* https://www.orpha.net#130 "Brugada syndrome"
* https://www.orpha.net#134 "Beta-ketothiolase deficiency"
* https://www.orpha.net#456312 "Infantile multisystem neurologic-endocrine-pancreatic disease"
* https://www.orpha.net#457088 "Predisposition to invasive fungal disease due to CARD9 deficiency"
* https://www.orpha.net#457185 "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"
* https://www.orpha.net#457351 "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"
* https://www.orpha.net#457365 "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome"
* https://www.orpha.net#458768 "Primary intralymphatic angioendothelioma"
* https://www.orpha.net#458803 "Spinocerebellar ataxia type 42"
* https://www.orpha.net#464366 "NEK9-related lethal skeletal dysplasia"
* https://www.orpha.net#464440 "Primary dystonia, DYT27 type"
* https://www.orpha.net#466791 "Macrocephaly-intellectual disability-left ventricular non compaction syndrome"
* https://www.orpha.net#476096 "Erythrokeratodermia-cardiomyopathy syndrome"
* https://www.orpha.net#476394 "PMP2-related Charcot-Marie-Tooth disease type 1"
* https://www.orpha.net#477661 "IL21-related infantile inflammatory bowel disease"
* https://www.orpha.net#477742 "Nodular fasciitis"
* https://www.orpha.net#477857 "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"
* https://www.orpha.net#478042 "Combined oxidative phosphorylation defect type 30"
* https://www.orpha.net#478049 "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"
* https://www.orpha.net#480531 "Congenital portosystemic shunt"
* https://www.orpha.net#481662 "Familial Chilblain lupus"
* https://www.orpha.net#481665 "USP18 deficiency"
* https://www.orpha.net#481986 "Familial schizencephaly"
* https://www.orpha.net#485405 "16p12.1p12.3 triplication syndrome"
* https://www.orpha.net#487796 "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"
* https://www.orpha.net#488642 "TELO2-related intellectual disability-neurodevelopmental disorder"
* https://www.orpha.net#494421 "Sacrococcygeal teratoma"
* https://www.orpha.net#494444 "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"
* https://www.orpha.net#494541 "Childhood-onset benign chorea with striatal involvement"
* https://www.orpha.net#495818 "9q33.3q34.11 microdeletion syndrome"
* https://www.orpha.net#498485 "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"
* https://www.orpha.net#499107 "Idiopathic optic perineuritis"
* https://www.orpha.net#500166 "SIN3A-related intellectual disability syndrome due to a point mutation"
* https://www.orpha.net#500481 "Squamous cell carcinoma of salivary glands"
* https://www.orpha.net#500548 "Osteosclerotic metaphyseal dysplasia"
* https://www.orpha.net#506136 "Neuroendocrine neoplasm of esophagus"
* https://www.orpha.net#508529 "Intermediate epidermolysis bullosa simplex with cardiomyopathy"
* https://www.orpha.net#508542 "Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome"
* https://www.orpha.net#512103 "Autosomal recessive epidermolytic ichthyosis"
* https://www.orpha.net#519384 "Congenital cystic eye"
* https://www.orpha.net#519392 "Isolated iridoschisis"
* https://www.orpha.net#521127 "Osteoradionecrosis of the mandible"
* https://www.orpha.net#521390 "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome"
* https://www.orpha.net#528105 "Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome"
* https://www.orpha.net#529574 "Duane retraction syndrome with congenital deafness"
* https://www.orpha.net#536545 "Kyphoscoliotic Ehlers-Danlos syndrome"
* https://www.orpha.net#541443 "Anomalous aortic origin of the left coronary artery"
* https://www.orpha.net#541454 "Anomalous aortic origin of the right coronary artery"
* https://www.orpha.net#541507 "Anomalous origin of coronary artery from the pulmonary artery"
* https://www.orpha.net#542323 "CAR T cell therapy-associated cytokine release syndrome"
* https://www.orpha.net#544254 "SYNGAP1-related developmental and epileptic encephalopathy"
* https://www.orpha.net#555437 "Lymphoplasmacytic inflammatory pseudotumor of the liver"
* https://www.orpha.net#555874 "Congenital tricuspid valve dysplasia"
* https://www.orpha.net#146 "Differentiated thyroid carcinoma"
* https://www.orpha.net#163 "Hereditary hyperferritinemia-cataract syndrome"
* https://www.orpha.net#167 "Chédiak-Higashi syndrome"
* https://www.orpha.net#171 "Primary sclerosing cholangitis"
* https://www.orpha.net#177 "Rhizomelic chondrodysplasia punctata"
* https://www.orpha.net#181 "X-linked hypohidrotic ectodermal dysplasia"
* https://www.orpha.net#182 "Chromomycosis"
* https://www.orpha.net#214 "Cystinuria"
* https://www.orpha.net#217 "Isolated Dandy-Walker malformation"
* https://www.orpha.net#219 "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6"
* https://www.orpha.net#220 "Denys-Drash syndrome"
* https://www.orpha.net#223 "Nephrogenic diabetes insipidus"
* https://www.orpha.net#225 "Maternally-inherited diabetes and deafness"
* https://www.orpha.net#239 "Dyggve-Melchior-Clausen disease"
* https://www.orpha.net#242 "46,XY complete gonadal dysgenesis"
* https://www.orpha.net#322 "Exstrophy-epispadias complex"
* https://www.orpha.net#333 "Farber disease"
* https://www.orpha.net#340 "Hemorrhagic fever-renal syndrome"
* https://www.orpha.net#361 "Familial glucocorticoid deficiency"
* https://www.orpha.net#379 "Chronic granulomatous disease"
* https://www.orpha.net#393 "46,XX testicular difference of sex development"
* https://www.orpha.net#395 "Homocystinuria due to methylene tetrahydrofolate reductase deficiency"
* https://www.orpha.net#409 "Hyperkeratosis lenticularis perstans"
* https://www.orpha.net#432 "Normosmic congenital hypogonadotropic hypogonadism"
* https://www.orpha.net#436 "Hypophosphatasia"
* https://www.orpha.net#466 "Fatal familial insomnia"
* https://www.orpha.net#477 "KID syndrome"
* https://www.orpha.net#481 "Kennedy disease"
* https://www.orpha.net#483 "Congenital high-molecular-weight kininogen deficiency"
* https://www.orpha.net#503 "Larsen syndrome"
* https://www.orpha.net#508 "Leprechaunism"
* https://www.orpha.net#543 "Burkitt lymphoma"
* https://www.orpha.net#562 "McCune-Albright syndrome"
* https://www.orpha.net#567 "22q11.2 deletion syndrome"
* https://www.orpha.net#579 "Mucopolysaccharidosis type 1"
* https://www.orpha.net#586 "Cystic fibrosis"
* https://www.orpha.net#632 "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"
* https://www.orpha.net#655 "Nephronophthisis"
* https://www.orpha.net#663 "Mitochondrial DNA-related progressive external ophthalmoplegia"
* https://www.orpha.net#703 "Bullous pemphigoid"
* https://www.orpha.net#721 "Gray platelet syndrome"
* https://www.orpha.net#722 "Hypoplasminogenemia"
* https://www.orpha.net#724 "Idiopathic acute eosinophilic pneumonia"
* https://www.orpha.net#737 "Porokeratosis plantaris palmaris et disseminata"
* https://www.orpha.net#739 "Prader-Willi syndrome"
* https://www.orpha.net#565641 "Primary desmosis coli"
* https://www.orpha.net#565782 "Methotrexate toxicity"
* https://www.orpha.net#566067 "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome"
* https://www.orpha.net#566943 "Mueller-Weiss syndrome"
* https://www.orpha.net#568056 "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome"
* https://www.orpha.net#572333 "Blepharophimosis-ptosis-epicanthus inversus syndrome plus"
* https://www.orpha.net#572361 "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2"
* https://www.orpha.net#572543 "RFVT2-related riboflavin transporter deficiency"
* https://www.orpha.net#572761 "DONSON-related microcephaly-short stature-limb abnormalities spectrum"
* https://www.orpha.net#575553 "Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"
* https://www.orpha.net#576283 "SATB2-associated syndrome due to a pathogenic variant"
* https://www.orpha.net#583595 "Serine biosynthesis pathway deficiency, infantile/juvenile form"
* https://www.orpha.net#589821 "Congenital-onset Steinert myotonic dystrophy"
* https://www.orpha.net#592564 "GNAO1-related developmental delay-seizures-movement disorder spectrum"
* https://www.orpha.net#595133 "Perivascular epithelioid cell neoplasm"
* https://www.orpha.net#597887 "ALPI-related inflammatory bowel disease"
* https://www.orpha.net#598216 "Upper tract urothelial carcinoma"
* https://www.orpha.net#599485 "Acquired hemophilia B"
* https://www.orpha.net#600952 "Non-syndromic anorectal malformation with perineal fistula"
* https://www.orpha.net#611201 "Oculogastrointestinal-neurodevelopmental syndrome"
* https://www.orpha.net#611256 "Pontocerebellar hypoplasia type 12"
* https://www.orpha.net#617919 "F12-associated cold autoinflammatory syndrome"
* https://www.orpha.net#619979 "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"
* https://www.orpha.net#620178 "Non-syndromic bilambdoid craniosynostosis"
* https://www.orpha.net#623615 "Autoimmune limbic encephalitis"
* https://www.orpha.net#633028 "CPE-related Prader-Willi-like syndrome"
* https://www.orpha.net#633228 "Proximal femoral focal deficiency"
* https://www.orpha.net#634492 "Mosaic schwannomatosis"
* https://www.orpha.net#636941 "Vascular Ehlers-Danlos-polymicrogyria syndrome"
* https://www.orpha.net#636945 "Invasive Candidiasis"
* https://www.orpha.net#636970 "Autosomal recessive myosin storage myopathy"
* https://www.orpha.net#637051 "Borna virus encephalitis"
* https://www.orpha.net#641390 "PsAPASH syndrome"
* https://www.orpha.net#645297 "Extramedullary conus spinal cord lipoma"
* https://www.orpha.net#645300 "Lipomatous non-saccular limited dorsal myeloschisis"
* https://www.orpha.net#645613 "Classical dermatomyositis"
* https://www.orpha.net#645814 "Primary pulmonary tuberculosis"
* https://www.orpha.net#645874 "Primary genito-urinary tuberculosis"
* https://www.orpha.net#647676 "Multiple epiphyseal dysplasia type 7"
* https://www.orpha.net#647834 "SLC40A1-related hemochromatosis"
* https://www.orpha.net#648992 "Non-syndromic bridging bronchus"
* https://www.orpha.net#783 "Rubinstein-Taybi syndrome"
* https://www.orpha.net#785 "Estrogen resistance syndrome"
* https://www.orpha.net#796 "Sandhoff disease"
* https://www.orpha.net#799 "Schizencephaly"
* https://www.orpha.net#800 "Schwartz-Jampel syndrome"
* https://www.orpha.net#805 "Tuberous sclerosis complex"
* https://www.orpha.net#809 "Mixed connective tissue disease"
* https://www.orpha.net#813 "Silver-Russell syndrome"
* https://www.orpha.net#824 "Primary myelofibrosis"
* https://www.orpha.net#827 "Stargardt disease"
* https://www.orpha.net#832 "Succinyl-CoA:3-oxoacid CoA transferase deficiency"
* https://www.orpha.net#863 "Trichinellosis"
* https://www.orpha.net#868 "Triose phosphate-isomerase deficiency"
* https://www.orpha.net#870 "Down syndrome"
* https://www.orpha.net#886 "Usher syndrome"
* https://www.orpha.net#890 "Hepatic veno-occlusive disease"
* https://www.orpha.net#893 "WAGR syndrome"
* https://www.orpha.net#898 "Wagner disease"
* https://www.orpha.net#911 "Combined immunodeficiency due to ZAP70 deficiency"
* https://www.orpha.net#921 "Abruzzo-Erickson syndrome"
* https://www.orpha.net#945 "Acalvaria"
* https://www.orpha.net#968 "Acromesomelic dysplasia, Hunter-Thompson type"
* https://www.orpha.net#971 "Acrorenal syndrome"
* https://www.orpha.net#983 "Testicular regression syndrome"
* https://www.orpha.net#1021 "Amaurosis-hypertrichosis syndrome"
* https://www.orpha.net#1040 "Metaphyseal anadysplasia"
* https://www.orpha.net#1054 "Aneurysm of sinus of Valsalva"
* https://www.orpha.net#1055 "Congenital left ventricular aneurysm"
* https://www.orpha.net#1067 "Aniridia-ptosis-intellectual disability-familial obesity syndrome"
* https://www.orpha.net#1077 "Dental ankylosis"
* https://www.orpha.net#1110 "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome"
* https://www.orpha.net#1122 "Ulnar hypoplasia-split foot syndrome"
* https://www.orpha.net#1145 "Infantile-onset X-linked spinal muscular atrophy"
* https://www.orpha.net#1149 "Kuskokwim syndrome"
* https://www.orpha.net#1150 "Arthrogryposis multiplex congenita-whistling face syndrome"
* https://www.orpha.net#1170 "Autosomal recessive cerebelloparenchymal disorder type 3"
* https://www.orpha.net#1182 "Spastic ataxia with congenital miosis"
* https://www.orpha.net#1195 "Congenital atransferrinemia"
* https://www.orpha.net#1198 "Colonic atresia"
* https://www.orpha.net#1199 "Esophageal atresia"
* https://www.orpha.net#1200 "Burn-McKeown syndrome"
* https://www.orpha.net#1205 "Mitral atresia"
* https://www.orpha.net#1221 "Cheilitis glandularis"
* https://www.orpha.net#1225 "Baller-Gerold syndrome"
* https://www.orpha.net#1237 "Beemer-Ertbruggen syndrome"
* https://www.orpha.net#1261 "Bonnemann-Meinecke-Reich syndrome"
* https://www.orpha.net#1327 "Camptodactyly syndrome, Guadalajara type 1"
* https://www.orpha.net#1330 "Partial atrioventricular septal defect"
* https://www.orpha.net#1331 "Familial prostate cancer"
* https://www.orpha.net#1333 "Familial pancreatic carcinoma"
* https://www.orpha.net#1342 "Heart-hand syndrome type 3"
* https://www.orpha.net#1352 "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome"
* https://www.orpha.net#1361 "Carnosinase deficiency"
* https://www.orpha.net#1369 "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"
* https://www.orpha.net#1388 "Catel-Manzke syndrome"
* https://www.orpha.net#1393 "Cerebrocostomandibular syndrome"
* https://www.orpha.net#1397 "Hydrocephaly-cerebellar agenesis syndrome"
* https://www.orpha.net#1398 "Isolated cerebellar agenesis"
* https://www.orpha.net#1399 "Richards-Rundle syndrome"
* https://www.orpha.net#1401 "CHAND syndrome"
* https://www.orpha.net#1415 "Cholestasis-pigmentary retinopathy-cleft palate syndrome"
* https://www.orpha.net#1422 "Chondrodysplasia-difference of sex development syndrome"
* https://www.orpha.net#1438 "Ring chromosome 10 syndrome"
* https://www.orpha.net#1440 "Ring chromosome 14 syndrome"
* https://www.orpha.net#1442 "Ring chromosome 18 syndrome"
* https://www.orpha.net#1447 "Ring chromosome 4 syndrome"
* https://www.orpha.net#1451 "CINCA syndrome"
* https://www.orpha.net#1475 "Renal coloboma syndrome"
* https://www.orpha.net#1479 "Atrial septal defect-atrioventricular conduction defects syndrome"
* https://www.orpha.net#1493 "Vici syndrome"
* https://www.orpha.net#1497 "X-linked complicated corpus callosum dysgenesis"
* https://www.orpha.net#1515 "Cranioectodermal dysplasia"
* https://www.orpha.net#1553 "Curry-Jones syndrome"
* https://www.orpha.net#1555 "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"
* https://www.orpha.net#1568 "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"
* https://www.orpha.net#1572 "Common variable immunodeficiency"
* https://www.orpha.net#1617 "2q24 microdeletion syndrome"
* https://www.orpha.net#1620 "Distal deletion 3p"
* https://www.orpha.net#1636 "Distal monosomy 7q36"
* https://www.orpha.net#1643 "Xp22.3 microdeletion syndrome"
* https://www.orpha.net#1660 "Dermoodontodysplasia"
* https://www.orpha.net#1662 "Restrictive dermopathy"
* https://www.orpha.net#1723 "Mosaic trisomy 2"
* https://www.orpha.net#1747 "Mosaic trisomy 7"
* https://www.orpha.net#1756 "Caudal duplication"
* https://www.orpha.net#1757 "Fibular dimelia-diplopodia syndrome"
* https://www.orpha.net#1786 "Acrofacial dysostosis, Catania type"
* https://www.orpha.net#1791 "Frontofacionasal dysplasia"
* https://www.orpha.net#1797 "Autosomal dominant spondylocostal dysostosis"
* https://www.orpha.net#1822 "Dysplasia epiphysealis hemimelica"
* https://www.orpha.net#1834 "Axial mesodermal dysplasia spectrum"
* https://www.orpha.net#1837 "Ulna metaphyseal dysplasia syndrome"
* https://www.orpha.net#1851 "Multicystic dysplastic kidney"
* https://www.orpha.net#1875 "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome"
* https://www.orpha.net#1882 "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome"
* https://www.orpha.net#1885 "Isolated ectopia lentis"
* https://www.orpha.net#1896 "EEC syndrome"
* https://www.orpha.net#1906 "Fetal valproate spectrum disorder"
* https://www.orpha.net#1916 "Diethylstilbestrol syndrome"
* https://www.orpha.net#1918 "Fetal minoxidil syndrome"
* https://www.orpha.net#1933 "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"
* https://www.orpha.net#1934 "Early infantile epileptic encephalopathy"
* https://www.orpha.net#1947 "Progressive epilepsy-intellectual disability syndrome, Finnish type"
* https://www.orpha.net#1951 "Epilepsy-telangiectasia syndrome"
* https://www.orpha.net#1964 "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome"
* https://www.orpha.net#1997 "Blepharo-cheilo-odontic syndrome"
* https://www.orpha.net#2001 "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome"
* https://www.orpha.net#2015 "Cleft palate-short stature-vertebral anomalies syndrome"
* https://www.orpha.net#2021 "Fibrochondrogenesis"
* https://www.orpha.net#2030 "Fibrosarcoma"
* https://www.orpha.net#2048 "Foix-Chavany-Marie syndrome"
* https://www.orpha.net#2059 "Fryns syndrome"
* https://www.orpha.net#2066 "Gamma-aminobutyric acid transaminase deficiency"
* https://www.orpha.net#2067 "GAPO syndrome"
* https://www.orpha.net#2088 "Fanconi-Bickel syndrome"
* https://www.orpha.net#2109 "Hallermann-Streiff-like syndrome"
* https://www.orpha.net#2110 "Hallux varus-preaxial polysyndactyly syndrome"
* https://www.orpha.net#2134 "Atypical hemolytic uremic syndrome"
* https://www.orpha.net#2137 "Autoimmune hepatitis"
* https://www.orpha.net#2150 "Hirschsprung disease-type D brachydactyly syndrome"
* https://www.orpha.net#2153 "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome"
* https://www.orpha.net#2158 "Histidinuria-renal tubular defect syndrome"
* https://www.orpha.net#2185 "Congenital hydrocephalus"
* https://www.orpha.net#2197 "Idiopathic hypercalciuria"
* https://www.orpha.net#2201 "Palmoplantar keratoderma-spastic paralysis syndrome"
* https://www.orpha.net#2229 "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"
* https://www.orpha.net#2237 "Hypoparathyroidism-sensorineural deafness-renal disease syndrome"
* https://www.orpha.net#2246 "Cerebellar hypoplasia-tapetoretinal degeneration syndrome"
* https://www.orpha.net#2250 "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"
* https://www.orpha.net#2300 "Multiple intestinal atresia"
* https://www.orpha.net#2302 "Asbestos intoxication"
* https://www.orpha.net#2314 "Autosomal dominant hyper-IgE syndrome"
* https://www.orpha.net#2326 "Kallmann syndrome-heart disease syndrome"
* https://www.orpha.net#2330 "Kasabach-Merritt syndrome"
* https://www.orpha.net#2348 "Familial partial lipodystrophy, Dunnigan type"
* https://www.orpha.net#2372 "Laryngocele"
* https://www.orpha.net#2380 "Legg-Calvé-Perthes disease"
* https://www.orpha.net#2394 "Pyruvate dehydrogenase E3 deficiency"
* https://www.orpha.net#2405 "Thickened earlobes-conductive deafness syndrome"
* https://www.orpha.net#2489 "Upper limb defect-eye and ear abnormalities syndrome"
* https://www.orpha.net#2515 "Microcephaly-cardiomyopathy syndrome"
* https://www.orpha.net#2521 "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome"
* https://www.orpha.net#2554 "Ear-patella-short stature syndrome"
* https://www.orpha.net#2558 "Mikati-Najjar-Sahli syndrome"
* https://www.orpha.net#2576 "Mulibrey nanism"
* https://www.orpha.net#2587 "Myeloperoxidase deficiency"
* https://www.orpha.net#2590 "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"
* https://www.orpha.net#2591 "Infantile myofibromatosis"
* https://www.orpha.net#2598 "Mitochondrial myopathy and sideroblastic anemia"
* https://www.orpha.net#2608 "N syndrome"
* https://www.orpha.net#2616 "3M syndrome"
* https://www.orpha.net#2623 "Geleophysic dysplasia"
* https://www.orpha.net#2632 "Langer mesomelic dysplasia"
* https://www.orpha.net#2653 "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome"
* https://www.orpha.net#2680 "Hypomyelination neuropathy-arthrogryposis syndrome"
* https://www.orpha.net#2699 "Median nodule of the upper lip"
* https://www.orpha.net#2714 "Oculo-palato-cerebral syndrome"
* https://www.orpha.net#2717 "Oculotrichoanal syndrome"
* https://www.orpha.net#2718 "Oculotrichodysplasia"
* https://www.orpha.net#2722 "Odonto-onycho dysplasia-alopecia syndrome"
* https://www.orpha.net#2723 "Odontotrichomelic syndrome"
* https://www.orpha.net#2743 "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome"
* https://www.orpha.net#2745 "Opitz GBBB syndrome"
* https://www.orpha.net#2751 "Orofaciodigital syndrome type 2"
* https://www.orpha.net#2752 "Orofaciodigital syndrome type 3"
* https://www.orpha.net#2770 "Nasu-Hakola disease"
* https://www.orpha.net#2785 "Osteopetrosis with renal tubular acidosis"
* https://www.orpha.net#2787 "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome"
* https://www.orpha.net#2789 "Lateral meningocele syndrome"
* https://www.orpha.net#2793 "Otoonychoperoneal syndrome"
* https://www.orpha.net#2801 "Juvenile Paget disease"
* https://www.orpha.net#2804 "W syndrome"
* https://www.orpha.net#2808 "Laryngeal abductor paralysis"
* https://www.orpha.net#2809 "Familial recurrent peripheral facial palsy"
* https://www.orpha.net#2819 "Spastic paraplegia-facial-cutaneous lesions syndrome"
* https://www.orpha.net#2881 "Cutaneous photosensitivity-lethal colitis syndrome"
* https://www.orpha.net#2891 "Pili torti-developmental delay-neurological abnormalities syndrome"
* https://www.orpha.net#2892 "Pilodental dysplasia-refractive errors syndrome"
* https://www.orpha.net#2902 "Idiopathic chronic eosinophilic pneumonia"
* https://www.orpha.net#2916 "Postaxial polydactyly-dental and vertebral anomalies syndrome"
* https://www.orpha.net#2920 "Oliver syndrome"
* https://www.orpha.net#2951 "Absent thumb-short stature-immunodeficiency syndrome"
* https://www.orpha.net#2958 "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"
* https://www.orpha.net#2962 "De Barsy syndrome"
* https://www.orpha.net#2964 "Autosomal dominant prognathism"
* https://www.orpha.net#2971 "Peroxisomal acyl-CoA oxidase deficiency"
* https://www.orpha.net#2973 "46,XX difference of sex development-anorectal anomalies syndrome"
* https://www.orpha.net#3000 "Familial peripheral male-limited precocious puberty"
* https://www.orpha.net#3010 "Qazi-Markouizos syndrome"
* https://www.orpha.net#3035 "Growth delay-hydrocephaly-lung hypoplasia syndrome"
* https://www.orpha.net#3042 "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome"
* https://www.orpha.net#3063 "X-linked intellectual disability, Snyder type"
* https://www.orpha.net#3078 "Severe X-linked intellectual disability, Gustavson type"
* https://www.orpha.net#3093 "Congenital aortic valve stenosis"
* https://www.orpha.net#3144 "Schneckenbecken dysplasia"
* https://www.orpha.net#3152 "Sclerosteosis"
* https://www.orpha.net#3162 "Sézary syndrome"
* https://www.orpha.net#3163 "SHORT syndrome"
* https://www.orpha.net#3175 "X-linked spasticity-intellectual disability-epilepsy syndrome"
* https://www.orpha.net#3181 "Sprengel deformity"
* https://www.orpha.net#3191 "Subaortic stenosis-short stature syndrome"
* https://www.orpha.net#3196 "Steroid dehydrogenase deficiency-dental anomalies syndrome"
* https://www.orpha.net#3205 "Sturge-Weber syndrome"
* https://www.orpha.net#3222 "Phosphoribosylpyrophosphate synthetase superactivity"
* https://www.orpha.net#3232 "Deafness-ear malformation-facial palsy syndrome"
* https://www.orpha.net#3246 "Symphalangism with multiple anomalies of hands and feet"
* https://www.orpha.net#3263 "Syngnathia-cleft palate syndrome"
* https://www.orpha.net#3269 "Congenital radioulnar synostosis"
* https://www.orpha.net#3270 "Radioulnar synostosis-developmental delay-hypotonia syndrome"
* https://www.orpha.net#3293 "Telecanthus-hypertelorism-strabismus-pes cavus syndrome"
* https://www.orpha.net#3312 "Thalidomide embryopathy"
* https://www.orpha.net#3320 "Thrombocytopenia-absent radius syndrome"
* https://www.orpha.net#3322 "Hoyeraal-Hreidarsson syndrome"
* https://www.orpha.net#3346 "Tracheal agenesis"
* https://www.orpha.net#3366 "Non-syndromic metopic craniosynostosis"
* https://www.orpha.net#3383 "Humerus trochlea aplasia"
* https://www.orpha.net#3404 "Ulbright-Hodes syndrome"
* https://www.orpha.net#3406 "Ulerythema ophryogenesis"
* https://www.orpha.net#3417 "Van den Bosch syndrome"
* https://www.orpha.net#3426 "Double outlet right ventricle"
* https://www.orpha.net#3448 "Weaver-Williams syndrome"
* https://www.orpha.net#3451 "Infantile spasms syndrome"
* https://www.orpha.net#3465 "Worster-Drought syndrome"
* https://www.orpha.net#26106 "Hereditary diffuse gastric cancer"
* https://www.orpha.net#26137 "Juvenile temporal arteritis"
* https://www.orpha.net#29822 "Spontaneous periodic hypothermia"
* https://www.orpha.net#30391 "Isolated biliary atresia"
* https://www.orpha.net#31202 "Melioidosis"
* https://www.orpha.net#31709 "Infantile convulsions and choreoathetosis"
* https://www.orpha.net#31828 "Digitalis poisoning"
* https://www.orpha.net#34587 "Glycogen storage disease due to LAMP-2 deficiency"
* https://www.orpha.net#35063 "Fulminant viral hepatitis"
* https://www.orpha.net#35120 "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"
* https://www.orpha.net#35710 "Glucose-galactose malabsorption"
* https://www.orpha.net#35737 "Morning glory disc anomaly"
* https://www.orpha.net#36236 "Staphylococcal scalded skin syndrome"
* https://www.orpha.net#36367 "Distal deletion 1q"
* https://www.orpha.net#36382 "Familial cervical artery dissection"
* https://www.orpha.net#36412 "Hypocomplementemic urticarial vasculitis"
* https://www.orpha.net#36426 "Stevens-Johnson syndrome"
* https://www.orpha.net#43116 "Serotonin syndrome"
* https://www.orpha.net#45448 "Miyoshi myopathy"
* https://www.orpha.net#46059 "Lathosterolosis"
* https://www.orpha.net#46486 "Mucous membrane pemphigoid"
* https://www.orpha.net#48104 "Pyoderma gangrenosum"
* https://www.orpha.net#49382 "Achromatopsia"
* https://www.orpha.net#50918 "Kikuchi-Fujimoto disease"
* https://www.orpha.net#50945 "Blomstrand lethal chondrodysplasia"
* https://www.orpha.net#51208 "Formiminoglutamic aciduria"
* https://www.orpha.net#52429 "Branchiootic syndrome"
* https://www.orpha.net#53347 "Brody myopathy"
* https://www.orpha.net#53691 "Congenital cornea plana"
* https://www.orpha.net#53693 "GRACILE syndrome"
* https://www.orpha.net#53719 "Wyburn-Mason syndrome"
* https://www.orpha.net#54251 "Corticosteroid-sensitive aseptic abscess syndrome"
* https://www.orpha.net#59181 "Sorsby pseudoinflammatory fundus dystrophy"
* https://www.orpha.net#60025 "Pulmonary alveolar microlithiasis"
* https://www.orpha.net#60032 "Recurrent respiratory papillomatosis"
* https://www.orpha.net#63446 "Acrocapitofemoral dysplasia"
* https://www.orpha.net#64686 "Tolosa-Hunt syndrome"
* https://www.orpha.net#64741 "Pulmonary blastoma"
* https://www.orpha.net#64742 "Pleuropulmonary blastoma"
* https://www.orpha.net#64752 "Hereditary sensory and autonomic neuropathy type 5"
* https://www.orpha.net#65283 "Timothy syndrome"
* https://www.orpha.net#65684 "Monomelic amyotrophy"
* https://www.orpha.net#65748 "Multiple self-healing squamous epithelioma"
* https://www.orpha.net#65759 "Carpenter syndrome"
* https://www.orpha.net#66628 "Obesity due to congenital leptin deficiency"
* https://www.orpha.net#67046 "3-methylglutaconic aciduria type 1"
* https://www.orpha.net#69063 "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"
* https://www.orpha.net#69077 "Rhabdoid tumor"
* https://www.orpha.net#70594 "Dopa-responsive dystonia due to sepiapterin reductase deficiency"
* https://www.orpha.net#71211 "Neuromyelitis optica spectrum disorder"
* https://www.orpha.net#71272 "Sandifer syndrome"
* https://www.orpha.net#71528 "Obesity due to prohormone convertase I deficiency"
* https://www.orpha.net#73223 "Global developmental delay-osteopenia-ectodermal defect syndrome"
* https://www.orpha.net#73260 "Paracoccidioidomycosis"
* https://www.orpha.net#73263 "Zygomycosis"
* https://www.orpha.net#73272 "Growth delay due to insulin-like growth factor type 1 deficiency"
* https://www.orpha.net#73273 "Growth delay due to insulin-like growth factor I resistance"
* https://www.orpha.net#75234 "Cholesteryl ester storage disease"
* https://www.orpha.net#75325 "Osteosclerosis-ichthyosis-premature ovarian failure syndrome"
* https://www.orpha.net#75373 "Progressive bifocal chorioretinal atrophy"
* https://www.orpha.net#75392 "Periodontal Ehlers-Danlos syndrome"
* https://www.orpha.net#77258 "Trichorhinophalangeal syndrome type 1"
* https://www.orpha.net#77260 "Gaucher disease type 2"
* https://www.orpha.net#77293 "Chronic visceral acid sphingomyelinase deficiency"
* https://www.orpha.net#79078 "IgG4-related dacryoadenitis and sialadenitis"
* https://www.orpha.net#79094 "Grange syndrome"
* https://www.orpha.net#79107 "Developmental malformations-deafness-dystonia syndrome"
* https://www.orpha.net#79134 "DEND syndrome"
* https://www.orpha.net#79148 "Elastosis perforans serpiginosa"
* https://www.orpha.net#79233 "Hypoxanthine guanine phosphoribosyltransferase partial deficiency"
* https://www.orpha.net#79240 "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency"
* https://www.orpha.net#79277 "Congenital erythropoietic porphyria"
* https://www.orpha.net#79280 "Alpha-N-acetylgalactosaminidase deficiency type 2"
* https://www.orpha.net#79310 "Vitamin B12-responsive methylmalonic acidemia type cblA"
* https://www.orpha.net#79320 "ALG6-CDG"
* https://www.orpha.net#79327 "ALG1-CDG"
* https://www.orpha.net#79329 "MGAT2-CDG"
* https://www.orpha.net#79403 "Junctional epidermolysis bullosa with pyloric atresia"
* https://www.orpha.net#79434 "Oculocutaneous albinism type 1B"
* https://www.orpha.net#79467 "Verrucous nevus"
* https://www.orpha.net#79484 "Phakomatosis cesiomarmorata"
* https://www.orpha.net#79495 "X-linked congenital generalized hypertrichosis"
* https://www.orpha.net#79501 "Punctate palmoplantar keratoderma type 1"
* https://www.orpha.net#79651 "Mild hyperphenylalaninemia"
* https://www.orpha.net#79665 "Gardner syndrome"
* https://www.orpha.net#83313 "Boutonneuse fever"
* https://www.orpha.net#83314 "Epidemic typhus"
* https://www.orpha.net#83330 "Proximal spinal muscular atrophy type 1"
* https://www.orpha.net#83418 "Proximal spinal muscular atrophy type 2"
* https://www.orpha.net#83476 "West-Nile encephalitis"
* https://www.orpha.net#83601 "Steroid-responsive encephalopathy associated with autoimmune thyroiditis"
* https://www.orpha.net#83616 "Rubella panencephalitis"
* https://www.orpha.net#85136 "Cystic leukoencephalopathy without megalencephaly"
* https://www.orpha.net#85173 "IMAGe syndrome"
* https://www.orpha.net#85175 "Astley-Kendall dysplasia"
* https://www.orpha.net#85200 "Ischiovertebral syndrome"
* https://www.orpha.net#85278 "Christianson syndrome"
* https://www.orpha.net#85279 "KDM5C-related syndromic X-linked intellectual disability"
* https://www.orpha.net#85280 "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"
* https://www.orpha.net#85436 "Psoriasis-related juvenile idiopathic arthritis"
* https://www.orpha.net#85446 "Wild type ABeta2M amyloidosis"
* https://www.orpha.net#85447 "ATTRV30M amyloidosis"
* https://www.orpha.net#86815 "Aplasia of lacrimal and salivary glands"
* https://www.orpha.net#86822 "Lissencephaly type 3-metacarpal bone dysplasia syndrome"
* https://www.orpha.net#86855 "Plasmacytoma"
* https://www.orpha.net#86880 "Enteropathy-associated T-cell lymphoma"
* https://www.orpha.net#86884 "Subcutaneous panniculitis-like T-cell lymphoma"
* https://www.orpha.net#86902 "Follicular dendritic cell sarcoma"
* https://www.orpha.net#86913 "Myoclonic epilepsy in non-progressive encephalopathies"
* https://www.orpha.net#86918 "Diffuse palmoplantar keratoderma-acrocyanosis syndrome"
* https://www.orpha.net#87884 "Non-syndromic genetic deafness"
* https://www.orpha.net#88637 "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"
* https://www.orpha.net#88917 "X-linked Alport syndrome"
* https://www.orpha.net#89838 "Autosomal recessive generalized epidermolysis bullosa simplex"
* https://www.orpha.net#89936 "X-linked hypophosphatemia"
* https://www.orpha.net#90003 "Inflammatory pseudotumor of the liver"
* https://www.orpha.net#90044 "Familial pseudohyperkalemia"
* https://www.orpha.net#90045 "Hereditary folate malabsorption"
* https://www.orpha.net#90053 "Complications after hematopoietic stem cell transplantation"
* https://www.orpha.net#90056 "Moderate and severe traumatic brain injury"
* https://www.orpha.net#90058 "Spinal cord injury"
* https://www.orpha.net#90076 "Partial deep dermal and full thickness burns"
* https://www.orpha.net#90153 "Mandibuloacral dysplasia with type A lipodystrophy"
* https://www.orpha.net#90160 "Pressure-induced localized lipoatrophy"
* https://www.orpha.net#90340 "Blau syndrome"
* https://www.orpha.net#90362 "Primary intestinal lymphangiectasia"
* https://www.orpha.net#90390 "Anonychia-onychodystrophy syndrome"
* https://www.orpha.net#90395 "Papular mucinosis of infancy"
* https://www.orpha.net#90650 "Otopalatodigital syndrome type 1"
* https://www.orpha.net#90673 "Hypothyroidism due to TSH receptor mutations"
* https://www.orpha.net#90793 "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"
* https://www.orpha.net#91130 "Cardiomyopathy-hypotonia-lactic acidosis syndrome"
* https://www.orpha.net#91131 "DK1-CDG"
* https://www.orpha.net#91138 "Cryoglobulinemic vasculitis"
* https://www.orpha.net#91348 "Functioning gonadotropic adenoma"
* https://www.orpha.net#91350 "Pituitary deficiency due to Rathke cleft cysts"
* https://www.orpha.net#91354 "Pituitary deficiency due to empty sella turcica syndrome"
* https://www.orpha.net#91358 "Congenital esophageal diverticulum"
* https://www.orpha.net#91412 "Marcus-Gunn syndrome"
* https://www.orpha.net#91494 "Macular coloboma-cleft palate-hallux valgus syndrome"
* https://www.orpha.net#91495 "Persistent hyperplastic primary vitreous"
* https://www.orpha.net#92050 "Congenital tufting enteropathy"
* https://www.orpha.net#93100 "Renal agenesis, unilateral"
* https://www.orpha.net#93176 "Unilateral congenital megacalycosis"
* https://www.orpha.net#93271 "Short rib-polydactyly syndrome, Verma-Naumoff type"
* https://www.orpha.net#93277 "Monostotic fibrous dysplasia"
* https://www.orpha.net#93292 "Adenoma of pancreas"
* https://www.orpha.net#93349 "X-linked spondyloepimetaphyseal dysplasia"
* https://www.orpha.net#93382 "Brachydactyly type A6"
* https://www.orpha.net#93400 "Congenital sialidosis type 2"
* https://www.orpha.net#93402 "Syndactyly type 1"
* https://www.orpha.net#93404 "Syndactyly type 3"
* https://www.orpha.net#93405 "Syndactyly type 4"
* https://www.orpha.net#93406 "Syndactyly type 5"
* https://www.orpha.net#93552 "Pediatric systemic lupus erythematosus"
* https://www.orpha.net#93556 "Heavy chain deposition disease"
* https://www.orpha.net#93562 "AFib amyloidosis"
* https://www.orpha.net#93685 "Unicentric Castleman disease"
* https://www.orpha.net#93928 "Isolated epispadias"
* https://www.orpha.net#93929 "Cloacal exstrophy"
* https://www.orpha.net#93932 "FG syndrome type 1"
* https://www.orpha.net#93947 "X-linked intellectual disability, Golabi-Ito-Hall type"
* https://www.orpha.net#93969 "Open spinal dysraphism with a myelomeningocele"
* https://www.orpha.net#94058 "Neovascular glaucoma"
* https://www.orpha.net#94122 "Cerebellar ataxia, Cayman type"
* https://www.orpha.net#95512 "Adenohypophysitis"
* https://www.orpha.net#95854 "Levocardia"
* https://www.orpha.net#96055 "Tetrasomy 21"
* https://www.orpha.net#96092 "8p inverted duplication/deletion syndrome"
* https://www.orpha.net#96097 "Distal duplication 5q"
* https://www.orpha.net#96102 "Distal duplication 10q"
* https://www.orpha.net#96126 "Distal deletion 7p"
* https://www.orpha.net#96147 "Kleefstra syndrome due to 9q34 microdeletion"
* https://www.orpha.net#96177 "Ring chromosome 15 syndrome"
* https://www.orpha.net#96182 "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"
* https://www.orpha.net#96193 "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11"
* https://www.orpha.net#97249 "Pontocerebellar hypoplasia type 3"
* https://www.orpha.net#97286 "Carney-Stratakis syndrome"
* https://www.orpha.net#97332 "Kienbock disease"
* https://www.orpha.net#97339 "Dural sinus malformation"
* https://www.orpha.net#97349 "Postencephalitic parkinsonism"
* https://www.orpha.net#97367 "Renal tubular dysgenesis due to twin-twin transfusion"
* https://www.orpha.net#97368 "Drug-related renal tubular dysgenesis"
* https://www.orpha.net#97598 "Congenital renal artery stenosis"
* https://www.orpha.net#98619 "Rare isolated myopia"
* https://www.orpha.net#98760 "Spinocerebellar ataxia type 8"
* https://www.orpha.net#98762 "Spinocerebellar ataxia type 12"
* https://www.orpha.net#98794 "Angelman syndrome due to maternal 15q11q13 deletion"
* https://www.orpha.net#98818 "Landau-Kleffner syndrome"
* https://www.orpha.net#98827 "Unclassified myelodysplastic syndrome"
* https://www.orpha.net#98843 "Classic Hodgkin lymphoma, nodular sclerosis type"
* https://www.orpha.net#98845 "Classic Hodgkin lymphoma, lymphocyte-rich type"
* https://www.orpha.net#98850 "Aggressive systemic mastocytosis"
* https://www.orpha.net#98878 "Hemophilia A"
* https://www.orpha.net#98912 "Late-onset distal myopathy, Markesbery-Griggs type"
* https://www.orpha.net#98938 "Colobomatous microphthalmia"
* https://www.orpha.net#98944 "Coloboma of iris"
* https://www.orpha.net#98948 "Congenital symblepharon"
* https://www.orpha.net#98949 "Complete cryptophthalmia"
* https://www.orpha.net#98960 "Thiel-Behnke corneal dystrophy"
* https://www.orpha.net#98969 "Macular corneal dystrophy"
* https://www.orpha.net#98985 "Early-onset sutural cataract"
* https://www.orpha.net#98993 "Early-onset posterior polar cataract"
* https://www.orpha.net#99004 "Fundus pulverulentus"
* https://www.orpha.net#99049 "Pulmonary artery coming from patent ductus arteriosus"
* https://www.orpha.net#99053 "Tunnel subaortic stenosis"
* https://www.orpha.net#99054 "Valvular pulmonary stenosis"
* https://www.orpha.net#99072 "Congenital patent ductus arteriosus aneurysm"
* https://www.orpha.net#99092 "Interventricular septum aneurysm"
* https://www.orpha.net#99100 "Juxtaposition of the atrial appendages"
* https://www.orpha.net#99101 "Ectasia of the right atrial appendage"
* https://www.orpha.net#99107 "Atrial septal aneurysm"
* https://www.orpha.net#99113 "Subaortic course of innominate vein"
* https://www.orpha.net#99114 "Agenesis of the superior vena cava"
* https://www.orpha.net#99123 "Inferior vena cava interruption without azygos continuation"
* https://www.orpha.net#99756 "Alveolar rhabdomyosarcoma"
* https://www.orpha.net#99853 "Ovarioleukodystrophy"
* https://www.orpha.net#99867 "Thymoma"
* https://www.orpha.net#99885 "Isolated permanent neonatal diabetes mellitus"
* https://www.orpha.net#99898 "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"
* https://www.orpha.net#99932 "Heiner syndrome"
* https://www.orpha.net#99934 "Pleuropulmonary blastoma type 2"
* https://www.orpha.net#99951 "Charcot-Marie-Tooth disease type 4E"
* https://www.orpha.net#99952 "Charcot-Marie-Tooth disease type 4F"
* https://www.orpha.net#99955 "Charcot-Marie-Tooth disease type 4B1"
* https://www.orpha.net#99961 "Benign recurrent intrahepatic cholestasis type 2"
* https://www.orpha.net#99978 "Klatskin tumor"
* https://www.orpha.net#100012 "Lissencephaly with cerebellar hypoplasia type B"
* https://www.orpha.net#100051 "Hereditary angioedema type 2"
* https://www.orpha.net#100054 "F12-related hereditary angioedema with normal C1Inh"
* https://www.orpha.net#100080 "Neuroendocrine tumor of the colon"
* https://www.orpha.net#100989 "Autosomal dominant spastic paraplegia type 8"
* https://www.orpha.net#100997 "X-linked spastic paraplegia type 16"
* https://www.orpha.net#101003 "Autosomal recessive spastic paraplegia type 23"
* https://www.orpha.net#101009 "Autosomal dominant spastic paraplegia type 29"
* https://www.orpha.net#101041 "Familial hypofibrinogenemia"
* https://www.orpha.net#101071 "Unilateral hemispheric polymicrogyria"
* https://www.orpha.net#101108 "Spinocerebellar ataxia type 23"
* https://www.orpha.net#101206 "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome"
* https://www.orpha.net#101685 "Rare non-syndromic intellectual disability"
* https://www.orpha.net#103920 "Undetermined colitis"
* https://www.orpha.net#137675 "Histiocytoid cardiomyopathy"
* https://www.orpha.net#137834 "Frank-Ter Haar syndrome"
* https://www.orpha.net#137893 "Male infertility due to large-headed multiflagellar polyploid spermatozoa"
* https://www.orpha.net#137898 "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"
* https://www.orpha.net#137929 "Neonatal brainstem dysfunction"
* https://www.orpha.net#139441 "Hypomyelination with atrophy of basal ganglia and cerebellum"
* https://www.orpha.net#139450 "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome"
* https://www.orpha.net#139471 "Microphthalmia with brain and digit anomalies"
* https://www.orpha.net#140481 "Autosomal dominant slowed nerve conduction velocity"
* https://www.orpha.net#140917 "Stapes ankylosis with broad thumbs and toes"
* https://www.orpha.net#140936 "Lelis syndrome"
* https://www.orpha.net#141013 "First branchial cleft anomaly"
* https://www.orpha.net#141022 "Second branchial cleft anomaly"
* https://www.orpha.net#141046 "Cervical dermoid cyst"
* https://www.orpha.net#141064 "Lower lip fistula"
* https://www.orpha.net#141112 "Nasal glial heterotopia"
* https://www.orpha.net#141148 "Hemifacial myohyperplasia"
* https://www.orpha.net#141184 "Rapidly involuting congenital hemangioma"
* https://www.orpha.net#141276 "Tessier number 7 facial cleft"
* https://www.orpha.net#141330 "Orofaciodigital syndrome type 13"
* https://www.orpha.net#157823 "Klüver-Bucy syndrome"
* https://www.orpha.net#158057 "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease"
* https://www.orpha.net#158668 "Ectodermal dysplasia-skin fragility syndrome"
* https://www.orpha.net#162516 "Isolated congenital nasal pyriform aperture stenosis"
* https://www.orpha.net#163596 "Hb Bart's hydrops fetalis"
* https://www.orpha.net#163961 "X-linked cerebral-cerebellar-coloboma syndrome"
* https://www.orpha.net#166032 "Multiple epiphyseal dysplasia, with miniepiphyses"
* https://www.orpha.net#166282 "Familial sick sinus syndrome"
* https://www.orpha.net#166418 "Eating reflex epilepsy"
* https://www.orpha.net#168443 "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"
* https://www.orpha.net#168486 "Congenital neuronal ceroid lipofuscinosis"
* https://www.orpha.net#168566 "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"
* https://www.orpha.net#168816 "Peritoneal cystic mesothelioma"
* https://www.orpha.net#168940 "Chronic eosinophilic leukemia"
* https://www.orpha.net#168950 "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement"
* https://www.orpha.net#169105 "Good syndrome"
* https://www.orpha.net#169157 "T-B+ severe combined immunodeficiency due to CD45 deficiency"
* https://www.orpha.net#169796 "Moderate hemophilia B"
* https://www.orpha.net#169808 "Mild hemophilia A"
* https://www.orpha.net#171673 "Limbal stem cell deficiency"
* https://www.orpha.net#171690 "Metabolic myopathy due to lactate transporter defect"
* https://www.orpha.net#171709 "Male infertility due to globozoospermia"
* https://www.orpha.net#171929 "Trisomy 10p"
* https://www.orpha.net#177907 "Prader-Willi syndrome due to translocation"
* https://www.orpha.net#178145 "Moderate multiminicore disease with hand involvement"
* https://www.orpha.net#178396 "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"
* https://www.orpha.net#178509 "Perry syndrome"
* https://www.orpha.net#180142 "Absence of uterine body"
* https://www.orpha.net#180242 "Malignant tumor of fallopian tubes"
* https://www.orpha.net#183675 "Recurrent infections associated with rare immunoglobulin isotypes deficiency"
* https://www.orpha.net#199241 "Pulmonary capillary hemangiomatosis"
* https://www.orpha.net#199329 "Congenital myopathy, Paradas type"
* https://www.orpha.net#208447 "Bilateral generalized polymicrogyria"
* https://www.orpha.net#208513 "Spinocerebellar ataxia type 29"
* https://www.orpha.net#208524 "Herpetiform pemphigus"
* https://www.orpha.net#209902 "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"
* https://www.orpha.net#209967 "Episodic ataxia type 6"
* https://www.orpha.net#209989 "Non-papillary transitional cell carcinoma of the bladder"
* https://www.orpha.net#210141 "Inherited congenital spastic tetraplegia"
* https://www.orpha.net#210144 "Lethal polymalformative syndrome, Boissel type"
* https://www.orpha.net#213711 "Endometrial stromal sarcoma"
* https://www.orpha.net#213731 "High-grade neuroendocrine carcinoma of the corpus uteri"
* https://www.orpha.net#213736 "Low-grade neuroendocrine tumor of the corpus uteri"
* https://www.orpha.net#213746 "Transitional cell carcinoma of the corpus uteri"
* https://www.orpha.net#216820 "Osteogenesis imperfecta type 4"
* https://www.orpha.net#216866 "Classic pantothenate kinase-associated neurodegeneration"
* https://www.orpha.net#217064 "5-fluorouracil poisoning"
* https://www.orpha.net#217093 "Mucopolysaccharidosis type 2, attenuated form"
* https://www.orpha.net#217382 "Neurodegenerative syndrome due to cerebral folate transport deficiency"
* https://www.orpha.net#217396 "Progressive polyneuropathy with bilateral striatal necrosis"
* https://www.orpha.net#217566 "Chronic respiratory distress with surfactant metabolism deficiency"
* https://www.orpha.net#220393 "Diffuse cutaneous systemic sclerosis"
* https://www.orpha.net#220443 "Bleeding diathesis due to thromboxane synthesis deficiency"
* https://www.orpha.net#221142 "Confetti-like macular atrophy"
* https://www.orpha.net#228119 "Fusariosis"
* https://www.orpha.net#228123 "Coccidioidomycosis"
* https://www.orpha.net#228140 "Idiopathic ventricular fibrillation, non Brugada type"
* https://www.orpha.net#228371 "Foodborne botulism"
* https://www.orpha.net#228390 "Frontonasal dysplasia-alopecia-genital anomalies syndrome"
* https://www.orpha.net#231080 "High-grade dysplasia in patients with Barrett esophagus"
* https://www.orpha.net#231108 "Rhabdoid tumor predisposition syndrome"
* https://www.orpha.net#231512 "Hermansky-Pudlak syndrome due to BLOC-2 deficiency"
* https://www.orpha.net#238468 "Hypohidrotic ectodermal dysplasia"
* https://www.orpha.net#238613 "Beckwith-Wiedemann syndrome due to NSD1 mutation"
* https://www.orpha.net#238688 "Neonatal iodine exposure"
* https://www.orpha.net#240085 "Progressive supranuclear palsy-parkinsonism syndrome"
* https://www.orpha.net#243367 "Acute fatty liver of pregnancy"
* https://www.orpha.net#247198 "Progressive cerebello-cerebral atrophy"
* https://www.orpha.net#247262 "Hyperphosphatasia-intellectual disability syndrome"
* https://www.orpha.net#247598 "Neonatal intrahepatic cholestasis due to citrin deficiency"
* https://www.orpha.net#247667 "Childhood-onset hypophosphatasia"
* https://www.orpha.net#247691 "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"
* https://www.orpha.net#247724 "Idiopathic eosinophilic myositis"
* https://www.orpha.net#247762 "Lipoblastoma"
* https://www.orpha.net#247815 "Autosomal recessive ataxia due to PEX10 deficiency"
* https://www.orpha.net#247820 "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome"
* https://www.orpha.net#250999 "1q41q42 microdeletion syndrome"
* https://www.orpha.net#251009 "Maternal uniparental disomy of chromosome 1"
* https://www.orpha.net#251019 "2q32q33 microdeletion syndrome"
* https://www.orpha.net#251262 "Familial osteochondritis dissecans"
* https://www.orpha.net#251295 "Pigmented paravenous retinochoroidal atrophy"
* https://www.orpha.net#251582 "Gliomatosis cerebri"
* https://www.orpha.net#251604 "Gemistocytic astrocytoma"
* https://www.orpha.net#251607 "Pleomorphic xanthoastrocytoma"
* https://www.orpha.net#251615 "Pilomyxoid astrocytoma"
* https://www.orpha.net#251636 "Ependymoma"
* https://www.orpha.net#251639 "Subependymoma"
* https://www.orpha.net#251902 "Atypical papilloma of choroid plexus"
* https://www.orpha.net#251927 "Extraventricular neurocytoma"
* https://www.orpha.net#251940 "Desmoplastic infantile astrocytoma/ganglioglioma"
* https://www.orpha.net#251975 "Rosette-forming glioneuronal tumor"
* https://www.orpha.net#252164 "Benign schwannoma"
* https://www.orpha.net#252202 "Constitutional mismatch repair deficiency syndrome"
* https://www.orpha.net#254343 "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"
* https://www.orpha.net#254424 "Annular lichen planus"
* https://www.orpha.net#254698 "Epithelioid trophoblastic tumor"
* https://www.orpha.net#254905 "Isolated cytochrome C oxidase deficiency"
* https://www.orpha.net#261102 "Distal 7q11.23 microduplication syndrome"
* https://www.orpha.net#261144 "FOXG1 syndrome due to 14q12 microdeletion"
* https://www.orpha.net#261211 "16p11.2p12.2 microdeletion syndrome"
* https://www.orpha.net#261323 "21q22.11q22.12 microdeletion syndrome"
* https://www.orpha.net#261337 "Distal 22q11.2 microduplication syndrome"
* https://www.orpha.net#261349 "2p15p16.1 microdeletion syndrome"
* https://www.orpha.net#261476 "Xp21 deletion syndrome"
* https://www.orpha.net#261529 "Ring chromosome Y syndrome"
* https://www.orpha.net#261534 "49,XXXYY syndrome"
* https://www.orpha.net#261629 "Alagille syndrome due to a NOTCH2 point mutation"
* https://www.orpha.net#261638 "Okihiro syndrome due to 20q13 microdeletion"
* https://www.orpha.net#263324 "Thymoma type AB"
* https://www.orpha.net#263331 "Well-differentiated thymic neuroendocrine carcinoma"
* https://www.orpha.net#263458 "Hyperinsulinism due to INSR deficiency"
* https://www.orpha.net#263463 "CHST3-related skeletal dysplasia"
* https://www.orpha.net#263516 "Progressive myoclonic epilepsy type 3"
* https://www.orpha.net#263665 "NK-cell enteropathy"
* https://www.orpha.net#264580 "Glycogen storage disease due to liver phosphorylase kinase deficiency"
* https://www.orpha.net#264675 "Hereditary pulmonary alveolar proteinosis"
* https://www.orpha.net#268184 "Thiamine-responsive maple syrup urine disease"
* https://www.orpha.net#268829 "Basal encephalocele"
* https://www.orpha.net#268947 "Unilateral focal polymicrogyria"
* https://www.orpha.net#268961 "Isolated focal cortical dysplasia type I"
* https://www.orpha.net#269008 "Isolated focal cortical dysplasia type IIb"
* https://www.orpha.net#269229 "Pontine tegmental cap dysplasia"
* https://www.orpha.net#275523 "Dianzani autoimmune lymphoproliferative disease"
* https://www.orpha.net#276174 "Idiopathic recurrent stupor"
* https://www.orpha.net#276193 "Spinocerebellar ataxia type 35"
* https://www.orpha.net#276223 "Mucopolysaccharidosis type 6, slowly progressing"
* https://www.orpha.net#276244 "Machado-Joseph disease type 3"
* https://www.orpha.net#276280 "Hemihyperplasia-multiple lipomatosis syndrome"
* https://www.orpha.net#276598 "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"
* https://www.orpha.net#276630 "Symptomatic form of Coffin-Lowry syndrome in female carriers"
* https://www.orpha.net#279925 "Infectious panuveitis"
* https://www.orpha.net#280183 "Methylmalonic aciduria due to transcobalamin receptor defect"
* https://www.orpha.net#280234 "Null syndrome"
* https://www.orpha.net#280288 "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"
* https://www.orpha.net#280403 "Familial omphalocele syndrome with facial dysmorphism"
* https://www.orpha.net#280553 "Fatal infantile hypertonic myofibrillar myopathy"
* https://www.orpha.net#280576 "Nestor-Guillermo progeria syndrome"
* https://www.orpha.net#280620 "Progressive myoclonic epilepsy type 6"
* https://www.orpha.net#280679 "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome"
* https://www.orpha.net#280774 "Generalized essential telangiectasia"
* https://www.orpha.net#280811 "Extralobar congenital pulmonary sequestration"
* https://www.orpha.net#280917 "Idiopathic posterior uveitis"
* https://www.orpha.net#281190 "Congenital reticular ichthyosiform erythroderma"
* https://www.orpha.net#284180 "Xp22.13p22.2 duplication syndrome"
* https://www.orpha.net#284339 "Pontocerebellar hypoplasia type 7"
* https://www.orpha.net#284388 "Reversible cerebral vasoconstriction syndrome"
* https://www.orpha.net#289916 "Vitamin B12-unresponsive methylmalonic acidemia type mut0"
* https://www.orpha.net#293150 "Familial clubfoot due to PITX1 point mutation"
* https://www.orpha.net#293462 "Pre-Descemet corneal dystrophy"
* https://www.orpha.net#293843 "3MC syndrome"
* https://www.orpha.net#293864 "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"
* https://www.orpha.net#293958 "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome"
* https://www.orpha.net#294026 "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication"
* https://www.orpha.net#294422 "Chronic intestinal failure"
* https://www.orpha.net#294971 "Tetra-amelia"
* https://www.orpha.net#294983 "Acheiria"
* https://www.orpha.net#295020 "Congenital pseudoarthrosis of the femur"
* https://www.orpha.net#295032 "Isolated congenital radial head dislocation"
* https://www.orpha.net#295187 "Zygodactyly type 1"
* https://www.orpha.net#295191 "Zygodactyly type 3"
* https://www.orpha.net#295245 "Macrodactyly of toes, bilateral"
* https://www.orpha.net#300293 "Transient infantile hypertriglyceridemia and hepatosteatosis"
* https://www.orpha.net#300319 "Charcot-Marie-Tooth disease type 2P"
* https://www.orpha.net#300564 "Combined pulmonary fibrosis-emphysema syndrome"
* https://www.orpha.net#306530 "Congenital hereditary facial paralysis-variable hearing loss syndrome"
* https://www.orpha.net#306682 "Manganese poisoning"
* https://www.orpha.net#306734 "Primary dystonia, DYT21 type"
* https://www.orpha.net#308410 "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"
* https://www.orpha.net#309108 "Pancreatic colipase deficiency"
* https://www.orpha.net#309155 "Sandhoff disease, infantile form"
* https://www.orpha.net#309178 "Tay-Sachs disease, B variant, infantile form"
* https://www.orpha.net#309331 "Intermediate severe Salla disease"
* https://www.orpha.net#309854 "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"
* https://www.orpha.net#313772 "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"
* https://www.orpha.net#313846 "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"
* https://www.orpha.net#314017 "Idiopathic linear interstitial keratitis"
* https://www.orpha.net#314689 "Combined immunodeficiency due to STK4 deficiency"
* https://www.orpha.net#314777 "Familial isolated pituitary adenoma"
* https://www.orpha.net#314970 "Lymphocytic hypereosinophilic syndrome"
* https://www.orpha.net#317430 "Combined immunodeficiency due to STIM1 deficiency"
* https://www.orpha.net#317476 "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"
* https://www.orpha.net#319229 "Bolivian hemorrhagic fever"
* https://www.orpha.net#319552 "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"
* https://www.orpha.net#319678 "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"
* https://www.orpha.net#320355 "Autosomal dominant spastic paraplegia type 41"
* https://www.orpha.net#320375 "Autosomal recessive spastic paraplegia type 55"
* https://www.orpha.net#320385 "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation"
* https://www.orpha.net#320411 "Autosomal recessive spastic paraplegia type 56"
* https://www.orpha.net#324262 "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"
* https://www.orpha.net#324294 "T-cell immunodeficiency with epidermodysplasia verruciformis"
* https://www.orpha.net#324307 "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome"
* https://www.orpha.net#324718 "ABetaA21G amyloidosis"
* https://www.orpha.net#324737 "SRD5A3-CDG"
* https://www.orpha.net#324964 "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis"
* https://www.orpha.net#324972 "MAGIC syndrome"
* https://www.orpha.net#329217 "Cerebral sinovenous thrombosis"
* https://www.orpha.net#329466 "Autosomal dominant focal dystonia, DYT25 type"
* https://www.orpha.net#329475 "Spastic paraplegia-Paget disease of bone syndrome"
* https://www.orpha.net#329971 "Generalized juvenile polyposis/juvenile polyposis coli"
* https://www.orpha.net#329977 "Classic neuroendocrine tumor of appendix"
* https://www.orpha.net#330001 "Wild type ATTR amyloidosis"
* https://www.orpha.net#330021 "Mercury poisoning"
* https://www.orpha.net#330050 "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"
* https://www.orpha.net#331206 "Severe combined immunodeficiency due to complete RAG1/2 deficiency"
* https://www.orpha.net#352447 "Progressive external ophthalmoplegia-myopathy-emaciation syndrome"
* https://www.orpha.net#352563 "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"
* https://www.orpha.net#352587 "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"
* https://www.orpha.net#352709 "CLN13 disease"
* https://www.orpha.net#352723 "Attenuated Chédiak-Higashi syndrome"
* https://www.orpha.net#353277 "Rubinstein-Taybi syndrome due to CREBBP mutations"
* https://www.orpha.net#363412 "Hypomyelination with brain stem and spinal cord involvement and leg spasticity"
* https://www.orpha.net#363424 "Multiple mitochondrial dysfunctions syndrome type 3"
* https://www.orpha.net#363534 "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form"
* https://www.orpha.net#363623 "GMPPB-related limb-girdle muscular dystrophy R19"
* https://www.orpha.net#363677 "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"
* https://www.orpha.net#363992 "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome"
* https://www.orpha.net#364033 "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood"
* https://www.orpha.net#369840 "TRAPPC11-related limb-girdle muscular dystrophy R18"
* https://www.orpha.net#369970 "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"
* https://www.orpha.net#370039 "Angora hair nevus"
* https://www.orpha.net#370930 "XYLT1-CDG"
* https://www.orpha.net#370933 "GM3 synthase deficiency"
* https://www.orpha.net#391376 "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome"
* https://www.orpha.net#391384 "Familial episodic pain syndrome"
* https://www.orpha.net#391474 "Frontorhiny"
* https://www.orpha.net#391723 "Mucinous adenocarcinoma of the appendix"
* https://www.orpha.net#397685 "Familial hyperprolactinemia"
* https://www.orpha.net#397695 "3q27.3 microdeletion syndrome"
* https://www.orpha.net#397735 "Autosomal dominant Charcot-Marie-Tooth disease type 2U"
* https://www.orpha.net#397922 "Ferro-cerebro-cutaneous syndrome"
* https://www.orpha.net#397959 "TCR-alpha-beta-positive T-cell deficiency"
* https://www.orpha.net#398088 "Hereditary cryohydrocytosis with normal stomatin"
* https://www.orpha.net#398117 "Neonatal dermatomyositis"
* https://www.orpha.net#399103 "Distal nebulin myopathy"
* https://www.orpha.net#399293 "Osteonecrosis of the jaw"
* https://www.orpha.net#401849 "Autosomal spastic paraplegia type 72"
* https://www.orpha.net#401866 "Childhood-onset spasticity with hyperglycinemia"
* https://www.orpha.net#401948 "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"
* https://www.orpha.net#402014 "Acute myeloid leukemia with t(6;9)(p23;q34)"
* https://www.orpha.net#402023 "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)"
* https://www.orpha.net#402364 "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"
* https://www.orpha.net#404553 "Vasculitis due to ADA2 deficiency"
* https://www.orpha.net#411515 "Angelman syndrome due to imprinting defect in 15q11-q13"
* https://www.orpha.net#412181 "Epidermolysis bullosa simplex due to BP230 deficiency"
* https://www.orpha.net#412206 "Primary failure of tooth eruption"
* https://www.orpha.net#420179 "Malan overgrowth syndrome"
* https://www.orpha.net#420429 "Glycogen storage disease due to acid maltase deficiency, late-onset"
* https://www.orpha.net#420561 "Temple-Baraitser syndrome"
* https://www.orpha.net#420573 "Severe combined immunodeficiency due to CTPS1 deficiency"
* https://www.orpha.net#420733 "Combined oxidative phosphorylation defect type 21"
* https://www.orpha.net#420794 "Cono-spondylar dysplasia"
* https://www.orpha.net#423306 "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"
* https://www.orpha.net#423693 "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect"
* https://www.orpha.net#423786 "Undifferentiated carcinoma of stomach"
* https://www.orpha.net#423968 "Squamous cell carcinoma of the small intestine"
* https://www.orpha.net#423994 "Squamous cell carcinoma of the colon"
* https://www.orpha.net#424046 "Acinar cell carcinoma of pancreas"
* https://www.orpha.net#424053 "Mucinous cystadenocarcinoma of the pancreas"
* https://www.orpha.net#424058 "Intraductal papillary mucinous carcinoma of pancreas"
* https://www.orpha.net#435628 "Keppen-Lubinsky syndrome"
* https://www.orpha.net#435651 "CIDEC-related familial partial lipodystrophy"
* https://www.orpha.net#435804 "Short stature-advanced bone age-early-onset osteoarthritis syndrome"
* https://www.orpha.net#436169 "Thrombomodulin-related bleeding disorder"
* https://www.orpha.net#438134 "PCNA-related progressive neurodegenerative photosensitivity syndrome"
* https://www.orpha.net#438159 "STAT3-related early-onset multisystem autoimmune disease"
* https://www.orpha.net#440713 "Isolated sedoheptulokinase deficiency"
* https://www.orpha.net#441452 "Early-onset lamellar cataract"
* https://www.orpha.net#443062 "Familial porphyria cutanea tarda"
* https://www.orpha.net#443079 "Central serous chorioretinopathy"
* https://www.orpha.net#443098 "Hyperostosis cranialis interna"
* https://www.orpha.net#443101 "Hypothalamic adipsic hypernatraemia syndrome"
* https://www.orpha.net#444002 "11q22.2q22.3 microdeletion syndrome"
* https://www.orpha.net#447740 "Susceptibility to localized juvenile periodontitis"
* https://www.orpha.net#447877 "Polymerase proofreading-related adenomatous polyposis"
* https://www.orpha.net#447893 "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"
* https://www.orpha.net#447974 "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"
* https://www.orpha.net#447977 "Progressive scapulohumeroperoneal distal myopathy"
* https://www.orpha.net#449266 "Pleural empyema"
* https://www.orpha.net#453510 "Congenital insensitivity to pain with severe intellectual disability"
* https://www.orpha.net#454821 "Pleomorphic salivary gland adenoma"
* https://www.orpha.net#454840 "NTHL1-related attenuated familial adenomatous polyposis"
* https://www.orpha.net#6 "3-methylcrotonyl-CoA carboxylase deficiency"
* https://www.orpha.net#13 "6-pyruvoyl-tetrahydropterin synthase deficiency"
* https://www.orpha.net#37 "Acrodermatitis enteropathica"
* https://www.orpha.net#52 "Alagille syndrome"
* https://www.orpha.net#59 "Allan-Herndon-Dudley syndrome"
* https://www.orpha.net#64 "Alström syndrome"
* https://www.orpha.net#79 "Congenital alpha2-antiplasmin deficiency"
* https://www.orpha.net#90 "Argininemia"
* https://www.orpha.net#95 "Friedreich ataxia"
* https://www.orpha.net#98 "Autosomal recessive spastic ataxia of Charlevoix-Saguenay"
* https://www.orpha.net#113 "Bazex-Dupré-Christol syndrome"
* https://www.orpha.net#117 "Behçet disease"
* https://www.orpha.net#128 "Diphyllobothriasis"
* https://www.orpha.net#139 "CHILD syndrome"
* https://www.orpha.net#457095 "Actinomycosis"
* https://www.orpha.net#457246 "Clear cell sarcoma of kidney"
* https://www.orpha.net#457284 "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"
* https://www.orpha.net#457406 "Multiple mitochondrial dysfunctions syndrome type 4"
* https://www.orpha.net#464306 "DYRK1A-related intellectual disability syndrome"
* https://www.orpha.net#464329 "Kaposiform lymphangiomatosis"
* https://www.orpha.net#464724 "Fever-associated acute infantile liver failure syndrome"
* https://www.orpha.net#466695 "Supratip dysplasia"
* https://www.orpha.net#468666 "Isolated generalized anhidrosis with normal sweat glands"
* https://www.orpha.net#480556 "Isolated neonatal sclerosing cholangitis"
* https://www.orpha.net#480864 "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"
* https://www.orpha.net#480880 "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"
* https://www.orpha.net#480898 "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"
* https://www.orpha.net#482077 "HTRA1-related autosomal dominant cerebral small vessel disease"
* https://www.orpha.net#485358 "Propylthiouracil embryofetopathy"
* https://www.orpha.net#485418 "EMILIN-1-related connective tissue disease"
* https://www.orpha.net#486811 "Prenatal-onset spinal muscular atrophy with congenital bone fractures"
* https://www.orpha.net#486815 "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"
* https://www.orpha.net#487814 "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation"
* https://www.orpha.net#487825 "Pierpont syndrome"
* https://www.orpha.net#488168 "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome"
* https://www.orpha.net#488265 "Osteofibrous dysplasia"
* https://www.orpha.net#488586 "Congenital amyoplasia"
* https://www.orpha.net#488618 "Transketolase deficiency"
* https://www.orpha.net#494418 "Vulvar carcinoma"
* https://www.orpha.net#494526 "Infantile-onset generalized dyskinesia with orofacial involvement"
* https://www.orpha.net#496689 "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"
* https://www.orpha.net#497737 "Epidermolytic nevus"
* https://www.orpha.net#498359 "Aquagenic palmoplantar keratoderma"
* https://www.orpha.net#502305 "Cochleovestibular malformation"
* https://www.orpha.net#502434 "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome"
* https://www.orpha.net#502437 "4q25 proximal deletion syndrome"
* https://www.orpha.net#505216 "3-methylglutaconic aciduria type 9"
* https://www.orpha.net#505237 "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome"
* https://www.orpha.net#505242 "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"
* https://www.orpha.net#508410 "Familial intestinal malrotation"
* https://www.orpha.net#519930 "Fungal keratitis"
* https://www.orpha.net#521308 "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome"
* https://www.orpha.net#528623 "Hereditary angioedema with C1Inh deficiency"
* https://www.orpha.net#528663 "Acquired angioedema with C1Inh deficiency"
* https://www.orpha.net#529965 "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome"
* https://www.orpha.net#530298 "Progressive myoclonic epilepsy with neuroserpin inclusion bodies"
* https://www.orpha.net#530792 "RELA fusion-positive ependymoma"
* https://www.orpha.net#538756 "Familial multiple discoid fibromas"
* https://www.orpha.net#538869 "Bullous pyoderma gangrenosum"
* https://www.orpha.net#538872 "Vegetative pyoderma gangrenosum"
* https://www.orpha.net#543470 "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"
* https://www.orpha.net#544493 "Streptococcus pneumoniae-associated hemolytic uremic syndrome"
* https://www.orpha.net#544628 "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"
* https://www.orpha.net#556037 "Late-onset familial hypoaldosteronism"
* https://www.orpha.net#557003 "Oculoskeletodental syndrome"
* https://www.orpha.net#557056 "Spastic ataxia-dysarthria due to glutaminase deficiency"
* https://www.orpha.net#562528 "Congenital limbs-face contractures-hypotonia-developmental delay syndrome"
* https://www.orpha.net#562538 "Autosomal recessive extra-oral halitosis"
* https://www.orpha.net#563612 "Isolated exencephaly"
* https://www.orpha.net#563676 "Seromucinous cystadenoma of childhood"
* https://www.orpha.net#160 "Castleman disease"
* https://www.orpha.net#162 "Cataract-glaucoma syndrome"
* https://www.orpha.net#202 "Crandall syndrome"
* https://www.orpha.net#232 "Sickle cell anemia"
* https://www.orpha.net#241 "Dyschromatosis universalis hereditaria"
* https://www.orpha.net#266 "Autosomal dominant limb-girdle muscular dystrophy type 1A"
* https://www.orpha.net#267 "Calpain-3-related limb-girdle muscular dystrophy R1"
* https://www.orpha.net#276 "T-B+ severe combined immunodeficiency due to gamma chain deficiency"
* https://www.orpha.net#287 "Classical Ehlers-Danlos syndrome"
* https://www.orpha.net#288 "Hereditary elliptocytosis"
* https://www.orpha.net#306 "Benign familial infantile epilepsy"
* https://www.orpha.net#313 "Lamellar ichthyosis"
* https://www.orpha.net#324 "Fabry disease"
* https://www.orpha.net#332 "Congenital intrinsic factor deficiency"
* https://www.orpha.net#345 "Dissecting cellulitis of the scalp"
* https://www.orpha.net#381 "Griscelli syndrome"
* https://www.orpha.net#396 "Chronic hiccup"
* https://www.orpha.net#397 "Giant cell arteritis"
* https://www.orpha.net#403 "Familial hyperaldosteronism type I"
* https://www.orpha.net#408 "Isolated glycerol kinase deficiency"
* https://www.orpha.net#414 "Gyrate atrophy of choroid and retina"
* https://www.orpha.net#427 "Familial hypoaldosteronism"
* https://www.orpha.net#439 "Isolated right ventricular hypoplasia"
* https://www.orpha.net#441 "Pure autonomic failure"
* https://www.orpha.net#446 "Neonatal hemochromatosis"
* https://www.orpha.net#452 "X-linked lissencephaly with abnormal genitalia"
* https://www.orpha.net#454 "Acquired ichthyosis"
* https://www.orpha.net#474 "Jeune syndrome"
* https://www.orpha.net#485 "Kniest dysplasia"
* https://www.orpha.net#488 "Urachal cyst"
* https://www.orpha.net#493 "Familial keratoacanthoma"
* https://www.orpha.net#494 "Keratoderma hereditarium mutilans"
* https://www.orpha.net#514 "Acute monoblastic/monocytic leukemia"
* https://www.orpha.net#518 "Acute megakaryoblastic leukemia"
* https://www.orpha.net#521 "Chronic myeloid leukemia"
* https://www.orpha.net#534 "Oculocerebrorenal syndrome of Lowe"
* https://www.orpha.net#545 "Follicular lymphoma"
* https://www.orpha.net#552 "MODY"
* https://www.orpha.net#569 "Familial or sporadic hemiplegic migraine"
* https://www.orpha.net#581 "Mucopolysaccharidosis type 3"
* https://www.orpha.net#588 "Muscle-eye-brain disease"
* https://www.orpha.net#644 "NARP syndrome"
* https://www.orpha.net#649 "Norrie disease"
* https://www.orpha.net#662 "Yellow nail syndrome"
* https://www.orpha.net#674 "Accessory pancreas"
* https://www.orpha.net#679 "Malignant atrophic papulosis"
* https://www.orpha.net#726 "Alpers-Huttenlocher syndrome"
* https://www.orpha.net#729 "Polycythemia vera"
* https://www.orpha.net#731 "Autosomal recessive polycystic kidney disease"
* https://www.orpha.net#734 "Alpha delta granule deficiency"
* https://www.orpha.net#742 "Prolidase deficiency"
* https://www.orpha.net#755 "Leydig cell hypoplasia"
* https://www.orpha.net#760 "Purine nucleoside phosphorylase deficiency"
* https://www.orpha.net#766 "Hemolytic anemia due to red cell pyruvate kinase deficiency"
* https://www.orpha.net#565837 "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23"
* https://www.orpha.net#566857 "Aprosencephaly"
* https://www.orpha.net#567546 "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance"
* https://www.orpha.net#567550 "Idiopathic multidrug-resistant nephrotic syndrome"
* https://www.orpha.net#570438 "HHV-8-associated multicentric Castleman disease"
* https://www.orpha.net#572798 "WARS2-related combined oxidative phosphorylation defect"
* https://www.orpha.net#574918 "Predisposition to severe viral infection due to IRF7 deficiency"
* https://www.orpha.net#576370 "Variant Creutzfeldt-Jakob disease"
* https://www.orpha.net#583097 "Congenital infiltrating lipomatosis of the face"
* https://www.orpha.net#583602 "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency"
* https://www.orpha.net#589515 "PUM1-associated developmental disability-ataxia-seizure syndrome"
* https://www.orpha.net#589542 "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement"
* https://www.orpha.net#592856 "Neuromyelitis optica spectrum disorder with anti-MOG antibodies"
* https://www.orpha.net#596759 "Combined immunodeficiency due to RELA haploinsufficiency"
* https://www.orpha.net#599376 "Hypomyelination of early myelinating structures"
* https://www.orpha.net#599519 "Factor V short isoforms-related bleeding disorder"
* https://www.orpha.net#600984 "Non-syndromic anorectal malformation with rectovesical fistula"
* https://www.orpha.net#603515 "Isolated female hypospadias"
* https://www.orpha.net#611207 "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome"
* https://www.orpha.net#615943 "Granuloma faciale"
* https://www.orpha.net#617916 "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"
* https://www.orpha.net#617930 "Hemophilia B Leyden"
* https://www.orpha.net#619363 "Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18"
* https://www.orpha.net#620186 "Non-syndromic unicoronal and sagittal craniosynostosis"
* https://www.orpha.net#620192 "Non-syndromic metopic and sagittal craniosynostosis"
* https://www.orpha.net#621758 "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome"
* https://www.orpha.net#623695 "MIR140-related spondyloepiphyseal dysplasia"
* https://www.orpha.net#624199 "Non-specific autoimmune brainstem encephalitis with characteristic antibodies"
* https://www.orpha.net#633035 "Intellectual disability-early-onset cataract-microcephaly syndrome"
* https://www.orpha.net#641380 "PAPASH syndrome"
* https://www.orpha.net#641385 "PASS syndrome"
* https://www.orpha.net#642085 "Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type"
* https://www.orpha.net#642763 "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation"
* https://www.orpha.net#645291 "Transitional extramedullary conus spinal cord lipoma"
* https://www.orpha.net#645294 "Posterior extramedullary conus spinal cord lipoma"
* https://www.orpha.net#645322 "Isolated transitional filum lipoma"
* https://www.orpha.net#645354 "Saccular limited dorsal myeloschisis"
* https://www.orpha.net#645401 "True myeloschisis"
* https://www.orpha.net#645807 "Primary tuberculous lymphadenitis"
* https://www.orpha.net#647782 "Isolated micronodular adrenocortical disease"
* https://www.orpha.net#647804 "Combined immunodeficiency due to FCHO1 deficiency"
* https://www.orpha.net#647823 "Idiopathic pregnancy-associated osteoporosis"
* https://www.orpha.net#782 "Axenfeld-Rieger syndrome"
* https://www.orpha.net#806 "Scott syndrome"
* https://www.orpha.net#808 "Seckel syndrome"
* https://www.orpha.net#811 "Shwachman-Diamond syndrome"
* https://www.orpha.net#833 "Encephalopathy due to sulfite oxidase deficiency"
* https://www.orpha.net#838 "Susac syndrome"
* https://www.orpha.net#840 "Syringocystadenoma papilliferum"
* https://www.orpha.net#841 "Sebocystomatosis"
* https://www.orpha.net#867 "Familial multiple trichoepithelioma"
* https://www.orpha.net#894 "Waardenburg syndrome type 1"
* https://www.orpha.net#899 "Walker-Warburg syndrome"
* https://www.orpha.net#908 "Fragile X syndrome"
* https://www.orpha.net#949 "Acrocraniofacial dysostosis"
* https://www.orpha.net#952 "Acrofacial dysostosis, Weyers type"
* https://www.orpha.net#963 "Acromegaly"
* https://www.orpha.net#974 "Adams-Oliver syndrome"
* https://www.orpha.net#978 "ADULT syndrome"
* https://www.orpha.net#988 "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"
* https://www.orpha.net#1000 "Ocular albinism with late-onset sensorineural deafness"
* https://www.orpha.net#1003 "Scalp defects-postaxial polydactyly syndrome"
* https://www.orpha.net#1006 "Alopecia antibody deficiency"
* https://www.orpha.net#1053 "Vein of Galen aneurysmal malformation"
* https://www.orpha.net#1068 "Aniridia-intellectual disability syndrome"
* https://www.orpha.net#1072 "Ankyloblepharon filiforme adnatum-cleft palate syndrome"
* https://www.orpha.net#1116 "Aplasia cutis congenita-intestinal lymphangiectasia syndrome"
* https://www.orpha.net#1118 "Fibular aplasia-ectrodactyly syndrome"
* https://www.orpha.net#1125 "Ocular motor apraxia, Cogan type"
* https://www.orpha.net#1133 "AREDYLD syndrome"
* https://www.orpha.net#1164 "Allergic bronchopulmonary aspergillosis"
* https://www.orpha.net#1183 "Opsoclonus-myoclonus syndrome"
* https://www.orpha.net#1227 "Bangstad syndrome"
* https://www.orpha.net#1264 "Tricho-retino-dento-digital syndrome"
* https://www.orpha.net#1276 "Brachydactyly-arterial hypertension syndrome"
* https://www.orpha.net#1295 "Brachytelephalangy-dysmorphism-Kallmann syndrome"
* https://www.orpha.net#1314 "Symmetrical thalamic calcifications"
* https://www.orpha.net#1321 "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome"
* https://www.orpha.net#1328 "Camurati-Engelmann disease"
* https://www.orpha.net#1373 "Cataract-aberrant oral frenula-growth delay syndrome"
* https://www.orpha.net#1381 "Cataract-intellectual disability-anal atresia-urinary defects syndrome"
* https://www.orpha.net#1456 "Atypical coarctation of aorta"
* https://www.orpha.net#1466 "COFS syndrome"
* https://www.orpha.net#1467 "Cogan syndrome"
* https://www.orpha.net#1478 "Interatrial communication"
* https://www.orpha.net#1482 "Gonococcal conjunctivitis"
* https://www.orpha.net#1487 "Cooks syndrome"
* https://www.orpha.net#1490 "Corneal dystrophy-perceptive deafness syndrome"
* https://www.orpha.net#1522 "Craniometaphyseal dysplasia"
* https://www.orpha.net#1524 "Craniomicromelic syndrome"
* https://www.orpha.net#1541 "Craniosynostosis, Boston type"
* https://www.orpha.net#1563 "Dahlberg-Borer-Newcomer syndrome"
* https://www.orpha.net#1566 "Dandy-Walker malformation-postaxial polydactyly syndrome"
* https://www.orpha.net#1578 "Pterin-4 alpha-carbinolamine dehydratase deficiency"
* https://www.orpha.net#1580 "Distal deletion 10p"
* https://www.orpha.net#1590 "Distal deletion 13q"
* https://www.orpha.net#1667 "Wolcott-Rallison syndrome"
* https://www.orpha.net#1692 "Mosaic trisomy 1"
* https://www.orpha.net#1706 "Mosaic trisomy 15"
* https://www.orpha.net#1707 "Distal duplication 15q"
* https://www.orpha.net#1713 "17p11.2 microduplication syndrome"
* https://www.orpha.net#1768 "Familial caudal dysgenesis"
* https://www.orpha.net#1772 "45,X/46,XY mixed gonadal dysgenesis"
* https://www.orpha.net#1811 "Odontomicronychial dysplasia"
* https://www.orpha.net#1812 "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"
* https://www.orpha.net#1826 "Frontometaphyseal dysplasia"
* https://www.orpha.net#1876 "Oculogastrointestinal muscular dystrophy"
* https://www.orpha.net#1900 "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency"
* https://www.orpha.net#1913 "Fetal trimethadione syndrome"
* https://www.orpha.net#1931 "Frontal encephalocele"
* https://www.orpha.net#1941 "Juvenile absence epilepsy"
* https://www.orpha.net#1942 "Myoclonic-astatic epilepsy"
* https://www.orpha.net#1959 "Evans syndrome"
* https://www.orpha.net#1969 "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome"
* https://www.orpha.net#1986 "Gollop-Wolfgang complex"
* https://www.orpha.net#2003 "Cleft lip/palate-deafness-sacral lipoma syndrome"
* https://www.orpha.net#2008 "Acrocardiofacial syndrome"
* https://www.orpha.net#2020 "Congenital fiber-type disproportion myopathy"
* https://www.orpha.net#2024 "Hereditary gingival fibromatosis"
* https://www.orpha.net#2056 "Essential fructosuria"
* https://www.orpha.net#2072 "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"
* https://www.orpha.net#2073 "Narcolepsy type 1"
* https://www.orpha.net#2090 "GMS syndrome"
* https://www.orpha.net#2095 "Gorlin-Chaudhry-Moss syndrome"
* https://www.orpha.net#2101 "Grubben-de Cock-Borghgraef syndrome"
* https://www.orpha.net#2115 "Harrod syndrome"
* https://www.orpha.net#2118 "Hawkinsinuria"
* https://www.orpha.net#2119 "HEC syndrome"
* https://www.orpha.net#2180 "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome"
* https://www.orpha.net#2203 "Hyperlysinemia"
* https://www.orpha.net#2204 "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type"
* https://www.orpha.net#2218 "Cervical hypertrichosis-peripheral neuropathy syndrome"
* https://www.orpha.net#2230 "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome"
* https://www.orpha.net#2239 "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"
* https://www.orpha.net#2266 "Hypotrichosis-intellectual disability, Lopes type"
* https://www.orpha.net#2272 "Ichthyosis-oral and digital anomalies syndrome"
* https://www.orpha.net#2278 "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome"
* https://www.orpha.net#2295 "Familial articular hypermobility syndrome"
* https://www.orpha.net#2299 "Aortic arch interruption"
* https://www.orpha.net#2315 "Johanson-Blizzard syndrome"
* https://www.orpha.net#2324 "Osteopenia-intellectual disability-sparse hair syndrome"
* https://www.orpha.net#2368 "Gastroschisis"
* https://www.orpha.net#2382 "Lennox-Gastaut syndrome"
* https://www.orpha.net#2390 "Lichtenstein syndrome"
* https://www.orpha.net#2409 "Lowry-MacLean syndrome"
* https://www.orpha.net#2429 "Macrocephaly-spastic paraplegia-dysmorphism syndrome"
* https://www.orpha.net#2435 "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome"
* https://www.orpha.net#2440 "Isolated split hand-split foot malformation"
* https://www.orpha.net#2459 "Mansonelliasis"
* https://www.orpha.net#2464 "Marfanoid syndrome, De Silva type"
* https://www.orpha.net#2470 "Matthew-Wood syndrome"
* https://www.orpha.net#2476 "Dysraphism-cleft lip/palate-limb reduction defects syndrome"
* https://www.orpha.net#2483 "Melkersson-Rosenthal syndrome"
* https://www.orpha.net#2501 "Metaphyseal chondrodysplasia, Spahr type"
* https://www.orpha.net#2512 "Autosomal recessive primary microcephaly"
* https://www.orpha.net#2526 "Microcephaly-lymphedema-chorioretinopathy syndrome"
* https://www.orpha.net#2528 "Microcephaly-microcornea syndrome, Seemanova type"
* https://www.orpha.net#2564 "Tetramelic monodactyly"
* https://www.orpha.net#2566 "Chronic Epstein-Barr virus infection syndrome"
* https://www.orpha.net#2574 "Moynahan syndrome"
* https://www.orpha.net#2589 "Myoclonus-cerebellar ataxia-deafness syndrome"
* https://www.orpha.net#2613 "Nail-patella-like renal disease"
* https://www.orpha.net#2614 "Nail-patella syndrome"
* https://www.orpha.net#2617 "Microcephalic primordial dwarfism, Montreal type"
* https://www.orpha.net#2645 "Osteoglosphonic dysplasia"
* https://www.orpha.net#2662 "Keipert syndrome"
* https://www.orpha.net#2670 "Pierson syndrome"
* https://www.orpha.net#2671 "Neu-Laxova syndrome"
* https://www.orpha.net#2672 "Neuhauser-Eichner-Opitz syndrome"
* https://www.orpha.net#2673 "Neurofaciodigitorenal syndrome"
* https://www.orpha.net#2678 "Familial isolated café-au-lait macules"
* https://www.orpha.net#2695 "Bifid nose"
* https://www.orpha.net#2709 "Oculodental syndrome, Rutherfurd type"
* https://www.orpha.net#2712 "Oculofaciocardiodental syndrome"
* https://www.orpha.net#2800 "Extramammary Paget disease"
* https://www.orpha.net#2805 "Partial pancreatic agenesis"
* https://www.orpha.net#2815 "Spastic paraparesis-deafness syndrome"
* https://www.orpha.net#2818 "Spastic paraplegia-glaucoma-intellectual disability syndrome"
* https://www.orpha.net#2821 "Spastic paraplegia-neuropathy-poikiloderma syndrome"
* https://www.orpha.net#2824 "Paraplegia-intellectual disability-hyperkeratosis syndrome"
* https://www.orpha.net#2836 "PEHO syndrome"
* https://www.orpha.net#2840 "Pelvic dysplasia-arthrogryposis of lower limbs syndrome"
* https://www.orpha.net#2843 "Pentosuria"
* https://www.orpha.net#2847 "Pericardial and diaphragmatic defect"
* https://www.orpha.net#2856 "Persistent Müllerian duct syndrome"
* https://www.orpha.net#2898 "X-linked intellectual disability-plagiocephaly syndrome"
* https://www.orpha.net#2905 "POEMS syndrome"
* https://www.orpha.net#2909 "Rothmund-Thomson syndrome"
* https://www.orpha.net#2921 "Preaxial polydactyly-colobomata-intellectual disability syndrome"
* https://www.orpha.net#2926 "Digital extensor muscle aplasia-polyneuropathy"
* https://www.orpha.net#2940 "Porencephaly"
* https://www.orpha.net#2957 "Guttmacher syndrome"
* https://www.orpha.net#2989 "Familial pterygium of the conjunctiva"
* https://www.orpha.net#2994 "Short stature-craniofacial anomalies-genital hypoplasia syndrome"
* https://www.orpha.net#2997 "Ptosis-vocal cord paralysis syndrome"
* https://www.orpha.net#3015 "Radio-renal syndrome"
* https://www.orpha.net#3021 "RAPADILINO syndrome"
* https://www.orpha.net#3023 "External auditory canal atresia-vertical talus-hypertelorism syndrome"
* https://www.orpha.net#3080 "Intellectual disability, Wolff type"
* https://www.orpha.net#3101 "Richieri Costa-da Silva syndrome"
* https://www.orpha.net#3104 "Robin sequence-oligodactyly syndrome"
* https://www.orpha.net#3111 "Rotor syndrome"
* https://www.orpha.net#3132 "Say-Barber-Miller syndrome"
* https://www.orpha.net#3161 "Congenital pulmonary sequestration"
* https://www.orpha.net#3192 "Supravalvular pulmonary stenosis"
* https://www.orpha.net#3193 "Supravalvular aortic stenosis"
* https://www.orpha.net#3206 "Stüve-Wiedemann syndrome"
* https://www.orpha.net#3217 "Deafness-small bowel diverticulosis-neuropathy syndrome"
* https://www.orpha.net#3220 "Deafness-enamel hypoplasia-nail defects syndrome"
* https://www.orpha.net#3226 "Deafness-lymphedema-leukemia syndrome"
* https://www.orpha.net#3240 "Central nervous system calcification-deafness-tubular acidosis-anemia syndrome"
* https://www.orpha.net#3253 "Cleft lip/palate-ectodermal dysplasia syndrome"
* https://www.orpha.net#3268 "Radioulnar synostosis-microcephaly-scoliosis syndrome"
* https://www.orpha.net#3292 "Tel Hashomer camptodactyly syndrome"
* https://www.orpha.net#3306 "Inverted duplicated chromosome 15 syndrome"
* https://www.orpha.net#3317 "Thoracolaryngopelvic dysplasia"
* https://www.orpha.net#3339 "Toriello-Lacassie-Droste syndrome"
* https://www.orpha.net#3352 "Tricho-dento-osseous syndrome"
* https://www.orpha.net#25968 "Benign occipital epilepsy"
* https://www.orpha.net#28378 "Tyrosinemia type 2"
* https://www.orpha.net#31112 "Dermatofibrosarcoma protuberans"
* https://www.orpha.net#31826 "Ethylene glycol poisoning"
* https://www.orpha.net#33276 "Kaposi sarcoma"
* https://www.orpha.net#33364 "Trichothiodystrophy"
* https://www.orpha.net#33572 "5-oxoprolinase deficiency"
* https://www.orpha.net#34528 "Autosomal dominant primary hypomagnesemia with hypocalciuria"
* https://www.orpha.net#35099 "Non-syndromic bicoronal craniosynostosis"
* https://www.orpha.net#35173 "X-linked dominant chondrodysplasia punctata"
* https://www.orpha.net#35612 "Nanophthalmos"
* https://www.orpha.net#35708 "Aromatic L-amino acid decarboxylase deficiency"
* https://www.orpha.net#35878 "Hyperinsulinism-hyperammonemia syndrome"
* https://www.orpha.net#38874 "Dihydropyrimidinuria"
* https://www.orpha.net#39041 "Omenn syndrome"
* https://www.orpha.net#41751 "Bietti crystalline dystrophy"
* https://www.orpha.net#42665 "Tietz syndrome"
* https://www.orpha.net#45453 "Incessant infant ventricular tachycardia"
* https://www.orpha.net#46488 "Linear IgA dermatosis"
* https://www.orpha.net#47159 "Proximal renal tubular acidosis"
* https://www.orpha.net#48686 "Primary effusion lymphoma"
* https://www.orpha.net#49042 "Dentinogenesis imperfecta"
* https://www.orpha.net#50839 "Cat-scratch disease"
* https://www.orpha.net#52427 "Retinitis punctata albescens"
* https://www.orpha.net#52503 "X-linked creatine transporter deficiency"
* https://www.orpha.net#53698 "Myosin storage myopathy"
* https://www.orpha.net#54028 "Plummer-Vinson syndrome"
* https://www.orpha.net#54368 "Sarcocystosis"
* https://www.orpha.net#55595 "TNP03-related limb-girdle muscular dystrophy D2"
* https://www.orpha.net#55596 "HNRNPDL-related limb-girdle muscular dystrophy D3"
* https://www.orpha.net#55655 "Pneumococcal meningitis"
* https://www.orpha.net#56304 "Atelosteogenesis type II"
* https://www.orpha.net#56425 "Cold agglutinin disease"
* https://www.orpha.net#60015 "Enlarged parietal foramina"
* https://www.orpha.net#63273 "Distal myopathy with posterior leg and anterior hand involvement"
* https://www.orpha.net#64722 "Granulomatous mastitis"
* https://www.orpha.net#65743 "Autosomal dominant multiple pterygium syndrome"
* https://www.orpha.net#66529 "Tako-Tsubo cardiomyopathy"
* https://www.orpha.net#66634 "Dilated cardiomyopathy with ataxia"
* https://www.orpha.net#67038 "B-cell chronic lymphocytic leukemia"
* https://www.orpha.net#67039 "Segmental odontomaxillary dysplasia"
* https://www.orpha.net#67042 "Late-onset retinal degeneration"
* https://www.orpha.net#69076 "Familial renal glucosuria"
* https://www.orpha.net#69085 "Limb-mammary syndrome"
* https://www.orpha.net#69087 "Naegeli-Franceschetti-Jadassohn syndrome"
* https://www.orpha.net#71279 "CANOMAD syndrome"
* https://www.orpha.net#73229 "HANAC syndrome"
* https://www.orpha.net#73230 "Ossification anomalies-psychomotor developmental delay syndrome"
* https://www.orpha.net#73267 "Non-24-hour sleep-wake syndrome"
* https://www.orpha.net#75233 "Wolman disease"
* https://www.orpha.net#75381 "Cystoid macular dystrophy"
* https://www.orpha.net#75508 "Angioosteohypotrophic syndrome"
* https://www.orpha.net#77292 "Infantile neurovisceral acid sphingomyelinase deficiency"
* https://www.orpha.net#77295 "Odontoleukodystrophy"
* https://www.orpha.net#79083 "PPARG-related familial partial lipodystrophy"
* https://www.orpha.net#79118 "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"
* https://www.orpha.net#79129 "Trichodysplasia-amelogenesis imperfecta syndrome"
* https://www.orpha.net#79144 "Isolated congenital onychodysplasia"
* https://www.orpha.net#79145 "Dowling-Degos disease"
* https://www.orpha.net#79149 "Dermochondrocorneal dystrophy"
* https://www.orpha.net#79152 "Disseminated superficial actinic porokeratosis"
* https://www.orpha.net#79235 "Crigler-Najjar syndrome type 2"
* https://www.orpha.net#79244 "Pyruvate dehydrogenase E2 deficiency"
* https://www.orpha.net#79246 "Pyruvate dehydrogenase phosphatase deficiency"
* https://www.orpha.net#79255 "GM1 gangliosidosis type 1"
* https://www.orpha.net#79259 "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"
* https://www.orpha.net#79271 "Sanfilippo syndrome type C"
* https://www.orpha.net#79284 "Methylmalonic acidemia with homocystinuria type cblF"
* https://www.orpha.net#79292 "Fish-eye disease"
* https://www.orpha.net#79303 "Congenital bile acid synthesis defect type 2"
* https://www.orpha.net#79304 "Progressive familial intrahepatic cholestasis type 2"
* https://www.orpha.net#79311 "Vitamin B12-responsive methylmalonic acidemia type cblB"
* https://www.orpha.net#79315 "D-2-hydroxyglutaric aciduria"
* https://www.orpha.net#79325 "ALG8-CDG"
* https://www.orpha.net#79333 "COG7-CDG"
* https://www.orpha.net#79350 "3-phosphoserine phosphatase deficiency, infantile/juvenile form"
* https://www.orpha.net#79400 "Localized epidermolysis bullosa simplex"
* https://www.orpha.net#79405 "Junctional epidermolysis bullosa inversa"
* https://www.orpha.net#79406 "Late-onset junctional epidermolysis bullosa"
* https://www.orpha.net#79411 "Self-improving dystrophic epidermolysis bullosa"
* https://www.orpha.net#79431 "Oculocutaneous albinism type 1A"
* https://www.orpha.net#79433 "Oculocutaneous albinism type 3"
* https://www.orpha.net#79457 "Maculopapular cutaneous mastocytosis"
* https://www.orpha.net#79483 "Phakomatosis cesioflammea"
* https://www.orpha.net#79489 "Macrocystic lymphatic malformation"
* https://www.orpha.net#79643 "Autosomal recessive hyperinsulinism due to SUR1 deficiency"
* https://www.orpha.net#83463 "Microtia"
* https://www.orpha.net#83469 "Desmoplastic small round cell tumor"
* https://www.orpha.net#83472 "CAMOS syndrome"
* https://www.orpha.net#83473 "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"
* https://www.orpha.net#83482 "Mycoplasma encephalitis"
* https://www.orpha.net#83595 "Colorado tick fever"
* https://www.orpha.net#83597 "Acute disseminated encephalomyelitis"
* https://www.orpha.net#83629 "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"
* https://www.orpha.net#84065 "Idiopathic malabsorption due to bile acid synthesis defects"
* https://www.orpha.net#84085 "Hinman syndrome"
* https://www.orpha.net#84087 "Collagen type III glomerulopathy"
* https://www.orpha.net#85146 "Neurogenic scapuloperoneal syndrome, Kaeser type"
* https://www.orpha.net#85169 "Familial digital arthropathy-brachydactyly"
* https://www.orpha.net#85195 "Familial expansile osteolysis"
* https://www.orpha.net#85294 "X-linked epilepsy-learning disabilities-behavior disorders syndrome"
* https://www.orpha.net#85295 "HSD10 disease, atypical type"
* https://www.orpha.net#85323 "X-linked intellectual disability, Seemanova type"
* https://www.orpha.net#85326 "X-linked intellectual disability, Stoll type"
* https://www.orpha.net#85408 "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis"
* https://www.orpha.net#85410 "Oligoarticular juvenile idiopathic arthritis"
* https://www.orpha.net#85442 "Short stature-pituitary and cerebellar defects-small sella turcica syndrome"
* https://www.orpha.net#86789 "Patella aplasia/hypoplasia"
* https://www.orpha.net#86814 "Benign adult familial myoclonic epilepsy"
* https://www.orpha.net#86829 "Chronic neutrophilic leukemia"
* https://www.orpha.net#86864 "Heavy chain disease"
* https://www.orpha.net#86873 "Aggressive NK-cell leukemia"
* https://www.orpha.net#86875 "Adult T-cell leukemia/lymphoma"
* https://www.orpha.net#87503 "Mal de Meleda"
* https://www.orpha.net#88620 "Isolated congenital anosmia"
* https://www.orpha.net#88629 "Tritanopia"
* https://www.orpha.net#88642 "Congenital insensitivity to pain-anosmia-neuropathic arthropathy"
* https://www.orpha.net#88659 "Autosomal dominant progressive nephropathy with hypertension"
* https://www.orpha.net#89844 "Lissencephaly syndrome, Norman-Roberts type"
* https://www.orpha.net#90001 "X-linked cone dysfunction syndrome with myopia"
* https://www.orpha.net#90030 "Hemolytic anemia due to glutathione reductase deficiency"
* https://www.orpha.net#90051 "Sepsis in premature infants"
* https://www.orpha.net#90291 "Systemic sclerosis"
* https://www.orpha.net#90308 "Klippel-Trénaunay syndrome"
* https://www.orpha.net#90348 "Autosomal dominant cutis laxa"
* https://www.orpha.net#90349 "Autosomal recessive cutis laxa type 1"
* https://www.orpha.net#90393 "Nodular lichen myxedematosus"
* https://www.orpha.net#90397 "Self-healing papular mucinosis"
* https://www.orpha.net#90641 "Rare mitochondrial non-syndromic sensorineural deafness"
* https://www.orpha.net#90654 "Stickler syndrome type 2"
* https://www.orpha.net#90658 "Charcot-Marie-Tooth disease type 1E"
* https://www.orpha.net#91411 "Congenital ptosis"
* https://www.orpha.net#91414 "Pilomatrixoma"
* https://www.orpha.net#91481 "Ring dermoid of cornea"
* https://www.orpha.net#91489 "Isolated congenital megalocornea"
* https://www.orpha.net#91490 "Isolated congenital sclerocornea"
* https://www.orpha.net#91498 "Familial congenital palsy of trochlear nerve"
* https://www.orpha.net#91546 "Lyme disease"
* https://www.orpha.net#93110 "Posterior urethral valve"
* https://www.orpha.net#93160 "Hypocalcemic vitamin D-resistant rickets"
* https://www.orpha.net#93173 "Renal dysplasia, bilateral"
* https://www.orpha.net#93262 "Crouzon syndrome-acanthosis nigricans syndrome"
* https://www.orpha.net#93296 "Achondrogenesis type 2"
* https://www.orpha.net#93320 "Ulnar hemimelia"
* https://www.orpha.net#93338 "Polysyndactyly"
* https://www.orpha.net#93352 "Spondyloepimetaphyseal dysplasia, Shohat type"
* https://www.orpha.net#93356 "Spondyloepimetaphyseal dysplasia, Missouri type"
* https://www.orpha.net#93387 "Brachydactyly type E"
* https://www.orpha.net#93394 "Brachydactyly type A4"
* https://www.orpha.net#93568 "Juvenile polymyositis"
* https://www.orpha.net#93583 "Congenital thrombotic thrombocytopenic purpura"
* https://www.orpha.net#93606 "Nephrogenic syndrome of inappropriate antidiuresis"
* https://www.orpha.net#93607 "Autosomal recessive proximal renal tubular acidosis"
* https://www.orpha.net#93610 "Distal renal tubular acidosis with anemia"
* https://www.orpha.net#93945 "X-linked intellectual disability, Porteous type"
* https://www.orpha.net#94080 "Non-functioning paraganglioma"
* https://www.orpha.net#95428 "COG8-CDG"
* https://www.orpha.net#95448 "Congenital aortic valve atresia"
* https://www.orpha.net#95457 "Tricuspid valve agenesis"
* https://www.orpha.net#95486 "Premature closure of the arterial duct"
* https://www.orpha.net#95496 "Pituitary stalk interruption syndrome"
* https://www.orpha.net#95626 "Acquired central diabetes insipidus"
* https://www.orpha.net#95702 "X-linked adrenal hypoplasia congenita"
* https://www.orpha.net#95706 "Non-syndromic posterior hypospadias"
* https://www.orpha.net#96061 "Mosaic trisomy 8"
* https://www.orpha.net#96070 "Distal duplication 2p"
* https://www.orpha.net#96074 "Distal duplication 7p"
* https://www.orpha.net#96098 "Distal duplication 6q"
* https://www.orpha.net#96123 "Monosomy 22"
* https://www.orpha.net#96167 "Recombinant 8 syndrome"
* https://www.orpha.net#96183 "Maternal uniparental disomy of chromosome 9"
* https://www.orpha.net#96186 "Maternal uniparental disomy of chromosome 20"
* https://www.orpha.net#96192 "Paternal uniparental disomy of chromosome 7"
* https://www.orpha.net#96195 "Paternal uniparental disomy of chromosome 21"
* https://www.orpha.net#96264 "49,XXXXY syndrome"
* https://www.orpha.net#97285 "Thyroid lymphoma"
* https://www.orpha.net#97292 "Cardiogenic shock"
* https://www.orpha.net#97337 "Sinding-Larsen-Johansson disease"
* https://www.orpha.net#97340 "Hunter-McAlpine syndrome"
* https://www.orpha.net#97364 "Bilateral multicystic dysplastic kidney"
* https://www.orpha.net#97548 "Right sided atrial isomerism"
* https://www.orpha.net#97685 "17q11 microdeletion syndrome"
* https://www.orpha.net#98676 "Autosomal recessive isolated optic atrophy"
* https://www.orpha.net#98758 "Spinocerebellar ataxia type 6"
* https://www.orpha.net#98763 "Spinocerebellar ataxia type 14"
* https://www.orpha.net#98768 "Spinocerebellar ataxia type 13"
* https://www.orpha.net#98772 "Spinocerebellar ataxia type 19/22"
* https://www.orpha.net#98795 "Angelman syndrome due to paternal uniparental disomy of chromosome 15"
* https://www.orpha.net#98809 "Paroxysmal kinesigenic dyskinesia"
* https://www.orpha.net#98810 "Paroxysmal non-kinesigenic dyskinesia"
* https://www.orpha.net#98829 "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"
* https://www.orpha.net#98852 "Desquamative interstitial pneumonia"
* https://www.orpha.net#98893 "Congenital muscular dystrophy type 1B"
* https://www.orpha.net#98895 "Becker muscular dystrophy"
* https://www.orpha.net#98904 "Congenital myopathy with excess of thin filaments"
* https://www.orpha.net#98919 "Miller Fisher syndrome"
* https://www.orpha.net#98920 "Spinal muscular atrophy with respiratory distress type 1"
* https://www.orpha.net#98946 "Coloboma of eyelid"
* https://www.orpha.net#98973 "Posterior polymorphous corneal dystrophy"
* https://www.orpha.net#99046 "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect"
* https://www.orpha.net#99048 "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome"
* https://www.orpha.net#99051 "Discrete fixed membranous subaortic stenosis"
* https://www.orpha.net#99055 "Congenital anomaly of the tricuspid valve chordae"
* https://www.orpha.net#99056 "Parachute tricuspid valve"
* https://www.orpha.net#99059 "Congenital supravalvular mitral ring"
* https://www.orpha.net#99060 "Congenital unguarded mitral orifice"
* https://www.orpha.net#99067 "Complete atrioventricular septal defect with ventricular hypoplasia"
* https://www.orpha.net#99075 "Encircling double aortic arch"
* https://www.orpha.net#99103 "Atrial septal defect, ostium secundum type"
* https://www.orpha.net#99106 "Atrial septal defect, ostium primum type"
* https://www.orpha.net#99109 "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium"
* https://www.orpha.net#99126 "Congenital pulmonary vein atresia"
* https://www.orpha.net#99135 "6-phosphogluconate dehydrogenase deficiency"
* https://www.orpha.net#99170 "Tarsal kink syndrome"
* https://www.orpha.net#99172 "Euryblepharon"
* https://www.orpha.net#99657 "Primary dystonia, DYT2 type"
* https://www.orpha.net#99735 "Myotonia permanens"
* https://www.orpha.net#99741 "King-Denborough syndrome"
* https://www.orpha.net#99742 "Amish lethal microcephaly"
* https://www.orpha.net#99771 "Bifid uvula"
* https://www.orpha.net#99797 "Anodontia"
* https://www.orpha.net#99818 "Turcot syndrome with polyposis"
* https://www.orpha.net#99826 "Marburg hemorrhagic fever"
* https://www.orpha.net#99832 "Resistance to thyrotropin-releasing hormone syndrome"
* https://www.orpha.net#99845 "Genetic recurrent myoglobinuria"
* https://www.orpha.net#99868 "Thymic carcinoma"
* https://www.orpha.net#99869 "Thymic neuroendocrine carcinoma"
* https://www.orpha.net#99916 "Malignant Sertoli-Leydig cell tumor of the ovary"
* https://www.orpha.net#99931 "Idiopathic pulmonary hemosiderosis"
* https://www.orpha.net#99941 "Autosomal dominant Charcot-Marie-Tooth disease type 2G"
* https://www.orpha.net#99942 "Autosomal dominant Charcot-Marie-Tooth disease type 2I"
* https://www.orpha.net#99946 "Autosomal dominant Charcot-Marie-Tooth disease type 2A1"
* https://www.orpha.net#99949 "Charcot-Marie-Tooth disease type 4C"
* https://www.orpha.net#99954 "Charcot-Marie-Tooth disease type 4H"
* https://www.orpha.net#100003 "Intraneural perineurioma"
* https://www.orpha.net#100032 "Hypocalcified amelogenesis imperfecta"
* https://www.orpha.net#100057 "Renin-angiotensin-aldosterone system-blocker-induced angioedema"
* https://www.orpha.net#100071 "Mosaic trisomy 3"
* https://www.orpha.net#100078 "Ileal neuroendocrine tumor"
* https://www.orpha.net#100079 "Neuroendocrine neoplasm of appendix"
* https://www.orpha.net#100082 "Neuroendocrine tumor of anal canal"
* https://www.orpha.net#100093 "Carcinoid syndrome"
* https://www.orpha.net#101011 "Autosomal dominant spastic paraplegia type 31"
* https://www.orpha.net#101028 "Transaldolase deficiency"
* https://www.orpha.net#101046 "Autosomal dominant epilepsy with auditory features"
* https://www.orpha.net#101049 "Familial hypocalciuric hypercalcemia type 2"
* https://www.orpha.net#101063 "Situs inversus totalis"
* https://www.orpha.net#101085 "Charcot-Marie-Tooth disease type 1F"
* https://www.orpha.net#101110 "Spinocerebellar ataxia type 20"
* https://www.orpha.net#104076 "Leiomyosarcoma of small intestine"
* https://www.orpha.net#137602 "Corneal endotheliitis"
* https://www.orpha.net#137605 "Legius syndrome"
* https://www.orpha.net#137667 "Capillary malformation-arteriovenous malformation"
* https://www.orpha.net#137686 "Asherman syndrome"
* https://www.orpha.net#137814 "Macular amyloidosis"
* https://www.orpha.net#137831 "X-linked intellectual disability-cerebellar hypoplasia syndrome"
* https://www.orpha.net#137867 "Madras motor neuron disease"
* https://www.orpha.net#137908 "Hypotonia with lactic acidemia and hyperammonemia"
* https://www.orpha.net#137917 "Choanal atresia, unilateral"
* https://www.orpha.net#139402 "Drug reaction with eosinophilia and systemic symptoms"
* https://www.orpha.net#139547 "Distal spinal muscular atrophy type 3"
* https://www.orpha.net#140436 "Primary intraosseous venous malformation"
* https://www.orpha.net#140944 "CLOVES syndrome"
* https://www.orpha.net#140963 "Bilateral microtia-deafness-cleft palate syndrome"
* https://www.orpha.net#140989 "Primary angiitis of the central nervous system"
* https://www.orpha.net#141077 "Epignathus"
* https://www.orpha.net#141096 "Supernumerary nostril"
* https://www.orpha.net#141118 "Nasal encephalocele"
* https://www.orpha.net#141127 "Congenital tracheal stenosis"
* https://www.orpha.net#141239 "Median cleft of the upper lip and maxilla"
* https://www.orpha.net#141333 "Biemond syndrome type 2"
* https://www.orpha.net#155838 "Pinnae fistula or cyst"
* https://www.orpha.net#155884 "Coloboma of superior eyelid"
* https://www.orpha.net#156728 "Spondyloepimetaphyseal dysplasia, matrilin-3 type"
* https://www.orpha.net#157798 "Serrated polyposis syndrome"
* https://www.orpha.net#157808 "Congenital pseudoarthrosis of the limbs"
* https://www.orpha.net#157826 "Congenital epulis"
* https://www.orpha.net#157832 "Craniorhiny"
* https://www.orpha.net#157846 "Neuroferritinopathy"
* https://www.orpha.net#157962 "Oculoauricular syndrome, Schorderet type"
* https://www.orpha.net#157965 "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome"
* https://www.orpha.net#157997 "Benign cephalic histiocytosis"
* https://www.orpha.net#158014 "Rosaï-Dorfman disease"
* https://www.orpha.net#158048 "Hemophagocytic syndrome associated with an infection"
* https://www.orpha.net#158775 "Smoldering systemic mastocytosis"
* https://www.orpha.net#163699 "Alveolar soft tissue sarcoma"
* https://www.orpha.net#163931 "Acrodermatitis continua of Hallopeau"
* https://www.orpha.net#163934 "Atopic keratoconjunctivitis"
* https://www.orpha.net#165991 "Exercise-induced hyperinsulinism"
* https://www.orpha.net#166073 "Pontocerebellar hypoplasia type 6"
* https://www.orpha.net#166119 "Isolated osteopoikilosis"
* https://www.orpha.net#166260 "Dentinogenesis imperfecta type 2"
* https://www.orpha.net#166308 "Benign infantile focal epilepsy with midline spikes and waves during sleep"
* https://www.orpha.net#166415 "Audiogenic seizures"
* https://www.orpha.net#168454 "Spondyloepimetaphyseal dysplasia, Geneviève type"
* https://www.orpha.net#168544 "Spondylometaphyseal dysplasia, Golden type"
* https://www.orpha.net#168601 "Congenital enteropathy due to enteropeptidase deficiency"
* https://www.orpha.net#168612 "Congenital deficiency in alpha-fetoprotein"
* https://www.orpha.net#168984 "CLAPO syndrome"
* https://www.orpha.net#169085 "Susceptibility to respiratory infections associated with CD8alpha chain mutation"
* https://www.orpha.net#169110 "Immunoglobulin heavy chain deficiency"
* https://www.orpha.net#169799 "Mild hemophilia B"
* https://www.orpha.net#171220 "Rectal duplication"
* https://www.orpha.net#171433 "Intermediate nemaline myopathy"
* https://www.orpha.net#171442 "Adult-onset nemaline myopathy"
* https://www.orpha.net#171680 "Lissencephaly due to TUBA1A mutation"
* https://www.orpha.net#171719 "Cutis laxa-Marfanoid syndrome"
* https://www.orpha.net#171723 "White sponge nevus"
* https://www.orpha.net#178311 "Isolated sternocostoclavicular hyperostosis"
* https://www.orpha.net#178364 "Syndromic microphthalmia type 5"
* https://www.orpha.net#178461 "X-linked myopathy with postural muscle atrophy"
* https://www.orpha.net#178522 "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma"
* https://www.orpha.net#179490 "Obesity due to congenital leptin resistance"
* https://www.orpha.net#180074 "True unicornuate uterus"
* https://www.orpha.net#180129 "Partial septate uterus"
* https://www.orpha.net#180154 "Septate vagina"
* https://www.orpha.net#180157 "Longitudinal vaginal septum"
* https://www.orpha.net#180160 "Transverse vaginal septum"
* https://www.orpha.net#180176 "Familial juvenile hypertrophy of the breast"
* https://www.orpha.net#180267 "Giant adenofibroma of the breast"
* https://www.orpha.net#180275 "Paget disease of the nipple"
* https://www.orpha.net#189466 "Familial isolated hypoparathyroidism due to impaired PTH secretion"
* https://www.orpha.net#199293 "Congenital microgastria"
* https://www.orpha.net#199340 "Muscular dystrophy, Selcen type"
* https://www.orpha.net#199343 "EAST syndrome"
* https://www.orpha.net#199647 "Isolated encephalocele"
* https://www.orpha.net#206443 "Late-infantile/juvenile Krabbe disease"
* https://www.orpha.net#206489 "Malignant germ cell tumor of the vagina"
* https://www.orpha.net#209341 "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
* https://www.orpha.net#209970 "Episodic ataxia type 7"
* https://www.orpha.net#210115 "Sterile multifocal osteomyelitis with periostitis and pustulosis"
* https://www.orpha.net#210133 "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"
* https://www.orpha.net#210159 "Adult hepatocellular carcinoma"
* https://www.orpha.net#210548 "Macrocephaly-intellectual disability-autism syndrome"
* https://www.orpha.net#210584 "Spindle cell hemangioma"
* https://www.orpha.net#213802 "Rhabdomyosarcoma of the cervix uteri"
* https://www.orpha.net#216828 "Osteogenesis imperfecta type 5"
* https://www.orpha.net#217008 "Bockenheimer syndrome"
* https://www.orpha.net#217059 "Isolated congenital digital clubbing"
* https://www.orpha.net#217085 "Mucopolysaccharidosis type 2, severe form"
* https://www.orpha.net#217330 "REN-related autosomal dominant tubulointerstitial kidney disease"
* https://www.orpha.net#217467 "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"
* https://www.orpha.net#220493 "Joubert syndrome with ocular defect"
* https://www.orpha.net#221098 "Glossopharyngeal neuralgia"
* https://www.orpha.net#226316 "Genetic transient congenital hypothyroidism"
* https://www.orpha.net#227976 "Autosomal recessive optic atrophy, OPA7 type"
* https://www.orpha.net#227990 "Autoimmune polyendocrinopathy type 4"
* https://www.orpha.net#228165 "Baló concentric sclerosis"
* https://www.orpha.net#228169 "Autosomal dominant striatal neurodegeneration"
* https://www.orpha.net#228337 "CLN10 disease"
* https://www.orpha.net#228426 "Syndromic multisystem autoimmune disease due to Itch deficiency"
* https://www.orpha.net#229717 "Isolated agammaglobulinemia"
* https://www.orpha.net#230800 "Toxin-mediated infectious botulism"
* https://www.orpha.net#230839 "Classical-like Ehlers-Danlos syndrome type 1"
* https://www.orpha.net#231147 "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"
* https://www.orpha.net#231500 "Hermansky-Pudlak syndrome due to BLOC-3 deficiency"
* https://www.orpha.net#231580 "Primary unilateral adrenal hyperplasia"
* https://www.orpha.net#231736 "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome"
* https://www.orpha.net#238459 "SLC35A1-CDG"
* https://www.orpha.net#238475 "Familial hypercholanemia"
* https://www.orpha.net#238578 "Familial clubfoot due to 17q23.1q23.2 microduplication"
* https://www.orpha.net#238650 "Congenital primary megaureter, refluxing form"
* https://www.orpha.net#238654 "Congenital primary megaureter, nonrefluxing and unobstructed form"
* https://www.orpha.net#240760 "Nijmegen breakage syndrome-like disorder"
* https://www.orpha.net#244275 "De novo thrombotic microangiopathy after kidney transplantation"
* https://www.orpha.net#247203 "Collecting duct carcinoma"
* https://www.orpha.net#247585 "Citrullinemia type II"
* https://www.orpha.net#247651 "Infantile hypophosphatasia"
* https://www.orpha.net#247718 "Inflammatory myopathy with abundant macrophages"
* https://www.orpha.net#247790 "FTH1-related iron overload"
* https://www.orpha.net#248408 "Familial hypodysfibrinogenemia"
* https://www.orpha.net#250831 "Logopenic progressive aphasia"
* https://www.orpha.net#251014 "2q31.1 microdeletion syndrome"
* https://www.orpha.net#251066 "8p11.2 deletion syndrome"
* https://www.orpha.net#251325 "Drug-induced vasculitis"
* https://www.orpha.net#251589 "Anaplastic astrocytoma"
* https://www.orpha.net#251598 "Protoplasmic astrocytoma"
* https://www.orpha.net#251646 "Anaplastic ependymoma"
* https://www.orpha.net#251863 "Desmoplastic/nodular medulloblastoma"
* https://www.orpha.net#251912 "Pineocytoma"
* https://www.orpha.net#251992 "Ganglioneuroma"
* https://www.orpha.net#252015 "Choriocarcinoma of the central nervous system"
* https://www.orpha.net#252031 "Diffuse leptomeningeal melanocytosis"
* https://www.orpha.net#252183 "Neurofibroma"
* https://www.orpha.net#254411 "Annular atrophic lichen planus"
* https://www.orpha.net#254492 "Frontal fibrosing alopecia"
* https://www.orpha.net#254704 "Genetic hyperferritinemia without iron overload"
* https://www.orpha.net#254854 "Pure mitochondrial myopathy"
* https://www.orpha.net#254886 "Autosomal recessive progressive external ophthalmoplegia"
* https://www.orpha.net#254930 "Combined oxidative phosphorylation defect type 7"
* https://www.orpha.net#255235 "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"
* https://www.orpha.net#261183 "15q11.2 microdeletion syndrome"
* https://www.orpha.net#261229 "14q11.2 microduplication syndrome"
* https://www.orpha.net#261257 "Distal 17p13.3 microdeletion syndrome"
* https://www.orpha.net#261311 "20q13.33 microdeletion syndrome"
* https://www.orpha.net#261483 "Xq27.3q28 duplication syndrome"
* https://www.orpha.net#261619 "Alagille syndrome due to a JAG1 point mutation"
* https://www.orpha.net#263482 "Spondyloepiphyseal dysplasia, Maroteaux type"
* https://www.orpha.net#268129 "Spheroid body myopathy"
* https://www.orpha.net#268322 "Hereditary thrombocytopenia with normal platelets"
* https://www.orpha.net#268936 "Isolated arhinencephaly"
* https://www.orpha.net#269206 "Isolated total cerebellar vermis agenesis"
* https://www.orpha.net#269215 "Isolated Dandy-Walker malformation without hydrocephalus"
* https://www.orpha.net#275543 "L1 syndrome"
* https://www.orpha.net#276234 "Non-syndromic male infertility due to sperm motility disorder"
* https://www.orpha.net#276422 "10q22.3q23.3 microduplication syndrome"
* https://www.orpha.net#279888 "Acute endophthalmitis"
* https://www.orpha.net#279904 "Primary intraocular lymphoma"
* https://www.orpha.net#279919 "Infectious posterior uveitis"
* https://www.orpha.net#280068 "Visceral calciphylaxis"
* https://www.orpha.net#280282 "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"
* https://www.orpha.net#280406 "Familial steroid-resistant nephrotic syndrome with sensorineural deafness"
* https://www.orpha.net#280598 "Hereditary sensorimotor neuropathy with hyperelastic skin"
* https://www.orpha.net#280628 "Familial progressive hyper- and hypopigmentation"
* https://www.orpha.net#280633 "Multiple congenital anomalies-hypotonia-seizures syndrome"
* https://www.orpha.net#280654 "Autosomal recessive nail dysplasia"
* https://www.orpha.net#280821 "Communicating congenital bronchopulmonary-foregut malformation"
* https://www.orpha.net#284149 "Craniosynostosis-dental anomalies"
* https://www.orpha.net#284417 "Phosphoserine aminotransferase deficiency, infantile/juvenile form"
* https://www.orpha.net#284460 "Acute annular outer retinopathy"
* https://www.orpha.net#289362 "Non-central nervous system-localized embryonal carcinoma"
* https://www.orpha.net#289465 "Isolated congenital adermatoglyphia"
* https://www.orpha.net#289504 "Combined malonic and methylmalonic acidemia"
* https://www.orpha.net#289539 "BAP1-related tumor predisposition syndrome"
* https://www.orpha.net#289560 "Mitochondrial membrane protein-associated neurodegeneration"
* https://www.orpha.net#293165 "Skin fragility-woolly hair-palmoplantar keratoderma syndrome"
* https://www.orpha.net#293208 "Celiac artery compression syndrome"
* https://www.orpha.net#293633 "PYCR1-related De Barsy syndrome"
* https://www.orpha.net#293707 "Blepharophimosis-intellectual disability syndrome, MKB type"
* https://www.orpha.net#293812 "Fixed drug eruption"
* https://www.orpha.net#293822 "MITF-related melanoma and renal cell carcinoma predisposition syndrome"
* https://www.orpha.net#293899 "Familial isolated arrhythmogenic ventricular dysplasia, biventricular form"
* https://www.orpha.net#293910 "Familial isolated arrhythmogenic ventricular dysplasia, right dominant form"
* https://www.orpha.net#293964 "Hypoinsulinemic hypoglycemia and body hemihypertrophy"
* https://www.orpha.net#294988 "Congenital hypoplasia of thumb"
* https://www.orpha.net#295014 "Familial isolated clinodactyly of fingers"
* https://www.orpha.net#295022 "Congenital pseudoarthrosis of the fibula"
* https://www.orpha.net#295024 "Congenital pseudoarthrosis of the radius"
* https://www.orpha.net#295215 "Humero-ulnar synostosis, bilateral"
* https://www.orpha.net#295227 "Congenital elbow dislocation, bilateral"
* https://www.orpha.net#295232 "Congenital genu flexum"
* https://www.orpha.net#300373 "X-linked acrogigantism"
* https://www.orpha.net#300552 "Follicular cholangitis and pancreatitis"
* https://www.orpha.net#300849 "Diffuse large B-cell lymphoma of the central nervous system"
* https://www.orpha.net#300857 "T-cell/histiocyte rich large B cell lymphoma"
* https://www.orpha.net#300865 "Primary cutaneous anaplastic large cell lymphoma"
* https://www.orpha.net#306516 "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis"
* https://www.orpha.net#306553 "Myospherulosis"
* https://www.orpha.net#307936 "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome"
* https://www.orpha.net#308655 "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"
* https://www.orpha.net#309252 "Atypical Gaucher disease due to saposin C deficiency"
* https://www.orpha.net#313892 "Developmental and speech delay due to SOX5 deficiency"
* https://www.orpha.net#314022 "Gastric adenocarcinoma and proximal polyposis of the stomach"
* https://www.orpha.net#314029 "High bone mass osteogenesis imperfecta"
* https://www.orpha.net#314034 "7p22.1 microduplication syndrome"
* https://www.orpha.net#314051 "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"
* https://www.orpha.net#314373 "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity"
* https://www.orpha.net#314376 "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"
* https://www.orpha.net#314381 "Hereditary sensory and autonomic neuropathy type 6"
* https://www.orpha.net#314394 "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"
* https://www.orpha.net#314399 "Autosomal dominant aplasia and myelodysplasia"
* https://www.orpha.net#314451 "Meigs syndrome"
* https://www.orpha.net#314478 "Ovarian fibrothecoma"
* https://www.orpha.net#314566 "Primary progressive apraxia of speech"
* https://www.orpha.net#314621 "Duplication of the pituitary gland"
* https://www.orpha.net#314637 "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"
* https://www.orpha.net#314769 "Somatomammotropinoma"
* https://www.orpha.net#314795 "SHOX-related short stature"
* https://www.orpha.net#314918 "Mild Canavan disease"
* https://www.orpha.net#314993 "Cataract-congenital heart disease-neural tube defect syndrome"
* https://www.orpha.net#317428 "Combined immunodeficiency due to ORAI1 deficiency"
* https://www.orpha.net#319192 "Diencephalic-mesencephalic junction dysplasia"
* https://www.orpha.net#319205 "Bilateral massive adrenal hemorrhage"
* https://www.orpha.net#319218 "Ebola hemorrhagic fever"
* https://www.orpha.net#319276 "Clear cell renal carcinoma"
* https://www.orpha.net#319509 "Combined oxidative phosphorylation defect type 9"
* https://www.orpha.net#319519 "Combined oxidative phosphorylation defect type 14"
* https://www.orpha.net#319574 "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"
* https://www.orpha.net#319635 "Amyloidosis cutis dyschromia"
* https://www.orpha.net#319646 "PGM1-CDG"
* https://www.orpha.net#319675 "Microcephalic primordial dwarfism, Dauber type"
* https://www.orpha.net#320396 "Autosomal recessive spastic paraplegia type 45"
* https://www.orpha.net#320406 "Spastic paraplegia-optic atrophy-neuropathy syndrome"
* https://www.orpha.net#324422 "ALG13-CDG"
* https://www.orpha.net#324525 "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation"
* https://www.orpha.net#324604 "Classic multiminicore myopathy"
* https://www.orpha.net#324723 "ABeta amyloidosis, Arctic type"
* https://www.orpha.net#325345 "46,XY ovotesticular difference of sex development"
* https://www.orpha.net#325529 "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"
* https://www.orpha.net#329195 "Developmental delay with autism spectrum disorder and gait instability"
* https://www.orpha.net#330064 "Chronic actinic dermatitis"
* https://www.orpha.net#352596 "Progressive myoclonic epilepsy with dystonia"
* https://www.orpha.net#352629 "16q24.1 microdeletion syndrome"
* https://www.orpha.net#352675 "X-linked Charcot-Marie-Tooth disease type 6"
* https://www.orpha.net#352731 "Oculocutaneous albinism type 1"
* https://www.orpha.net#353217 "Epileptic encephalopathy with global cerebral demyelination"
* https://www.orpha.net#353281 "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
* https://www.orpha.net#353351 "Idiopathic macular telangiectasia type 3"
* https://www.orpha.net#357034 "Non-hereditary retinoblastoma"
* https://www.orpha.net#357043 "Amyotrophic lateral sclerosis type 4"
* https://www.orpha.net#357058 "Autosomal recessive cutis laxa type 2A"
* https://www.orpha.net#357220 "Primary essential cutis verticis gyrata"
* https://www.orpha.net#363417 "Temtamy preaxial brachydactyly syndrome"
* https://www.orpha.net#363741 "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"
* https://www.orpha.net#363969 "Autosomal recessive cerebral atrophy"
* https://www.orpha.net#364013 "Immune hydrops fetalis"
* https://www.orpha.net#364043 "ALK-positive large B-cell lymphoma"
* https://www.orpha.net#369897 "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"
* https://www.orpha.net#369929 "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome"
* https://www.orpha.net#370052 "SCALP syndrome"
* https://www.orpha.net#370109 "Ataxia-telangiectasia variant"
* https://www.orpha.net#370927 "SSR4-CDG"
* https://www.orpha.net#391343 "Fatal post-viral neurodegenerative disorder"
* https://www.orpha.net#391372 "Intellectual disability-severe speech delay-mild dysmorphism syndrome"
* https://www.orpha.net#391392 "Familial episodic pain syndrome with predominantly lower limb involvement"
* https://www.orpha.net#391641 "Feingold syndrome type 1"
* https://www.orpha.net#397725 "COASY protein-associated neurodegeneration"
* https://www.orpha.net#397937 "Polyglucosan body myopathy type 1"
* https://www.orpha.net#398097 "Neonatal antiphospholipid syndrome"
* https://www.orpha.net#398127 "Neonatal scleroderma"
* https://www.orpha.net#399096 "Distal anoctaminopathy"
* https://www.orpha.net#399307 "Idiopathic avascular necrosis"
* https://www.orpha.net#401942 "Familial median cleft of the upper and lower lips"
* https://www.orpha.net#401986 "1p31p32 microdeletion syndrome"
* https://www.orpha.net#404440 "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"
* https://www.orpha.net#404463 "Multisystemic smooth muscle dysfunction syndrome"
* https://www.orpha.net#404466 "Female infertility due to zona pellucida defect"
* https://www.orpha.net#404493 "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"
* https://www.orpha.net#411527 "Central retinal vein occlusion"
* https://www.orpha.net#411536 "Mild phosphoribosylpyrophosphate synthetase superactivity"
* https://www.orpha.net#411593 "Insulin autoimmune syndrome"
* https://www.orpha.net#420556 "Visual snow syndrome"
* https://www.orpha.net#420686 "Woolly hair-palmoplantar keratoderma syndrome"
* https://www.orpha.net#424019 "Squamous cell carcinoma of the anal canal"
* https://www.orpha.net#424027 "Progressive myoclonic epilepsy type 8"
* https://www.orpha.net#424261 "TOR1AIP1-related limb-girdle muscular dystrophy"
* https://www.orpha.net#424943 "Adenocarcinoma of the liver and intrahepatic biliary tract"
* https://www.orpha.net#424991 "Adenocarcinoma of the gallbladder and extrahepatic biliary tract"
* https://www.orpha.net#431341 "Patent urachus"
* https://www.orpha.net#434179 "Orofaciodigital syndrome type 14"
* https://www.orpha.net#438117 "Steel syndrome"
* https://www.orpha.net#438279 "Human infection by orthopoxvirus"
* https://www.orpha.net#439762 "Systemic polyarteritis nodosa"
* https://www.orpha.net#439881 "Plastic bronchitis"
* https://www.orpha.net#440437 "Familial colorectal cancer Type X"
* https://www.orpha.net#440731 "L-ferritin deficiency"
* https://www.orpha.net#443159 "Lymphoplasmacytic lymphoma without IgM production"
* https://www.orpha.net#443162 "NDE1-related microhydranencephaly"
* https://www.orpha.net#443192 "Classic stiff person syndrome"
* https://www.orpha.net#443291 "HIV-associated cancer"
* https://www.orpha.net#443804 "Focal stiff limb syndrome"
* https://www.orpha.net#443995 "Mandibulofacial dysostosis with alopecia"
* https://www.orpha.net#444048 "46,XX ovarian dysgenesis-short stature syndrome"
* https://www.orpha.net#444051 "20q11.2 microdeletion syndrome"
* https://www.orpha.net#444072 "Cerebellar-facial-dental syndrome"
* https://www.orpha.net#444316 "Idiopathic phalangeal acro-osteolysis"
* https://www.orpha.net#445038 "3-methylglutaconic aciduria type 7"
* https://www.orpha.net#447757 "Autosomal dominant spastic paraplegia type 9B"
* https://www.orpha.net#447760 "Autosomal recessive spastic paraplegia type 9B"
* https://www.orpha.net#447774 "Secondary sclerosing cholangitis"
* https://www.orpha.net#448267 "Regressive spondylometaphyseal dysplasia"
* https://www.orpha.net#449432 "IgG4-related submandibular gland disease"
* https://www.orpha.net#449566 "Eosinophilic angiocentric fibrosis"
* https://www.orpha.net#453504 "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation"
* https://www.orpha.net#454706 "Progressive muscular atrophy"
* https://www.orpha.net#454831 "Acute radiation syndrome"
* https://www.orpha.net#454887 "Corticobasal syndrome"
* https://www.orpha.net#7 "3C syndrome"
* https://www.orpha.net#22 "Succinic semialdehyde dehydrogenase deficiency"
* https://www.orpha.net#25 "Glutaryl-CoA dehydrogenase deficiency"
* https://www.orpha.net#28 "Vitamin B12-responsive methylmalonic acidemia"
* https://www.orpha.net#31 "Oxoglutaric aciduria"
* https://www.orpha.net#32 "Glutathione synthetase deficiency"
* https://www.orpha.net#42 "Medium chain acyl-CoA dehydrogenase deficiency"
* https://www.orpha.net#51 "Aicardi-Goutières syndrome"
* https://www.orpha.net#54 "X-linked recessive ocular albinism"
* https://www.orpha.net#57 "Glycogen storage disease due to aldolase A deficiency"
* https://www.orpha.net#61 "Alpha-mannosidosis"
* https://www.orpha.net#72 "Angelman syndrome"
* https://www.orpha.net#100 "Ataxia-telangiectasia"
* https://www.orpha.net#105 "Atresia of urethra"
* https://www.orpha.net#122 "Birt-Hogg-Dubé syndrome"
* https://www.orpha.net#124 "Diamond-Blackfan anemia"
* https://www.orpha.net#456328 "X-linked myotubular myopathy-abnormal genitalia syndrome"
* https://www.orpha.net#457378 "Complex lethal osteochondrodysplasia"
* https://www.orpha.net#458758 "Composite hemangioendothelioma"
* https://www.orpha.net#458763 "Retiform hemangioendothelioma"
* https://www.orpha.net#459033 "Ataxia-oculomotor apraxia type 4"
* https://www.orpha.net#459070 "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"
* https://www.orpha.net#464321 "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome"
* https://www.orpha.net#464336 "BENTA disease"
* https://www.orpha.net#466670 "Cyanide poisoning"
* https://www.orpha.net#466677 "Scorpion envenomation"
* https://www.orpha.net#466806 "Autosomal dominant thrombocytopenia with platelet secretion defect"
* https://www.orpha.net#466943 "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"
* https://www.orpha.net#468631 "Microcephalic cortical malformations-short stature due to RTTN deficiency"
* https://www.orpha.net#468717 "Rhizomelic chondrodysplasia punctata type 5"
* https://www.orpha.net#476084 "BVES-related limb-girdle muscular dystrophy"
* https://www.orpha.net#476406 "Congenital generalized hypercontractile muscle stiffness syndrome"
* https://www.orpha.net#477650 "Fibroblastic rheumatism"
* https://www.orpha.net#477684 "Combined oxidative phosphorylation defect type 26"
* https://www.orpha.net#477774 "Combined oxidative phosphorylation defect type 27"
* https://www.orpha.net#478029 "Combined oxidative phosphorylation defect type 29"
* https://www.orpha.net#480536 "MSH3-related attenuated familial adenomatous polyposis"
* https://www.orpha.net#485350 "CLCN4-related X-linked intellectual disability syndrome"
* https://www.orpha.net#488632 "TBCK-related intellectual disability syndrome"
* https://www.orpha.net#488635 "Early-onset epilepsy-intellectual disability-brain anomalies syndrome"
* https://www.orpha.net#494448 "Vulvar squamous cell carcinoma"
* https://www.orpha.net#496756 "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"
* https://www.orpha.net#497188 "Diffuse intrinsic pontine glioma"
* https://www.orpha.net#497757 "MME-related autosomal dominant Charcot Marie Tooth disease type 2"
* https://www.orpha.net#498228 "Phyllodes tumor of the prostate"
* https://www.orpha.net#498474 "Hyaline fibromatosis syndrome"
* https://www.orpha.net#499009 "Congenital syphilis"
* https://www.orpha.net#500095 "Tall stature-intellectual disability-renal anomalies syndrome"
* https://www.orpha.net#500150 "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome"
* https://www.orpha.net#500464 "Squamous cell carcinoma of the nasal cavity and paranasal sinuses"
* https://www.orpha.net#502366 "Squamous cell carcinoma of the lip"
* https://www.orpha.net#504523 "Severe combined immunodeficiency due to LAT deficiency"
* https://www.orpha.net#505208 "3-methylglutaconic aciduria type 8"
* https://www.orpha.net#505227 "Combined immunodeficiency due to GINS1 deficiency"
* https://www.orpha.net#506098 "Neuroendocrine carcinoma of pancreas"
* https://www.orpha.net#506307 "Stromme syndrome"
* https://www.orpha.net#508498 "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome"
* https://www.orpha.net#512017 "Chronic lymphoproliferative disorder of natural killer cells"
* https://www.orpha.net#513456 "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome"
* https://www.orpha.net#519390 "Isolated blepharochalasis"
* https://www.orpha.net#519410 "Terrien marginal degeneration"
* https://www.orpha.net#521305 "Proximal myopathy with focal depletion of mitochondria"
* https://www.orpha.net#521411 "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect"
* https://www.orpha.net#527468 "Diaphragmatic hernia-short bowel-asplenia syndrome"
* https://www.orpha.net#528084 "Non-specific syndromic intellectual disability"
* https://www.orpha.net#530995 "Mixed phenotype acute leukemia"
* https://www.orpha.net#536532 "Classical-like Ehlers-Danlos syndrome type 2"
* https://www.orpha.net#538096 "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy"
* https://www.orpha.net#542301 "Combined immunodeficiency due to CARMIL2 deficiency"
* https://www.orpha.net#555402 "NAD(P)HX dehydratase deficiency"
* https://www.orpha.net#562639 "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome"
* https://www.orpha.net#563671 "Mucinous cystadenoma of childhood"
* https://www.orpha.net#563684 "Furuncular myiasis due to Dermatobia hominis"
* https://www.orpha.net#563687 "Furuncular myiasis due to Cordylobia anthropophaga"
* https://www.orpha.net#563708 "Syndromic congenital sodium diarrhea"
* https://www.orpha.net#563991 "Osteochondrosis of the tarsal bone"
* https://www.orpha.net#143 "Parathyroid carcinoma"
* https://www.orpha.net#150 "Nasopharyngeal carcinoma"
* https://www.orpha.net#159 "Carnitine-acylcarnitine translocase deficiency"
* https://www.orpha.net#175 "Cartilage-hair hypoplasia"
* https://www.orpha.net#178 "Chordoma"
* https://www.orpha.net#180 "Choroideremia"
* https://www.orpha.net#188 "Systemic capillary leak syndrome"
* https://www.orpha.net#207 "Crouzon syndrome"
* https://www.orpha.net#215 "Congenital stationary night blindness"
* https://www.orpha.net#221 "Dermatomyositis"
* https://www.orpha.net#226 "Dihydropteridine reductase deficiency"
* https://www.orpha.net#229 "Familial aortic dissection"
* https://www.orpha.net#238 "Digestive duplication"
* https://www.orpha.net#240 "Léri-Weill dyschondrosteosis"
* https://www.orpha.net#277 "Severe combined immunodeficiency due to adenosine deaminase deficiency"
* https://www.orpha.net#293 "Congenital herpes simplex virus infection"
* https://www.orpha.net#316 "Progressive symmetric erythrokeratodermia"
* https://www.orpha.net#347 "Frasier syndrome"
* https://www.orpha.net#351 "Galactosialidosis"
* https://www.orpha.net#354 "GM1 gangliosidosis"
* https://www.orpha.net#356 "Gerstmann-Straussler-Scheinker syndrome"
* https://www.orpha.net#358 "Gitelman syndrome"
* https://www.orpha.net#360 "Glioblastoma"
* https://www.orpha.net#364 "Glycogen storage disease due to glucose-6-phosphatase deficiency"
* https://www.orpha.net#380 "Greig cephalopolysyndactyly syndrome"
* https://www.orpha.net#388 "Hirschsprung disease"
* https://www.orpha.net#391 "Classic Hodgkin lymphoma"
* https://www.orpha.net#400 "Cystic echinococcosis"
* https://www.orpha.net#457 "Harlequin ichthyosis"
* https://www.orpha.net#475 "Joubert syndrome"
* https://www.orpha.net#478 "Kallmann syndrome"
* https://www.orpha.net#480 "Kearns-Sayre syndrome"
* https://www.orpha.net#523 "Hereditary leiomyomatosis and renal cell cancer"
* https://www.orpha.net#525 "Lichen planopilaris"
* https://www.orpha.net#531 "Miller-Dieker syndrome"
* https://www.orpha.net#576 "Mucolipidosis type II"
* https://www.orpha.net#578 "Mucolipidosis type IV"
* https://www.orpha.net#596 "X-linked centronuclear myopathy"
* https://www.orpha.net#597 "Central core disease"
* https://www.orpha.net#603 "Distal myopathy, Welander type"
* https://www.orpha.net#618 "Familial melanoma"
* https://www.orpha.net#627 "Nance-Horan syndrome"
* https://www.orpha.net#642 "Hereditary sensory and autonomic neuropathy type 4"
* https://www.orpha.net#647 "Nijmegen breakage syndrome"
* https://www.orpha.net#648 "Noonan syndrome"
* https://www.orpha.net#653 "Multiple endocrine neoplasia type 2"
* https://www.orpha.net#659 "Mutilating palmoplantar keratoderma with periorificial keratotic plaques"
* https://www.orpha.net#677 "Pancreatoblastoma"
* https://www.orpha.net#704 "Pemphigus vulgaris"
* https://www.orpha.net#705 "Pendred syndrome"
* https://www.orpha.net#707 "Plague"
* https://www.orpha.net#710 "Pfeiffer syndrome"
* https://www.orpha.net#728 "Relapsing polychondritis"
* https://www.orpha.net#733 "Familial adenomatous polyposis"
* https://www.orpha.net#749 "Congenital prekallikrein deficiency"
* https://www.orpha.net#763 "Pycnodysostosis"
* https://www.orpha.net#764 "Pyomyositis"
* https://www.orpha.net#777 "X-linked non-syndromic intellectual disability"
* https://www.orpha.net#567983 "Parenteral nutrition-associated cholestasis"
* https://www.orpha.net#568062 "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"
* https://www.orpha.net#570371 "Bartter syndrome type 5"
* https://www.orpha.net#570431 "Idiopathic multicentric Castleman disease"
* https://www.orpha.net#570762 "Infective endocarditis"
* https://www.orpha.net#572428 "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"
* https://www.orpha.net#572550 "RFVT3-related riboflavin transporter deficiency"
* https://www.orpha.net#573253 "Split cord malformation type II"
* https://www.orpha.net#574957 "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency"
* https://www.orpha.net#580933 "Lethal brain and heart developmental defects"
* https://www.orpha.net#581271 "Cramp-fasciculation syndrome"
* https://www.orpha.net#583861 "Isolated mesenteric vein thrombosis"
* https://www.orpha.net#585942 "B-lymphoblastic leukemia/lymphoma with hypodiploidy"
* https://www.orpha.net#589442 "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome"
* https://www.orpha.net#589547 "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder"
* https://www.orpha.net#592570 "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"
* https://www.orpha.net#595098 "Timothy syndrome type 1"
* https://www.orpha.net#597733 "Oculocutaneous albinism type 8"
* https://www.orpha.net#597738 "Luscan-Lumish syndrome"
* https://www.orpha.net#598603 "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome"
* https://www.orpha.net#599082 "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome"
* https://www.orpha.net#599418 "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"
* https://www.orpha.net#603684 "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome"
* https://www.orpha.net#604680 "Symptomatic form of X-linked centronuclear myopathy in female carriers"
* https://www.orpha.net#610569 "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome"
* https://www.orpha.net#611237 "Parkinsonism with polyneuropathy"
* https://www.orpha.net#613274 "Pontocerebellar hypoplasia type 14"
* https://www.orpha.net#619233 "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome"
* https://www.orpha.net#620217 "Bartter syndrome type 1"
* https://www.orpha.net#620220 "Bartter syndrome type 2"
* https://www.orpha.net#623801 "Acute flaccid myelitis"
* https://www.orpha.net#631088 "Autosomal recessive spastic paraplegia type 87"
* https://www.orpha.net#631095 "Spinocerebellar ataxia type 44"
* https://www.orpha.net#633014 "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"
* https://www.orpha.net#633021 "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"
* https://www.orpha.net#633099 "PAICS deficiency"
* https://www.orpha.net#637064 "Isolated optic nerve aplasia"
* https://www.orpha.net#641353 "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"
* https://www.orpha.net#641375 "B-lymphoblastic leukemia/lymphoma with t(17;19)"
* https://www.orpha.net#642071 "Primary pulmonary vein stenosis"
* https://www.orpha.net#642099 "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type"
* https://www.orpha.net#642671 "Familial hyperaldosteronism type IV"
* https://www.orpha.net#642747 "PUM1-related cerebellar ataxia"
* https://www.orpha.net#642965 "Autosomal recessive ataxia due to PEX2 deficiency"
* https://www.orpha.net#643549 "Hao-Fountain syndrome"
* https://www.orpha.net#645378 "Myelic limited dorsal malformation"
* https://www.orpha.net#645617 "Amyopathic dermatomyositis"
* https://www.orpha.net#645793 "Spontaneous intestinal perforation"
* https://www.orpha.net#645822 "Primary bone and joint tuberculosis"
* https://www.orpha.net#645849 "Primary cutaneous tuberculosis"
* https://www.orpha.net#645859 "Primary tuberculosis of the digestive system"
* https://www.orpha.net#646139 "Dysplastic cortical hyperostosis"
* https://www.orpha.net#647811 "Cardiac-urogenital syndrome"
* https://www.orpha.net#648562 "Ferroportin Disease"
* https://www.orpha.net#648675 "Idiopathic scleritis"
* https://www.orpha.net#648684 "Central retinal artery occlusion"
* https://www.orpha.net#779 "Reynolds syndrome"
* https://www.orpha.net#812 "Sialidosis type 1"
* https://www.orpha.net#816 "Sjögren-Larsson syndrome"
* https://www.orpha.net#821 "Sotos syndrome"
* https://www.orpha.net#847 "Alpha-thalassemia-X-linked intellectual disability syndrome"
* https://www.orpha.net#849 "Glanzmann thrombasthenia"
* https://www.orpha.net#869 "Triple A syndrome"
* https://www.orpha.net#873 "Desmoid tumor"
* https://www.orpha.net#875 "Primary pediatric heart tumor"
* https://www.orpha.net#876 "Yolk sac tumor"
* https://www.orpha.net#882 "Tyrosinemia type 1"
* https://www.orpha.net#887 "VACTERL/VATER association"
* https://www.orpha.net#888 "Van der Woude syndrome"
* https://www.orpha.net#891 "Familial exudative vitreoretinopathy"
* https://www.orpha.net#895 "Waardenburg syndrome type 2"
* https://www.orpha.net#900 "Granulomatosis with polyangiitis"
* https://www.orpha.net#910 "Xeroderma pigmentosum"
* https://www.orpha.net#922 "Familial nasal acilia"
* https://www.orpha.net#932 "Achondrogenesis"
* https://www.orpha.net#955 "Hajdu-Cheney syndrome"
* https://www.orpha.net#977 "Adrenomyodystrophy"
* https://www.orpha.net#980 "Absence of the pulmonary artery"
* https://www.orpha.net#991 "PAGOD syndrome"
* https://www.orpha.net#998 "Albinism-deafness syndrome"
* https://www.orpha.net#1010 "Autosomal dominant palmoplantar keratoderma and congenital alopecia"
* https://www.orpha.net#1018 "X-linked Alport syndrome-diffuse leiomyomatosis"
* https://www.orpha.net#1051 "Ramos-Arroyo syndrome"
* https://www.orpha.net#1064 "Aniridia-renal agenesis-psychomotor retardation syndrome"
* https://www.orpha.net#1065 "Aniridia-cerebellar ataxia-intellectual disability syndrome"
* https://www.orpha.net#1070 "Anisakiasis"
* https://www.orpha.net#1121 "Radial deficiency-tibial hypoplasia syndrome"
* https://www.orpha.net#1134 "Isolated arrhinia"
* https://www.orpha.net#1143 "Neurogenic arthrogryposis multiplex congenita"
* https://www.orpha.net#1171 "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"
* https://www.orpha.net#1174 "Cerebellar ataxia-ectodermal dysplasia syndrome"
* https://www.orpha.net#1177 "Early-onset cerebellar ataxia with retained tendon reflexes"
* https://www.orpha.net#1192 "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"
* https://www.orpha.net#1217 "Spinal atrophy-ophthalmoplegia-pyramidal syndrome"
* https://www.orpha.net#1236 "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"
* https://www.orpha.net#1241 "Bencze syndrome"
* https://www.orpha.net#1243 "Best vitelliform macular dystrophy"
* https://www.orpha.net#1259 "Blepharoptosis-myopia-ectopia lentis syndrome"
* https://www.orpha.net#1263 "Boomerang dysplasia"
* https://www.orpha.net#1292 "Brachymorphism-onychodysplasia-dysphalangism syndrome"
* https://www.orpha.net#1296 "Lambert syndrome"
* https://www.orpha.net#1300 "Autosomal dominant popliteal pterygium syndrome"
* https://www.orpha.net#1323 "Camptodactyly-joint contractures-facial skeletal defects syndrome"
* https://www.orpha.net#1329 "Complete atrioventricular septal defect"
* https://www.orpha.net#1344 "Atrial standstill"
* https://www.orpha.net#1355 "Congenital heart defect-round face-developmental delay syndrome"
* https://www.orpha.net#1366 "Autosomal recessive palmoplantar keratoderma and congenital alopecia"
* https://www.orpha.net#1412 "Tarsal-carpal coalition syndrome"
* https://www.orpha.net#1426 "Greenberg dysplasia"
* https://www.orpha.net#1435 "Xq21 microdeletion syndrome"
* https://www.orpha.net#1452 "Cleidocranial dysplasia"
* https://www.orpha.net#1455 "Autosomal dominant coarctation of aorta"
* https://www.orpha.net#1460 "Isolated complex III deficiency"
* https://www.orpha.net#1461 "Criss-cross heart"
* https://www.orpha.net#1514 "Craniodigital-intellectual disability syndrome"
* https://www.orpha.net#1528 "Craniotelencephalic dysplasia"
* https://www.orpha.net#1544 "Benign focal seizures of adolescence"
* https://www.orpha.net#1552 "Currarino syndrome"
* https://www.orpha.net#1653 "Dentin dysplasia"
* https://www.orpha.net#1655 "Müllerian derivatives-lymphangiectasia-polydactyly syndrome"
* https://www.orpha.net#1656 "Dermatitis herpetiformis"
* https://www.orpha.net#1659 "Dermatoleukodystrophy"
* https://www.orpha.net#1666 "Dextrocardia"
* https://www.orpha.net#1670 "Chronic diarrhea with villous atrophy"
* https://www.orpha.net#1677 "Familial idiopathic dilatation of the right atrium"
* https://www.orpha.net#1695 "Non-distal duplication 10q"
* https://www.orpha.net#1698 "Mosaic trisomy 12"
* https://www.orpha.net#1708 "Mosaic trisomy 16"
* https://www.orpha.net#1716 "Distal duplication 18q"
* https://www.orpha.net#1717 "Distal duplication 19q"
* https://www.orpha.net#1807 "Focal facial dermal dysplasia type III"
* https://www.orpha.net#1816 "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome"
* https://www.orpha.net#1824 "Lowry-Wood syndrome"
* https://www.orpha.net#1848 "Renal agenesis, bilateral"
* https://www.orpha.net#1867 "Hereditary bullous dystrophy, macular type"
* https://www.orpha.net#1873 "Jalili syndrome"
* https://www.orpha.net#1880 "Ebstein malformation of the tricuspid valve"
* https://www.orpha.net#1901 "Dermatosparaxis Ehlers-Danlos syndrome"
* https://www.orpha.net#1917 "Fetal methylmercury syndrome"
* https://www.orpha.net#1919 "Phenobarbital embryopathy"
* https://www.orpha.net#1930 "Herpes simplex virus encephalitis"
* https://www.orpha.net#1952 "Epiphyseal stippling-osteoclastic hyperplasia syndrome"
* https://www.orpha.net#1962 "Exostoses-anetodermia-brachydactyly type E syndrome"
* https://www.orpha.net#1972 "Lethal faciocardiomelic dysplasia"
* https://www.orpha.net#1974 "Autosomal recessive faciodigitogenital syndrome"
* https://www.orpha.net#2006 "Median cleft lip/mandible"
* https://www.orpha.net#2031 "Hepatic fibrosis-renal cysts-intellectual disability syndrome"
* https://www.orpha.net#2037 "Congenital aortopulmonary window"
* https://www.orpha.net#2053 "Freeman-Sheldon syndrome"
* https://www.orpha.net#2063 "Splenogonadal fusion-limb defects-micrognathia syndrome"
* https://www.orpha.net#2084 "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome"
* https://www.orpha.net#2086 "Optic pathway glioma"
* https://www.orpha.net#2108 "Hallermann-Streiff syndrome"
* https://www.orpha.net#2114 "Hip dysplasia, Beukes type"
* https://www.orpha.net#2135 "Hennekam-Beemer syndrome"
* https://www.orpha.net#2138 "46,XX ovotesticular difference of sex development"
* https://www.orpha.net#2148 "Lissencephaly type 1 due to doublecortin gene mutation"
* https://www.orpha.net#2149 "Nodular neuronal heterotopia"
* https://www.orpha.net#2152 "Mowat-Wilson syndrome"
* https://www.orpha.net#2163 "Holoprosencephaly-craniosynostosis syndrome"
* https://www.orpha.net#2183 "Hydrocephalus-obesity-hypogonadism syndrome"
* https://www.orpha.net#2216 "Maternal hyperthermia-induced birth defects"
* https://www.orpha.net#2238 "Familial isolated hypoparathyroidism"
* https://www.orpha.net#2241 "Megacystis-microcolon-intestinal hypoperistalsis syndrome"
* https://www.orpha.net#2260 "Oligomeganephronia"
* https://www.orpha.net#2287 "Fused mandibular incisors"
* https://www.orpha.net#2318 "Joubert syndrome with oculorenal defect"
* https://www.orpha.net#2337 "Non-epidermolytic palmoplantar keratoderma"
* https://www.orpha.net#2349 "Muscular pseudohypertrophy-hypothyroidism syndrome"
* https://www.orpha.net#2369 "Limb body wall complex"
* https://www.orpha.net#2370 "Larsen-like osseous dysplasia-short stature syndrome"
* https://www.orpha.net#2373 "Congenital laryngomalacia"
* https://www.orpha.net#2377 "Laurence-Moon syndrome"
* https://www.orpha.net#2386 "Leukoencephalopathy-palmoplantar keratoderma syndrome"
* https://www.orpha.net#2391 "Congenitally short costocoracoid ligament"
* https://www.orpha.net#2396 "Encephalocraniocutaneous lipomatosis"
* https://www.orpha.net#2444 "Congenital pulmonary airway malformation"
* https://www.orpha.net#2473 "McKusick-Kaufman syndrome"
* https://www.orpha.net#2482 "Melhem-Fahl syndrome"
* https://www.orpha.net#2487 "Lower limb malformation-hypospadias syndrome"
* https://www.orpha.net#2499 "Metachondromatosis"
* https://www.orpha.net#2513 "Microcephaly-albinism-digital anomalies syndrome"
* https://www.orpha.net#2547 "Microphthalmia-microtia-fetal akinesia syndrome"
* https://www.orpha.net#2556 "Microphthalmia with linear skin defects syndrome"
* https://www.orpha.net#2563 "MOMO syndrome"
* https://www.orpha.net#2611 "Linear verrucous nevus syndrome"
* https://www.orpha.net#2688 "Adult idiopathic neutropenia"
* https://www.orpha.net#2704 "Ochoa syndrome"
* https://www.orpha.net#2724 "Odontomatosis-aortae esophagus stenosis syndrome"
* https://www.orpha.net#2741 "Ophthalmomandibulomelic dysplasia"
* https://www.orpha.net#2767 "Carpotarsal osteochondromatosis"
* https://www.orpha.net#2774 "Multicentric carpo-tarsal osteolysis with or without nephropathy"
* https://www.orpha.net#2776 "Autosomal recessive distal osteolysis syndrome"
* https://www.orpha.net#2828 "Young-onset Parkinson disease"
* https://www.orpha.net#2854 "Fuhrmann syndrome"
* https://www.orpha.net#2863 "Short stature-wormian bones-dextrocardia syndrome"
* https://www.orpha.net#2872 "Cardiocranial syndrome, Pfeiffer type"
* https://www.orpha.net#2879 "Phocomelia, Schinzel type"
* https://www.orpha.net#2882 "Sitosterolemia"
* https://www.orpha.net#2908 "Kindler epidermolysis bullosa"
* https://www.orpha.net#2917 "Polydactyly-myopia syndrome"
* https://www.orpha.net#2934 "Polysyndactyly-cardiac malformation syndrome"
* https://www.orpha.net#2941 "Porencephaly-cerebellar hypoplasia-internal malformations syndrome"
* https://www.orpha.net#2952 "Adducted thumbs-arthrogryposis syndrome, Christian type"
* https://www.orpha.net#2970 "Prune belly syndrome"
* https://www.orpha.net#3003 "Pyknoachondrogenesis"
* https://www.orpha.net#3027 "Caudal regression syndrome"
* https://www.orpha.net#3032 "NPHP3-related Meckel-like syndrome"
* https://www.orpha.net#3033 "Renal tubular dysgenesis"
* https://www.orpha.net#3041 "Intellectual disability-balding-patella luxation-acromicria syndrome"
* https://www.orpha.net#3079 "Intellectual disability, Buenos-Aires type"
* https://www.orpha.net#3099 "Rheumatic fever"
* https://www.orpha.net#3102 "Richieri Costa-Pereira syndrome"
* https://www.orpha.net#3157 "Septo-optic dysplasia spectrum"
* https://www.orpha.net#3165 "Eosinophilic fasciitis"
* https://www.orpha.net#3167 "Siegler-Brewer-Carey syndrome"
* https://www.orpha.net#3190 "Subpulmonary stenosis"
* https://www.orpha.net#3194 "Corneodermatoosseous syndrome"
* https://www.orpha.net#3199 "Stimmler syndrome"
* https://www.orpha.net#3203 "Overhydrated hereditary stomatocytosis"
* https://www.orpha.net#3204 "Stormorken-Sjaastad-Langslet syndrome"
* https://www.orpha.net#3208 "Isolated succinate-CoQ reductase deficiency"
* https://www.orpha.net#3218 "Deafness-epiphyseal dysplasia-short stature syndrome"
* https://www.orpha.net#3233 "Cochleosaccular degeneration-cataract syndrome"
* https://www.orpha.net#3237 "Multiple synostoses syndrome"
* https://www.orpha.net#3243 "Sweet syndrome"
* https://www.orpha.net#3273 "Synovial sarcoma"
* https://www.orpha.net#3294 "Extensor tendons of finger anomalies"
* https://www.orpha.net#3309 "Tetrasomy 5p"
* https://www.orpha.net#3310 "Tetrasomy 9p"
* https://www.orpha.net#3326 "Thymic-renal-anal-lung dysplasia"
* https://www.orpha.net#3327 "Thyrocerebrorenal syndrome"
* https://www.orpha.net#3337 "Primary Fanconi renotubular syndrome"
* https://www.orpha.net#3384 "Truncus arteriosus"
* https://www.orpha.net#3437 "Vogt-Koyanagi-Harada disease"
* https://www.orpha.net#3467 "Hereditary xanthinuria"
* https://www.orpha.net#3473 "Zimmermann-Laband syndrome"
* https://www.orpha.net#3474 "CHIME syndrome"
* https://www.orpha.net#25980 "X-linked myopathy with excessive autophagy"
* https://www.orpha.net#26349 "Protein S acquired deficiency"
* https://www.orpha.net#26793 "Very long chain acyl-CoA dehydrogenase deficiency"
* https://www.orpha.net#31150 "Tangier disease"
* https://www.orpha.net#33111 "Granulomatous slack skin"
* https://www.orpha.net#33226 "Waldenström macroglobulinemia"
* https://www.orpha.net#33355 "Reticular dysgenesis"
* https://www.orpha.net#35107 "Desmosterolosis"
* https://www.orpha.net#35121 "Lysosomal acid phosphatase deficiency"
* https://www.orpha.net#35664 "ALDH18A1-related De Barsy syndrome"
* https://www.orpha.net#35689 "Primary lateral sclerosis"
* https://www.orpha.net#35909 "Combined deficiency of factor V and factor VIII"
* https://www.orpha.net#36258 "Buerger disease"
* https://www.orpha.net#36899 "Myoclonus-dystonia syndrome"
* https://www.orpha.net#43117 "Acute tricyclic antidepressant poisoning"
* https://www.orpha.net#48918 "Focal myositis"
* https://www.orpha.net#49041 "IgG4-related retroperitoneal fibrosis"
* https://www.orpha.net#49804 "Lichen amyloidosis"
* https://www.orpha.net#51083 "Familial short QT syndrome"
* https://www.orpha.net#51084 "Torsade-de-pointes syndrome with short coupling interval"
* https://www.orpha.net#51890 "Anterior cutaneous nerve entrapment syndrome"
* https://www.orpha.net#52022 "Potocki-Shaffer syndrome"
* https://www.orpha.net#53296 "Familial cutaneous collagenoma"
* https://www.orpha.net#60014 "Argyria"
* https://www.orpha.net#63442 "Angel-shaped phalango-epiphyseal dysplasia"
* https://www.orpha.net#65288 "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"
* https://www.orpha.net#66633 "Sensorineural hearing loss-early graying-essential tremor syndrome"
* https://www.orpha.net#67041 "Hyaluronidase deficiency"
* https://www.orpha.net#67047 "3-methylglutaconic aciduria type 3"
* https://www.orpha.net#69078 "Liposarcoma"
* https://www.orpha.net#69126 "PAPA syndrome"
* https://www.orpha.net#70596 "Congenital Epstein-Barr virus infection"
* https://www.orpha.net#71213 "Retinal capillary malformation"
* https://www.orpha.net#71267 "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome"
* https://www.orpha.net#71271 "Split hand-split foot-deafness syndrome"
* https://www.orpha.net#71273 "Renal nutcracker syndrome"
* https://www.orpha.net#71277 "Classic glucose transporter type 1 deficiency syndrome"
* https://www.orpha.net#71278 "Congenital brain dysgenesis due to glutamine synthetase deficiency"
* https://www.orpha.net#71290 "Familial platelet disorder with associated myeloid malignancy"
* https://www.orpha.net#71517 "Rapid-onset dystonia-parkinsonism"
* https://www.orpha.net#71519 "Psychogenic movement disorders"
* https://www.orpha.net#71526 "Obesity due to pro-opiomelanocortin deficiency"
* https://www.orpha.net#71529 "Obesity due to melanocortin 4 receptor deficiency"
* https://www.orpha.net#75327 "North Carolina macular dystrophy"
* https://www.orpha.net#75376 "Familial drusen"
* https://www.orpha.net#75857 "6q terminal deletion syndrome"
* https://www.orpha.net#77301 "Monosomy 9q22.3"
* https://www.orpha.net#79091 "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"
* https://www.orpha.net#79096 "Pyridoxal phosphate-responsive seizures"
* https://www.orpha.net#79128 "Lymphoid interstitial pneumonia"
* https://www.orpha.net#79140 "Cutaneous neuroendocrine carcinoma"
* https://www.orpha.net#79154 "2-aminoadipic 2-oxoadipic aciduria"
* https://www.orpha.net#79156 "Seizures-intellectual disability due to hydroxylysinuria syndrome"
* https://www.orpha.net#79257 "GM1 gangliosidosis type 3"
* https://www.orpha.net#79262 "Adult neuronal ceroid lipofuscinosis"
* https://www.orpha.net#79263 "Infantile neuronal ceroid lipofuscinosis"
* https://www.orpha.net#79282 "Methylmalonic acidemia with homocystinuria, type cblC"
* https://www.orpha.net#79283 "Methylmalonic acidemia with homocystinuria, type cblD"
* https://www.orpha.net#79299 "Congenital glucokinase-related hyperinsulinism"
* https://www.orpha.net#79301 "Congenital bile acid synthesis defect type 1"
* https://www.orpha.net#79321 "ALG3-CDG"
* https://www.orpha.net#79323 "MPDU1-CDG"
* https://www.orpha.net#79397 "Epidermolysis bullosa simplex with mottled pigmentation"
* https://www.orpha.net#79409 "Recessive dystrophic epidermolysis bullosa inversa"
* https://www.orpha.net#79443 "Pseudohypoparathyroidism type 1A"
* https://www.orpha.net#79447 "X-linked lethal multiple pterygium syndrome"
* https://www.orpha.net#79455 "Cutaneous mastocytoma"
* https://www.orpha.net#79456 "Diffuse cutaneous mastocytosis"
* https://www.orpha.net#79466 "Inflammatory linear verrucous epidermal nevus"
* https://www.orpha.net#79476 "Griscelli syndrome type 1"
* https://www.orpha.net#79477 "Griscelli syndrome type 2"
* https://www.orpha.net#79499 "Autosomal dominant deafness-onychodystrophy syndrome"
* https://www.orpha.net#83453 "Vulvovaginal gingival syndrome"
* https://www.orpha.net#83454 "Glomuvenous malformation"
* https://www.orpha.net#83468 "Solitary bone cyst"
* https://www.orpha.net#83471 "T-cell immunodeficiency with thymic aplasia"
* https://www.orpha.net#84090 "Fibronectin glomerulopathy"
* https://www.orpha.net#85162 "Facial onset sensory and motor neuronopathy"
* https://www.orpha.net#85168 "Craniofacial conodysplasia"
* https://www.orpha.net#85174 "Pseudodiastrophic dysplasia"
* https://www.orpha.net#85184 "Craniometadiaphyseal dysplasia, wormian bone type"
* https://www.orpha.net#85193 "Idiopathic juvenile osteoporosis"
* https://www.orpha.net#85201 "Genitopatellar syndrome"
* https://www.orpha.net#85212 "Fetal Gaucher disease"
* https://www.orpha.net#85277 "X-linked intellectual disability, Cantagrel type"
* https://www.orpha.net#85317 "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"
* https://www.orpha.net#85334 "X-linked neurodegenerative syndrome, Bertini type"
* https://www.orpha.net#85336 "X-linked neurodegenerative syndrome, Hamel type"
* https://www.orpha.net#85451 "ATTRV122I amyloidosis"
* https://www.orpha.net#85453 "X-linked reticulate pigmentary disorder"
* https://www.orpha.net#86818 "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"
* https://www.orpha.net#86830 "Chronic myeloproliferative disease, unclassifiable"
* https://www.orpha.net#86845 "Acute myeloid leukaemia with myelodysplasia-related features"
* https://www.orpha.net#86879 "Extranodal nasal NK/T cell lymphoma"
* https://www.orpha.net#86897 "Langerhans cell sarcoma"
* https://www.orpha.net#86906 "Hypothalamic hamartomas with gelastic seizures"
* https://www.orpha.net#86915 "Lymphedema-atrial septal defects-facial changes syndrome"
* https://www.orpha.net#86919 "Keratosis palmaris et plantaris-clinodactyly syndrome"
* https://www.orpha.net#87876 "Sialidosis type 2"
* https://www.orpha.net#88919 "Autosomal recessive Alport syndrome"
* https://www.orpha.net#88938 "Pseudohypoaldosteronism type 2A"
* https://www.orpha.net#88940 "Pseudohypoaldosteronism type 2C"
* https://www.orpha.net#90023 "Primary immunodeficiency syndrome due to LAMTOR2 deficiency"
* https://www.orpha.net#90031 "Non-spherocytic hemolytic anemia due to hexokinase deficiency"
* https://www.orpha.net#90037 "Drug-induced autoimmune hemolytic anemia"
* https://www.orpha.net#90042 "Primary familial polycythemia"
* https://www.orpha.net#90060 "Diffuse alveolar hemorrhage"
* https://www.orpha.net#90064 "Acute peripheral arterial occlusion"
* https://www.orpha.net#90065 "Acquired aneurysmal subarachnoid hemorrhage"
* https://www.orpha.net#90068 "Cocaine intoxication"
* https://www.orpha.net#90073 "Hepatitis B reinfection following liver transplantation"
* https://www.orpha.net#90078 "Invasive infections due to vancomycin-resistant enterococci"
* https://www.orpha.net#90154 "Mandibuloacral dysplasia with type B lipodystrophy"
* https://www.orpha.net#90156 "Centrifugal lipodystrophy"
* https://www.orpha.net#90158 "Idiopathic localized lipodystrophy"
* https://www.orpha.net#90281 "Discoid lupus erythematosus"
* https://www.orpha.net#90289 "Localized scleroderma"
* https://www.orpha.net#90342 "Xeroderma pigmentosum variant"
* https://www.orpha.net#90625 "Rare X-linked non-syndromic sensorineural deafness type DFN"
* https://www.orpha.net#90635 "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA"
* https://www.orpha.net#90796 "46,XY difference of sex development due to isolated 17,20-lyase deficiency"
* https://www.orpha.net#91359 "Chronic pneumonitis of infancy"
* https://www.orpha.net#91483 "Rieger anomaly"
* https://www.orpha.net#91491 "Congenital ectropion uveae"
* https://www.orpha.net#91492 "Early-onset non-syndromic cataract"
* https://www.orpha.net#93172 "Renal dysplasia, unilateral"
* https://www.orpha.net#93282 "Spondyloepimetaphyseal dysplasia, PAPSS2 type"
* https://www.orpha.net#93298 "Achondrogenesis type 1B"
* https://www.orpha.net#93299 "Achondrogenesis type 1A"
* https://www.orpha.net#93302 "Brachyolmia, Maroteaux type"
* https://www.orpha.net#93314 "Spondylometaphyseal dysplasia, Kozlowski type"
* https://www.orpha.net#93336 "Polydactyly of a triphalangeal thumb"
* https://www.orpha.net#93351 "Spondyloepimetaphyseal dysplasia, Irapa type"
* https://www.orpha.net#93384 "Brachydactyly type C"
* https://www.orpha.net#93403 "Syndactyly type 2"
* https://www.orpha.net#93557 "Light and heavy chain deposition disease"
* https://www.orpha.net#93601 "Xanthinuria type I"
* https://www.orpha.net#93605 "Bartter syndrome type 3"
* https://www.orpha.net#93952 "X-linked intellectual disability, Hedera type"
* https://www.orpha.net#94064 "Deafness-infertility syndrome"
* https://www.orpha.net#94086 "Blue diaper syndrome"
* https://www.orpha.net#94088 "Hereditary renal hypouricemia"
* https://www.orpha.net#94093 "Neuroleptic malignant syndrome"
* https://www.orpha.net#95513 "Panhypophysitis"
* https://www.orpha.net#95707 "Idiopathic isolated micropenis"
* https://www.orpha.net#96060 "Mosaic trisomy 5"
* https://www.orpha.net#96063 "Mosaic trisomy 10"
* https://www.orpha.net#96072 "4p16.3 microduplication syndrome"
* https://www.orpha.net#96078 "16p13.3 microduplication syndrome"
* https://www.orpha.net#96094 "Distal duplication 2q"
* https://www.orpha.net#96105 "Distal duplication 13q"
* https://www.orpha.net#96148 "Distal deletion 10q"
* https://www.orpha.net#96149 "Distal deletion 12q"
* https://www.orpha.net#96269 "Isolated partial vaginal agenesis"
* https://www.orpha.net#97214 "Eisenmenger syndrome"
* https://www.orpha.net#97252 "Mega-cisterna magna"
* https://www.orpha.net#97289 "Thymic neuroendocrine tumor"
* https://www.orpha.net#97335 "Osgood-Schlatter disease"
* https://www.orpha.net#97341 "Persistent placoid maculopathy"
* https://www.orpha.net#97678 "Maternal uniparental disomy of chromosome 13"
* https://www.orpha.net#98686 "Congenital trochlear nerve palsy"
* https://www.orpha.net#98764 "Spinocerebellar ataxia type 27"
* https://www.orpha.net#98797 "Isochromosomy Yp"
* https://www.orpha.net#98819 "Familial temporal lobe epilepsy"
* https://www.orpha.net#98853 "Autosomal dominant Emery-Dreifuss muscular dystrophy"
* https://www.orpha.net#98869 "Congenital dyserythropoietic anemia type I"
* https://www.orpha.net#98873 "Congenital dyserythropoietic anemia type II"
* https://www.orpha.net#98881 "Familial dysfibrinogenemia"
* https://www.orpha.net#98905 "Congenital multicore myopathy with external ophthalmoplegia"
* https://www.orpha.net#98909 "Desminopathy"
* https://www.orpha.net#98915 "Synaptic congenital myasthenic syndromes"
* https://www.orpha.net#98989 "Cerulean cataract"
* https://www.orpha.net#98991 "Early-onset nuclear cataract"
* https://www.orpha.net#99002 "Reticular dystrophy of the retinal pigment epithelium"
* https://www.orpha.net#99076 "Persistent fifth aortic arch"
* https://www.orpha.net#99090 "Malposition of a coronary ostium"
* https://www.orpha.net#99105 "Atrial septal defect, sinus venosus type"
* https://www.orpha.net#99118 "Coronary sinus atresia"
* https://www.orpha.net#99138 "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"
* https://www.orpha.net#99177 "Isolated distichiasis"
* https://www.orpha.net#99642 "Spondyloepimetaphyseal dysplasia, Handigodu type"
* https://www.orpha.net#99647 "Cheirospondyloenchondromatosis"
* https://www.orpha.net#99725 "Pituitary gigantism"
* https://www.orpha.net#99732 "Sulfite oxidase deficiency due to molybdenum cofactor deficiency"
* https://www.orpha.net#99745 "Typhoid"
* https://www.orpha.net#99757 "Embryonal rhabdomyosarcoma"
* https://www.orpha.net#99776 "Mosaic trisomy 9"
* https://www.orpha.net#99827 "Crimean-Congo hemorrhagic fever"
* https://www.orpha.net#99828 "Dengue fever"
* https://www.orpha.net#99842 "Leukocyte adhesion deficiency type I"
* https://www.orpha.net#99843 "Leukocyte adhesion deficiency type II"
* https://www.orpha.net#99854 "Cree leukoencephalopathy"
* https://www.orpha.net#99860 "Precursor B-cell acute lymphoblastic leukemia"
* https://www.orpha.net#99915 "Maligant granulosa cell tumor of the ovary"
* https://www.orpha.net#99928 "Placental site trophoblastic tumor"
* https://www.orpha.net#99935 "Pleuropulmonary blastoma type 3"
* https://www.orpha.net#99937 "Autosomal dominant Charcot-Marie-Tooth disease type 2C"
* https://www.orpha.net#99945 "Autosomal dominant Charcot-Marie-Tooth disease type 2L"
* https://www.orpha.net#99956 "Charcot-Marie-Tooth disease type 4B2"
* https://www.orpha.net#99969 "Pleomorphic liposarcoma"
* https://www.orpha.net#99989 "Intermediate DEND syndrome"
* https://www.orpha.net#100002 "Extraneural perineurioma"
* https://www.orpha.net#100006 "ABeta amyloidosis, Dutch type"
* https://www.orpha.net#100011 "Lissencephaly with cerebellar hypoplasia type A"
* https://www.orpha.net#100016 "Lissencephaly with cerebellar hypoplasia type F"
* https://www.orpha.net#100045 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"
* https://www.orpha.net#100048 "Tubular duplication of the esophagus"
* https://www.orpha.net#100056 "Acquired angioedema type 1"
* https://www.orpha.net#100075 "Neuroendocrine tumor of stomach"
* https://www.orpha.net#100084 "Middle ear neuroendocrine tumor"
* https://www.orpha.net#100984 "Autosomal dominant spastic paraplegia type 3"
* https://www.orpha.net#100985 "Autosomal dominant spastic paraplegia type 4"
* https://www.orpha.net#100993 "Autosomal dominant spastic paraplegia type 12"
* https://www.orpha.net#101004 "Autosomal recessive spastic paraplegia type 24"
* https://www.orpha.net#101005 "Autosomal recessive spastic paraplegia type 25"
* https://www.orpha.net#101050 "Familial hypocalciuric hypercalcemia type 3"
* https://www.orpha.net#101068 "Congenital stromal corneal dystrophy"
* https://www.orpha.net#101077 "X-linked Charcot-Marie-Tooth disease type 3"
* https://www.orpha.net#101102 "Charcot-Marie-Tooth disease type 2H"
* https://www.orpha.net#101109 "Spinocerebellar ataxia type 28"
* https://www.orpha.net#101111 "Spinocerebellar ataxia type 25"
* https://www.orpha.net#102379 "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent"
* https://www.orpha.net#102724 "Acute myeloid leukemia with t(8;21)(q22;q22) translocation"
* https://www.orpha.net#104077 "Myopathic intestinal pseudoobstruction"
* https://www.orpha.net#137583 "Vulvar intraepithelial neoplasia"
* https://www.orpha.net#137599 "Herpes simplex virus stromal keratitis"
* https://www.orpha.net#137608 "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"
* https://www.orpha.net#137625 "Glycogen storage disease due to muscle and heart glycogen synthase deficiency"
* https://www.orpha.net#137672 "Pellucid marginal degeneration"
* https://www.orpha.net#137776 "Lethal congenital contracture syndrome type 2"
* https://www.orpha.net#139423 "Idiopathic acute transverse myelitis"
* https://www.orpha.net#139455 "Autosomal recessive bestrophinopathy"
* https://www.orpha.net#139466 "SERKAL syndrome"
* https://www.orpha.net#139480 "Autosomal recessive spastic paraplegia type 39"
* https://www.orpha.net#139536 "Distal hereditary motor neuropathy type 5"
* https://www.orpha.net#139583 "X-linked hereditary sensory and autonomic neuropathy with deafness"
* https://www.orpha.net#140905 "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency"
* https://www.orpha.net#140952 "Syndactyly-telecanthus-anogenital and renal malformations syndrome"
* https://www.orpha.net#141000 "Orofaciodigital syndrome type 11"
* https://www.orpha.net#141051 "Facial dermoid cyst"
* https://www.orpha.net#141099 "Proboscis lateralis"
* https://www.orpha.net#141132 "Oculo-auriculo-vertebral spectrum"
* https://www.orpha.net#141209 "Diffuse lymphatic malformation"
* https://www.orpha.net#141258 "Tessier number 4 facial cleft"
* https://www.orpha.net#141291 "Cleft lip and alveolus"
* https://www.orpha.net#141327 "Orofaciodigital syndrome type 12"
* https://www.orpha.net#157769 "Situs ambiguus"
* https://www.orpha.net#157954 "ANE syndrome"
* https://www.orpha.net#157973 "Congenital muscular dystrophy due to LMNA mutation"
* https://www.orpha.net#158003 "Xanthoma disseminatum"
* https://www.orpha.net#158008 "Papular xanthoma"
* https://www.orpha.net#158673 "Localized dystrophic epidermolysis bullosa, acral form"
* https://www.orpha.net#158687 "Lethal acantholytic erosive disorder"
* https://www.orpha.net#163681 "CNTNAP2-related developmental and epileptic encephalopathy"
* https://www.orpha.net#163703 "Febrile infection-related epilepsy syndrome"
* https://www.orpha.net#163721 "Rolandic epilepsy-speech dyspraxia syndrome"
* https://www.orpha.net#163971 "X-linked intellectual disability, Cilliers type"
* https://www.orpha.net#165955 "Wound myiasis"
* https://www.orpha.net#166093 "Von Willebrand disease type 2N"
* https://www.orpha.net#166272 "Odontochondrodysplasia"
* https://www.orpha.net#166302 "Benign partial epilepsy with secondarily generalized seizures in infancy"
* https://www.orpha.net#166305 "Benign infantile seizures associated with mild gastroenteritis"
* https://www.orpha.net#166430 "Micturation-induced seizures"
* https://www.orpha.net#168563 "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"
* https://www.orpha.net#168588 "Hyperandrogenism due to cortisone reductase deficiency"
* https://www.orpha.net#168629 "Autosomal thrombocytopenia with normal platelets"
* https://www.orpha.net#168632 "Generalized basaloid follicular hamartoma syndrome"
* https://www.orpha.net#168960 "Refractory anemia with excess blasts in transformation"
* https://www.orpha.net#168966 "Composite lymphoma"
* https://www.orpha.net#169142 "Recurrent infection due to specific granule deficiency"
* https://www.orpha.net#171439 "Childhood-onset nemaline myopathy"
* https://www.orpha.net#171844 "Blindness-scoliosis-arachnodactyly syndrome"
* https://www.orpha.net#171871 "Renal pseudohypoaldosteronism type 1"
* https://www.orpha.net#171886 "Cylindrical spirals myopathy"
* https://www.orpha.net#177904 "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"
* https://www.orpha.net#178307 "Reticulate acropigmentation of Kitamura"
* https://www.orpha.net#178382 "Congenital vertical talus"
* https://www.orpha.net#178400 "Distal myopathy with anterior tibial onset"
* https://www.orpha.net#178493 "Myopic macular degeneration"
* https://www.orpha.net#180106 "Bicervical bicornuate uterus and blind hemivagina"
* https://www.orpha.net#180237 "Benign tumor of fallopian tubes"
* https://www.orpha.net#183666 "Hyper-IgM syndrome without susceptibility to opportunistic infections"
* https://www.orpha.net#183713 "Bacterial susceptibility due to TLR signaling pathway deficiency"
* https://www.orpha.net#189427 "Cushing syndrome due to bilateral macronodular adrenocortical disease"
* https://www.orpha.net#199282 "Harlequin syndrome"
* https://www.orpha.net#199318 "15q13.3 microdeletion syndrome"
* https://www.orpha.net#206583 "Adult polyglucosan body disease"
* https://www.orpha.net#206586 "Neurolymphomatosis"
* https://www.orpha.net#208444 "Bilateral frontal polymicrogyria"
* https://www.orpha.net#209004 "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy"
* https://www.orpha.net#209916 "Extraskeletal myxoid chondrosarcoma"
* https://www.orpha.net#209973 "Benign nocturnal alternating hemiplegia of childhood"
* https://www.orpha.net#210163 "Congenital lethal myopathy, Compton-North type"
* https://www.orpha.net#213625 "Leiomyosarcoma of the corpus uteri"
* https://www.orpha.net#213777 "High-grade neuroendocrine carcinoma of the cervix uteri"
* https://www.orpha.net#216812 "Osteogenesis imperfecta type 3"
* https://www.orpha.net#216975 "Niemann-Pick disease type C, severe early infantile neurologic onset"
* https://www.orpha.net#217017 "Zechi-Ceide syndrome"
* https://www.orpha.net#217335 "RIN2 syndrome"
* https://www.orpha.net#217390 "Combined immunodeficiency due to DOCK8 deficiency"
* https://www.orpha.net#217407 "Hereditary hypotrichosis with recurrent skin vesicles"
* https://www.orpha.net#220436 "Quebec platelet disorder"
* https://www.orpha.net#221043 "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome"
* https://www.orpha.net#228157 "Marburg acute multiple sclerosis"
* https://www.orpha.net#228179 "Autosomal dominant Charcot-Marie-Tooth disease type 2M"
* https://www.orpha.net#228227 "Late-onset focal dermal elastosis"
* https://www.orpha.net#228247 "Acquired pseudoxanthoma elasticum"
* https://www.orpha.net#228302 "Carnitine palmitoyl transferase II deficiency, myopathic form"
* https://www.orpha.net#228343 "CLN4B disease"
* https://www.orpha.net#228357 "CLN9 disease"
* https://www.orpha.net#228384 "5q14.3 microdeletion syndrome"
* https://www.orpha.net#228396 "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"
* https://www.orpha.net#228415 "5q35 microduplication syndrome"
* https://www.orpha.net#230851 "Cardiac-valvular Ehlers-Danlos syndrome"
* https://www.orpha.net#231137 "Silver-Russell syndrome due to 7p11.2p13 microduplication"
* https://www.orpha.net#231160 "Familial cerebral saccular aneurysm"
* https://www.orpha.net#231183 "Usher syndrome type 3"
* https://www.orpha.net#231214 "Beta-thalassemia major"
* https://www.orpha.net#231222 "Beta-thalassemia intermedia"
* https://www.orpha.net#231445 "Paraparetic variant of Guillain-Barré syndrome"
* https://www.orpha.net#231457 "Acute pandysautonomia"
* https://www.orpha.net#231466 "Acute sensory ataxic neuropathy"
* https://www.orpha.net#231556 "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome"
* https://www.orpha.net#231573 "Congenital erosive and vesicular dermatosis"
* https://www.orpha.net#231662 "Isolated growth hormone deficiency type IA"
* https://www.orpha.net#231679 "Isolated growth hormone deficiency type II"
* https://www.orpha.net#231692 "Isolated growth hormone deficiency type III"
* https://www.orpha.net#238455 "Infantile dystonia-parkinsonism"
* https://www.orpha.net#238505 "Combined immunodeficiency due to CD27 deficiency"
* https://www.orpha.net#238621 "Ileal pouch anal anastomosis related faecal incontinence"
* https://www.orpha.net#238744 "Mammary-digital-nail syndrome"
* https://www.orpha.net#238750 "4q21 microdeletion syndrome"
* https://www.orpha.net#240103 "Progressive supranuclear palsy-corticobasal syndrome"
* https://www.orpha.net#244242 "HELLP syndrome"
* https://www.orpha.net#244310 "RFT1-CDG"
* https://www.orpha.net#247165 "Infantile mercury poisoning"
* https://www.orpha.net#247234 "Sporadic adult-onset ataxia of unknown etiology"
* https://www.orpha.net#247257 "Inhalational anthrax"
* https://www.orpha.net#247353 "Generalized pustular psoriasis"
* https://www.orpha.net#247546 "Acute neonatal citrullinemia type I"
* https://www.orpha.net#247604 "Juvenile primary lateral sclerosis"
* https://www.orpha.net#247623 "Perinatal lethal hypophosphatasia"
* https://www.orpha.net#247798 "MUTYH-related attenuated familial adenomatous polyposis"
* https://www.orpha.net#247806 "APC-related attenuated familial adenomatous polyposis"
* https://www.orpha.net#247834 "Occult macular dystrophy"
* https://www.orpha.net#250977 "AICA-ribosiduria"
* https://www.orpha.net#250984 "Autosomal recessive Stickler syndrome"
* https://www.orpha.net#251038 "3q29 microduplication syndrome"
* https://www.orpha.net#251056 "6q25 microdeletion syndrome"
* https://www.orpha.net#251071 "8p23.1 microdeletion syndrome"
* https://www.orpha.net#251290 "Parietal foramina with clavicular hypoplasia"
* https://www.orpha.net#251365 "Sickle cell-hemoglobin C disease syndrome"
* https://www.orpha.net#251383 "CK syndrome"
* https://www.orpha.net#251523 "Hyperzincemia and hypercalprotectinemia"
* https://www.orpha.net#251595 "Diffuse astrocytoma"
* https://www.orpha.net#251679 "Astroblastoma"
* https://www.orpha.net#251899 "Choroid plexus carcinoma"
* https://www.orpha.net#251919 "Pineal parenchymal tumor of intermediate differenciation"
* https://www.orpha.net#252175 "Vestibular schwannoma"
* https://www.orpha.net#254504 "Inhalational botulism"
* https://www.orpha.net#254509 "Iatrogenic botulism"
* https://www.orpha.net#254693 "Partial hydatidiform mole"
* https://www.orpha.net#254892 "Autosomal dominant progressive external ophthalmoplegia"
* https://www.orpha.net#254920 "Combined oxidative phosphorylation defect type 2"
* https://www.orpha.net#254925 "Combined oxidative phosphorylation defect type 4"
* https://www.orpha.net#255182 "Pyruvate dehydrogenase E3-binding protein deficiency"
* https://www.orpha.net#255229 "Navajo neurohepatopathy"
* https://www.orpha.net#261250 "16q24.3 microdeletion syndrome"
* https://www.orpha.net#261501 "Atypical Norrie disease due to Xp11.3 microdeletion"
* https://www.orpha.net#261552 "Mowat-Wilson syndrome due to a ZEB2 point mutation"
* https://www.orpha.net#261584 "Familial adenomatous polyposis due to 5q22.2 microdeletion"
* https://www.orpha.net#261647 "Okihiro syndrome due to a point mutation"
* https://www.orpha.net#263310 "Thymoma type A"
* https://www.orpha.net#263339 "Poorly differentiated thymic neuroendocrine carcinoma"
* https://www.orpha.net#263501 "COG4-CDG"
* https://www.orpha.net#264688 "Congenital chylothorax"
* https://www.orpha.net#268145 "Classic maple syrup urine disease"
* https://www.orpha.net#268882 "Arnold-Chiari malformation type I"
* https://www.orpha.net#268940 "Bilateral polymicrogyria"
* https://www.orpha.net#269001 "Isolated focal cortical dysplasia type IIa"
* https://www.orpha.net#269197 "Glioependymal/ependymal cyst"
* https://www.orpha.net#275777 "Heritable pulmonary arterial hypertension"
* https://www.orpha.net#275944 "Hemolytic disease of the newborn with Kell alloimmunization"
* https://www.orpha.net#276198 "Spinocerebellar ataxia type 36"
* https://www.orpha.net#276399 "Familial multinodular goiter"
* https://www.orpha.net#276413 "10q22.3q23.3 microdeletion syndrome"
* https://www.orpha.net#276429 "Hypnic headache"
* https://www.orpha.net#279897 "Primary oculocerebral lymphoma"
* https://www.orpha.net#280071 "ALG11-CDG"
* https://www.orpha.net#280133 "Complement component 3 deficiency"
* https://www.orpha.net#280219 "Pelizaeus-Merzbacher disease, classic form"
* https://www.orpha.net#280224 "Pelizaeus-Merzbacher disease, transitional form"
* https://www.orpha.net#280229 "Pelizaeus-Merzbacher disease in female carriers"
* https://www.orpha.net#280315 "Autoimmune pancreatitis type 2"
* https://www.orpha.net#280640 "Occipital pachygyria and polymicrogyria"
* https://www.orpha.net#280671 "Megaconial congenital muscular dystrophy"
* https://www.orpha.net#280785 "Bullous diffuse cutaneous mastocytosis"
* https://www.orpha.net#280802 "Intralobar congenital pulmonary sequestration"
* https://www.orpha.net#280921 "Idiopathic panuveitis"
* https://www.orpha.net#281122 "Self-improving collodion baby"
* https://www.orpha.net#281201 "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"
* https://www.orpha.net#284160 "8q21.11 microdeletion syndrome"
* https://www.orpha.net#284282 "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency"
* https://www.orpha.net#284332 "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia"
* https://www.orpha.net#284426 "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"
* https://www.orpha.net#284448 "CLIPPERS"
* https://www.orpha.net#284963 "Marfan syndrome type 1"
* https://www.orpha.net#289176 "Autosomal recessive hypophosphatemic rickets"
* https://www.orpha.net#289290 "Hypermethioninemia encephalopathy due to adenosine kinase deficiency"
* https://www.orpha.net#289326 "Tropical spastic paraparesis"
* https://www.orpha.net#289666 "Plasmablastic lymphoma"
* https://www.orpha.net#289860 "Infantile glycine encephalopathy"
* https://www.orpha.net#289877 "Transient hyperammonemia of the newborn"
* https://www.orpha.net#294016 "Microcephaly-capillary malformation syndrome"
* https://www.orpha.net#295197 "Synpolydactyly type 2"
* https://www.orpha.net#295229 "Congenital genu recurvatum"
* https://www.orpha.net#300298 "Severe congenital hypochromic anemia with ringed sideroblasts"
* https://www.orpha.net#300305 "11p15.4 microduplication syndrome"
* https://www.orpha.net#300496 "Multiple congenital anomalies-hypotonia-seizures syndrome type 2"
* https://www.orpha.net#300536 "DDOST-CDG"
* https://www.orpha.net#300570 "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"
* https://www.orpha.net#300573 "Polymicrogyria due to TUBB2B mutation"
* https://www.orpha.net#306527 "Isolated hereditary congenital facial paralysis"
* https://www.orpha.net#306686 "Delayed encephalopathy due to carbon monoxide poisoning"
* https://www.orpha.net#308487 "Generalized galactose epimerase deficiency"
* https://www.orpha.net#309239 "Tay-Sachs disease, B1 variant"
* https://www.orpha.net#309263 "Metachromatic leukodystrophy, juvenile form"
* https://www.orpha.net#313850 "Infantile cerebellar-retinal degeneration"
* https://www.orpha.net#313884 "12p12.1 microdeletion syndrome"
* https://www.orpha.net#313906 "Congenital pancreatic cyst"
* https://www.orpha.net#313936 "PENS syndrome"
* https://www.orpha.net#314002 "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome"
* https://www.orpha.net#314041 "Marfanoid habitus-inguinal hernia-advanced bone age syndrome"
* https://www.orpha.net#314432 "Spigelian hernia-cryptorchidism syndrome"
* https://www.orpha.net#314466 "Atypical Meigs syndrome"
* https://www.orpha.net#314585 "15q overgrowth syndrome"
* https://www.orpha.net#314718 "Lethal arteriopathy syndrome due to fibulin-4 deficiency"
* https://www.orpha.net#314811 "Short stature due to GHSR deficiency"
* https://www.orpha.net#314978 "X-linked non progressive cerebellar ataxia"
* https://www.orpha.net#319223 "Argentine hemorrhagic fever"
* https://www.orpha.net#319244 "Chapare hemorrhagic fever"
* https://www.orpha.net#319266 "Omsk hemorrhagic fever"
* https://www.orpha.net#319332 "Autosomal recessive myogenic arthrogryposis multiplex congenita"
* https://www.orpha.net#319547 "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"
* https://www.orpha.net#319640 "Retinal macular dystrophy type 2"
* https://www.orpha.net#319671 "Alazami syndrome"
* https://www.orpha.net#320401 "Autosomal recessive spastic paraplegia type 44"
* https://www.orpha.net#324299 "Multiple paragangliomas associated with polycythemia"
* https://www.orpha.net#324364 "Mixed sclerosing bone dystrophy with extra-skeletal manifestations"
* https://www.orpha.net#324416 "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"
* https://www.orpha.net#324442 "Autosomal recessive axonal neuropathy with neuromyotonia"
* https://www.orpha.net#324585 "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"
* https://www.orpha.net#324625 "Chikungunya"
* https://www.orpha.net#329178 "Congenital muscular dystrophy with intellectual disability and severe epilepsy"
* https://www.orpha.net#329224 "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome"
* https://www.orpha.net#329242 "Congenital chronic diarrhea with protein-losing enteropathy"
* https://www.orpha.net#329258 "Autosomal dominant Charcot-Marie-Tooth disease type 2Q"
* https://www.orpha.net#329314 "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"
* https://www.orpha.net#329457 "Distal arthrogryposis type 5D"
* https://www.orpha.net#329813 "Mosaic genome-wide paternal uniparental disomy"
* https://www.orpha.net#330041 "Hemoglobin M disease"
* https://www.orpha.net#330054 "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"
* https://www.orpha.net#330061 "Actinic prurigo"
* https://www.orpha.net#331190 "Immunodeficiency due to ficolin3 deficiency"
* https://www.orpha.net#352403 "Spectrin-associated autosomal recessive cerebellar ataxia"
* https://www.orpha.net#352470 "DNA2-related mitochondrial DNA deletion syndrome"
* https://www.orpha.net#352577 "Bainbridge-Ropers syndrome"
* https://www.orpha.net#352582 "Familial infantile myoclonic epilepsy"
* https://www.orpha.net#352662 "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"
* https://www.orpha.net#353253 "Burning mouth syndrome"
* https://www.orpha.net#353308 "Pyruvate carboxylase deficiency, infantile type"
* https://www.orpha.net#353320 "Pyruvate carboxylase deficiency, benign type"
* https://www.orpha.net#353327 "Congenital myasthenic syndromes with glycosylation defect"
* https://www.orpha.net#353344 "Idiopathic macular telangiectasia type 1"
* https://www.orpha.net#356947 "3q26q27 microdeletion syndrome"
* https://www.orpha.net#357001 "19p13.13 microdeletion syndrome"
* https://www.orpha.net#363558 "New-onset refractory status epilepticus"
* https://www.orpha.net#363705 "Craniofaciofrontodigital syndrome"
* https://www.orpha.net#363722 "Alexander disease type II"
* https://www.orpha.net#364063 "Infantile epileptic-dyskinetic encephalopathy"
* https://www.orpha.net#369852 "Congenital neutropenia-myelofibrosis-nephromegaly syndrome"
* https://www.orpha.net#369950 "Intellectual disability-seizures-macrocephaly-obesity syndrome"
* https://www.orpha.net#369955 "Methylmalonic acidemia with homocystinuria, type cblJ"
* https://www.orpha.net#369999 "Diffuse palmoplantar keratoderma with painful fissures"
* https://www.orpha.net#370046 "Didymosis aplasticosebacea"
* https://www.orpha.net#370079 "Proximal 16p11.2 microduplication syndrome"
* https://www.orpha.net#370127 "Medich giant platelet syndrome"
* https://www.orpha.net#370334 "Extraskeletal Ewing sarcoma"
* https://www.orpha.net#371007 "Congenital muscular dystrophy with hyperlaxity"
* https://www.orpha.net#371428 "Multicentric osteolysis-nodulosis-arthropathy spectrum"
* https://www.orpha.net#391311 "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency"
* https://www.orpha.net#391330 "X-linked osteoporosis with fractures"
* https://www.orpha.net#391389 "Familial episodic pain syndrome with predominantly upper body involvement"
* https://www.orpha.net#391397 "Hereditary sensory and autonomic neuropathy type 7"
* https://www.orpha.net#391677 "Short stature-optic atrophy-Pelger-Huët anomaly syndrome"
* https://www.orpha.net#394529 "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"
* https://www.orpha.net#397606 "PrP systemic amyloidosis"
* https://www.orpha.net#397755 "Periodic paralysis with transient compartment-like syndrome"
* https://www.orpha.net#397758 "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"
* https://www.orpha.net#398053 "Adenocarcinoma of the penis"
* https://www.orpha.net#398063 "Refractory celiac disease"
* https://www.orpha.net#399805 "Male infertility with azoospermia or oligozoospermia due to single gene mutation"
* https://www.orpha.net#401810 "Autosomal recessive spastic paraplegia type 64"
* https://www.orpha.net#401820 "Autosomal recessive spastic paraplegia type 67"
* https://www.orpha.net#401901 "Huntington disease-like syndrome due to C9ORF72 expansions"
* https://www.orpha.net#401953 "Episodic ataxia with slurred speech"
* https://www.orpha.net#401979 "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type"
* https://www.orpha.net#402026 "Acute myeloid leukemia with NPM1 somatic mutations"
* https://www.orpha.net#404476 "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"
* https://www.orpha.net#411634 "Juvenile nephropathic cystinosis"
* https://www.orpha.net#411777 "Generalized eruptive keratoacanthoma"
* https://www.orpha.net#411788 "Familial isolated trichomegaly"
* https://www.orpha.net#412189 "Epidermolysis bullosa simplex due to exophilin 5 deficiency"
* https://www.orpha.net#418959 "Squamous cell carcinoma of the stomach"
* https://www.orpha.net#420566 "Bleeding disorder due to CalDAG-GEFI deficiency"
* https://www.orpha.net#420611 "Transient myeloproliferative syndrome"
* https://www.orpha.net#422526 "Hereditary clear cell renal cell carcinoma"
* https://www.orpha.net#423717 "Cutaneous larva migrans"
* https://www.orpha.net#424002 "Squamous cell carcinoma of the rectum"
* https://www.orpha.net#424080 "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas"
* https://www.orpha.net#424107 "Congenital myopathy with myasthenic-like onset"
* https://www.orpha.net#424970 "Undifferentiated carcinoma of liver and intrahepatic biliary tract"
* https://www.orpha.net#424996 "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract"
* https://www.orpha.net#425120 "STING-associated vasculopathy with onset in infancy"
* https://www.orpha.net#435372 "Anterior urethral valve"
* https://www.orpha.net#435938 "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"
* https://www.orpha.net#436141 "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"
* https://www.orpha.net#436242 "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"
* https://www.orpha.net#436271 "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"
* https://www.orpha.net#438216 "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"
* https://www.orpha.net#439212 "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"
* https://www.orpha.net#439232 "AApoAIV amyloidosis"
* https://www.orpha.net#440221 "Congenital oculomotor nerve palsy"
* https://www.orpha.net#440427 "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"
* https://www.orpha.net#442582 "AH amyloidosis"
* https://www.orpha.net#443087 "46,XY difference of sex development due to testicular 17,20-desmolase deficiency"
* https://www.orpha.net#443197 "X-linked erythropoietic protoporphyria"
* https://www.orpha.net#443811 "PGM3-CDG"
* https://www.orpha.net#443950 "DNAJB2-related Charcot-Marie-Tooth disease type 2"
* https://www.orpha.net#444458 "Combined oxidative phosphorylation defect type 24"
* https://www.orpha.net#444463 "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome"
* https://www.orpha.net#447753 "Autosomal dominant spastic paraplegia type 9A"
* https://www.orpha.net#447881 "Idiopathic dropped head syndrome"
* https://www.orpha.net#447964 "Autosomal dominant Charcot-Marie-Tooth disease type 2V"
* https://www.orpha.net#448270 "Ectopia cordis"
* https://www.orpha.net#454710 "Anti-p200 pemphigoid"
* https://www.orpha.net#454742 "Variably protease-sensitive prionopathy"
* https://www.orpha.net#456298 "1p35.2 microdeletion syndrome"
* https://www.orpha.net#5 "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"
* https://www.orpha.net#14 "Abetalipoproteinemia"
* https://www.orpha.net#17 "Fatal infantile lactic acidosis with methylmalonic aciduria"
* https://www.orpha.net#24 "Fumaric aciduria"
* https://www.orpha.net#41 "Dyschromatosis symmetrica hereditaria"
* https://www.orpha.net#50 "Aicardi syndrome"
* https://www.orpha.net#67 "Amoebiasis due to Entamoeba histolytica"
* https://www.orpha.net#74 "Angiostrongyliasis"
* https://www.orpha.net#82 "Hereditary thrombophilia due to congenital antithrombin deficiency"
* https://www.orpha.net#101 "Dentatorubral pallidoluysian atrophy"
* https://www.orpha.net#107 "BOR syndrome"
* https://www.orpha.net#110 "Bardet-Biedl syndrome"
* https://www.orpha.net#119 "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4"
* https://www.orpha.net#125 "Bloom syndrome"
* https://www.orpha.net#127 "Borjeson-Forssman-Lehmann syndrome"
* https://www.orpha.net#133 "Chronic beryllium disease"
* https://www.orpha.net#136 "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy"
* https://www.orpha.net#138 "CHARGE syndrome"
* https://www.orpha.net#140 "Campomelic dysplasia"
* https://www.orpha.net#464458 "Paracetamol poisoning"
* https://www.orpha.net#464756 "Familial gastric type 1 neuroendocrine tumor"
* https://www.orpha.net#464760 "Familial cavitary optic disc anomaly"
* https://www.orpha.net#466775 "Autosomal recessive Charcot-Marie-Tooth disease type 2X"
* https://www.orpha.net#467176 "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"
* https://www.orpha.net#468661 "Autosomal recessive spastic paraplegia type 74"
* https://www.orpha.net#468684 "CCDC115-CDG"
* https://www.orpha.net#468726 "Severe primary trimethylaminuria"
* https://www.orpha.net#476102 "Hereditary pediatric Behçet-like disease"
* https://www.orpha.net#477673 "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"
* https://www.orpha.net#477781 "Primary condylar hyperplasia"
* https://www.orpha.net#477831 "Kosaki overgrowth syndrome"
* https://www.orpha.net#480476 "Progressive familial intrahepatic cholestasis type 5"
* https://www.orpha.net#480541 "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement"
* https://www.orpha.net#480682 "POGLUT1-related limb-girdle muscular dystrophy R21"
* https://www.orpha.net#485275 "Acquired schizencephaly"
* https://www.orpha.net#488232 "Split-foot malformation-mesoaxial polydactyly syndrome"
* https://www.orpha.net#488280 "14q32 duplication syndrome"
* https://www.orpha.net#488434 "Camptodactyly syndrome, Guadalajara type 3"
* https://www.orpha.net#488647 "DDX41-related hematologic malignancy predisposition syndrome"
* https://www.orpha.net#493342 "Vibratory urticaria"
* https://www.orpha.net#494344 "RERE-related neurodevelopmental syndrome"
* https://www.orpha.net#494439 "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"
* https://www.orpha.net#495930 "Familial monosomy 7 syndrome"
* https://www.orpha.net#496693 "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome"
* https://www.orpha.net#496751 "EVEN-plus syndrome"
* https://www.orpha.net#497906 "Childhood-onset basal ganglia degeneration syndrome"
* https://www.orpha.net#498481 "LRP5-related primary osteoporosis"
* https://www.orpha.net#499096 "Isolated optic neuritis"
* https://www.orpha.net#500062 "Infantile-onset periodic fever-panniculitis-dermatosis syndrome"
* https://www.orpha.net#500478 "Squamous cell carcinoma of the oropharynx"
* https://www.orpha.net#502318 "Cochlear nerve deficiency"
* https://www.orpha.net#502444 "Alkaline ceramidase 3 deficiency"
* https://www.orpha.net#504530 "Combined immunodeficiency due to Moesin deficiency"
* https://www.orpha.net#505248 "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders"
* https://www.orpha.net#506112 "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas"
* https://www.orpha.net#506334 "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency"
* https://www.orpha.net#512260 "Congenital cerebellar ataxia due to RNU12 mutation"
* https://www.orpha.net#513436 "Autosomal recessive spastic paraplegia type 78"
* https://www.orpha.net#519386 "Isolated congenital entropion"
* https://www.orpha.net#519396 "Isolated microspherophakia"
* https://www.orpha.net#521123 "Radiation-induced plexopathy"
* https://www.orpha.net#521406 "Dystonia-parkinsonism-hypermanganesemia syndrome"
* https://www.orpha.net#521432 "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"
* https://www.orpha.net#525738 "Prepubertal anorexia nervosa"
* https://www.orpha.net#527276 "Encephalopathy due to mitochondrial and peroxisomal fission defect"
* https://www.orpha.net#528647 "Hereditary angioedema with normal C1Inh"
* https://www.orpha.net#529808 "Chronic bilirubin encephalopathy"
* https://www.orpha.net#536467 "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome"
* https://www.orpha.net#538866 "Pustular pyoderma gangrenosum"
* https://www.orpha.net#555407 "NAD(P)HX epimerase deficiency"
* https://www.orpha.net#556955 "Pancreatic agenesis-holoprosencephaly syndrome"
* https://www.orpha.net#563589 "Seronegative autoimmune hepatitis"
* https://www.orpha.net#563609 "Isolated anencephaly"
* https://www.orpha.net#174 "Metaphyseal chondrodysplasia, Schmid type"
* https://www.orpha.net#179 "Birdshot chorioretinopathy"
* https://www.orpha.net#191 "Cockayne syndrome"
* https://www.orpha.net#204 "Sporadic Creutzfeldt-Jakob disease"
* https://www.orpha.net#205 "Crigler-Najjar syndrome"
* https://www.orpha.net#210 "Cyclosporiasis"
* https://www.orpha.net#234 "Dubin-Johnson syndrome"
* https://www.orpha.net#236 "Trisomy 9p"
* https://www.orpha.net#237 "Duplication of urethra"
* https://www.orpha.net#243 "46,XX gonadal dysgenesis"
* https://www.orpha.net#244 "Primary ciliary dyskinesia"
* https://www.orpha.net#248 "Autosomal recessive hypohidrotic ectodermal dysplasia"
* https://www.orpha.net#258 "Laminin subunit alpha 2-related congenital muscular dystrophy"
* https://www.orpha.net#270 "Oculopharyngeal muscular dystrophy"
* https://www.orpha.net#283 "Demodicidosis"
* https://www.orpha.net#298 "Mitochondrial neurogastrointestinal encephalomyopathy"
* https://www.orpha.net#320 "Apparent mineralocorticoid excess"
* https://www.orpha.net#321 "Multiple osteochondromas"
* https://www.orpha.net#325 "Congenital factor II deficiency"
* https://www.orpha.net#346 "Quinquaud folliculitis decalvans"
* https://www.orpha.net#365 "Glycogen storage disease due to acid maltase deficiency"
* https://www.orpha.net#367 "Glycogen storage disease due to glycogen branching enzyme deficiency"
* https://www.orpha.net#369 "Glycogen storage disease due to liver glycogen phosphorylase deficiency"
* https://www.orpha.net#415 "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"
* https://www.orpha.net#425 "Apolipoprotein A-I deficiency"
* https://www.orpha.net#447 "Paroxysmal nocturnal hemoglobinuria"
* https://www.orpha.net#504 "Creeping myiasis"
* https://www.orpha.net#507 "Leishmaniasis"
* https://www.orpha.net#526 "Liddle syndrome"
* https://www.orpha.net#563 "Peripartum cardiomyopathy"
* https://www.orpha.net#575 "Muckle-Wells syndrome"
* https://www.orpha.net#582 "Mucopolysaccharidosis type 4"
* https://www.orpha.net#590 "Congenital myasthenic syndrome"
* https://www.orpha.net#598 "Multiminicore myopathy"
* https://www.orpha.net#610 "Bethlem myopathy"
* https://www.orpha.net#617 "Congenital primary megaureter"
* https://www.orpha.net#637 "Full NF2-related schwannomatosis"
* https://www.orpha.net#640 "Hereditary neuropathy with liability to pressure palsies"
* https://www.orpha.net#652 "Multiple endocrine neoplasia type 1"
* https://www.orpha.net#664 "Ornithine transcarbamylase deficiency"
* https://www.orpha.net#666 "Osteogenesis imperfecta"
* https://www.orpha.net#683 "Progressive supranuclear palsy"
* https://www.orpha.net#699 "Pearson syndrome"
* https://www.orpha.net#700 "Alopecia totalis"
* https://www.orpha.net#709 "Peters plus syndrome"
* https://www.orpha.net#743 "Severe hereditary thrombophilia due to congenital protein S deficiency"
* https://www.orpha.net#744 "Proteus syndrome"
* https://www.orpha.net#750 "Pseudoachondroplasia"
* https://www.orpha.net#757 "Pseudohypoaldosteronism type 2"
* https://www.orpha.net#769 "Rabson-Mendenhall syndrome"
* https://www.orpha.net#773 "Refsum disease"
* https://www.orpha.net#566396 "Chronic mast cell leukemia"
* https://www.orpha.net#566841 "Liver adenomatosis"
* https://www.orpha.net#568065 "EPHB4-related lymphatic-related hydrops fetalis"
* https://www.orpha.net#572013 "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"
* https://www.orpha.net#576227 "Complete atrioventricular septal defect without ventricular hypoplasia"
* https://www.orpha.net#585867 "Acute myeloid leukemia with t(9;22)(q34.1;q11.2)"
* https://www.orpha.net#585909 "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"
* https://www.orpha.net#585918 "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)"
* https://www.orpha.net#585936 "B-lymphoblastic leukemia/lymphoma with hyperdiploidy"
* https://www.orpha.net#586130 "Sporadic fatal insomnia"
* https://www.orpha.net#592900 "Acute disseminated encephalomyelitis without anti-MOG antibodies"
* https://www.orpha.net#595109 "Atypical Timothy syndrome"
* https://www.orpha.net#595356 "Localized dystrophic epidermolysis bullosa"
* https://www.orpha.net#597874 "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"
* https://www.orpha.net#598164 "FOXG1 syndrome due to intragenic alteration"
* https://www.orpha.net#599501 "Acquired factor X deficiency"
* https://www.orpha.net#599507 "Acquired factor XI deficiency"
* https://www.orpha.net#600194 "Factor V Atlanta bleeding disorder"
* https://www.orpha.net#601008 "Non-syndromic anorectal malformation with anal stenosis"
* https://www.orpha.net#601018 "Non-syndromic anorectal malformation with rectal atresia"
* https://www.orpha.net#615964 "Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate"
* https://www.orpha.net#617304 "Amniotic fluid embolism"
* https://www.orpha.net#619367 "SAMD9L-associated autoinflammatory syndrome"
* https://www.orpha.net#620102 "Non-syndromic unicoronal craniosynostosis"
* https://www.orpha.net#620368 "EGF-related primary hypomagnesemia with intellectual disability"
* https://www.orpha.net#624244 "Postinfectious cerebellitis"
* https://www.orpha.net#631076 "Autosomal recessive spastic paraplegia type 83"
* https://www.orpha.net#634475 "Mosaic NF2-related schwannomatosis"
* https://www.orpha.net#641361 "Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome"
* https://www.orpha.net#641496 "Childhood-onset schizophrenia"
* https://www.orpha.net#642976 "Perrault syndrome type 2"
* https://www.orpha.net#645343 "Non-saccular limited dorsal myeloschisis"
* https://www.orpha.net#645359 "Intramedullary non-dysraphic spinal cord lipoma"
* https://www.orpha.net#645398 "Myeloschisis"
* https://www.orpha.net#646113 "Intermediate collagen VI-related muscular dystrophy"
* https://www.orpha.net#647667 "Mandibuloacral dysplasia associated to MTX2"
* https://www.orpha.net#781 "Q fever"
* https://www.orpha.net#792 "X-linked retinoschisis"
* https://www.orpha.net#794 "Saethre-Chotzen syndrome"
* https://www.orpha.net#829 "Adult-onset Still disease"
* https://www.orpha.net#839 "Congenital nephrotic syndrome, Finnish type"
* https://www.orpha.net#852 "X-linked thrombocytopenia with normal platelets"
* https://www.orpha.net#860 "Congenitally uncorrected transposition of the great arteries"
* https://www.orpha.net#861 "Treacher-Collins syndrome"
* https://www.orpha.net#871 "Familial progressive cardiac conduction defect"
* https://www.orpha.net#883 "Extragonadal teratoma"
* https://www.orpha.net#916 "Aase-Smith syndrome"
* https://www.orpha.net#927 "Hyperammonemia due to N-acetylglutamate synthase deficiency"
* https://www.orpha.net#941 "D-glyceric aciduria"
* https://www.orpha.net#970 "Hereditary sensory and autonomic neuropathy type 2"
* https://www.orpha.net#1001 "2q37 microdeletion syndrome"
* https://www.orpha.net#1028 "Amelo-onycho-hypohidrotic syndrome"
* https://www.orpha.net#1035 "Beta-mercaptolactate cysteine disulfiduria"
* https://www.orpha.net#1041 "Hydrops fetalis"
* https://www.orpha.net#1046 "Lethal hemolytic anemia-genital anomalies syndrome"
* https://www.orpha.net#1078 "Thumb stiffness-brachydactyly-intellectual disability syndrome"
* https://www.orpha.net#1094 "Anonychia-microcephaly syndrome"
* https://www.orpha.net#1113 "Aphalangy-syndactyly-microcephaly syndrome"
* https://www.orpha.net#1114 "Aplasia cutis congenita"
* https://www.orpha.net#1123 "Caudal appendage-deafness syndrome"
* https://www.orpha.net#1126 "Aprosencephaly cerebellar dysgenesis"
* https://www.orpha.net#1154 "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"
* https://www.orpha.net#1168 "Ataxia-oculomotor apraxia type 1"
* https://www.orpha.net#1175 "X-linked progressive cerebellar ataxia"
* https://www.orpha.net#1187 "Lethal ataxia with deafness and optic atrophy"
* https://www.orpha.net#1190 "Atelosteogenesis type I"
* https://www.orpha.net#1203 "Duodenal atresia"
* https://www.orpha.net#1228 "Banki syndrome"
* https://www.orpha.net#1246 "Brachydactyly-nystagmus-cerebellar ataxia syndrome"
* https://www.orpha.net#1247 "Schistosomiasis"
* https://www.orpha.net#1303 "Bronchiolitis obliterans with obstructive pulmonary disease"
* https://www.orpha.net#1309 "Medullary sponge kidney"
* https://www.orpha.net#1313 "Infantile choroidocerebral calcification syndrome"
* https://www.orpha.net#1319 "Camptobrachydactyly"
* https://www.orpha.net#1338 "Heart defect-tongue hamartoma-polysyndactyly syndrome"
* https://www.orpha.net#1406 "Charlie M syndrome"
* https://www.orpha.net#1423 "Lethal recessive chondrodysplasia"
* https://www.orpha.net#1441 "Ring chromosome 17 syndrome"
* https://www.orpha.net#1446 "Ring chromosome 22 syndrome"
* https://www.orpha.net#1448 "Ring chromosome 6 syndrome"
* https://www.orpha.net#1457 "Aorta coarctation"
* https://www.orpha.net#1464 "Univentricular heart"
* https://www.orpha.net#1473 "Uveal coloboma-cleft lip and palate-intellectual disability"
* https://www.orpha.net#1488 "Cooper-Jabs syndrome"
* https://www.orpha.net#1495 "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome"
* https://www.orpha.net#1507 "Autosomal recessive Robinow syndrome"
* https://www.orpha.net#1532 "Gómez-López-Hernández syndrome"
* https://www.orpha.net#1545 "Crisponi syndrome"
* https://www.orpha.net#1548 "Cryptorchidism-arachnodactyly-intellectual disability syndrome"
* https://www.orpha.net#1571 "Knobloch syndrome"
* https://www.orpha.net#1596 "Distal deletion 15q"
* https://www.orpha.net#1597 "Distal deletion 17q"
* https://www.orpha.net#1646 "Partial chromosome Y deletion"
* https://www.orpha.net#1675 "Dihydropyrimidine dehydrogenase deficiency"
* https://www.orpha.net#1699 "Trisomy 12p"
* https://www.orpha.net#1724 "Mosaic trisomy 20"
* https://www.orpha.net#1727 "22q11.2 duplication syndrome"
* https://www.orpha.net#1802 "Ghosal hematodiaphyseal dysplasia"
* https://www.orpha.net#1808 "Hidrotic ectodermal dysplasia, Christianson-Fourie type"
* https://www.orpha.net#1871 "Progressive cone dystrophy"
* https://www.orpha.net#1883 "Ectodermal dysplasia-sensorineural deafness syndrome"
* https://www.orpha.net#1908 "Aminopterin/methotrexate embryofetopathy"
* https://www.orpha.net#1911 "Cocaine embryofetopathy"
* https://www.orpha.net#1920 "Toluene embryopathy"
* https://www.orpha.net#1935 "Early myoclonic encephalopathy"
* https://www.orpha.net#1945 "Rolandic epilepsy"
* https://www.orpha.net#1979 "Lipodystrophy due to peptidic growth factors deficiency"
* https://www.orpha.net#1993 "Pai syndrome"
* https://www.orpha.net#2010 "Cleft palate-stapes fixation-oligodontia syndrome"
* https://www.orpha.net#2045 "FLOTCH syndrome"
* https://www.orpha.net#2047 "Flynn-Aird syndrome"
* https://www.orpha.net#2052 "Fraser syndrome"
* https://www.orpha.net#2064 "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome"
* https://www.orpha.net#2078 "Geroderma osteodysplastica"
* https://www.orpha.net#2097 "Grant syndrome"
* https://www.orpha.net#2145 "Craniosynostosis, Herrmann-Opitz type"
* https://www.orpha.net#2165 "Holoprosencephaly-caudal dysgenesis syndrome"
* https://www.orpha.net#2167 "Holzgreve syndrome"
* https://www.orpha.net#2176 "Infantile systemic hyalinosis"
* https://www.orpha.net#2184 "Hydrocephaly-low insertion umbilicus syndrome"
* https://www.orpha.net#2186 "Hydrocephalus-blue sclerae-nephropathy syndrome"
* https://www.orpha.net#2222 "Hypertrichosis lanuginosa congenita"
* https://www.orpha.net#2249 "Ulna hypoplasia-intellectual disability syndrome"
* https://www.orpha.net#2253 "Foveal hypoplasia-presenile cataract syndrome"
* https://www.orpha.net#2289 "Neuronal intranuclear inclusion disease"
* https://www.orpha.net#2297 "Insulin-resistance syndrome type A"
* https://www.orpha.net#2305 "Isotretinoin syndrome"
* https://www.orpha.net#2322 "Kabuki syndrome"
* https://www.orpha.net#2407 "Laryngo-onycho-cutaneous syndrome"
* https://www.orpha.net#2412 "Dislocation of the hip-dysmorphism syndrome"
* https://www.orpha.net#2420 "Primary pulmonary lymphoma"
* https://www.orpha.net#2457 "Mandibuloacral dysplasia"
* https://www.orpha.net#2471 "McDonough syndrome"
* https://www.orpha.net#2477 "Megalencephaly"
* https://www.orpha.net#2478 "Megalencephalic leukoencephalopathy with subcortical cysts"
* https://www.orpha.net#2481 "Neurocutaneous melanocytosis"
* https://www.orpha.net#2496 "Mesomelia-synostoses syndrome"
* https://www.orpha.net#2504 "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"
* https://www.orpha.net#2505 "Multiple benign circumferential skin creases on limbs"
* https://www.orpha.net#2519 "Microcephaly-seizures-intellectual disability-heart disease syndrome"
* https://www.orpha.net#2533 "Microcephaly-deafness-intellectual disability syndrome"
* https://www.orpha.net#2565 "Mononen-Karnes-Senac syndrome"
* https://www.orpha.net#2584 "Classic mycosis fungoides"
* https://www.orpha.net#2593 "Tubular aggregate myopathy"
* https://www.orpha.net#2634 "Mesomelic dwarfism, Reinhardt-Pfeiffer type"
* https://www.orpha.net#2635 "Metatropic dysplasia"
* https://www.orpha.net#2686 "Cyclic neutropenia"
* https://www.orpha.net#2707 "Oculocerebrofacial syndrome, Kaufman type"
* https://www.orpha.net#2720 "Oculocerebral hypopigmentation syndrome, Preus type"
* https://www.orpha.net#2733 "Omodysplasia"
* https://www.orpha.net#2744 "Horizontal gaze palsy with progressive scoliosis"
* https://www.orpha.net#2753 "Orofaciodigital syndrome type 4"
* https://www.orpha.net#2756 "Orofaciodigital syndrome type 10"
* https://www.orpha.net#2768 "Blount disease"
* https://www.orpha.net#2772 "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome"
* https://www.orpha.net#2783 "Autosomal dominant osteopetrosis type 1"
* https://www.orpha.net#2790 "Endosteal hyperostosis, Worth type"
* https://www.orpha.net#2791 "Otodental syndrome"
* https://www.orpha.net#2796 "Pachydermoperiostosis"
* https://www.orpha.net#2867 "Short stature, Brussels type"
* https://www.orpha.net#2875 "Phakomatosis pigmentovascularis"
* https://www.orpha.net#2878 "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome"
* https://www.orpha.net#2896 "Pitt-Hopkins syndrome"
* https://www.orpha.net#2924 "Isolated polycystic liver disease"
* https://www.orpha.net#2947 "Triphalangeal thumbs-brachyectrodactyly syndrome"
* https://www.orpha.net#2966 "Properdin deficiency"
* https://www.orpha.net#2972 "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome"
* https://www.orpha.net#2975 "46,XX difference of sex development-skeletal anomalies syndrome"
* https://www.orpha.net#2985 "Pseudoprogeria syndrome"
* https://www.orpha.net#3019 "Ramon syndrome"
* https://www.orpha.net#3026 "Radial ray hypoplasia-choanal atresia syndrome"
* https://www.orpha.net#3097 "Meacham syndrome"
* https://www.orpha.net#3110 "Rombo syndrome"
* https://www.orpha.net#3129 "Sarcosinemia"
* https://www.orpha.net#3143 "Autoimmune polyendocrinopathy type 2"
* https://www.orpha.net#3168 "Sillence syndrome"
* https://www.orpha.net#3173 "Infantile spasms-broad thumbs syndrome"
* https://www.orpha.net#3176 "Spina bifida-hypospadias syndrome"
* https://www.orpha.net#3184 "Steatocystoma multiplex-natal teeth syndrome"
* https://www.orpha.net#3200 "Arthrogryposis-ectodermal dysplasia syndrome"
* https://www.orpha.net#3201 "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome"
* https://www.orpha.net#3207 "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome"
* https://www.orpha.net#3210 "Summitt syndrome"
* https://www.orpha.net#3235 "Progressive deafness with stapes fixation"
* https://www.orpha.net#3238 "Cardiospondylocarpofacial syndrome"
* https://www.orpha.net#3239 "Deafness-vitiligo-achalasia syndrome"
* https://www.orpha.net#3318 "Essential thrombocythemia"
* https://www.orpha.net#3338 "Toriello-Carey syndrome"
* https://www.orpha.net#3342 "Arterial tortuosity syndrome"
* https://www.orpha.net#3369 "Trigonocephaly-short stature-developmental delay syndrome"
* https://www.orpha.net#3400 "Aorto-ventricular tunnel"
* https://www.orpha.net#3433 "Microcephaly-brachydactyly-kyphoscoliosis syndrome"
* https://www.orpha.net#3463 "Wolfram syndrome"
* https://www.orpha.net#3469 "XK aprosencephaly syndrome"
* https://www.orpha.net#26791 "Multiple acyl-CoA dehydrogenase deficiency"
* https://www.orpha.net#29207 "Reactive arthritis"
* https://www.orpha.net#30924 "Primary hypomagnesemia with secondary hypocalcemia"
* https://www.orpha.net#31043 "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"
* https://www.orpha.net#31205 "Rat-bite fever"
* https://www.orpha.net#31837 "Pulmonary venoocclusive disease"
* https://www.orpha.net#33110 "Autosomal agammaglobulinemia"
* https://www.orpha.net#33402 "Pediatric hepatocellular carcinoma"
* https://www.orpha.net#33408 "Bullous lichen planus"
* https://www.orpha.net#33543 "Kleine-Levin syndrome"
* https://www.orpha.net#34217 "Naxos disease"
* https://www.orpha.net#35122 "Congenital sucrase-isomaltase deficiency"
* https://www.orpha.net#35686 "Serpiginous choroiditis"
* https://www.orpha.net#35687 "Erdheim-Chester disease"
* https://www.orpha.net#36235 "Staphylococcal scarlet fever"
* https://www.orpha.net#36913 "Autoimmune hypoparathyroidism"
* https://www.orpha.net#37559 "Acquired kinky hair syndrome"
* https://www.orpha.net#42642 "PFAPA syndrome"
* https://www.orpha.net#45452 "Idiopathic neonatal atrial flutter"
* https://www.orpha.net#46487 "Epidermolysis bullosa acquisita"
* https://www.orpha.net#48162 "Lewis-Sumner syndrome"
* https://www.orpha.net#48818 "Aceruloplasminemia"
* https://www.orpha.net#50810 "Microlissencephaly-micromelia syndrome"
* https://www.orpha.net#52055 "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"
* https://www.orpha.net#52417 "MALT lymphoma"
* https://www.orpha.net#53689 "Congenital chloride diarrhea"
* https://www.orpha.net#53690 "Congenital lactase deficiency"
* https://www.orpha.net#53715 "Familial tumoral calcinosis"
* https://www.orpha.net#55881 "Adamantinoma"
* https://www.orpha.net#57777 "Cirrhotic cardiomyopathy"
* https://www.orpha.net#57782 "Mazabraud syndrome"
* https://www.orpha.net#60026 "Pulmonary nodular lymphoid hyperplasia"
* https://www.orpha.net#60030 "Loeys-Dietz syndrome"
* https://www.orpha.net#60041 "Congenital heart block"
* https://www.orpha.net#63259 "Iniencephaly"
* https://www.orpha.net#63260 "Craniorachischisis"
* https://www.orpha.net#64545 "Benign idiopathic neonatal seizures"
* https://www.orpha.net#64694 "Trench fever"
* https://www.orpha.net#64739 "Ovarian hyperstimulation syndrome"
* https://www.orpha.net#64745 "Pruritic urticarial papules and plaques of pregnancy"
* https://www.orpha.net#64755 "Becker nevus syndrome"
* https://www.orpha.net#65282 "Carvajal syndrome"
* https://www.orpha.net#66637 "Diaphanospondylodysostosis"
* https://www.orpha.net#66662 "Extracutaneous mastocytoma"
* https://www.orpha.net#69061 "Idiopathic steroid-sensitive nephrotic syndrome"
* https://www.orpha.net#69083 "Ectodermal dysplasia with natal teeth, Turnpenny type"
* https://www.orpha.net#69088 "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"
* https://www.orpha.net#69723 "Tyrosinemia type 3"
* https://www.orpha.net#70476 "Vernal keratoconjunctivitis"
* https://www.orpha.net#70567 "Cholangiocarcinoma"
* https://www.orpha.net#70573 "Small cell lung cancer"
* https://www.orpha.net#70590 "Infantile apnea"
* https://www.orpha.net#70593 "Immunodeficiency due to selective anti-polysaccharide antibody deficiency"
* https://www.orpha.net#71289 "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"
* https://www.orpha.net#71493 "Familial thrombocytosis"
* https://www.orpha.net#75389 "Brain malformation-congenital heart disease-postaxial polydactyly syndrome"
* https://www.orpha.net#75567 "Primary progressive freezing gait"
* https://www.orpha.net#77259 "Gaucher disease type 1"
* https://www.orpha.net#77261 "Gaucher disease type 3"
* https://www.orpha.net#77296 "Morgagni-Stewart-Morel syndrome"
* https://www.orpha.net#77299 "Microphthalmia-brain atrophy syndrome"
* https://www.orpha.net#79087 "Acquired partial lipodystrophy"
* https://www.orpha.net#79106 "Eiken syndrome"
* https://www.orpha.net#79138 "Bickerstaff brainstem encephalitis"
* https://www.orpha.net#79151 "Acrokeratosis verruciformis of Hopf"
* https://www.orpha.net#79239 "Classic galactosemia"
* https://www.orpha.net#79254 "Classic phenylketonuria"
* https://www.orpha.net#79272 "Sanfilippo syndrome type D"
* https://www.orpha.net#79312 "Vitamin B12-unresponsive methylmalonic acidemia type mut-"
* https://www.orpha.net#79322 "DPM1-CDG"
* https://www.orpha.net#79324 "ALG12-CDG"
* https://www.orpha.net#79408 "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form"
* https://www.orpha.net#79478 "Griscelli syndrome type 3"
* https://www.orpha.net#79481 "Pemphigus foliaceus"
* https://www.orpha.net#79506 "Cholesterol-ester transfer protein deficiency"
* https://www.orpha.net#79644 "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency"
* https://www.orpha.net#83316 "Pseudotyphus of California"
* https://www.orpha.net#83619 "Macrostomia-preauricular tags-external ophthalmoplegia syndrome"
* https://www.orpha.net#83639 "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"
* https://www.orpha.net#85112 "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"
* https://www.orpha.net#85163 "Hypomyelination-congenital cataract syndrome"
* https://www.orpha.net#85165 "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome"
* https://www.orpha.net#85188 "Metaphyseal dysplasia, Braun-Tinschert type"
* https://www.orpha.net#85192 "Calvarial doughnut lesions-bone fragility syndrome"
* https://www.orpha.net#85194 "Spondylo-ocular syndrome"
* https://www.orpha.net#85197 "Genochondromatosis type 1"
* https://www.orpha.net#85282 "MEHMO syndrome"
* https://www.orpha.net#85292 "X-linked spinocerebellar ataxia type 4"
* https://www.orpha.net#85319 "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"
* https://www.orpha.net#85320 "X-linked intellectual disability-macrocephaly-macroorchidism syndrome"
* https://www.orpha.net#85327 "X-linked intellectual disability-acromegaly-hyperactivity syndrome"
* https://www.orpha.net#85329 "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"
* https://www.orpha.net#85332 "X-linked intellectual disability-retinitis pigmentosa syndrome"
* https://www.orpha.net#85335 "Fried syndrome"
* https://www.orpha.net#85438 "Enthesitis-related juvenile idiopathic arthritis"
* https://www.orpha.net#85450 "Hereditary amyloidosis with primary renal involvement"
* https://www.orpha.net#86813 "Helicoid peripapillary chorioretinal degeneration"
* https://www.orpha.net#86834 "Juvenile myelomonocytic leukemia"
* https://www.orpha.net#86841 "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"
* https://www.orpha.net#86849 "Acute basophilic leukemia"
* https://www.orpha.net#86852 "B-cell prolymphocytic leukemia"
* https://www.orpha.net#86870 "Blastic plasmacytoid dendritic cell neoplasm"
* https://www.orpha.net#86908 "Idiopathic hemiconvulsion-hemiplegia syndrome"
* https://www.orpha.net#86920 "Dermatopathia pigmentosa reticularis"
* https://www.orpha.net#88618 "S-adenosylhomocysteine hydrolase deficiency"
* https://www.orpha.net#88628 "Posterior column ataxia-retinitis pigmentosa syndrome"
* https://www.orpha.net#88630 "Terminal osseous dysplasia-pigmentary defects syndrome"
* https://www.orpha.net#88643 "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"
* https://www.orpha.net#88950 "UMOD-related autosomal dominant tubulointerstitial kidney disease"
* https://www.orpha.net#89843 "Dystrophic epidermolysis bullosa pruriginosa"
* https://www.orpha.net#89938 "Bartter syndrome type 4"
* https://www.orpha.net#90026 "Primary erythromelalgia"
* https://www.orpha.net#90035 "Paroxysmal cold hemoglobinuria"
* https://www.orpha.net#90036 "Mixed-type autoimmune hemolytic anemia"
* https://www.orpha.net#90038 "Shiga toxin-associated hemolytic uremic syndrome"
* https://www.orpha.net#90041 "Gaisböck syndrome"
* https://www.orpha.net#90119 "Hereditary motor and sensory neuropathy with acrodystrophy"
* https://www.orpha.net#90157 "Drug-induced localized lipodystrophy"
* https://www.orpha.net#90282 "Hypertrophic or verrucous lupus erythematosus"
* https://www.orpha.net#90285 "Lupus erythematosus panniculitis"
* https://www.orpha.net#90307 "Parkes Weber syndrome"
* https://www.orpha.net#90647 "Jervell and Lange-Nielsen syndrome"
* https://www.orpha.net#90674 "Isolated thyroid-stimulating hormone deficiency"
* https://www.orpha.net#91136 "Acquired monoclonal Ig light chain-associated Fanconi syndrome"
* https://www.orpha.net#91140 "Unspecified juvenile idiopathic arthritis"
* https://www.orpha.net#93108 "Renal dysplasia"
* https://www.orpha.net#93114 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"
* https://www.orpha.net#93259 "Pfeiffer syndrome type 2"
* https://www.orpha.net#93260 "Pfeiffer syndrome type 3"
* https://www.orpha.net#93268 "Short rib-polydactyly syndrome, Beemer-Langer type"
* https://www.orpha.net#93269 "Short rib-polydactyly syndrome, Majewski type"
* https://www.orpha.net#93274 "Thanatophoric dysplasia type 2"
* https://www.orpha.net#93284 "Spondyloepiphyseal dysplasia tarda"
* https://www.orpha.net#93304 "Autosomal dominant brachyolmia"
* https://www.orpha.net#93325 "Autosomal dominant Kenny-Caffey syndrome"
* https://www.orpha.net#93329 "Autosomal recessive omodysplasia"
* https://www.orpha.net#93372 "Familial hypocalciuric hypercalcemia type 1"
* https://www.orpha.net#93388 "Brachydactyly type A1"
* https://www.orpha.net#93409 "Brachydactyly-syndactyly, Zhao type"
* https://www.orpha.net#93476 "Hurler-Scheie syndrome"
* https://www.orpha.net#93598 "Primary hyperoxaluria type 1"
* https://www.orpha.net#93608 "Autosomal dominant distal renal tubular acidosis"
* https://www.orpha.net#93622 "Dent disease type 1"
* https://www.orpha.net#93623 "Dent disease type 2"
* https://www.orpha.net#93672 "Juvenile dermatomyositis"
* https://www.orpha.net#93924 "Lobar holoprosencephaly"
* https://www.orpha.net#93938 "Laryngotracheoesophageal cleft type 1"
* https://www.orpha.net#93953 "Familial thyroglossal duct cyst"
* https://www.orpha.net#94059 "Uremic pruritus"
* https://www.orpha.net#94083 "Partington syndrome"
* https://www.orpha.net#94091 "Mills syndrome"
* https://www.orpha.net#94147 "Spinocerebellar ataxia type 7"
* https://www.orpha.net#95461 "Straddling or overriding tricuspid valve"
* https://www.orpha.net#95465 "Cleft mitral valve"
* https://www.orpha.net#95619 "Post-traumatic pituitary deficiency"
* https://www.orpha.net#95700 "Familial adrenal hypoplasia with absent pituitary luteinizing hormone"
* https://www.orpha.net#95717 "Idiopathic congenital hypothyroidism"
* https://www.orpha.net#96076 "Beckwith-Wiedemann syndrome due to 11p15 microduplication"
* https://www.orpha.net#96100 "Distal duplication 8q"
* https://www.orpha.net#96150 "Distal deletion 14q"
* https://www.orpha.net#96160 "Non-distal deletion 12q"
* https://www.orpha.net#96168 "Monosomy 13q34"
* https://www.orpha.net#96263 "48,XXXY syndrome"
* https://www.orpha.net#96265 "Leydig cell hypoplasia due to complete LH resistance"
* https://www.orpha.net#97244 "Rigid spine syndrome"
* https://www.orpha.net#97287 "Bronchial neuroendocrine tumor"
* https://www.orpha.net#97297 "Bohring-Opitz syndrome"
* https://www.orpha.net#97345 "ABri amyloidosis"
* https://www.orpha.net#97361 "Renal hypoplasia, unilateral"
* https://www.orpha.net#97560 "Primary membranous glomerulonephritis"
* https://www.orpha.net#98606 "Syndromic orbital border hypoplasia"
* https://www.orpha.net#98766 "Spinocerebellar ataxia type 5"
* https://www.orpha.net#98784 "Autosomal dominant nocturnal frontal lobe epilepsy"
* https://www.orpha.net#98793 "Prader-Willi syndrome due to paternal 15q11q13 deletion"
* https://www.orpha.net#98798 "Isochromosomy Yq"
* https://www.orpha.net#98808 "Autosomal dominant dopa-responsive dystonia"
* https://www.orpha.net#98825 "Unclassified myelodysplastic/myeloproliferative disease"
* https://www.orpha.net#98831 "Acute myeloid leukemia with 11q23 abnormalities"
* https://www.orpha.net#98841 "Anaplastic large cell lymphoma"
* https://www.orpha.net#98868 "Southeast Asian ovalocytosis"
* https://www.orpha.net#98872 "Primary acquired pure red cell aplasia"
* https://www.orpha.net#98880 "Familial afibrinogenemia"
* https://www.orpha.net#98897 "Oculopharyngodistal myopathy"
* https://www.orpha.net#98902 "Amish nemaline myopathy"
* https://www.orpha.net#98907 "Neutral lipid storage disease with ichthyosis"
* https://www.orpha.net#98922 "Blake pouch cyst"
* https://www.orpha.net#98942 "Coloboma of choroid and retina"
* https://www.orpha.net#98945 "Coloboma of macula"
* https://www.orpha.net#98964 "Lattice corneal dystrophy type I"
* https://www.orpha.net#98972 "Central cloudy dystrophy of François"
* https://www.orpha.net#98974 "Fuchs endothelial corneal dystrophy"
* https://www.orpha.net#98976 "Congenital glaucoma"
* https://www.orpha.net#98980 "Cogan-Reese syndrome"
* https://www.orpha.net#98994 "Total early-onset cataract"
* https://www.orpha.net#99001 "Butterfly-shaped pigment dystrophy"
* https://www.orpha.net#99003 "Multifocal pattern dystrophy simulating fundus flavimaculatus"
* https://www.orpha.net#99042 "Congenitally uncorrected transposition of the great arteries with coarctation"
* https://www.orpha.net#99045 "Double outlet right ventricle with subpulmonary ventricular septal defect"
* https://www.orpha.net#99064 "Straddling and/or overriding mitral valve"
* https://www.orpha.net#99068 "Complete atrioventricular septal defect-tetralogy of Fallot"
* https://www.orpha.net#99081 "Right aortic arch"
* https://www.orpha.net#99099 "Cor triatriatum sinister"
* https://www.orpha.net#99102 "Ectasia of the left atrial appendage"
* https://www.orpha.net#99121 "Azygos continuation of the inferior vena cava"
* https://www.orpha.net#99125 "Congenital total pulmonary venous return anomaly"
* https://www.orpha.net#99130 "Congenital partial agenesis of pericardium"
* https://www.orpha.net#99139 "Unstable hemoglobin disease"
* https://www.orpha.net#99324 "Paternal uniparental disomy of chromosome 13"
* https://www.orpha.net#99646 "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria"
* https://www.orpha.net#99672 "Fried's tooth and nail syndrome"
* https://www.orpha.net#99710 "Punctate acrokeratoderma freckle-like pigmentation"
* https://www.orpha.net#99749 "Kostmann syndrome"
* https://www.orpha.net#99796 "Subcortical band heterotopia"
* https://www.orpha.net#99810 "Familial porencephaly"
* https://www.orpha.net#99819 "Familial gestational hyperthyroidism"
* https://www.orpha.net#99880 "Hyperparathyroidism-jaw tumor syndrome"
* https://www.orpha.net#99907 "House allergic alveolitis"
* https://www.orpha.net#99914 "Gynandroblastoma"
* https://www.orpha.net#99920 "Acute graft versus host disease"
* https://www.orpha.net#99921 "Chronic graft versus host disease"
* https://www.orpha.net#99926 "Gestational choriocarcinoma"
* https://www.orpha.net#99971 "Well-differentiated liposarcoma"
* https://www.orpha.net#100008 "ACys amyloidosis"
* https://www.orpha.net#100019 "Refractory anemia with excess blasts type 1"
* https://www.orpha.net#100021 "Primary plasmacytoma of the bone"
* https://www.orpha.net#100022 "Extramedullary soft tissue plasmacytoma"
* https://www.orpha.net#100070 "Progressive non-fluent aphasia"
* https://www.orpha.net#100974 "FRAXF syndrome"
* https://www.orpha.net#100988 "Autosomal dominant spastic paraplegia type 6"
* https://www.orpha.net#100996 "Autosomal recessive spastic paraplegia type 15"
* https://www.orpha.net#101007 "Autosomal recessive spastic paraplegia type 27"
* https://www.orpha.net#101030 "Subependymal nodular heterotopia"
* https://www.orpha.net#101070 "Bilateral frontoparietal polymicrogyria"
* https://www.orpha.net#101078 "X-linked Charcot-Marie-Tooth disease type 4"
* https://www.orpha.net#101081 "Charcot-Marie-Tooth disease type 1A"
* https://www.orpha.net#101090 "Hyper-IgM syndrome type 3"
* https://www.orpha.net#101096 "Aregenerative anemia"
* https://www.orpha.net#101104 "Marin-Amat syndrome"
* https://www.orpha.net#103910 "Congenital enterocyte heparan sulfate deficiency"
* https://www.orpha.net#104078 "Unclassified intestinal pseudoobstruction"
* https://www.orpha.net#137888 "Auriculocondylar syndrome"
* https://www.orpha.net#139414 "Congenital panfollicular nevus"
* https://www.orpha.net#139436 "Multicentric reticulohistiocytosis"
* https://www.orpha.net#139515 "Charcot-Marie-Tooth disease type 4J"
* https://www.orpha.net#139564 "Hereditary sensory and autonomic neuropathy type 1B"
* https://www.orpha.net#139573 "Hereditary sensory and autonomic neuropathy with deafness and global delay"
* https://www.orpha.net#140922 "Titin-related limb-girdle muscular dystrophy R10"
* https://www.orpha.net#140966 "Palmoplantar keratoderma, Nagashima type"
* https://www.orpha.net#141037 "Fourth branchial cleft anomaly"
* https://www.orpha.net#141115 "Nasal ganglioglioma"
* https://www.orpha.net#141194 "Cerebrofacial arteriovenous metameric syndrome type 1"
* https://www.orpha.net#155878 "Submucosal cleft palate"
* https://www.orpha.net#156731 "Dyssegmental dysplasia, Rolland-Desbuquois type"
* https://www.orpha.net#157713 "Congenital or early infantile CACH syndrome"
* https://www.orpha.net#157716 "Late infantile CACH syndrome"
* https://www.orpha.net#158019 "Indeterminate cell histiocytosis"
* https://www.orpha.net#158029 "Sea-blue histiocytosis"
* https://www.orpha.net#163634 "Maffucci syndrome"
* https://www.orpha.net#163649 "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome"
* https://www.orpha.net#163662 "Spondyloepiphyseal dysplasia, Reardon type"
* https://www.orpha.net#163696 "Action myoclonus-renal failure syndrome"
* https://www.orpha.net#163746 "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease"
* https://www.orpha.net#164726 "Acute myeloid leukemia and myelodysplastic syndromes related to radiation"
* https://www.orpha.net#164736 "Familial advanced sleep-phase syndrome"
* https://www.orpha.net#166002 "Multiple epiphyseal dysplasia due to collagen 9 anomaly"
* https://www.orpha.net#166024 "Multiple epiphyseal dysplasia, Al-Gazali type"
* https://www.orpha.net#166038 "Metaphyseal chondrodysplasia, Kaitila type"
* https://www.orpha.net#166063 "Pontocerebellar hypoplasia type 4"
* https://www.orpha.net#166084 "Von Willebrand disease type 2A"
* https://www.orpha.net#166100 "Autosomal dominant otospondylomegaepiphyseal dysplasia"
* https://www.orpha.net#166108 "Intellectual disability, Birk-Barel type"
* https://www.orpha.net#166277 "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia"
* https://www.orpha.net#166291 "Dirofilariasis"
* https://www.orpha.net#168782 "Childhood disintegrative disorder"
* https://www.orpha.net#169095 "Severe combined immunodeficiency due to FOXN1 deficiency"
* https://www.orpha.net#169139 "Transient hypogammaglobulinemia of infancy"
* https://www.orpha.net#169467 "Recurrent Neisseria infections due to factor D deficiency"
* https://www.orpha.net#171436 "Typical nemaline myopathy"
* https://www.orpha.net#171445 "Muscle filaminopathy"
* https://www.orpha.net#171612 "Autosomal dominant spastic paraplegia type 37"
* https://www.orpha.net#171695 "Parkinsonian-pyramidal syndrome"
* https://www.orpha.net#171706 "Short stature-delayed bone age due to thyroid hormone metabolism deficiency"
* https://www.orpha.net#171829 "6q16 microdeletion syndrome"
* https://www.orpha.net#171851 "MEDNIK syndrome"
* https://www.orpha.net#171881 "Cap myopathy"
* https://www.orpha.net#171889 "Myopathy with hexagonally cross-linked tubular arrays"
* https://www.orpha.net#178506 "Brain calcification, Rajab type"
* https://www.orpha.net#178512 "Folliculotropic mycosis fungoides"
* https://www.orpha.net#178517 "Localized pagetoid reticulosis"
* https://www.orpha.net#179494 "Obesity due to leptin receptor gene deficiency"
* https://www.orpha.net#180114 "Unicervical bicornuate uterus"
* https://www.orpha.net#180126 "Complete septate uterus"
* https://www.orpha.net#180139 "Uterine hypoplasia"
* https://www.orpha.net#180145 "Uterine cervical aplasia and agenesis"
* https://www.orpha.net#180229 "Polyembryoma"
* https://www.orpha.net#180261 "Phyllodes tumor of the breast"
* https://www.orpha.net#199244 "Nelson syndrome"
* https://www.orpha.net#199247 "Corticosteroid-binding globulin deficiency"
* https://www.orpha.net#199279 "Familial angiolipomatosis"
* https://www.orpha.net#199285 "Hereditary hypercarotenemia and vitamin A deficiency"
* https://www.orpha.net#199354 "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"
* https://www.orpha.net#199642 "Isolated congenital microcephaly"
* https://www.orpha.net#206546 "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"
* https://www.orpha.net#206549 "Anoctamin-5-related limb-girdle muscular dystrophy R12"
* https://www.orpha.net#208441 "Bilateral parasagittal parieto-occipital polymicrogyria"
* https://www.orpha.net#209370 "Severe neonatal-onset encephalopathy with microcephaly"
* https://www.orpha.net#209951 "Autosomal spastic paraplegia type 18"
* https://www.orpha.net#210272 "Mal de débarquement"
* https://www.orpha.net#213512 "Malignant mixed Müllerian tumor of the ovary"
* https://www.orpha.net#213531 "Metaplastic carcinoma of the breast"
* https://www.orpha.net#213600 "Adenosarcoma of the corpus uteri"
* https://www.orpha.net#213772 "Adenocarcinoma of the cervix uteri"
* https://www.orpha.net#216718 "Isolated congenitally uncorrected transposition of the great arteries"
* https://www.orpha.net#217055 "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"
* https://www.orpha.net#217080 "Pulmonary fungal infections in patients deemed at risk"
* https://www.orpha.net#217340 "17q21.31 microduplication syndrome"
* https://www.orpha.net#217377 "Microduplication Xp11.22p11.23 syndrome"
* https://www.orpha.net#220402 "Limited cutaneous systemic sclerosis"
* https://www.orpha.net#220460 "Attenuated familial adenomatous polyposis"
* https://www.orpha.net#221061 "Familial cerebral cavernous malformation"
* https://www.orpha.net#221074 "Marchiafava-Bignami disease"
* https://www.orpha.net#227535 "Hereditary breast cancer"
* https://www.orpha.net#228012 "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"
* https://www.orpha.net#228174 "Autosomal dominant Charcot-Marie-Tooth disease type 2N"
* https://www.orpha.net#228240 "Elastoderma"
* https://www.orpha.net#228349 "CLN2 disease"
* https://www.orpha.net#228354 "CLN8 disease"
* https://www.orpha.net#228379 "Virus-associated trichodysplasia spinulosa"
* https://www.orpha.net#231120 "Beckwith-Wiedemann syndrome due to CDKN1C mutation"
* https://www.orpha.net#231127 "Beckwith-Wiedemann syndrome due to 11p15 microdeletion"
* https://www.orpha.net#231140 "Silver-Russell syndrome due to an imprinting defect of 11p15"
* https://www.orpha.net#231169 "Usher syndrome type 1"
* https://www.orpha.net#231450 "Acute pure sensory neuropathy"
* https://www.orpha.net#231625 "Adrenocortical carcinoma with pure aldosterone hypersecretion"
* https://www.orpha.net#238305 "Infundibulo-neurohypophysitis"
* https://www.orpha.net#238557 "Chuvash erythrocytosis"
* https://www.orpha.net#238606 "Primary orthostatic tremor"
* https://www.orpha.net#238637 "Megacystis-megaureter syndrome"
* https://www.orpha.net#244305 "Dominant hypophosphatemia with nephrolithiasis or osteoporosis"
* https://www.orpha.net#247522 "Primary ciliary dyskinesia-retinitis pigmentosa syndrome"
* https://www.orpha.net#247709 "Multiple endocrine neoplasia type 2B"
* https://www.orpha.net#248111 "Juvenile Huntington disease"
* https://www.orpha.net#251004 "Paternal uniparental disomy of chromosome 1"
* https://www.orpha.net#251046 "6p22 microdeletion syndrome"
* https://www.orpha.net#251076 "8p23.1 duplication syndrome"
* https://www.orpha.net#251274 "Familial hyperaldosteronism type III"
* https://www.orpha.net#251279 "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"
* https://www.orpha.net#251307 "Idiopathic recurrent pericarditis"
* https://www.orpha.net#251375 "Sickle cell-hemoglobin E disease syndrome"
* https://www.orpha.net#251515 "Distal arthrogryposis type 10"
* https://www.orpha.net#251612 "Pilocytic astrocytoma"
* https://www.orpha.net#251883 "Medulloepithelioma of the central nervous system"
* https://www.orpha.net#251946 "Dysembryoplastic neuroepithelial tumor"
* https://www.orpha.net#251957 "Anaplastic ganglioglioma"
* https://www.orpha.net#252054 "Hemangioblastoma"
* https://www.orpha.net#254902 "Renal tubulopathy-encephalopathy-liver failure syndrome"
* https://www.orpha.net#261190 "15q14 microdeletion syndrome"
* https://www.orpha.net#261222 "Distal 16p11.2 microdeletion syndrome"
* https://www.orpha.net#261236 "16p13.11 microdeletion syndrome"
* https://www.orpha.net#261304 "Paternal 20q13.2q13.3 microdeletion syndrome"
* https://www.orpha.net#261344 "Trisomy 1q"
* https://www.orpha.net#261652 "Kleefstra syndrome due to a point mutation"
* https://www.orpha.net#263335 "Moderately-differentiated thymic neuroendocrine carcinoma"
* https://www.orpha.net#263347 "MRCS syndrome"
* https://www.orpha.net#263352 "Postcardiotomy right ventricular failure"
* https://www.orpha.net#263410 "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"
* https://www.orpha.net#263425 "Nevus of Ota"
* https://www.orpha.net#263435 "Congenital smooth muscle hamartoma"
* https://www.orpha.net#264450 "Trisomy 8p"
* https://www.orpha.net#268261 "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion"
* https://www.orpha.net#268810 "Isolated posterior meningocele"
* https://www.orpha.net#268823 "Occipital encephalocele"
* https://www.orpha.net#268868 "Isolated amyelia"
* https://www.orpha.net#269505 "Congenital communicating hydrocephalus"
* https://www.orpha.net#275517 "Autoimmune lymphoproliferative syndrome with recurrent viral infections"
* https://www.orpha.net#275864 "Behavioral variant of frontotemporal dementia"
* https://www.orpha.net#276432 "Ogden syndrome"
* https://www.orpha.net#276556 "Hyperinsulinism due to UCP2 deficiency"
* https://www.orpha.net#276621 "Sporadic pheochromocytoma/secreting paraganglioma"
* https://www.orpha.net#279943 "Hereditary neutrophilia"
* https://www.orpha.net#279947 "Postorgasmic illness syndrome"
* https://www.orpha.net#280062 "Calciphylaxis"
* https://www.orpha.net#280065 "Calciphylaxis cutis"
* https://www.orpha.net#280142 "Severe combined immunodeficiency due to LCK deficiency"
* https://www.orpha.net#280270 "Pelizaeus-Merzbacher-like disease"
* https://www.orpha.net#280293 "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"
* https://www.orpha.net#281090 "Syndromic recessive X-linked ichthyosis"
* https://www.orpha.net#281139 "Annular epidermolytic ichthyosis"
* https://www.orpha.net#282166 "Inherited Creutzfeldt-Jakob disease"
* https://www.orpha.net#284414 "Glycerol kinase deficiency, adult form"
* https://www.orpha.net#289157 "Hypocalcemic vitamin D-dependent rickets"
* https://www.orpha.net#289390 "Primary Sjögren syndrome"
* https://www.orpha.net#289522 "Microtriplication 11q24.1"
* https://www.orpha.net#289553 "Dysmorphism-conductive hearing loss-heart defect syndrome"
* https://www.orpha.net#289601 "Hereditary arterial and articular multiple calcification syndrome"
* https://www.orpha.net#289682 "Lymphoepithelial-like carcinoma"
* https://www.orpha.net#289685 "Myopericytoma"
* https://www.orpha.net#293967 "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome"
* https://www.orpha.net#293978 "Deficiency in anterior pituitary function-variable immunodeficiency syndrome"
* https://www.orpha.net#294979 "Congenital absence of both forearm and hand"
* https://www.orpha.net#295012 "Syndactyly type 6"
* https://www.orpha.net#295030 "True congenital shoulder dislocation"
* https://www.orpha.net#295049 "Upper limb hypertrophy"
* https://www.orpha.net#295193 "Zygodactyly type 4"
* https://www.orpha.net#295201 "Congenital vertical talus, unilateral"
* https://www.orpha.net#295213 "Humero-ulnar synostosis, unilateral"
* https://www.orpha.net#300179 "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"
* https://www.orpha.net#300333 "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome"
* https://www.orpha.net#300493 "Sagliker syndrome"
* https://www.orpha.net#300512 "Onychomatricoma"
* https://www.orpha.net#300530 "Pseudohypoaldosteronism type 2E"
* https://www.orpha.net#300869 "Splenic diffuse red pulp small B-cell lymphoma"
* https://www.orpha.net#306617 "X-linked complicated spastic paraplegia type 1"
* https://www.orpha.net#306658 "Familial normophosphatemic tumoral calcinosis"
* https://www.orpha.net#306731 "Sydenham chorea"
* https://www.orpha.net#308400 "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"
* https://www.orpha.net#308552 "Glycogen storage disease due to acid maltase deficiency, infantile onset"
* https://www.orpha.net#309015 "Familial lipoprotein lipase deficiency"
* https://www.orpha.net#309162 "Sandhoff disease, juvenile form"
* https://www.orpha.net#309169 "Sandhoff disease, adult form"
* https://www.orpha.net#309185 "Tay-Sachs disease, B variant, juvenile form"
* https://www.orpha.net#309256 "Metachromatic leukodystrophy, late infantile form"
* https://www.orpha.net#309334 "Salla disease"
* https://www.orpha.net#313781 "20p13 microdeletion syndrome"
* https://www.orpha.net#314419 "Ameloblastoma"
* https://www.orpha.net#314555 "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome"
* https://www.orpha.net#314572 "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"
* https://www.orpha.net#314629 "CLN11 disease"
* https://www.orpha.net#314679 "Cerebrofacioarticular syndrome"
* https://www.orpha.net#314802 "Short stature due to partial GHR deficiency"
* https://www.orpha.net#317425 "Severe combined immunodeficiency due to DNA-PKcs deficiency"
* https://www.orpha.net#319182 "Wiedemann-Steiner syndrome"
* https://www.orpha.net#319239 "Brazilian hemorrhagic fever"
* https://www.orpha.net#319319 "Renal medullary carcinoma"
* https://www.orpha.net#319340 "Carney complex-trismus-pseudocamptodactyly syndrome"
* https://www.orpha.net#319462 "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"
* https://www.orpha.net#319524 "Combined oxidative phosphorylation defect type 15"
* https://www.orpha.net#319558 "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"
* https://www.orpha.net#319605 "X-linked mendelian susceptibility to mycobacterial diseases"
* https://www.orpha.net#319667 "Primary lymphoma of the conjunctiva"
* https://www.orpha.net#320380 "Autosomal recessive spastic paraplegia type 54"
* https://www.orpha.net#324290 "Early-onset Lafora body disease"
* https://www.orpha.net#324353 "Congenital achiasma"
* https://www.orpha.net#324588 "Familial dyskinesia and facial myokymia"
* https://www.orpha.net#324648 "Invasive non-typhoidal salmonellosis"
* https://www.orpha.net#324977 "Proteasome-associated autoinflammatory syndrome"
* https://www.orpha.net#325124 "Testicular agenesis"
* https://www.orpha.net#329173 "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"
* https://www.orpha.net#329235 "X-linked central congenital hypothyroidism with late-onset testicular enlargement"
* https://www.orpha.net#329308 "Fatty acid hydroxylase-associated neurodegeneration"
* https://www.orpha.net#329332 "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome"
* https://www.orpha.net#329469 "Acute megakaryoblastic leukemia without Down syndrome"
* https://www.orpha.net#329874 "Idiopathic giant cell myocarditis"
* https://www.orpha.net#329883 "Non-hypoproteinemic hypertrophic gastropathy"
* https://www.orpha.net#329903 "Immunoglobulin-mediated membranoproliferative glomerulonephritis"
* https://www.orpha.net#330015 "Lead poisoning"
* https://www.orpha.net#330032 "Hemoglobin Lepore-beta-thalassemia syndrome"
* https://www.orpha.net#331187 "Immunodeficiency due to MASP-2 deficiency"
* https://www.orpha.net#352328 "MEGDEL syndrome"
* https://www.orpha.net#352540 "Oncogenic osteomalacia"
* https://www.orpha.net#352641 "Autosomal recessive cerebellar ataxia with late-onset spasticity"
* https://www.orpha.net#352657 "Hereditary benign intraepithelial dyskeratosis"
* https://www.orpha.net#352670 "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"
* https://www.orpha.net#352718 "Progressive retinal dystrophy due to retinol transport defect"
* https://www.orpha.net#352745 "Oculocutaneous albinism type 7"
* https://www.orpha.net#353356 "Vasoproliferative tumor of the retina"
* https://www.orpha.net#357064 "Autosomal recessive cutis laxa type 2B"
* https://www.orpha.net#363396 "High myopia-sensorineural deafness syndrome"
* https://www.orpha.net#363478 "Paratesticular adenocarcinoma"
* https://www.orpha.net#363483 "Testicular teratoma"
* https://www.orpha.net#363540 "Leukoencephalopathy with mild cerebellar ataxia and white matter edema"
* https://www.orpha.net#363549 "Acute encephalopathy with biphasic seizures and late reduced diffusion"
* https://www.orpha.net#363649 "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome"
* https://www.orpha.net#363680 "2p13.2 microdeletion syndrome"
* https://www.orpha.net#363686 "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"
* https://www.orpha.net#363727 "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"
* https://www.orpha.net#363972 "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"
* https://www.orpha.net#364028 "X-linked intellectual disability due to GRIA3 mutations"
* https://www.orpha.net#364039 "Hydroa vacciniforme-like lymphoma"
* https://www.orpha.net#369942 "CADDS"
* https://www.orpha.net#370015 "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"
* https://www.orpha.net#370091 "Oculocutaneous albinism type 5"
* https://www.orpha.net#370097 "Oculocutaneous albinism type 6"
* https://www.orpha.net#370396 "Small cell carcinoma of the ovary"
* https://www.orpha.net#370924 "STT3B-CDG"
* https://www.orpha.net#391307 "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"
* https://www.orpha.net#391428 "HSD10 disease, infantile type"
* https://www.orpha.net#397590 "Silver-Russell syndrome due to a point mutation"
* https://www.orpha.net#397596 "Activated PI3K-delta syndrome"
* https://www.orpha.net#397612 "Macrocephaly-developmental delay syndrome"
* https://www.orpha.net#397750 "Periodic paralysis with later-onset distal motor neuropathy"
* https://www.orpha.net#398961 "Mucinous adenocarcinoma of ovary"
* https://www.orpha.net#399058 "Alpha-B crystallin-related late-onset myopathy"
* https://www.orpha.net#401777 "Optic atrophy-intellectual disability syndrome"
* https://www.orpha.net#401795 "Autosomal recessive spastic paraplegia type 59"
* https://www.orpha.net#401935 "14q24.1q24.3 microdeletion syndrome"
* https://www.orpha.net#401959 "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"
* https://www.orpha.net#402041 "Autosomal recessive distal renal tubular acidosis"
* https://www.orpha.net#404451 "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"
* https://www.orpha.net#404499 "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency"
* https://www.orpha.net#411493 "Pontocerebellar hypoplasia type 10"
* https://www.orpha.net#412035 "13q12.3 microdeletion syndrome"
* https://www.orpha.net#412066 "PRKAR1B-related neurodegenerative dementia with intermediate filaments"
* https://www.orpha.net#420699 "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"
* https://www.orpha.net#424016 "Adenocarcinoma of the anal canal"
* https://www.orpha.net#424039 "Squamous cell carcinoma of pancreas"
* https://www.orpha.net#424975 "Squamous cell carcinoma of liver and intrahepatic biliary tract"
* https://www.orpha.net#424982 "Biliary cystadenocarcinoma"
* https://www.orpha.net#431140 "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"
* https://www.orpha.net#431272 "X-linked scapuloperoneal muscular dystrophy"
* https://www.orpha.net#431361 "Progressive encephalopathy with leukodystrophy due to DECR deficiency"
* https://www.orpha.net#435953 "Progeroid features-hepatocellular carcinoma predisposition syndrome"
* https://www.orpha.net#435988 "Chronic atrial and intestinal dysrhythmia syndrome"
* https://www.orpha.net#436182 "Microcephalic primordial dwarfism-insulin resistance syndrome"
* https://www.orpha.net#436252 "Combined immunodeficiency-enteropathy spectrum"
* https://www.orpha.net#438114 "RARS-related autosomal recessive hypomyelinating leukodystrophy"
* https://www.orpha.net#438178 "Fatty acyl-CoA reductase 1 deficiency"
* https://www.orpha.net#439737 "Primary polyarteritis nodosa"
* https://www.orpha.net#439746 "Secondary polyarteritis nodosa"
* https://www.orpha.net#439854 "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease"
* https://www.orpha.net#440368 "Necrotizing soft tissue infection"
* https://www.orpha.net#440402 "Interstitial lung disease due to ABCA3 deficiency"
* https://www.orpha.net#440706 "Ribose-5-P isomerase deficiency"
* https://www.orpha.net#443167 "NUT midline carcinoma"
* https://www.orpha.net#443173 "Postpartum psychosis"
* https://www.orpha.net#443180 "Spontaneous intracranial hypotension"
* https://www.orpha.net#443988 "Ventriculomegaly-cystic kidney disease"
* https://www.orpha.net#447764 "IgG4-related sclerosing cholangitis"
* https://www.orpha.net#447777 "Keratocystic odontogenic tumor"
* https://www.orpha.net#447795 "Lipoyl transferase 2 deficiency"
* https://www.orpha.net#447997 "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"
* https://www.orpha.net#448237 "Zika virus disease"
* https://www.orpha.net#449395 "IgG4-related kidney disease"
* https://www.orpha.net#449563 "IgG4-related ophthalmic disease"
* https://www.orpha.net#451602 "Primary cutaneous plasmacytosis"
* https://www.orpha.net#453521 "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency"
* https://www.orpha.net#15 "Achondroplasia"
* https://www.orpha.net#16 "Blue cone monochromatism"
* https://www.orpha.net#23 "Argininosuccinic aciduria"
* https://www.orpha.net#27 "Vitamin B12-unresponsive methylmalonic acidemia"
* https://www.orpha.net#33 "Isovaleric acidemia"
* https://www.orpha.net#48 "Congenital bilateral absence of vas deferens"
* https://www.orpha.net#58 "Alexander disease"
* https://www.orpha.net#65 "Leber congenital amaurosis"
* https://www.orpha.net#73 "Gorham-Stout disease"
* https://www.orpha.net#78 "Ankylostomiasis"
* https://www.orpha.net#97 "Familial paroxysmal ataxia"
* https://www.orpha.net#102 "Multiple system atrophy"
* https://www.orpha.net#112 "Bartter syndrome"
* https://www.orpha.net#118 "Beta-mannosidosis"
* https://www.orpha.net#129 "Pseudopelade of Brocq"
* https://www.orpha.net#131 "Budd-Chiari syndrome"
* https://www.orpha.net#132 "Butyrylcholinesterase deficiency"
* https://www.orpha.net#141 "Canavan disease"
* https://www.orpha.net#457205 "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome"
* https://www.orpha.net#457279 "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome"
* https://www.orpha.net#464311 "Intellectual disability syndrome due to a DYRK1A point mutation"
* https://www.orpha.net#464343 "Catastrophic antiphospholipid syndrome"
* https://www.orpha.net#465508 "Symptomatic form of HFE-related hemochromatosis"
* https://www.orpha.net#466703 "TMEM199-CDG"
* https://www.orpha.net#466718 "Martinique crinkled retinal pigment epitheliopathy"
* https://www.orpha.net#466722 "Autosomal recessive spastic paraplegia type 77"
* https://www.orpha.net#466729 "Familial patent arterial duct"
* https://www.orpha.net#466768 "Autosomal dominant Charcot-Marie-Tooth disease type 2Z"
* https://www.orpha.net#466794 "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"
* https://www.orpha.net#466921 "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"
* https://www.orpha.net#466950 "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"
* https://www.orpha.net#467166 "Tubulinopathy-associated dysgyria"
* https://www.orpha.net#468620 "Intellectual disability-epilepsy-extrapyramidal syndrome"
* https://www.orpha.net#468672 "Colobomatous macrophthalmia-microcornea syndrome"
* https://www.orpha.net#477814 "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"
* https://www.orpha.net#477817 "PMP22-RAI1 contiguous gene duplication syndrome"
* https://www.orpha.net#480506 "Primary intrahepatic lithiasis"
* https://www.orpha.net#480520 "Caroli syndrome"
* https://www.orpha.net#482606 "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"
* https://www.orpha.net#485421 "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect"
* https://www.orpha.net#488191 "Female infertility due to oocyte meiotic arrest"
* https://www.orpha.net#488333 "Autosomal dominant Charcot-Marie-Tooth disease type 2W"
* https://www.orpha.net#494424 "Extracranial carotid artery aneurysm"
* https://www.orpha.net#494428 "Idiopathic pleuroparenchymal fibroelastosis"
* https://www.orpha.net#494433 "MIRAGE syndrome"
* https://www.orpha.net#494547 "Squamous cell carcinoma of the hypopharynx"
* https://www.orpha.net#498494 "Mirror-image polydactyly"
* https://www.orpha.net#498693 "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome"
* https://www.orpha.net#499182 "Pilomatrix carcinoma"
* https://www.orpha.net#500055 "Hao-Fountain syndrome due to 16p13.2 microdeletion"
* https://www.orpha.net#500180 "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"
* https://www.orpha.net#502363 "Squamous cell carcinoma of the oral cavity"
* https://www.orpha.net#502499 "Erythema multiforme major"
* https://www.orpha.net#504476 "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"
* https://www.orpha.net#508512 "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"
* https://www.orpha.net#521414 "Autosomal dominant Charcot-Marie-Tooth disease type 2DD"
* https://www.orpha.net#521445 "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"
* https://www.orpha.net#529852 "Combined hepatocellular carcinoma and cholangiocarcinoma"
* https://www.orpha.net#529864 "Secondary erythromelalgia"
* https://www.orpha.net#535458 "Familial GPIHBP1 deficiency"
* https://www.orpha.net#538101 "Congenital axonal neuropathy with encephalopathy"
* https://www.orpha.net#538958 "Combined immunodeficiency due to CD70 deficiency"
* https://www.orpha.net#542306 "GNB5-related intellectual disability-cardiac arrhythmia syndrome"
* https://www.orpha.net#542568 "Quadricuspid aortic valve"
* https://www.orpha.net#555434 "Fibrohistiocytic inflammatory pseudotumor of the liver"
* https://www.orpha.net#556985 "Early-onset calcifying leukoencephalopathy-skeletal dysplasia"
* https://www.orpha.net#563576 "Autoimmune hepatitis type 1"
* https://www.orpha.net#563581 "Autoimmune hepatitis type 2"
* https://www.orpha.net#563951 "Isolated congenital aglossia"
* https://www.orpha.net#563954 "Isolated congenital hypoglossia"
* https://www.orpha.net#147 "Carbamoyl-phosphate synthetase 1 deficiency"
* https://www.orpha.net#184 "Cherubism"
* https://www.orpha.net#190 "Coats disease"
* https://www.orpha.net#200 "Isolated corpus callosum agenesis"
* https://www.orpha.net#213 "Cystinosis"
* https://www.orpha.net#268 "Dysferlin-related limb-girdle muscular dystrophy R2"
* https://www.orpha.net#273 "Steinert myotonic dystrophy"
* https://www.orpha.net#275 "Severe combined immunodeficiency due to DCLRE1C deficiency"
* https://www.orpha.net#281 "Monosomy 5p"
* https://www.orpha.net#285 "Hypermobile Ehlers-Danlos syndrome"
* https://www.orpha.net#289 "Ellis Van Creveld syndrome"
* https://www.orpha.net#290 "Congenital rubella syndrome"
* https://www.orpha.net#294 "Fetal cytomegalovirus syndrome"
* https://www.orpha.net#300 "Bifunctional enzyme deficiency"
* https://www.orpha.net#307 "Juvenile myoclonic epilepsy"
* https://www.orpha.net#315 "Erythrokeratoderma ''en cocardes''"
* https://www.orpha.net#326 "Congenital factor V deficiency"
* https://www.orpha.net#327 "Congenital factor VII deficiency"
* https://www.orpha.net#328 "Congenital factor X deficiency"
* https://www.orpha.net#353 "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"
* https://www.orpha.net#384 "Huriez syndrome"
* https://www.orpha.net#389 "Langerhans cell histiocytosis"
* https://www.orpha.net#394 "Classic homocystinuria"
* https://www.orpha.net#399 "Huntington disease"
* https://www.orpha.net#412 "Dysbetalipoproteinemia"
* https://www.orpha.net#419 "Hyperprolinemia type 1"
* https://www.orpha.net#455 "Superficial epidermolytic ichthyosis"
* https://www.orpha.net#482 "Kimura disease"
* https://www.orpha.net#487 "Krabbe disease"
* https://www.orpha.net#492 "Proliferating trichilemmal cyst"
* https://www.orpha.net#500 "Noonan syndrome with multiple lentigines"
* https://www.orpha.net#505 "Graham Little-Piccardi-Lassueur syndrome"
* https://www.orpha.net#511 "Maple syrup urine disease"
* https://www.orpha.net#517 "Acute myelomonocytic leukemia"
* https://www.orpha.net#533 "Listeriosis"
* https://www.orpha.net#550 "MELAS"
* https://www.orpha.net#559 "Marinesco-Sjögren syndrome"
* https://www.orpha.net#570 "Moebius syndrome"
* https://www.orpha.net#574 "21q deletion syndrome"
* https://www.orpha.net#584 "Mucopolysaccharidosis type 7"
* https://www.orpha.net#606 "Proximal myotonic myopathy"
* https://www.orpha.net#614 "Thomsen and Becker disease"
* https://www.orpha.net#615 "Familial atrial myxoma"
* https://www.orpha.net#624 "Familial multiple nevi flammei"
* https://www.orpha.net#634 "Netherton syndrome"
* https://www.orpha.net#635 "Neuroblastoma"
* https://www.orpha.net#636 "Neurofibromatosis type 1"
* https://www.orpha.net#638 "Neurofibromatosis-Noonan syndrome"
* https://www.orpha.net#646 "Niemann-Pick disease type C"
* https://www.orpha.net#712 "Hemolytic anemia due to glucophosphate isomerase deficiency"
* https://www.orpha.net#713 "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"
* https://www.orpha.net#718 "Isolated Pierre Robin syndrome"
* https://www.orpha.net#720 "Pili bifurcati"
* https://www.orpha.net#772 "Infantile Refsum disease"
* https://www.orpha.net#564178 "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome"
* https://www.orpha.net#565612 "Primary triglyceride deposit cardiomyovasculopathy"
* https://www.orpha.net#566175 "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome"
* https://www.orpha.net#566231 "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha"
* https://www.orpha.net#567548 "Idiopathic steroid-resistant nephrotic syndrome"
* https://www.orpha.net#569248 "Microcystic stromal tumor"
* https://www.orpha.net#569821 "Congenital primary lymphedema of Gordon"
* https://www.orpha.net#570422 "Galactose mutarotase deficiency"
* https://www.orpha.net#572354 "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"
* https://www.orpha.net#576235 "Partial atrioventricular septal defect without ventricular hypoplasia"
* https://www.orpha.net#576242 "Intermediate atrioventricular septal defect"
* https://www.orpha.net#589435 "Spondylometaphyseal dysplasia-corneal dystrophy syndrome"
* https://www.orpha.net#589534 "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"
* https://www.orpha.net#589830 "Adult-onset Steinert myotonic dystrophy"
* https://www.orpha.net#589905 "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"
* https://www.orpha.net#590539 "Isolated melanotic schwannoma"
* https://www.orpha.net#592850 "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies"
* https://www.orpha.net#592873 "Acute transverse myelitis with anti-MOG antibodies"
* https://www.orpha.net#597746 "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"
* https://www.orpha.net#598363 "Multisystem inflammatory syndrome in children and adults"
* https://www.orpha.net#599513 "Acquired factor XIII deficiency"
* https://www.orpha.net#599579 "Factor V Amsterdam bleeding disorder"
* https://www.orpha.net#601023 "Non-syndromic anorectal malformation with rectal stenosis"
* https://www.orpha.net#603448 "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"
* https://www.orpha.net#603689 "KLHL7-related Bohring-Opitz-like syndrome"
* https://www.orpha.net#617294 "Twin anemia-polycythemia sequence"
* https://www.orpha.net#617297 "Twin-reversed arterial perfusion sequence"
* https://www.orpha.net#620146 "Non-syndromic unisquamosal craniosynostosis"
* https://www.orpha.net#620158 "Non-syndromic non-specific multisutural craniosynostosis"
* https://www.orpha.net#620371 "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation"
* https://www.orpha.net#622099 "Superior mesenteric artery syndrome"
* https://www.orpha.net#631073 "Autosomal recessive spastic paraplegia type 82"
* https://www.orpha.net#631251 "Cancer of unknown primary site"
* https://www.orpha.net#633211 "Preaxial digit brachydactyly-webbed fingers"
* https://www.orpha.net#634511 "Mosaic Legius syndrome"
* https://www.orpha.net#637061 "Isolated optic nerve hypoplasia"
* https://www.orpha.net#642675 "CHD8 overgrowth syndrome"
* https://www.orpha.net#642691 "Fragile X-associated primary ovarian insufficiency"
* https://www.orpha.net#642954 "Autosomal recessive ataxia due to PEX16 deficiency"
* https://www.orpha.net#643503 "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome"
* https://www.orpha.net#645340 "Non-terminal myelocystocele"
* https://www.orpha.net#646136 "Dysplastic cortical hyperostosis, Al-Gazali type"
* https://www.orpha.net#647681 "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome"
* https://www.orpha.net#647772 "Isolated primary pigmented nodular adrenocortical disease"
* https://www.orpha.net#648581 "Digenic hemochromatosis"
* https://www.orpha.net#649010 "Non-syndromic congenital bronchial atresia"
* https://www.orpha.net#786 "Generalized glucocorticoid resistance syndrome"
* https://www.orpha.net#790 "Retinoblastoma"
* https://www.orpha.net#818 "Smith-Lemli-Opitz syndrome"
* https://www.orpha.net#820 "Sneddon syndrome"
* https://www.orpha.net#822 "Hereditary spherocytosis"
* https://www.orpha.net#842 "Testicular seminomatous germ cell tumor"
* https://www.orpha.net#845 "Tay-Sachs disease"
* https://www.orpha.net#848 "Beta-thalassemia"
* https://www.orpha.net#853 "Fetal and neonatal alloimmune thrombocytopenia"
* https://www.orpha.net#859 "Transcobalamin deficiency"
* https://www.orpha.net#864 "Trichofolliculoma"
* https://www.orpha.net#879 "Tungiasis"
* https://www.orpha.net#901 "Wells syndrome"
* https://www.orpha.net#909 "Cerebrotendinous xanthomatosis"
* https://www.orpha.net#915 "Aarskog-Scott syndrome"
* https://www.orpha.net#972 "Hereditary continuous muscle fiber activity"
* https://www.orpha.net#973 "Congenital absence/hypoplasia of fingers excluding thumb, unilateral"
* https://www.orpha.net#989 "Hypoglossia-hypodactyly syndrome"
* https://www.orpha.net#990 "Agnathia-holoprosencephaly-situs inversus syndrome"
* https://www.orpha.net#1014 "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome"
* https://www.orpha.net#1071 "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"
* https://www.orpha.net#1106 "Microphthalmia with limb anomalies"
* https://www.orpha.net#1117 "Aplasia cutis-myopia syndrome"
* https://www.orpha.net#1130 "Arachnodactyly-intellectual disability-dysmorphism syndrome"
* https://www.orpha.net#1135 "Arrhinia-choanal atresia-microphthalmia syndrome"
* https://www.orpha.net#1146 "Distal arthrogryposis type 1"
* https://www.orpha.net#1147 "Sheldon-Hall syndrome"
* https://www.orpha.net#1163 "Aspergillosis"
* https://www.orpha.net#1166 "Congenital unilateral hypoplasia of depressor anguli oris"
* https://www.orpha.net#1173 "Cerebellar ataxia-hypogonadism syndrome"
* https://www.orpha.net#1188 "Ataxia-deafness-intellectual disability syndrome"
* https://www.orpha.net#1193 "Atkin-Flaitz syndrome"
* https://www.orpha.net#1207 "Pulmonary atresia with ventricular septal defect"
* https://www.orpha.net#1216 "Autosomal dominant congenital benign spinal muscular atrophy"
* https://www.orpha.net#1240 "Metaphyseal acroscyphodysplasia"
* https://www.orpha.net#1253 "Ascher syndrome"
* https://www.orpha.net#1272 "Aymé-Gripp syndrome"
* https://www.orpha.net#1297 "Branchio-oculo-facial syndrome"
* https://www.orpha.net#1308 "C syndrome"
* https://www.orpha.net#1320 "Idiopathic camptocormia"
* https://www.orpha.net#1332 "Medullary thyroid carcinoma"
* https://www.orpha.net#1358 "Carey-Fineman-Ziter syndrome"
* https://www.orpha.net#1368 "Cataract-ataxia-deafness syndrome"
* https://www.orpha.net#1375 "Cataract-hypertrichosis-intellectual disability syndrome"
* https://www.orpha.net#1414 "Cholestasis-lymphedema syndrome"
* https://www.orpha.net#1425 "Desbuquois syndrome"
* https://www.orpha.net#1433 "Choroidal atrophy-alopecia syndrome"
* https://www.orpha.net#1436 "X-linked skeletal dysplasia-intellectual disability syndrome"
* https://www.orpha.net#1439 "Ring chromosome 12 syndrome"
* https://www.orpha.net#1458 "CODAS syndrome"
* https://www.orpha.net#1471 "Coloboma of macula-brachydactyly type B syndrome"
* https://www.orpha.net#1496 "Corpus callosum agenesis-neuronopathy syndrome"
* https://www.orpha.net#1506 "Thin ribs-tubular bones-dysmorphism syndrome"
* https://www.orpha.net#1517 "Cantú syndrome"
* https://www.orpha.net#1551 "Familial benign copper deficiency"
* https://www.orpha.net#1562 "Dacryocystitis-osteopoikilosis syndrome"
* https://www.orpha.net#1570 "Symbrachydactyly of hands and feet"
* https://www.orpha.net#1581 "Non-distal deletion 10q"
* https://www.orpha.net#1587 "Monosomy 13q14"
* https://www.orpha.net#1606 "1p36 deletion syndrome"
* https://www.orpha.net#1657 "Dermatoosteolysis, Kirghizian type"
* https://www.orpha.net#1679 "Diphtheria"
* https://www.orpha.net#1742 "Trisomy 5p"
* https://www.orpha.net#1759 "Thoraco-abdominal enteric duplication"
* https://www.orpha.net#1780 "Thakker-Donnai syndrome"
* https://www.orpha.net#1782 "Dysosteosclerosis"
* https://www.orpha.net#1790 "Hypomandibular faciocranial dysostosis"
* https://www.orpha.net#1809 "Hidrotic ectodermal dysplasia, Halal type"
* https://www.orpha.net#1825 "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome"
* https://www.orpha.net#1827 "Acromelic frontonasal dysplasia"
* https://www.orpha.net#1830 "Schimke immuno-osseous dysplasia"
* https://www.orpha.net#1865 "Dyssegmental dysplasia, Silverman-Handmaker type"
* https://www.orpha.net#1872 "Cone rod dystrophy"
* https://www.orpha.net#1878 "TRIM32-related limb-girdle muscular dystrophy R8"
* https://www.orpha.net#1884 "Ectopia lentis-chorioretinal dystrophy-myopia syndrome"
* https://www.orpha.net#1892 "Ectrodactyly-polydactyly syndrome"
* https://www.orpha.net#1899 "Arthrochalasia Ehlers-Danlos syndrome"
* https://www.orpha.net#1915 "Fetal alcohol syndrome"
* https://www.orpha.net#1929 "Rasmussen subacute encephalitis"
* https://www.orpha.net#1949 "Benign familial neonatal epilepsy"
* https://www.orpha.net#1954 "Congenital lethal erythroderma"
* https://www.orpha.net#1957 "Esthesioneuroblastoma"
* https://www.orpha.net#1970 "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome"
* https://www.orpha.net#1973 "Faciocardiorenal syndrome"
* https://www.orpha.net#1980 "Bilateral striopallidodentate calcinosis"
* https://www.orpha.net#1987 "Femoral agenesis/hypoplasia"
* https://www.orpha.net#1995 "Cleft lip-retinopathy syndrome"
* https://www.orpha.net#2028 "Juvenile hyaline fibromatosis"
* https://www.orpha.net#2032 "Idiopathic pulmonary fibrosis"
* https://www.orpha.net#2041 "Coronary arterial fistula"
* https://www.orpha.net#2050 "Cole-Carpenter syndrome"
* https://www.orpha.net#2074 "Gemignani syndrome"
* https://www.orpha.net#2111 "Cystic hamartoma of lung and kidney"
* https://www.orpha.net#2117 "Hartsfield syndrome"
* https://www.orpha.net#2123 "Diffuse neonatal hemangiomatosis"
* https://www.orpha.net#2132 "Hemoglobin C disease"
* https://www.orpha.net#2136 "Hennekam syndrome"
* https://www.orpha.net#2157 "Histidinemia"
* https://www.orpha.net#2172 "Microcephaly-glomerulonephritis-marfanoid habitus syndrome"
* https://www.orpha.net#2181 "Hydrocephaly-tall stature-joint laxity syndrome"
* https://www.orpha.net#2198 "Palmoplantar keratoderma-esophageal carcinoma syndrome"
* https://www.orpha.net#2228 "Hypodontia-dysplasia of nails syndrome"
* https://www.orpha.net#2234 "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"
* https://www.orpha.net#2235 "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome"
* https://www.orpha.net#2273 "Ichthyosis follicularis-alopecia-photophobia syndrome"
* https://www.orpha.net#2285 "Primary basilar invagination"
* https://www.orpha.net#2290 "Microvillus inclusion disease"
* https://www.orpha.net#2298 "Insulin-resistance syndrome type B"
* https://www.orpha.net#2306 "Isotretinoin-like syndrome"
* https://www.orpha.net#2307 "IVIC syndrome"
* https://www.orpha.net#2308 "Jacobsen syndrome"
* https://www.orpha.net#2312 "Transient familial neonatal hyperbilirubinemia"
* https://www.orpha.net#2321 "Jung syndrome"
* https://www.orpha.net#2331 "Kawasaki disease"
* https://www.orpha.net#2347 "Lethal Kniest-like dysplasia"
* https://www.orpha.net#2379 "Early-onset parkinsonism-intellectual disability syndrome"
* https://www.orpha.net#2414 "Congenital pulmonary lymphangiectasia"
* https://www.orpha.net#2438 "Hand-foot-genital syndrome"
* https://www.orpha.net#2466 "MASA syndrome"
* https://www.orpha.net#2485 "Melorheostosis"
* https://www.orpha.net#2492 "FATCO syndrome"
* https://www.orpha.net#2500 "Acrogeria"
* https://www.orpha.net#2502 "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome"
* https://www.orpha.net#2518 "Autosomal recessive chorioretinopathy-microcephaly syndrome"
* https://www.orpha.net#2523 "Microcephaly-brain defect-spasticity-hypernatremia syndrome"
* https://www.orpha.net#2524 "Pontocerebellar hypoplasia type 2"
* https://www.orpha.net#2536 "Microcornea-glaucoma-absent frontal sinuses syndrome"
* https://www.orpha.net#2551 "Microspherophakia-metaphyseal dysplasia syndrome"
* https://www.orpha.net#2552 "Microsporidiosis"
* https://www.orpha.net#2560 "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"
* https://www.orpha.net#2582 "Myalgia-eosinophilia syndrome associated with tryptophan"
* https://www.orpha.net#2612 "Linear nevus sebaceus syndrome"
* https://www.orpha.net#2619 "Brachydactylous dwarfism, Mseleni type"
* https://www.orpha.net#2633 "Mesomelic dysplasia, Nievergelt type"
* https://www.orpha.net#2639 "Fibular aplasia-complex brachydactyly syndrome"
* https://www.orpha.net#2643 "Microcephalic primordial dwarfism, Toriello type"
* https://www.orpha.net#2655 "Thanatophoric dysplasia"
* https://www.orpha.net#2674 "Cyprus facial-neuromusculoskeletal syndrome"
* https://www.orpha.net#2730 "Postaxial tetramelic oligodactyly"
* https://www.orpha.net#2737 "Onchocerciasis"
* https://www.orpha.net#2754 "Orofaciodigital syndrome type 6"
* https://www.orpha.net#2763 "Osteocraniostenosis"
* https://www.orpha.net#2773 "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome"
* https://www.orpha.net#2802 "X-linked sideroblastic anemia and spinocerebellar ataxia"
* https://www.orpha.net#2806 "Subacute sclerosing leukoencephalitis"
* https://www.orpha.net#2807 "Papilloma of choroid plexus"
* https://www.orpha.net#2831 "Rhizomelic dysplasia, Patterson-Lowry type"
* https://www.orpha.net#2833 "Stiff skin syndrome"
* https://www.orpha.net#2835 "Pectus excavatum-macrocephaly-dysplastic nails syndrome"
* https://www.orpha.net#2838 "Renal caliceal diverticuli-deafness syndrome"
* https://www.orpha.net#2842 "Penoscrotal transposition"
* https://www.orpha.net#2855 "Perrault syndrome"
* https://www.orpha.net#2866 "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome"
* https://www.orpha.net#2928 "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome"
* https://www.orpha.net#2953 "Musculocontractural Ehlers-Danlos syndrome"
* https://www.orpha.net#2968 "Leukocyte adhesion deficiency"
* https://www.orpha.net#2976 "Pseudoleprechaunism syndrome, Patterson type"
* https://www.orpha.net#3006 "Pyridoxine-dependent epilepsy"
* https://www.orpha.net#3008 "Pyruvate carboxylase deficiency"
* https://www.orpha.net#3018 "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome"
* https://www.orpha.net#3051 "Nicolaides-Baraitser syndrome"
* https://www.orpha.net#3052 "X-linked intellectual disability-seizures-psoriasis syndrome"
* https://www.orpha.net#3074 "Intellectual disability-short stature-hypertelorism syndrome"
* https://www.orpha.net#3077 "X-linked intellectual disability-psychosis-macroorchidism syndrome"
* https://www.orpha.net#3088 "Revesz syndrome"
* https://www.orpha.net#3096 "Reye syndrome"
* https://www.orpha.net#3103 "Roberts syndrome"
* https://www.orpha.net#3134 "SCARF syndrome"
* https://www.orpha.net#3148 "Malignant peripheral nerve sheath tumor"
* https://www.orpha.net#3151 "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"
* https://www.orpha.net#3164 "Omphalocele syndrome, Shprintzen-Goldberg type"
* https://www.orpha.net#3180 "Spondylocamptodactyly syndrome"
* https://www.orpha.net#3261 "Autoimmune lymphoproliferative syndrome"
* https://www.orpha.net#3265 "Humero-radial synostosis"
* https://www.orpha.net#3283 "His bundle tachycardia"
* https://www.orpha.net#3299 "Tetanus"
* https://www.orpha.net#3316 "Thomas syndrome"
* https://www.orpha.net#3328 "Absent tibia-polydactyly-arachnoid cyst syndrome"
* https://www.orpha.net#3355 "Trichoodontoonychial dysplasia"
* https://www.orpha.net#3374 "Unilateral ocular duplication"
* https://www.orpha.net#3402 "Transient tyrosinemia of the newborn"
* https://www.orpha.net#3429 "Verloove Vanhorick-Brubakk syndrome"
* https://www.orpha.net#3434 "MMEP syndrome"
* https://www.orpha.net#3439 "Von Voss-Cherstvoy syndrome"
* https://www.orpha.net#3454 "Intellectual disability-developmental delay-contractures syndrome"
* https://www.orpha.net#3456 "Wildervanck syndrome"
* https://www.orpha.net#3471 "Young syndrome"
* https://www.orpha.net#26348 "Acquired prothrombin deficiency"
* https://www.orpha.net#29073 "Multiple myeloma"
* https://www.orpha.net#34149 "Autosomal dominant tubulointerstitial kidney disease"
* https://www.orpha.net#34515 "FKRP-related limb-girdle muscular dystrophy R9"
* https://www.orpha.net#34516 "DNAJB6-related limb-girdle muscular dystrophy D1"
* https://www.orpha.net#35069 "Infantile neuroaxonal dystrophy"
* https://www.orpha.net#35701 "3-hydroxy-3-methylglutaryl-CoA synthase deficiency"
* https://www.orpha.net#36386 "Hereditary sensory and autonomic neuropathy type 1"
* https://www.orpha.net#39044 "Uveal melanoma"
* https://www.orpha.net#39812 "Graft versus host disease"
* https://www.orpha.net#44890 "Gastrointestinal stromal tumor"
* https://www.orpha.net#46135 "Primary central nervous system lymphoma"
* https://www.orpha.net#46348 "Paroxysmal extreme pain disorder"
* https://www.orpha.net#46532 "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"
* https://www.orpha.net#47612 "Felty syndrome"
* https://www.orpha.net#48377 "Subcorneal pustular dermatosis"
* https://www.orpha.net#50815 "Branchiogenic deafness syndrome"
* https://www.orpha.net#52368 "Mohr-Tranebjaerg syndrome"
* https://www.orpha.net#53697 "Gnathodiaphyseal dysplasia"
* https://www.orpha.net#55654 "Hypotrichosis simplex"
* https://www.orpha.net#55880 "Chondrosarcoma"
* https://www.orpha.net#59298 "Schilder disease"
* https://www.orpha.net#59303 "Neonatal ichthyosis-sclerosing cholangitis syndrome"
* https://www.orpha.net#59306 "McLeod neuroacanthocytosis syndrome"
* https://www.orpha.net#60040 "Megalencephaly-capillary malformation-polymicrogyria syndrome"
* https://www.orpha.net#63862 "Schisis association"
* https://www.orpha.net#63999 "IgG4-related mediastinitis"
* https://www.orpha.net#64734 "Iridocorneal endothelial syndrome"
* https://www.orpha.net#64744 "IgG4-related thyroid disease"
* https://www.orpha.net#64751 "Hereditary motor and sensory neuropathy type 5"
* https://www.orpha.net#65683 "Isolated focal cortical dysplasia"
* https://www.orpha.net#65798 "Goodman syndrome"
* https://www.orpha.net#66630 "Congenital pseudoarthrosis of the clavicle"
* https://www.orpha.net#67043 "Amoebic keratitis"
* https://www.orpha.net#67048 "3-methylglutaconic aciduria type 4"
* https://www.orpha.net#69665 "Intrahepatic cholestasis of pregnancy"
* https://www.orpha.net#69744 "Circumscribed palmoplantar hypokeratosis"
* https://www.orpha.net#70588 "Meconium aspiration syndrome"
* https://www.orpha.net#70591 "Chronic thromboembolic pulmonary hypertension"
* https://www.orpha.net#70595 "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
* https://www.orpha.net#71274 "Disseminated peritoneal leiomyomatosis"
* https://www.orpha.net#71276 "Silent sinus syndrome"
* https://www.orpha.net#73423 "Acute ackee fruit intoxication"
* https://www.orpha.net#75249 "Familial isolated restrictive cardiomyopathy"
* https://www.orpha.net#75374 "Bradyopsia"
* https://www.orpha.net#75378 "Oligocone trichromacy"
* https://www.orpha.net#75391 "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"
* https://www.orpha.net#75563 "X-linked sideroblastic anemia"
* https://www.orpha.net#75566 "Loeffler endocarditis"
* https://www.orpha.net#79101 "Hyperprolinemia type 2"
* https://www.orpha.net#79113 "Mandibulofacial dysostosis-microcephaly syndrome"
* https://www.orpha.net#79133 "Focal facial dermal dysplasia type I"
* https://www.orpha.net#79141 "Hereditary painful callosities"
* https://www.orpha.net#79147 "Familial reactive perforating collagenosis"
* https://www.orpha.net#79237 "Galactokinase deficiency"
* https://www.orpha.net#79256 "GM1 gangliosidosis type 2"
* https://www.orpha.net#79258 "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia"
* https://www.orpha.net#79332 "B4GALT1-CDG"
* https://www.orpha.net#79396 "Autosomal dominant generalized epidermolysis bullosa simplex, severe form"
* https://www.orpha.net#79414 "Woolly hair nevus"
* https://www.orpha.net#79444 "Pseudohypoparathyroidism type 1C"
* https://www.orpha.net#79473 "Porphyria variegata"
* https://www.orpha.net#79485 "Phakomatosis spilorosea"
* https://www.orpha.net#79492 "Pili gemini"
* https://www.orpha.net#83315 "Murine typhus"
* https://www.orpha.net#83419 "Proximal spinal muscular atrophy type 3"
* https://www.orpha.net#83420 "Proximal spinal muscular atrophy type 4"
* https://www.orpha.net#83594 "Eastern equine encephalitis"
* https://www.orpha.net#85164 "Camptodactyly-tall stature-scoliosis-hearing loss syndrome"
* https://www.orpha.net#85179 "Infantile osteopetrosis with neuroaxonal dysplasia"
* https://www.orpha.net#85283 "X-linked intellectual disability, Miles-Carpenter type"
* https://www.orpha.net#85286 "X-linked intellectual disability, Shashi type"
* https://www.orpha.net#85287 "X-linked intellectual disability, Siderius type"
* https://www.orpha.net#85321 "Deafness-intellectual disability syndrome, Martin-Probst type"
* https://www.orpha.net#85338 "X-linked intellectual disability-ataxia-apraxia syndrome"
* https://www.orpha.net#85443 "AL amyloidosis"
* https://www.orpha.net#85445 "AA amyloidosis"
* https://www.orpha.net#85448 "AGel amyloidosis"
* https://www.orpha.net#85458 "Hereditary cerebral hemorrhage with amyloidosis"
* https://www.orpha.net#86797 "Atypical lichen myxedematosus"
* https://www.orpha.net#86812 "POMT1-related limb-girdle muscular dystrophy R11"
* https://www.orpha.net#86816 "Congenital analbuminemia"
* https://www.orpha.net#86819 "Atrichia with papular lesions"
* https://www.orpha.net#86821 "Lissencephaly type 3-familial fetal akinesia sequence syndrome"
* https://www.orpha.net#86867 "Nodal marginal zone B-cell lymphoma"
* https://www.orpha.net#86872 "T-cell large granular lymphocyte leukemia"
* https://www.orpha.net#86893 "Nodular lymphocyte predominant Hodgkin lymphoma"
* https://www.orpha.net#86896 "Histiocytic sarcoma"
* https://www.orpha.net#86903 "Dendritic cell sarcoma not otherwise specified"
* https://www.orpha.net#86914 "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome"
* https://www.orpha.net#88619 "Familial acute necrotizing encephalopathy"
* https://www.orpha.net#88635 "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates"
* https://www.orpha.net#88644 "Autosomal recessive ataxia, Beauce type"
* https://www.orpha.net#89842 "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form"
* https://www.orpha.net#90002 "Undifferentiated connective tissue syndrome"
* https://www.orpha.net#90050 "Retinopathy of prematurity"
* https://www.orpha.net#90062 "Acute liver failure"
* https://www.orpha.net#90081 "AIDS wasting syndrome"
* https://www.orpha.net#90103 "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome"
* https://www.orpha.net#90120 "Hereditary motor and sensory neuropathy type 6"
* https://www.orpha.net#90283 "Lupus erythematosus tumidus"
* https://www.orpha.net#90301 "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"
* https://www.orpha.net#90363 "Secondary intestinal lymphangiectasia"
* https://www.orpha.net#90394 "Discrete papular lichen myxedematosus"
* https://www.orpha.net#90396 "Acral persistent papular mucinosis"
* https://www.orpha.net#90399 "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms"
* https://www.orpha.net#90646 "Deafness-hypogonadism syndrome"
* https://www.orpha.net#90652 "Otopalatodigital syndrome type 2"
* https://www.orpha.net#90790 "Congenital lipoid adrenal hyperplasia due to STAR deficency"
* https://www.orpha.net#91135 "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"
* https://www.orpha.net#91351 "Pituitary dermoid and epidermoid cysts"
* https://www.orpha.net#91355 "Sheehan syndrome"
* https://www.orpha.net#91364 "Non-specific interstitial pneumonia"
* https://www.orpha.net#91396 "Isolated cryptophthalmia"
* https://www.orpha.net#91500 "Tubulointerstitial nephritis and uveitis syndrome"
* https://www.orpha.net#93164 "Transient pseudohypoaldosteronism"
* https://www.orpha.net#93276 "Polyostotic fibrous dysplasia"
* https://www.orpha.net#93283 "Spondyloepiphyseal dysplasia, Kimberley type"
* https://www.orpha.net#93293 "Okihiro syndrome"
* https://www.orpha.net#93555 "Mixed cryoglobulinemia type III"
* https://www.orpha.net#93558 "Light chain deposition disease"
* https://www.orpha.net#93571 "Dense deposit disease"
* https://www.orpha.net#93925 "Alobar holoprosencephaly"
* https://www.orpha.net#93958 "Oromandibular dystonia"
* https://www.orpha.net#93964 "Blepharospasm-oromandibular dystonia syndrome"
* https://www.orpha.net#94089 "Pseudohypoparathyroidism type 1B"
* https://www.orpha.net#94124 "Spinocerebellar ataxia with axonal neuropathy type 1"
* https://www.orpha.net#95433 "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"
* https://www.orpha.net#95494 "Combined pituitary hormone deficiencies, genetic forms"
* https://www.orpha.net#95613 "Pituitary apoplexy"
* https://www.orpha.net#96096 "Distal duplication 4q"
* https://www.orpha.net#96103 "Distal duplication 11q"
* https://www.orpha.net#96107 "Distal duplication 20q"
* https://www.orpha.net#96121 "7q11.23 microduplication syndrome"
* https://www.orpha.net#96170 "Emanuel syndrome"
* https://www.orpha.net#96179 "Maternal uniparental disomy of chromosome 2"
* https://www.orpha.net#96191 "Paternal uniparental disomy of chromosome 6"
* https://www.orpha.net#96194 "Paternal uniparental disomy of chromosome 20"
* https://www.orpha.net#96334 "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"
* https://www.orpha.net#97229 "Riboflavin transporter deficiency"
* https://www.orpha.net#97238 "Rippling muscle disease"
* https://www.orpha.net#97239 "Reducing body myopathy"
* https://www.orpha.net#97330 "Thoracic outlet syndrome"
* https://www.orpha.net#97346 "ADan amyloidosis"
* https://www.orpha.net#97362 "Renal hypoplasia, bilateral"
* https://www.orpha.net#97563 "Pauci-immune glomerulonephritis with ANCA"
* https://www.orpha.net#97567 "Immunotactoid glomerulopathy"
* https://www.orpha.net#98267 "Genetic non-syndromic obesity"
* https://www.orpha.net#98769 "Spinocerebellar ataxia type 15/16"
* https://www.orpha.net#98811 "Paroxysmal exertion-induced dyskinesia"
* https://www.orpha.net#98813 "Hypohidrotic ectodermal dysplasia with immunodeficiency"
* https://www.orpha.net#98815 "Benign childhood occipital epilepsy, Panayiotopoulos type"
* https://www.orpha.net#98842 "Lymphomatoid papulosis"
* https://www.orpha.net#98890 "Early-onset X-linked optic atrophy"
* https://www.orpha.net#98911 "Distal myotilinopathy"
* https://www.orpha.net#98917 "Acute motor and sensory axonal neuropathy"
* https://www.orpha.net#98950 "Partial cryptophthalmia"
* https://www.orpha.net#98951 "Inverse Marcus-Gunn phenomenon"
* https://www.orpha.net#98955 "Lisch epithelial corneal dystrophy"
* https://www.orpha.net#98958 "Climatic droplet keratopathy"
* https://www.orpha.net#98959 "Subepithelial mucinous corneal dystrophy"
* https://www.orpha.net#98988 "Early-onset anterior polar cataract"
* https://www.orpha.net#99043 "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis"
* https://www.orpha.net#99063 "Shone complex"
* https://www.orpha.net#99079 "Cervical aortic arch"
* https://www.orpha.net#99087 "Coronary ostial stenosis or atresia"
* https://www.orpha.net#99089 "Abnormal number of coronary ostia"
* https://www.orpha.net#99094 "Laubry-Pezzi syndrome"
* https://www.orpha.net#99095 "Congenital Gerbode defect"
* https://www.orpha.net#99098 "Cor triatriatum dexter"
* https://www.orpha.net#99112 "Absence of innominate vein"
* https://www.orpha.net#99329 "48,XYYY syndrome"
* https://www.orpha.net#99704 "Early-onset obesity-hyperphagia-severe developmental delay syndrome"
* https://www.orpha.net#99736 "Acetazolamide-responsive myotonia"
* https://www.orpha.net#99789 "Dentin dysplasia type I"
* https://www.orpha.net#99802 "Hemimegalencephaly"
* https://www.orpha.net#99803 "Haddad syndrome"
* https://www.orpha.net#99806 "Oculootodental syndrome"
* https://www.orpha.net#99824 "Lassa fever"
* https://www.orpha.net#99844 "Leukocyte adhesion deficiency type III"
* https://www.orpha.net#99857 "Secondary syringomyelia"
* https://www.orpha.net#99865 "Spermatocytic seminoma"
* https://www.orpha.net#99903 "Spirillary rat-bite fever"
* https://www.orpha.net#99918 "Streptococcal toxic-shock syndrome"
* https://www.orpha.net#99925 "Invasive mole"
* https://www.orpha.net#99940 "Autosomal dominant Charcot-Marie-Tooth disease type 2F"
* https://www.orpha.net#99947 "Autosomal dominant Charcot-Marie-Tooth disease type 2A2"
* https://www.orpha.net#99967 "Myxoid/round cell liposarcoma"
* https://www.orpha.net#99970 "Dedifferentiated liposarcoma"
* https://www.orpha.net#99995 "Complex regional pain syndrome type 1"
* https://www.orpha.net#100000 "Reticular perineurioma"
* https://www.orpha.net#100013 "Lissencephaly with cerebellar hypoplasia type C"
* https://www.orpha.net#100014 "Lissencephaly with cerebellar hypoplasia type D"
* https://www.orpha.net#100020 "Refractory anemia with excess blasts type 2"
* https://www.orpha.net#100024 "Mu-heavy chain disease"
* https://www.orpha.net#100034 "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"
* https://www.orpha.net#100047 "Esophageal duplication cyst"
* https://www.orpha.net#100055 "Acquired angioedema type 2"
* https://www.orpha.net#100081 "Neuroendocrine tumor of the rectum"
* https://www.orpha.net#100924 "Porphyria due to ALA dehydratase deficiency"
* https://www.orpha.net#100978 "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome"
* https://www.orpha.net#101075 "X-linked Charcot-Marie-Tooth disease type 1"
* https://www.orpha.net#101076 "X-linked Charcot-Marie-Tooth disease type 2"
* https://www.orpha.net#101083 "Charcot-Marie-Tooth disease type 1C"
* https://www.orpha.net#101092 "Hyper-IgM syndrome type 5"
* https://www.orpha.net#101097 "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"
* https://www.orpha.net#101101 "Charcot-Marie-Tooth disease type 2B2"
* https://www.orpha.net#101150 "Autosomal recessive dopa-responsive dystonia"
* https://www.orpha.net#101334 "African tick typhus"
* https://www.orpha.net#102381 "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"
* https://www.orpha.net#137577 "Neonatal hypoxic and ischemic brain injury"
* https://www.orpha.net#137593 "Infectious epithelial keratitis"
* https://www.orpha.net#137631 "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"
* https://www.orpha.net#137634 "Overgrowth-macrocephaly-facial dysmorphism syndrome"
* https://www.orpha.net#137783 "Lethal congenital contracture syndrome type 3"
* https://www.orpha.net#137839 "Lemierre syndrome"
* https://www.orpha.net#137920 "Choanal atresia, bilateral"
* https://www.orpha.net#137926 "Primary laryngeal lymphangioma"
* https://www.orpha.net#137935 "Laryngotracheal angioma"
* https://www.orpha.net#139431 "Jeavons syndrome"
* https://www.orpha.net#139474 "17q11.2 microduplication syndrome"
* https://www.orpha.net#139518 "Distal hereditary motor neuropathy type 1"
* https://www.orpha.net#140908 "Brachydactyly type B2"
* https://www.orpha.net#140941 "Short stature due to primary acid-labile subunit deficiency"
* https://www.orpha.net#140976 "RHYNS syndrome"
* https://www.orpha.net#141071 "Digestive duplication cyst of the tongue"
* https://www.orpha.net#141083 "Nasolacrimal duct cyst"
* https://www.orpha.net#141103 "Nasal dermoid cyst"
* https://www.orpha.net#141124 "Congenital laryngeal cyst"
* https://www.orpha.net#141145 "Hemifacial hyperplasia"
* https://www.orpha.net#141168 "Frontonasal arteriovenous malformation"
* https://www.orpha.net#141171 "Maxillary arteriovenous malformation"
* https://www.orpha.net#141219 "Nasal dorsum fistula"
* https://www.orpha.net#158000 "Juvenile xanthogranuloma"
* https://www.orpha.net#158011 "Necrobiotic xanthogranuloma"
* https://www.orpha.net#158681 "Epidermolysis bullosa simplex with circinate migratory erythema"
* https://www.orpha.net#163665 "Spondyloepiphyseal dysplasia tarda, Kohn type"
* https://www.orpha.net#163985 "Hyperekplexia-epilepsy syndrome"
* https://www.orpha.net#166016 "Multiple epiphyseal dysplasia, Lowry type"
* https://www.orpha.net#166029 "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia"
* https://www.orpha.net#166105 "FASTKD2-related infantile mitochondrial encephalomyopathy"
* https://www.orpha.net#166113 "Bazex syndrome"
* https://www.orpha.net#166427 "Startle epilepsy"
* https://www.orpha.net#168451 "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome"
* https://www.orpha.net#168491 "Late infantile neuronal ceroid lipofuscinosis"
* https://www.orpha.net#168569 "H syndrome"
* https://www.orpha.net#168606 "Seborrhea-like dermatitis with psoriasiform elements"
* https://www.orpha.net#168621 "Dysplasia of head of femur, Meyer type"
* https://www.orpha.net#168953 "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement"
* https://www.orpha.net#169160 "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"
* https://www.orpha.net#169793 "Severe hemophilia B"
* https://www.orpha.net#169802 "Severe hemophilia A"
* https://www.orpha.net#171607 "X-linked spastic paraplegia type 34"
* https://www.orpha.net#178342 "Inflammatory myofibroblastic tumor"
* https://www.orpha.net#178345 "Aromatase excess syndrome"
* https://www.orpha.net#178487 "Adult intestinal botulism"
* https://www.orpha.net#178533 "Primary cutaneous gamma/delta-positive T-cell lymphoma"
* https://www.orpha.net#178544 "Primary cutaneous diffuse large B-cell lymphoma, leg type"
* https://www.orpha.net#180111 "Bicervical bicornuate uterus with patent cervix and vagina"
* https://www.orpha.net#183663 "Hyper-IgM syndrome with susceptibility to opportunistic infections"
* https://www.orpha.net#199302 "Isolated cleft lip"
* https://www.orpha.net#199323 "Endophthalmitis"
* https://www.orpha.net#199630 "Isolated cerebellar vermis hypoplasia"
* https://www.orpha.net#206436 "Infantile Krabbe disease"
* https://www.orpha.net#206554 "Fukutin-related limb-girdle muscular dystrophy R13"
* https://www.orpha.net#206575 "Rippling muscle disease with myasthenia gravis"
* https://www.orpha.net#206994 "Bacterial myositis"
* https://www.orpha.net#209905 "Brain-lung-thyroid syndrome"
* https://www.orpha.net#209908 "Isolated childhood apraxia of speech"
* https://www.orpha.net#213528 "Rare adenocarcinoma of the breast"
* https://www.orpha.net#213557 "Salivary gland type cancer of the breast"
* https://www.orpha.net#213610 "Carcinosarcoma of the corpus uteri"
* https://www.orpha.net#213615 "Rhabdomyosarcoma of the corpus uteri"
* https://www.orpha.net#213716 "Squamous cell carcinoma of the corpus uteri"
* https://www.orpha.net#213721 "Undifferentiated carcinoma of the corpus uteri"
* https://www.orpha.net#213726 "Serous carcinoma of the corpus uteri"
* https://www.orpha.net#213767 "Squamous cell carcinoma of the cervix uteri"
* https://www.orpha.net#213792 "Adenosarcoma of the cervix uteri"
* https://www.orpha.net#216972 "Niemann-Pick disease type C, severe perinatal form"
* https://www.orpha.net#217067 "Pouchitis"
* https://www.orpha.net#217260 "Progressive multifocal leukoencephalopathy"
* https://www.orpha.net#217266 "BNAR syndrome"
* https://www.orpha.net#217371 "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"
* https://www.orpha.net#217385 "17p13.3 microduplication syndrome"
* https://www.orpha.net#217399 "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation"
* https://www.orpha.net#217557 "Pulmonary interstitial glycogenosis"
* https://www.orpha.net#220295 "Xeroderma pigmentosum-Cockayne syndrome complex"
* https://www.orpha.net#220448 "Macrothrombocytopenia with mitral valve insufficiency"
* https://www.orpha.net#221008 "Rothmund-Thomson syndrome type 1"
* https://www.orpha.net#221016 "Rothmund-Thomson syndrome type 2"
* https://www.orpha.net#221054 "Acrocephalopolydactyly"
* https://www.orpha.net#221091 "Trigeminal neuralgia"
* https://www.orpha.net#221126 "Fowler vasculopathy"
* https://www.orpha.net#225154 "Familial infantile bilateral striatal necrosis"
* https://www.orpha.net#227510 "Multiple system atrophy, cerebellar type"
* https://www.orpha.net#228116 "Hughes-Stovin syndrome"
* https://www.orpha.net#228236 "Linear focal elastosis"
* https://www.orpha.net#228243 "Elastofibroma dorsi"
* https://www.orpha.net#228277 "Familial anetoderma"
* https://www.orpha.net#228290 "White fibrous papulosis of the neck"
* https://www.orpha.net#228293 "Pseudoxanthoma elasticum-like papillary dermal elastolysis"
* https://www.orpha.net#228340 "CLN4A disease"
* https://www.orpha.net#228363 "CLN6 disease"
* https://www.orpha.net#228410 "Polyvalvular heart disease syndrome"
* https://www.orpha.net#231117 "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"
* https://www.orpha.net#231249 "Hemoglobin E-beta-thalassemia syndrome"
* https://www.orpha.net#238269 "AApoAII amyloidosis"
* https://www.orpha.net#238329 "Severe X-linked mitochondrial encephalomyopathy"
* https://www.orpha.net#238593 "IgG4-related mesenteritis"
* https://www.orpha.net#238670 "Isolated thyrotropin-releasing hormone deficiency"
* https://www.orpha.net#238722 "Familial congenital mirror movements"
* https://www.orpha.net#238769 "1q44 microdeletion syndrome"
* https://www.orpha.net#240071 "Classic progressive supranuclear palsy syndrome"
* https://www.orpha.net#240094 "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome"
* https://www.orpha.net#240112 "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome"
* https://www.orpha.net#243343 "Dimethylglycine dehydrogenase deficiency"
* https://www.orpha.net#247245 "Superficial siderosis"
* https://www.orpha.net#247768 "Müllerian aplasia and hyperandrogenism"
* https://www.orpha.net#247794 "Juvenile cataract-microcornea-renal glucosuria syndrome"
* https://www.orpha.net#247827 "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome"
* https://www.orpha.net#250923 "Isolated aniridia"
* https://www.orpha.net#251287 "Benign concentric annular macular dystrophy"
* https://www.orpha.net#251304 "Infantile onset panniculitis with uveitis and systemic granulomatosis"
* https://www.orpha.net#251370 "Sickle cell-hemoglobin D disease syndrome"
* https://www.orpha.net#251393 "Localized junctional epidermolysis bullosa"
* https://www.orpha.net#251510 "46,XY partial gonadal dysgenesis"
* https://www.orpha.net#251579 "Giant cell glioblastoma"
* https://www.orpha.net#251601 "Fibrillary astrocytoma"
* https://www.orpha.net#251627 "Oligodendroglioma"
* https://www.orpha.net#251674 "Chordoid glioma"
* https://www.orpha.net#251931 "Cerebellar liponeurocytoma"
* https://www.orpha.net#252050 "Primary melanoma of the central nervous system"
* https://www.orpha.net#252206 "Melanoma and neural system tumor syndrome"
* https://www.orpha.net#254351 "Distal 7q11.23 microdeletion syndrome"
* https://www.orpha.net#254379 "Linear lichen planus"
* https://www.orpha.net#254516 "Temple syndrome"
* https://www.orpha.net#254528 "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"
* https://www.orpha.net#254864 "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency"
* https://www.orpha.net#254881 "Spinocerebellar ataxia with epilepsy"
* https://www.orpha.net#261112 "Monosomy 9p"
* https://www.orpha.net#261197 "Proximal 16p11.2 microdeletion syndrome"
* https://www.orpha.net#261494 "Kleefstra syndrome"
* https://www.orpha.net#261519 "Maternal uniparental disomy of chromosome X"
* https://www.orpha.net#263297 "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"
* https://www.orpha.net#263487 "COG5-CDG"
* https://www.orpha.net#263494 "DPM3-CDG"
* https://www.orpha.net#263534 "Acral peeling skin syndrome"
* https://www.orpha.net#263543 "Generalized peeling skin syndrome"
* https://www.orpha.net#268162 "Intermediate maple syrup urine disease"
* https://www.orpha.net#268820 "Cranial meningocele"
* https://www.orpha.net#268826 "Parietal encephalocele"
* https://www.orpha.net#268973 "Isolated focal cortical dysplasia type Ia"
* https://www.orpha.net#269212 "Isolated Dandy-Walker malformation with hydrocephalus"
* https://www.orpha.net#275872 "Frontotemporal dementia with motor neuron disease"
* https://www.orpha.net#276183 "Spinocerebellar ataxia type 32"
* https://www.orpha.net#276212 "Mucopolysaccharidosis type 6, rapidly progressing"
* https://www.orpha.net#276238 "Machado-Joseph disease type 1"
* https://www.orpha.net#276435 "Lower motor neuron syndrome with late-adult onset"
* https://www.orpha.net#276580 "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"
* https://www.orpha.net#276603 "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"
* https://www.orpha.net#279882 "Spasmus nutans"
* https://www.orpha.net#279891 "Chronic endophthalmitis"
* https://www.orpha.net#280195 "Septopreoptic holoprosencephaly"
* https://www.orpha.net#280365 "Autosomal semi-dominant severe lipodystrophic laminopathy"
* https://www.orpha.net#280558 "Warsaw breakage syndrome"
* https://www.orpha.net#280586 "Chondrodysplasia with joint dislocations, gPAPP type"
* https://www.orpha.net#280763 "Severe intellectual disability and progressive spastic paraplegia"
* https://www.orpha.net#280794 "Pseudoxanthomatous diffuse cutaneous mastocytosis"
* https://www.orpha.net#280847 "Congenital pulmonary airway malformation type 3"
* https://www.orpha.net#284395 "Well-differentiated fetal adenocarcinoma of the lung"
* https://www.orpha.net#284454 "Acute zonal occult outer retinopathy"
* https://www.orpha.net#284973 "Marfan syndrome type 2"
* https://www.orpha.net#289347 "Infective dermatitis associated with HTLV-1"
* https://www.orpha.net#289356 "Primary non-gestational choriocarcinoma of ovary"
* https://www.orpha.net#289365 "Familial vesicoureteral reflux"
* https://www.orpha.net#289385 "Malignancy diagnosed during pregnancy"
* https://www.orpha.net#289499 "Congenital cataract microcornea with corneal opacity"
* https://www.orpha.net#289596 "Juvenile nasopharyngeal angiofibroma"
* https://www.orpha.net#293168 "Infantile-onset ascending hereditary spastic paralysis"
* https://www.orpha.net#293375 "Grayson-Wilbrandt corneal dystrophy"
* https://www.orpha.net#293621 "X-linked endothelial corneal dystrophy"
* https://www.orpha.net#293936 "EDICT syndrome"
* https://www.orpha.net#294986 "Apodia"
* https://www.orpha.net#295036 "Congenital patella dislocation"
* https://www.orpha.net#295241 "Macrodactyly of fingers, bilateral"
* https://www.orpha.net#295243 "Macrodactyly of toes, unilateral"
* https://www.orpha.net#300382 "Progeroid and marfanoid aspect-lipodystrophy syndrome"
* https://www.orpha.net#300525 "Pseudohypoaldosteronism type 2D"
* https://www.orpha.net#300547 "Autosomal recessive infantile hypercalcemia"
* https://www.orpha.net#300576 "Oligodontia-cancer predisposition syndrome"
* https://www.orpha.net#300605 "Juvenile amyotrophic lateral sclerosis"
* https://www.orpha.net#306511 "Autosomal recessive spastic paraplegia type 48"
* https://www.orpha.net#306550 "FADD-related immunodeficiency"
* https://www.orpha.net#306661 "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"
* https://www.orpha.net#308386 "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"
* https://www.orpha.net#308393 "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"
* https://www.orpha.net#308621 "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"
* https://www.orpha.net#308684 "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"
* https://www.orpha.net#308698 "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"
* https://www.orpha.net#309031 "Pancreatic triacylglycerol lipase deficiency"
* https://www.orpha.net#309271 "Metachromatic leukodystrophy, adult form"
* https://www.orpha.net#309282 "Alpha-mannosidosis, infantile form"
* https://www.orpha.net#309288 "Alpha-mannosidosis, adult form"
* https://www.orpha.net#309803 "Rhizomelic chondrodysplasia punctata type 3"
* https://www.orpha.net#313808 "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"
* https://www.orpha.net#314404 "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"
* https://www.orpha.net#314422 "Ameloblastic carcinoma"
* https://www.orpha.net#314473 "Ovarian fibroma"
* https://www.orpha.net#314647 "Non-progressive cerebellar ataxia with intellectual disability"
* https://www.orpha.net#314684 "Primary bone lymphoma"
* https://www.orpha.net#314790 "Null pituitary adenoma"
* https://www.orpha.net#319195 "Chondroectodermal dysplasia with night blindness"
* https://www.orpha.net#319213 "Lujo hemorrhagic fever"
* https://www.orpha.net#319254 "Kyasanur forest disease"
* https://www.orpha.net#319480 "Acute myeloid leukemia with CEBPA somatic mutations"
* https://www.orpha.net#319487 "Familial papillary or follicular thyroid carcinoma"
* https://www.orpha.net#319595 "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"
* https://www.orpha.net#319600 "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"
* https://www.orpha.net#319651 "Constitutional megaloblastic anemia with severe neurologic disease"
* https://www.orpha.net#324410 "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"
* https://www.orpha.net#324708 "ABeta amyloidosis, Iowa type"
* https://www.orpha.net#329324 "Inverse Klippel-Trénaunay syndrome"
* https://www.orpha.net#329329 "Autosomal recessive frontotemporal pachygyria"
* https://www.orpha.net#329931 "C3 glomerulonephritis"
* https://www.orpha.net#329942 "Transient neonatal multiple acyl-CoA dehydrogenase deficiency"
* https://www.orpha.net#331235 "Selective IgM deficiency"
* https://www.orpha.net#352649 "Brain dopamine-serotonin vesicular transport disease"
* https://www.orpha.net#352682 "Cobblestone lissencephaly without muscular or ocular involvement"
* https://www.orpha.net#352763 "Scleredema"
* https://www.orpha.net#353220 "Familial primary localized cutaneous amyloidosis"
* https://www.orpha.net#353284 "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"
* https://www.orpha.net#357074 "Autosomal recessive cutis laxa type 2, classic type"
* https://www.orpha.net#357154 "Oral submucous fibrosis"
* https://www.orpha.net#357237 "Severe combined immunodeficiency due to CARD11 deficiency"
* https://www.orpha.net#357332 "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome"
* https://www.orpha.net#363409 "Fetal akinesia-cerebral and retinal hemorrhage syndrome"
* https://www.orpha.net#363429 "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"
* https://www.orpha.net#363447 "Autosomal dominant childhood-onset proximal spinal muscular atrophy"
* https://www.orpha.net#363489 "Sex cord-stromal tumor of testis"
* https://www.orpha.net#363494 "Non-seminomatous germ cell tumor of testis"
* https://www.orpha.net#363618 "LMNA-related cardiocutaneous progeria syndrome"
* https://www.orpha.net#363717 "Alexander disease type I"
* https://www.orpha.net#363965 "Koolen-De Vries syndrome due to a point mutation"
* https://www.orpha.net#363976 "Giant cell tumor of bone"
* https://www.orpha.net#363981 "Charcot-Marie-Tooth disease type 4B3"
* https://www.orpha.net#363999 "Non-immune hydrops fetalis"
* https://www.orpha.net#364198 "Bipartite talus"
* https://www.orpha.net#369861 "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"
* https://www.orpha.net#369867 "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"
* https://www.orpha.net#369891 "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency"
* https://www.orpha.net#369913 "Combined oxidative phosphorylation defect type 17"
* https://www.orpha.net#369962 "Methylmalonic acidemia with homocystinuria, type cblX"
* https://www.orpha.net#370348 "Peripheral primitive neuroectodermal tumor"
* https://www.orpha.net#370959 "Congenital muscular dystrophy with cerebellar involvement"
* https://www.orpha.net#370968 "Congenital muscular dystrophy with intellectual disability"
* https://www.orpha.net#391316 "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"
* https://www.orpha.net#391320 "East Texas bleeding disorder"
* https://www.orpha.net#391327 "X-linked calvarial hyperostosis"
* https://www.orpha.net#391348 "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"
* https://www.orpha.net#391497 "Juvenile myasthenia gravis"
* https://www.orpha.net#391655 "Off-periods in Parkinson disease not responding to oral treatment"
* https://www.orpha.net#391673 "Necrotizing enterocolitis"
* https://www.orpha.net#397692 "Hereditary isolated aplastic anemia"
* https://www.orpha.net#397744 "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"
* https://www.orpha.net#397787 "Severe combined immunodeficiency due to IKK2 deficiency"
* https://www.orpha.net#397933 "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"
* https://www.orpha.net#397964 "Combined immunodeficiency due to MALT1 deficiency"
* https://www.orpha.net#398069 "MAGEL2-related Prader-Willi-like syndrome"
* https://www.orpha.net#398079 "SIM1-related Prader-Willi-like syndrome"
* https://www.orpha.net#398109 "Neonatal autoimmune hemolytic anemia"
* https://www.orpha.net#398124 "Neonatal lupus erythematosus"
* https://www.orpha.net#399081 "KLHL9-related early-onset distal myopathy"
* https://www.orpha.net#399086 "Finnish upper limb-onset distal myopathy"
* https://www.orpha.net#399329 "Epiphysiolysis of the hip"
* https://www.orpha.net#401768 "Proximal myopathy with extrapyramidal signs"
* https://www.orpha.net#401923 "9q31.1q31.3 microdeletion syndrome"
* https://www.orpha.net#401964 "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"
* https://www.orpha.net#401996 "Karyomegalic interstitial nephritis"
* https://www.orpha.net#402003 "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"
* https://www.orpha.net#402035 "Eosinophilic colitis"
* https://www.orpha.net#402075 "Familial bicuspid aortic valve"
* https://www.orpha.net#404443 "Tatton-Brown-Rahman syndrome"
* https://www.orpha.net#411590 "Wolfram-like syndrome"
* https://www.orpha.net#411602 "Hereditary late-onset Parkinson disease"
* https://www.orpha.net#411629 "Infantile nephropathic cystinosis"
* https://www.orpha.net#418945 "Carcinoma of esophagus, salivary gland type"
* https://www.orpha.net#420728 "Combined oxidative phosphorylation defect type 20"
* https://www.orpha.net#423296 "Spinocerebellar ataxia type 38"
* https://www.orpha.net#423712 "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy"
* https://www.orpha.net#423894 "Microcephaly-complex motor and sensory axonal neuropathy syndrome"
* https://www.orpha.net#431166 "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"
* https://www.orpha.net#431255 "Scapuloperoneal spinal muscular atrophy"
* https://www.orpha.net#431329 "Autosomal recessive spastic paraplegia type 57"
* https://www.orpha.net#431344 "Urachal sinus"
* https://www.orpha.net#431347 "Urachal diverticulum"
* https://www.orpha.net#435638 "3p25.3 microdeletion syndrome"
* https://www.orpha.net#435845 "Lethal neonatal spasticity-epileptic encephalopathy syndrome"
* https://www.orpha.net#435998 "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D"
* https://www.orpha.net#436144 "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"
* https://www.orpha.net#436245 "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"
* https://www.orpha.net#439822 "PDE4D haploinsufficiency syndrome"
* https://www.orpha.net#440392 "Interstitial lung disease due to SP-C deficiency"
* https://www.orpha.net#440724 "Extensive peripapillary myelinated nerve fibers"
* https://www.orpha.net#443057 "Sporadic porphyria cutanea tarda"
* https://www.orpha.net#443073 "Charcot-Marie-Tooth disease type 2S"
* https://www.orpha.net#443084 "Baroreflex failure"
* https://www.orpha.net#443236 "Postural orthostatic tachycardia syndrome due to NET deficiency"
* https://www.orpha.net#444138 "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"
* https://www.orpha.net#445018 "Combined immunodeficiency due to LRBA deficiency"
* https://www.orpha.net#447731 "NIK deficiency"
* https://www.orpha.net#447784 "Mitochondrial pyruvate carrier deficiency"
* https://www.orpha.net#448010 "CAD-CDG"
* https://www.orpha.net#448242 "Autosomal recessive brachyolmia"
* https://www.orpha.net#449280 "Scedosporiosis"
* https://www.orpha.net#454718 "Holmes-Adie syndrome"
* https://www.orpha.net#454836 "Avian influenza"
* https://www.orpha.net#9 "Tetrasomy X"
* https://www.orpha.net#10 "48,XXYY syndrome"
* https://www.orpha.net#11 "Pentasomy X"
* https://www.orpha.net#20 "3-hydroxy-3-methylglutaric aciduria"
* https://www.orpha.net#30 "Hereditary orotic aciduria"
* https://www.orpha.net#38 "Acrokeratoelastoidosis of Costa"
* https://www.orpha.net#44 "Neonatal adrenoleukodystrophy"
* https://www.orpha.net#53 "Albers-Schönberg osteopetrosis"
* https://www.orpha.net#71 "Chylomicron retention disease"
* https://www.orpha.net#80 "Antiphospholipid syndrome"
* https://www.orpha.net#81 "Antisynthetase syndrome"
* https://www.orpha.net#84 "Fanconi anemia"
* https://www.orpha.net#88 "Idiopathic aplastic anemia"
* https://www.orpha.net#91 "Aromatase deficiency"
* https://www.orpha.net#108 "Babesiosis"
* https://www.orpha.net#116 "Beckwith-Wiedemann syndrome"
* https://www.orpha.net#126 "Blepharophimosis-ptosis-epicanthus inversus syndrome"
* https://www.orpha.net#135 "CACH syndrome"
* https://www.orpha.net#457077 "TAFRO syndrome"
* https://www.orpha.net#457193 "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"
* https://www.orpha.net#457240 "X-linked intellectual disability-short stature-overweight syndrome"
* https://www.orpha.net#457260 "X-linked intellectual disability-hypotonia-movement disorder syndrome"
* https://www.orpha.net#457359 "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"
* https://www.orpha.net#457375 "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement"
* https://www.orpha.net#457395 "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"
* https://www.orpha.net#458792 "Mixed cystic lymphatic malformation"
* https://www.orpha.net#459061 "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"
* https://www.orpha.net#459074 "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome"
* https://www.orpha.net#464282 "Spastic paraplegia-severe developmental delay-epilepsy syndrome"
* https://www.orpha.net#464370 "Neonatal alloimmune neutropenia"
* https://www.orpha.net#464443 "COG6-CGD"
* https://www.orpha.net#464453 "Acquired methemoglobinemia"
* https://www.orpha.net#465824 "Fetal encasement syndrome"
* https://www.orpha.net#466682 "Euthyroid Graves orbitopathy"
* https://www.orpha.net#466962 "SMARCA4-deficient sarcoma of thorax"
* https://www.orpha.net#477738 "Pediatric multiple sclerosis"
* https://www.orpha.net#480524 "Idiopathic peliosis hepatis"
* https://www.orpha.net#480907 "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"
* https://www.orpha.net#481152 "PYCR2-related microcephaly-progressive leukoencephalopathy"
* https://www.orpha.net#488197 "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"
* https://www.orpha.net#488239 "Acute macular neuroretinopathy"
* https://www.orpha.net#488594 "Autosomal recessive spastic paraplegia type 76"
* https://www.orpha.net#488613 "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"
* https://www.orpha.net#496790 "Ocular anomalies-axonal neuropathy-developmental delay syndrome"
* https://www.orpha.net#497764 "Spinocerebellar ataxia type 43"
* https://www.orpha.net#498488 "Overgrowth syndrome with 2q37 translocation"
* https://www.orpha.net#498602 "Sugarman brachydactyly"
* https://www.orpha.net#500159 "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom"
* https://www.orpha.net#500188 "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"
* https://www.orpha.net#500533 "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome"
* https://www.orpha.net#500545 "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"
* https://www.orpha.net#506075 "Non-functioning neuroendocrine tumor of pancreas"
* https://www.orpha.net#506784 "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome"
* https://www.orpha.net#508093 "MEPAN syndrome"
* https://www.orpha.net#508501 "Oral-facial-digital syndrome with short stature and brachymesophalangy"
* https://www.orpha.net#508533 "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome"
* https://www.orpha.net#514352 "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome"
* https://www.orpha.net#519400 "Peripapillary staphyloma"
* https://www.orpha.net#519402 "Isolated megalopapilla"
* https://www.orpha.net#519406 "Thygeson superficial punctate keratitis"
* https://www.orpha.net#519408 "Mooren ulcer"
* https://www.orpha.net#521438 "Congenital vertebral-cardiac-renal anomalies syndrome"
* https://www.orpha.net#522077 "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"
* https://www.orpha.net#527450 "Severe myopia-generalized joint laxity-short stature syndrome"
* https://www.orpha.net#527497 "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy"
* https://www.orpha.net#529665 "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome"
* https://www.orpha.net#529799 "Acute bilirubin encephalopathy"
* https://www.orpha.net#529970 "Male infertility due to acephalic spermatozoa"
* https://www.orpha.net#531151 "9q21.13 microdeletion syndrome"
* https://www.orpha.net#536516 "Myopathic Ehlers-Danlos syndrome"
* https://www.orpha.net#538863 "Classic pyoderma gangrenosum"
* https://www.orpha.net#538931 "X-linked lymphoproliferative disease due to SH2D1A deficiency"
* https://www.orpha.net#542643 "Livedoid vasculopathy"
* https://www.orpha.net#544469 "PRUNE1-related neurological syndrome"
* https://www.orpha.net#556030 "Early-onset familial hypoaldosteronism"
* https://www.orpha.net#557064 "Neonatal epileptic encephalopathy due to glutaminase deficiency"
* https://www.orpha.net#564003 "Osteochondrosis of the metatarsal bone"
* https://www.orpha.net#157 "Carnitine palmitoyltransferase II deficiency"
* https://www.orpha.net#158 "Systemic primary carnitine deficiency"
* https://www.orpha.net#183 "Eosinophilic granulomatosis with polyangiitis"
* https://www.orpha.net#192 "Coffin-Lowry syndrome"
* https://www.orpha.net#201 "Cowden syndrome"
* https://www.orpha.net#211 "Familial cylindromatosis"
* https://www.orpha.net#218 "Darier disease"
* https://www.orpha.net#231 "Dracunculiasis"
* https://www.orpha.net#257 "Epidermolysis bullosa simplex with muscular dystrophy"
* https://www.orpha.net#261 "Emery-Dreifuss muscular dystrophy"
* https://www.orpha.net#269 "Facioscapulohumeral dystrophy"
* https://www.orpha.net#274 "Bernard-Soulier syndrome"
* https://www.orpha.net#284 "Alveolar echinococcosis"
* https://www.orpha.net#286 "Vascular Ehlers-Danlos syndrome"
* https://www.orpha.net#291 "Congenital varicella syndrome"
* https://www.orpha.net#292 "Congenital enterovirus infection"
* https://www.orpha.net#312 "Autosomal dominant epidermolytic ichthyosis"
* https://www.orpha.net#314 "Erythroderma desquamativum"
* https://www.orpha.net#329 "Congenital factor XI deficiency"
* https://www.orpha.net#331 "Congenital factor XIII deficiency"
* https://www.orpha.net#334 "Familial atrial fibrillation"
* https://www.orpha.net#337 "Fibrodysplasia ossificans progressiva"
* https://www.orpha.net#355 "Gaucher disease"
* https://www.orpha.net#373 "Simpson-Golabi-Behmel syndrome"
* https://www.orpha.net#375 "Anti-glomerular basement membrane disease"
* https://www.orpha.net#376 "Gordon syndrome"
* https://www.orpha.net#390 "Histoplasmosis"
* https://www.orpha.net#423 "Malignant hyperthermia of anesthesia"
* https://www.orpha.net#424 "Familial hyperthyroidism due to mutations in TSH receptor"
* https://www.orpha.net#428 "Autosomal dominant hypocalcemia"
* https://www.orpha.net#449 "Hepatoblastoma"
* https://www.orpha.net#464 "Incontinentia pigmenti"
* https://www.orpha.net#470 "Lysinuric protein intolerance"
* https://www.orpha.net#472 "Isosporiasis"
* https://www.orpha.net#495 "Transgrediens et progrediens palmoplantar keratoderma"
* https://www.orpha.net#499 "Kerion celsi"
* https://www.orpha.net#501 "Lafora disease"
* https://www.orpha.net#512 "Metachromatic leukodystrophy"
* https://www.orpha.net#520 "Acute promyelocytic leukemia"
* https://www.orpha.net#524 "Li-Fraumeni syndrome"
* https://www.orpha.net#528 "Congenital generalized lipodystrophy"
* https://www.orpha.net#536 "Systemic lupus erythematosus"
* https://www.orpha.net#540 "Familial hemophagocytic lymphohistiocytosis"
* https://www.orpha.net#548 "Leprosy"
* https://www.orpha.net#556 "Malakoplakia"
* https://www.orpha.net#564 "Meckel syndrome"
* https://www.orpha.net#565 "Menkes disease"
* https://www.orpha.net#580 "Mucopolysaccharidosis type 2"
* https://www.orpha.net#583 "Mucopolysaccharidosis type 6"
* https://www.orpha.net#585 "Multiple sulfatase deficiency"
* https://www.orpha.net#591 "Furuncular myiasis"
* https://www.orpha.net#626 "Large congenital melanocytic nevus"
* https://www.orpha.net#628 "Diastrophic dysplasia"
* https://www.orpha.net#639 "Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG"
* https://www.orpha.net#660 "Omphalocele"
* https://www.orpha.net#672 "Pallister-Hall syndrome"
* https://www.orpha.net#678 "Papillon-Lefèvre syndrome"
* https://www.orpha.net#682 "Hyperkalemic periodic paralysis"
* https://www.orpha.net#702 "Pelizaeus-Merzbacher disease"
* https://www.orpha.net#708 "Peters anomaly"
* https://www.orpha.net#715 "Glycogen storage disease due to muscle phosphorylase kinase deficiency"
* https://www.orpha.net#725 "Continuous spikes and waves during sleep"
* https://www.orpha.net#730 "Autosomal dominant polycystic kidney disease"
* https://www.orpha.net#740 "Hutchinson-Gilford progeria syndrome"
* https://www.orpha.net#745 "Severe hereditary thrombophilia due to congenital protein C deficiency"
* https://www.orpha.net#752 "46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"
* https://www.orpha.net#756 "Pseudohypoaldosteronism type 1"
* https://www.orpha.net#758 "Pseudoxanthoma elasticum"
* https://www.orpha.net#761 "Immunoglobulin A vasculitis"
* https://www.orpha.net#765 "Pyruvate dehydrogenase deficiency"
* https://www.orpha.net#767 "Polyarteritis nodosa"
* https://www.orpha.net#774 "Hereditary hemorrhagic telangiectasia"
* https://www.orpha.net#776 "Lujan-Fryns syndrome"
* https://www.orpha.net#565624 "Combined oxidative phosphorylation defect type 39"
* https://www.orpha.net#565788 "Infantile inflammatory bowel disease with neurological involvement"
* https://www.orpha.net#565909 "Calpain-3-related limb-girdle muscular dystrophy D4"
* https://www.orpha.net#566192 "Congenital autosomal recessive small-platelet thrombocytopenia"
* https://www.orpha.net#568051 "GJC2-related late-onset primary lymphedema"
* https://www.orpha.net#569164 "Angiomatoid fibrous histiocytoma"
* https://www.orpha.net#569274 "Multiple mitochondrial dysfunctions syndrome type 5"
* https://www.orpha.net#569816 "CELSR1-related late-onset primary lymphedema"
* https://www.orpha.net#570491 "QRSL1-related combined oxidative phosphorylation defect"
* https://www.orpha.net#572768 "Microcephaly-micromelia syndrome"
* https://www.orpha.net#572773 "Microcephaly-short stature-limb abnormalities syndrome"
* https://www.orpha.net#576349 "NLRC4-related familial cold autoinflammatory syndrome"
* https://www.orpha.net#583856 "Isolated splenic vein thrombosis"
* https://www.orpha.net#585929 "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)"
* https://www.orpha.net#585948 "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)"
* https://www.orpha.net#589608 "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies"
* https://www.orpha.net#589618 "Dystonia 28"
* https://www.orpha.net#589824 "Childhood-onset Steinert myotonic dystrophy"
* https://www.orpha.net#589833 "Late-onset Steinert myotonic dystrophy"
* https://www.orpha.net#589856 "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"
* https://www.orpha.net#592574 "Menke-Hennekam syndrome"
* https://www.orpha.net#592869 "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies"
* https://www.orpha.net#592885 "Isolated optic neuritis without anti-MOG antibodies"
* https://www.orpha.net#592888 "Isolated optic neuritis with anti-MOG antibodies"
* https://www.orpha.net#596008 "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"
* https://www.orpha.net#596753 "VEXAS syndrome"
* https://www.orpha.net#597201 "TRIM22-related inflammatory bowel disease"
* https://www.orpha.net#599373 "STXBP1-related encephalopathy"
* https://www.orpha.net#599495 "Acquired factor VII deficiency"
* https://www.orpha.net#600975 "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type"
* https://www.orpha.net#601033 "Non-syndromic anorectal malformation with H-type fistula"
* https://www.orpha.net#603494 "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome"
* https://www.orpha.net#611247 "Pontocerebellar hypoplasia type 11"
* https://www.orpha.net#615986 "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster"
* https://www.orpha.net#617408 "Classic eosinophilic pustular folliculitis"
* https://www.orpha.net#617440 "Painful legs and moving toes syndrome"
* https://www.orpha.net#618891 "Chronic neurovisceral acid sphingomyelinase deficiency"
* https://www.orpha.net#619953 "Familial hyperinflammatory lymphoproliferative immunodeficiency"
* https://www.orpha.net#620139 "Non-syndromic unifrontosphenoidal craniosynostosis"
* https://www.orpha.net#622934 "SBDS-related severe neonatal spondylometaphyseal dysplasia"
* https://www.orpha.net#623789 "Body integrity dysphoria"
* https://www.orpha.net#631079 "Autosomal recessive spastic paraplegia type 84"
* https://www.orpha.net#631103 "Spinocerebellar ataxia type 48"
* https://www.orpha.net#633004 "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome"
* https://www.orpha.net#633124 "Invasive scopulariopsis infection"
* https://www.orpha.net#636950 "Glaucomatocyclitic crisis disease"
* https://www.orpha.net#636955 "Endemic pemphigus foliaceus"
* https://www.orpha.net#637013 "SMARCA2-related blepharophimosis-intellectual disability syndrome"
* https://www.orpha.net#641372 "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"
* https://www.orpha.net#642945 "Perrault syndrome type 1"
* https://www.orpha.net#645285 "Chaotic conus spinal cord lipoma"
* https://www.orpha.net#645337 "Terminal myelocystocele"
* https://www.orpha.net#646278 "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome"
* https://www.orpha.net#647794 "Isolated persistent urogenital sinus"
* https://www.orpha.net#647799 "MYT1L-related developmental delay-intellectual disability-obesity syndrome"
* https://www.orpha.net#648665 "Infectious scleritis"
* https://www.orpha.net#650082 "Secondary central precocious puberty in female"
* https://www.orpha.net#650092 "Secondary central precocious puberty in male"
* https://www.orpha.net#810 "Shigellosis"
* https://www.orpha.net#831 "Congenital cervical spinal stenosis"
* https://www.orpha.net#844 "Lown-Ganong-Levine syndrome"
* https://www.orpha.net#846 "Alpha-thalassemia"
* https://www.orpha.net#851 "Paris-Trousseau thrombocytopenia"
* https://www.orpha.net#857 "Townes-Brocks syndrome"
* https://www.orpha.net#858 "Congenital toxoplasmosis"
* https://www.orpha.net#884 "Tetrasomy 12p"
* https://www.orpha.net#896 "Waardenburg syndrome type 3"
* https://www.orpha.net#902 "Werner syndrome"
* https://www.orpha.net#904 "Williams syndrome"
* https://www.orpha.net#912 "Zellweger syndrome"
* https://www.orpha.net#913 "Zollinger-Ellison syndrome"
* https://www.orpha.net#926 "Acatalasemia"
* https://www.orpha.net#929 "Achalasia-microcephaly syndrome"
* https://www.orpha.net#930 "Idiopathic achalasia"
* https://www.orpha.net#931 "Acheiropodia"
* https://www.orpha.net#935 "Short-limb skeletal dysplasia with severe combined immunodeficiency"
* https://www.orpha.net#943 "Malonic aciduria"
* https://www.orpha.net#976 "Adenine phosphoribosyltransferase deficiency"
* https://www.orpha.net#981 "Internal carotid absence"
* https://www.orpha.net#1027 "Autosomal recessive amelia"
* https://www.orpha.net#1031 "Enamel-renal syndrome"
* https://www.orpha.net#1048 "Isolated anencephaly/exencephaly"
* https://www.orpha.net#1062 "Hereditary neurocutaneous malformation"
* https://www.orpha.net#1069 "Aniridia-absent patella syndrome"
* https://www.orpha.net#1101 "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome"
* https://www.orpha.net#1104 "Anophthalmia plus syndrome"
* https://www.orpha.net#1120 "Lung agenesis-heart defect-thumb anomalies syndrome"
* https://www.orpha.net#1129 "Arachnodactyly-abnormal ossification-intellectual disability syndrome"
* https://www.orpha.net#1131 "X-linked mandibulofacial dysostosis"
* https://www.orpha.net#1159 "Progressive pseudorheumatoid arthropathy of childhood"
* https://www.orpha.net#1179 "Benign paroxysmal tonic upgaze of childhood with ataxia"
* https://www.orpha.net#1184 "Ataxia-photosensitivity-short stature syndrome"
* https://www.orpha.net#1185 "Spinocerebellar ataxia-dysmorphism syndrome"
* https://www.orpha.net#1186 "Infantile-onset spinocerebellar ataxia"
* https://www.orpha.net#1208 "Pulmonary atresia-intact ventricular septum syndrome"
* https://www.orpha.net#1215 "Autosomal dominant optic atrophy plus syndrome"
* https://www.orpha.net#1234 "Bartsocas-Papas syndrome"
* https://www.orpha.net#1275 "Brachydactyly-elbow wrist dysplasia syndrome"
* https://www.orpha.net#1299 "Branchioskeletogenital syndrome"
* https://www.orpha.net#1310 "Caffey disease"
* https://www.orpha.net#1325 "Camptodactyly-taurinuria syndrome"
* https://www.orpha.net#1326 "Camptodactyly syndrome, Guadalajara type 2"
* https://www.orpha.net#1334 "Chronic mucocutaneous candidiasis"
* https://www.orpha.net#1336 "Hyperkeratosis-hyperpigmentation syndrome"
* https://www.orpha.net#1349 "Mitochondrial DNA-related cardiomyopathy and hearing loss"
* https://www.orpha.net#1350 "Heart-hand syndrome type 2"
* https://www.orpha.net#1359 "Carney complex"
* https://www.orpha.net#1380 "Cataract-nephropathy-encephalopathy syndrome"
* https://www.orpha.net#1387 "Cataract-intellectual disability-hypogonadism syndrome"
* https://www.orpha.net#1389 "Cortical blindness-intellectual disability-polydactyly syndrome"
* https://www.orpha.net#1427 "Otospondylomegaepiphyseal dysplasia"
* https://www.orpha.net#1429 "Benign hereditary chorea"
* https://www.orpha.net#1437 "Ring chromosome 1 syndrome"
* https://www.orpha.net#1443 "Ring chromosome 19 syndrome"
* https://www.orpha.net#1450 "Ring chromosome 8 syndrome"
* https://www.orpha.net#1485 "Arthrogryposis-hyperkeratosis syndrome, lethal form"
* https://www.orpha.net#1512 "Crane-Heise syndrome"
* https://www.orpha.net#1516 "Non-syndromic bilambdoid and sagittal craniosynostosis"
* https://www.orpha.net#1529 "Craniofacial-deafness-hand syndrome"
* https://www.orpha.net#1538 "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"
* https://www.orpha.net#1540 "Jackson-Weiss syndrome"
* https://www.orpha.net#1561 "Fatal infantile cytochrome C oxidase deficiency"
* https://www.orpha.net#1573 "Hypotrichosis with juvenile macular degeneration"
* https://www.orpha.net#1598 "Monosomy 18p"
* https://www.orpha.net#1627 "Deletion 5q35"
* https://www.orpha.net#1647 "Oculocerebrocutaneous syndrome"
* https://www.orpha.net#1652 "Dent disease"
* https://www.orpha.net#1672 "Diencephalic syndrome"
* https://www.orpha.net#1682 "Arterial dissection-lentiginosis syndrome"
* https://www.orpha.net#1764 "Familial dysautonomia"
* https://www.orpha.net#1775 "Dyskeratosis congenita"
* https://www.orpha.net#1777 "Temtamy syndrome"
* https://www.orpha.net#1788 "Acrofacial dysostosis, Rodríguez type"
* https://www.orpha.net#1795 "Peripheral dysostosis"
* https://www.orpha.net#1801 "Kyphomelic dysplasia"
* https://www.orpha.net#1818 "Ectodermal dysplasia, trichoodontoonychial type"
* https://www.orpha.net#1836 "Mesomelic dysplasia, Kantaputra type"
* https://www.orpha.net#1852 "X-linked retinal dysplasia"
* https://www.orpha.net#1858 "Skeletal dysplasia-epilepsy-short stature syndrome"
* https://www.orpha.net#1895 "Edinburgh malformation syndrome"
* https://www.orpha.net#1897 "EEM syndrome"
* https://www.orpha.net#1902 "Ehrlichiosis"
* https://www.orpha.net#1926 "Diabetic embryopathy"
* https://www.orpha.net#1948 "Epilepsy-microcephaly-skeletal dysplasia syndrome"
* https://www.orpha.net#1955 "Spinocerebellar ataxia type 34"
* https://www.orpha.net#1968 "Flat face-microstomia-ear anomaly syndrome"
* https://www.orpha.net#1988 "Femoral-facial syndrome"
* https://www.orpha.net#2004 "Laryngotracheoesophageal cleft"
* https://www.orpha.net#2013 "Cleft palate-large ears-small head syndrome"
* https://www.orpha.net#2019 "Femur-fibula-ulna complex"
* https://www.orpha.net#2026 "Gingival fibromatosis-hypertrichosis syndrome"
* https://www.orpha.net#2036 "Scalp-ear-nipple syndrome"
* https://www.orpha.net#2040 "Congenital respiratory-biliary fistula"
* https://www.orpha.net#2070 "Eosinophilic gastroenteritis"
* https://www.orpha.net#2085 "Glaucoma-sleep apnea syndrome"
* https://www.orpha.net#2089 "Glycogen storage disease due to hepatic glycogen synthase deficiency"
* https://www.orpha.net#2104 "Dysmorphism-pectus carinatum-joint laxity syndrome"
* https://www.orpha.net#2107 "Hall-Riggs syndrome"
* https://www.orpha.net#2126 "Solitary fibrous tumor"
* https://www.orpha.net#2133 "Hemoglobin E disease"
* https://www.orpha.net#2166 "Holoprosencephaly-postaxial polydactyly syndrome"
* https://www.orpha.net#2170 "Methylcobalamin deficiency type cblG"
* https://www.orpha.net#2182 "Hydrocephalus with stenosis of the aqueduct of Sylvius"
* https://www.orpha.net#2189 "Hydrolethalus"
* https://www.orpha.net#2194 "Anti-HLA hyperimmunization"
* https://www.orpha.net#2199 "Epidermolytic palmoplantar keratoderma"
* https://www.orpha.net#2202 "Palmoplantar keratoderma-deafness syndrome"
* https://www.orpha.net#2206 "Ankylosing vertebral hyperostosis with tylosis"
* https://www.orpha.net#2209 "Maternal phenylketonuria"
* https://www.orpha.net#2213 "Hypertelorism-microtia-facial clefting syndrome"
* https://www.orpha.net#2271 "Congenital ichthyosis-microcephalus-tetraplegia syndrome"
* https://www.orpha.net#2316 "Johnson neuroectodermal syndrome"
* https://www.orpha.net#2325 "Epidermolysis bullosa simplex with anodontia/hypodontia"
* https://www.orpha.net#2328 "Kapur-Toriello syndrome"
* https://www.orpha.net#2332 "KBG syndrome"
* https://www.orpha.net#2339 "Keratosis follicularis-dwarfism-cerebral atrophy syndrome"
* https://www.orpha.net#2364 "Glycogen storage disease due to lactate dehydrogenase deficiency"
* https://www.orpha.net#2375 "Laryngeal abductor paralysis-intellectual disability syndrome"
* https://www.orpha.net#2378 "Laurin-Sandrow syndrome"
* https://www.orpha.net#2388 "Choreoacanthocytosis"
* https://www.orpha.net#2400 "Peripheral motor neuropathy-dysautonomia syndrome"
* https://www.orpha.net#2406 "Locked-in syndrome"
* https://www.orpha.net#2408 "Lowe-Kohn-Cohen syndrome"
* https://www.orpha.net#2410 "Hypergonadotropic hypogonadism-cataract syndrome"
* https://www.orpha.net#2437 "Czeizel-Losonci syndrome"
* https://www.orpha.net#2456 "Familial supernumerary nipples"
* https://www.orpha.net#2460 "Van den Ende-Gupta syndrome"
* https://www.orpha.net#2463 "Marfanoid habitus-autosomal recessive intellectual disability syndrome"
* https://www.orpha.net#2479 "Megalocornea-intellectual disability syndrome"
* https://www.orpha.net#2508 "Corpus callosum agenesis-abnormal genitalia syndrome"
* https://www.orpha.net#2510 "Micro syndrome"
* https://www.orpha.net#2511 "Microbrachycephaly-ptosis-cleft lip syndrome"
* https://www.orpha.net#2557 "Mietens syndrome"
* https://www.orpha.net#2561 "Pyramidal molars-abnormal upper lip syndrome"
* https://www.orpha.net#2570 "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome"
* https://www.orpha.net#2579 "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome"
* https://www.orpha.net#2588 "Myhre syndrome"
* https://www.orpha.net#2631 "Mesomelic dwarfism-cleft palate-camptodactyly syndrome"
* https://www.orpha.net#2636 "Microcephalic osteodysplastic primordial dwarfism types I and III"
* https://www.orpha.net#2668 "Nephropathy-deafness-hyperparathyroidism syndrome"
* https://www.orpha.net#2690 "Neutropenia-monocytopenia-deafness syndrome"
* https://www.orpha.net#2728 "Blepharophimosis-intellectual disability syndrome, Ohdo type"
* https://www.orpha.net#2760 "OSLAM syndrome"
* https://www.orpha.net#2762 "Progressive osseous heteroplasia"
* https://www.orpha.net#2792 "Otofaciocervical syndrome"
* https://www.orpha.net#2839 "Pelvis-shoulder dysplasia"
* https://www.orpha.net#2848 "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"
* https://www.orpha.net#2869 "Peutz-Jeghers syndrome"
* https://www.orpha.net#2874 "Phakomatosis pigmentokeratotica"
* https://www.orpha.net#2884 "Piebaldism"
* https://www.orpha.net#2885 "Piebald trait-neurologic defects syndrome"
* https://www.orpha.net#2897 "Pityriasis rubra pilaris"
* https://www.orpha.net#2900 "Leri pleonosteosis"
* https://www.orpha.net#2929 "Juvenile polyposis syndrome"
* https://www.orpha.net#2932 "Chronic inflammatory demyelinating polyneuropathy"
* https://www.orpha.net#2942 "Postpoliomyelitis syndrome"
* https://www.orpha.net#2963 "Progeroid syndrome, Petty type"
* https://www.orpha.net#2980 "Acrootoocular syndrome"
* https://www.orpha.net#2987 "Antecubital pterygium syndrome"
* https://www.orpha.net#2995 "Baraitser-Winter cerebrofrontofacial syndrome"
* https://www.orpha.net#3002 "Immune thrombocytopenia"
* https://www.orpha.net#3016 "Absent radius-anogenital anomalies syndrome"
* https://www.orpha.net#3034 "Delayed membranous cranial ossification"
* https://www.orpha.net#3055 "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"
* https://www.orpha.net#3068 "Intellectual disability-myopathy-short stature-endocrine defect syndrome"
* https://www.orpha.net#3071 "Costello syndrome"
* https://www.orpha.net#3082 "Intellectual disability-polydactyly-uncombable hair syndrome"
* https://www.orpha.net#3098 "Rhizomelic syndrome, Urbach type"
* https://www.orpha.net#3109 "Mayer-Rokitansky-Küster-Hauser syndrome"
* https://www.orpha.net#3145 "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome"
* https://www.orpha.net#3177 "Spinocerebellar degeneration-corneal dystrophy syndrome"
* https://www.orpha.net#3186 "Holoprosencephaly-radial heart renal anomalies syndrome"
* https://www.orpha.net#3198 "Stiff person spectrum disorder"
* https://www.orpha.net#3214 "Deaf blind hypopigmentation syndrome, Yemenite type"
* https://www.orpha.net#3224 "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome"
* https://www.orpha.net#3225 "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome"
* https://www.orpha.net#3236 "Conductive deafness-ptosis-skeletal anomalies syndrome"
* https://www.orpha.net#3250 "Proximal symphalangism"
* https://www.orpha.net#3258 "Cenani-Lenz syndrome"
* https://www.orpha.net#3260 "Idiopathic hypereosinophilic syndrome"
* https://www.orpha.net#3287 "Takayasu arteritis"
* https://www.orpha.net#3303 "Tetralogy of Fallot"
* https://www.orpha.net#3305 "Tetraploidy"
* https://www.orpha.net#3314 "Thiemann disease, familial form"
* https://www.orpha.net#3319 "Congenital amegakaryocytic thrombocytopenia"
* https://www.orpha.net#3343 "Toxocariasis"
* https://www.orpha.net#3350 "Tremor-nystagmus-duodenal ulcer syndrome"
* https://www.orpha.net#3361 "Trichodysplasia-xeroderma syndrome"
* https://www.orpha.net#3376 "Triploidy"
* https://www.orpha.net#3377 "Trismus-pseudocamptodactyly syndrome"
* https://www.orpha.net#3379 "Distal duplication 17q"
* https://www.orpha.net#3380 "Trisomy 18"
* https://www.orpha.net#3387 "Isolated anterior cervical hypertrichosis"
* https://www.orpha.net#3408 "Upington disease"
* https://www.orpha.net#3412 "VACTERL with hydrocephalus"
* https://www.orpha.net#3424 "Velo-facial-skeletal syndrome"
* https://www.orpha.net#3427 "Double outlet left ventricle"
* https://www.orpha.net#3440 "Waardenburg syndrome"
* https://www.orpha.net#3449 "Weill-Marchesani syndrome"
* https://www.orpha.net#3452 "Whipple disease"
* https://www.orpha.net#3459 "Wilson-Turner syndrome"
* https://www.orpha.net#3464 "Woodhouse-Sakati syndrome"
* https://www.orpha.net#29072 "Hereditary pheochromocytoma-paraganglioma"
* https://www.orpha.net#30925 "Hereditary central diabetes insipidus"
* https://www.orpha.net#31824 "Colchicine poisoning"
* https://www.orpha.net#31827 "Paraquat poisoning"
* https://www.orpha.net#33001 "Lymphedema-distichiasis syndrome"
* https://www.orpha.net#33208 "Idiopathic hypersomnia"
* https://www.orpha.net#33475 "Meningococcal meningitis"
* https://www.orpha.net#33577 "Nodular non-suppurative panniculitis"
* https://www.orpha.net#35062 "Severe disseminated cytomegalovirus infection in immunocompetent patients"
* https://www.orpha.net#35889 "Acute opioid intoxication"
* https://www.orpha.net#36237 "Bullous impetigo"
* https://www.orpha.net#36273 "Gastric linitis plastica"
* https://www.orpha.net#36383 "COL4A1-related familial vascular leukoencephalopathy"
* https://www.orpha.net#37042 "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"
* https://www.orpha.net#37202 "Interstitial cystitis"
* https://www.orpha.net#37553 "Andersen-Tawil syndrome"
* https://www.orpha.net#37612 "Episodic ataxia type 1"
* https://www.orpha.net#42062 "Iminoglycinuria"
* https://www.orpha.net#43119 "Acute poisoning by drugs with membrane-stabilizing effect"
* https://www.orpha.net#45358 "Congenital fibrosis of extraocular muscles"
* https://www.orpha.net#46724 "Cerebral arteriovenous malformation"
* https://www.orpha.net#47044 "Hereditary papillary renal cell carcinoma"
* https://www.orpha.net#48372 "Nodular regenerative hyperplasia of the liver"
* https://www.orpha.net#48652 "Monosomy 22q13.3"
* https://www.orpha.net#50814 "Craniolenticulosutural dysplasia"
* https://www.orpha.net#50817 "Duane anomaly-myopathy-scoliosis syndrome"
* https://www.orpha.net#50943 "Keratolytic winter erythema"
* https://www.orpha.net#51636 "WHIM syndrome"
* https://www.orpha.net#52430 "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"
* https://www.orpha.net#52994 "Orbital leiomyoma"
* https://www.orpha.net#53351 "X-linked dystonia-parkinsonism"
* https://www.orpha.net#53372 "Hereditary geniospasm"
* https://www.orpha.net#53540 "Goldmann-Favre syndrome"
* https://www.orpha.net#54272 "Hepatocellular adenoma"
* https://www.orpha.net#54370 "Primary membranoproliferative glomerulonephritis"
* https://www.orpha.net#57196 "Medial condensing osteitis of the clavicle"
* https://www.orpha.net#59315 "Rhombencephalosynapsis"
* https://www.orpha.net#64280 "Childhood absence epilepsy"
* https://www.orpha.net#64748 "Dejerine-Sottas syndrome"
* https://www.orpha.net#65287 "Beta-ureidopropionase deficiency"
* https://www.orpha.net#66518 "Short fifth metacarpals-insulin resistance syndrome"
* https://www.orpha.net#66661 "Mast cell sarcoma"
* https://www.orpha.net#67036 "Autosomal dominant optic atrophy and cataract"
* https://www.orpha.net#67044 "Thrombocytopenia with congenital dyserythropoietic anemia"
* https://www.orpha.net#67045 "X-linked intellectual disability with isolated growth hormone deficiency"
* https://www.orpha.net#69082 "Odonto-tricho-ungual-digito-palmar syndrome"
* https://www.orpha.net#69737 "Bosley-Salih-Alorainy syndrome"
* https://www.orpha.net#69739 "Athabaskan brainstem dysgenesis syndrome"
* https://www.orpha.net#70587 "Infant acute respiratory distress syndrome"
* https://www.orpha.net#73256 "Central neurocytoma"
* https://www.orpha.net#75382 "Oguchi disease"
* https://www.orpha.net#75496 "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"
* https://www.orpha.net#75497 "X-linked Ehlers-Danlos syndrome"
* https://www.orpha.net#75564 "Acquired idiopathic sideroblastic anemia"
* https://www.orpha.net#75858 "MORM syndrome"
* https://www.orpha.net#79085 "AKT2-related familial partial lipodystrophy"
* https://www.orpha.net#79098 "Sympathetic ophthalmia"
* https://www.orpha.net#79100 "Atrophoderma vermiculata"
* https://www.orpha.net#79139 "Japanese encephalitis"
* https://www.orpha.net#79150 "Linear and whorled nevoid hypermelanosis"
* https://www.orpha.net#79234 "Crigler-Najjar syndrome type 1"
* https://www.orpha.net#79276 "Acute intermittent porphyria"
* https://www.orpha.net#79281 "Alpha-N-acetylgalactosaminidase deficiency type 3"
* https://www.orpha.net#79330 "MOGS-CDG"
* https://www.orpha.net#79345 "Brachytelephalangic chondrodysplasia punctata"
* https://www.orpha.net#79346 "Chondrodysplasia punctata, tibial-metacarpal type"
* https://www.orpha.net#79347 "Chondrodysplasia punctata, Toriello type"
* https://www.orpha.net#79401 "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"
* https://www.orpha.net#79410 "Localized dystrophic epidermolysis bullosa, pretibial form"
* https://www.orpha.net#79430 "Hermansky-Pudlak syndrome"
* https://www.orpha.net#79468 "Acanthokeratolytic verrucous nevus"
* https://www.orpha.net#79479 "Pemphigus vegetans"
* https://www.orpha.net#79480 "Pemphigus erythematosus"
* https://www.orpha.net#79490 "Microcystic lymphatic malformation"
* https://www.orpha.net#79500 "DOORS syndrome"
* https://www.orpha.net#79503 "Ichthyosis hystrix of Curth-Macklin"
* https://www.orpha.net#79507 "Hypotonia-failure to thrive-microcephaly syndrome"
* https://www.orpha.net#83311 "Rocky Mountain spotted fever"
* https://www.orpha.net#83312 "Rickettsialpox"
* https://www.orpha.net#83465 "Narcolepsy type 2"
* https://www.orpha.net#83617 "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome"
* https://www.orpha.net#84064 "Syndromic diarrhea"
* https://www.orpha.net#84093 "Hereditary thermosensitive neuropathy"
* https://www.orpha.net#85110 "Familial encephalopathy with neuroserpin inclusion bodies"
* https://www.orpha.net#85128 "Bothnia retinal dystrophy"
* https://www.orpha.net#85167 "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"
* https://www.orpha.net#85170 "Mesomelic dysplasia, Savarirayan type"
* https://www.orpha.net#85182 "Diaphyseal medullary stenosis-bone malignancy syndrome"
* https://www.orpha.net#85285 "X-linked intellectual disability, Schimke type"
* https://www.orpha.net#85288 "X-linked intellectual disability, Stocco Dos Santos type"
* https://www.orpha.net#85290 "X-linked intellectual disability, Wilson type"
* https://www.orpha.net#85293 "X-linked intellectual disability, Cabezas type"
* https://www.orpha.net#85297 "X-linked spinocerebellar ataxia type 3"
* https://www.orpha.net#85324 "X-linked intellectual disability, Shrimpton type"
* https://www.orpha.net#85435 "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis"
* https://www.orpha.net#86861 "Non-amyloid monoclonal immunoglobulin deposition disease"
* https://www.orpha.net#86869 "Lymphomatoid granulomatosis"
* https://www.orpha.net#86882 "Hepatosplenic T-cell lymphoma"
* https://www.orpha.net#86900 "Interdigitating dendritic cell sarcoma"
* https://www.orpha.net#86911 "Epilepsy with myoclonic absences"
* https://www.orpha.net#86923 "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type"
* https://www.orpha.net#88660 "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor"
* https://www.orpha.net#89937 "Autosomal dominant hypophosphatemic rickets"
* https://www.orpha.net#90000 "Erythema elevatum diutinum"
* https://www.orpha.net#90033 "Autoimmune hemolytic anemia, warm type"
* https://www.orpha.net#90039 "Hemoglobin D disease"
* https://www.orpha.net#90052 "Recurrent hepatitis C virus induced liver disease in liver transplant recipients"
* https://www.orpha.net#90159 "Panniculitis-induced localized lipodystrophy"
* https://www.orpha.net#90280 "Chilblain lupus"
* https://www.orpha.net#90322 "Cockayne syndrome type 2"
* https://www.orpha.net#90368 "Hypotrichosis simplex of the scalp"
* https://www.orpha.net#90791 "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"
* https://www.orpha.net#90795 "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"
* https://www.orpha.net#91349 "Non-functioning pituitary adenoma"
* https://www.orpha.net#91387 "Familial thoracic aortic aneurysm and aortic dissection"
* https://www.orpha.net#91413 "Congenital Horner syndrome"
* https://www.orpha.net#93111 "HNF1B-related autosomal dominant tubulointerstitial kidney disease"
* https://www.orpha.net#93126 "Pauci-immune glomerulonephritis"
* https://www.orpha.net#93177 "Congenital bilateral megacalycosis"
* https://www.orpha.net#93308 "Multiple epiphyseal dysplasia type 1"
* https://www.orpha.net#93311 "Multiple epiphyseal dysplasia type 5"
* https://www.orpha.net#93321 "Radial hemimelia"
* https://www.orpha.net#93324 "Autosomal recessive Kenny-Caffey syndrome"
* https://www.orpha.net#93328 "Autosomal dominant omodysplasia"
* https://www.orpha.net#93335 "Postaxial polydactyly type B"
* https://www.orpha.net#93357 "SPONASTRIME dysplasia"
* https://www.orpha.net#93360 "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"
* https://www.orpha.net#93473 "Hurler syndrome"
* https://www.orpha.net#93554 "Mixed cryoglobulinemia type II"
* https://www.orpha.net#93569 "Polymyalgia rheumatica"
* https://www.orpha.net#93581 "Atypical hemolytic uremic syndrome with anti-factor H antibodies"
* https://www.orpha.net#93599 "Primary hyperoxaluria type 2"
* https://www.orpha.net#93950 "X-linked intellectual disability, Sutherland-Haan type"
* https://www.orpha.net#94065 "15q24 microdeletion syndrome"
* https://www.orpha.net#95427 "Secondary short bowel syndrome"
* https://www.orpha.net#95434 "Autosomal recessive cerebellar ataxia-movement disorder syndrome"
* https://www.orpha.net#95455 "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum"
* https://www.orpha.net#95459 "Congenital tricuspid stenosis"
* https://www.orpha.net#95712 "Thyroid ectopia"
* https://www.orpha.net#95719 "Thyroid hemiagenesis"
* https://www.orpha.net#95720 "Thyroid hypoplasia"
* https://www.orpha.net#96068 "Mosaic trisomy 22"
* https://www.orpha.net#96069 "Distal duplication 1p36"
* https://www.orpha.net#96106 "Distal duplication 16q"
* https://www.orpha.net#96109 "Distal duplication 22q"
* https://www.orpha.net#96125 "Distal deletion 6p"
* https://www.orpha.net#96172 "Ring chromosome 3 syndrome"
* https://www.orpha.net#96175 "Ring chromosome 11 syndrome"
* https://www.orpha.net#96176 "Ring chromosome 13 syndrome"
* https://www.orpha.net#96266 "Leydig cell hypoplasia due to partial LH resistance"
* https://www.orpha.net#97279 "Insulinoma"
* https://www.orpha.net#97353 "Dementia pugilistica"
* https://www.orpha.net#97366 "Multiloculated renal cyst"
* https://www.orpha.net#97369 "Renal tubular dysgenesis of genetic origin"
* https://www.orpha.net#98434 "Hereditary combined deficiency of vitamin K-dependent clotting factors"
* https://www.orpha.net#98756 "Spinocerebellar ataxia type 2"
* https://www.orpha.net#98767 "Spinocerebellar ataxia type 11"
* https://www.orpha.net#98771 "Spinocerebellar ataxia type 18"
* https://www.orpha.net#98773 "Spinocerebellar ataxia type 21"
* https://www.orpha.net#98805 "Primary dystonia, DYT4 type"
* https://www.orpha.net#98806 "Primary dystonia, DYT6 type"
* https://www.orpha.net#98820 "Familial focal epilepsy with variable foci"
* https://www.orpha.net#98824 "Atypical chronic myeloid leukemia"
* https://www.orpha.net#98826 "Refractory anemia"
* https://www.orpha.net#98839 "Intravascular large B-cell lymphoma"
* https://www.orpha.net#98848 "Indolent systemic mastocytosis"
* https://www.orpha.net#98849 "Systemic mastocytosis with associated hematologic neoplasm"
* https://www.orpha.net#98851 "Mast cell leukemia"
* https://www.orpha.net#98885 "Bleeding diathesis due to glycoprotein VI deficiency"
* https://www.orpha.net#98908 "Neutral lipid storage myopathy"
* https://www.orpha.net#98913 "Postsynaptic congenital myasthenic syndromes"
* https://www.orpha.net#98914 "Presynaptic congenital myasthenic syndromes"
* https://www.orpha.net#98916 "Acute inflammatory demyelinating polyradiculoneuropathy"
* https://www.orpha.net#98933 "Multiple system atrophy, parkinsonian type"
* https://www.orpha.net#98947 "Coloboma of optic disc"
* https://www.orpha.net#98957 "Gelatinous drop-like corneal dystrophy"
* https://www.orpha.net#98961 "Reis-Bücklers corneal dystrophy"
* https://www.orpha.net#98963 "Granular corneal dystrophy type II"
* https://www.orpha.net#98978 "Axenfeld anomaly"
* https://www.orpha.net#99000 "Adult-onset foveomacular vitelliform dystrophy"
* https://www.orpha.net#99013 "Spastic paraplegia type 7"
* https://www.orpha.net#99015 "Spastic paraplegia type 2"
* https://www.orpha.net#99050 "Abnormal origin of right or left pulmonary artery from the aorta"
* https://www.orpha.net#99052 "Discrete fibromuscular subaortic stenosis"
* https://www.orpha.net#99061 "Accessory mitral valve tissue"
* https://www.orpha.net#99077 "Kommerell diverticulum"
* https://www.orpha.net#99084 "Peripheral pulmonary stenosis"
* https://www.orpha.net#99104 "Atrial septal defect, coronary sinus type"
* https://www.orpha.net#99129 "Congenital complete agenesis of pericardium"
* https://www.orpha.net#99141 "Lymphedema-posterior choanal atresia syndrome"
* https://www.orpha.net#99147 "Acquired von Willebrand syndrome"
* https://www.orpha.net#99171 "Isolated congenital ectropion"
* https://www.orpha.net#99429 "Complete androgen insensitivity syndrome"
* https://www.orpha.net#99718 "Leber plus disease"
* https://www.orpha.net#99734 "Myotonia fluctuans"
* https://www.orpha.net#99750 "Atypical progressive supranuclear palsy syndrome"
* https://www.orpha.net#99812 "LIG4 syndrome"
* https://www.orpha.net#99849 "Glycogen storage disease due to muscle beta-enolase deficiency"
* https://www.orpha.net#99889 "Cushing syndrome due to ectopic ACTH secretion"
* https://www.orpha.net#99908 "Pigeon-breeder lung disease"
* https://www.orpha.net#99917 "Theca steroid-producing cell malignant tumor of ovary, not further specified"
* https://www.orpha.net#99930 "Secondary pulmonary hemosiderosis"
* https://www.orpha.net#99936 "Autosomal dominant Charcot-Marie-Tooth disease type 2B"
* https://www.orpha.net#99938 "Autosomal dominant Charcot-Marie-Tooth disease type 2D"
* https://www.orpha.net#99990 "Brill-Zinsser disease"
* https://www.orpha.net#100015 "Lissencephaly with cerebellar hypoplasia type E"
* https://www.orpha.net#100033 "Hypomaturation amelogenesis imperfecta"
* https://www.orpha.net#100035 "Solitary necrotic nodule of the liver"
* https://www.orpha.net#100050 "Hereditary angioedema type 1"
* https://www.orpha.net#100073 "Neurogenic thoracic outlet syndrome"
* https://www.orpha.net#100973 "FRAXE intellectual disability"
* https://www.orpha.net#100991 "Autosomal dominant spastic paraplegia type 10"
* https://www.orpha.net#100998 "Autosomal dominant spastic paraplegia type 17"
* https://www.orpha.net#101010 "Autosomal spastic paraplegia type 30"
* https://www.orpha.net#101016 "Romano-Ward syndrome"
* https://www.orpha.net#101082 "Charcot-Marie-Tooth disease type 1B"
* https://www.orpha.net#101084 "Charcot-Marie-Tooth disease type 1D"
* https://www.orpha.net#101089 "Hyper-IgM syndrome type 2"
* https://www.orpha.net#101091 "Hyper-IgM syndrome type 4"
* https://www.orpha.net#101112 "Spinocerebellar ataxia type 26"
* https://www.orpha.net#103907 "Chronic diarrhea due to glucoamylase deficiency"
* https://www.orpha.net#104075 "Adenocarcinoma of the small intestine"
* https://www.orpha.net#137596 "Neurotrophic keratopathy"
* https://www.orpha.net#137617 "Nephrogenic systemic fibrosis"
* https://www.orpha.net#137678 "Spondyloepiphyseal dysplasia with metatarsal shortening"
* https://www.orpha.net#139411 "Carney triad"
* https://www.orpha.net#139417 "Acute transverse myelitis"
* https://www.orpha.net#139426 "Perioral myoclonia with absences"
* https://www.orpha.net#139557 "X-linked distal spinal muscular atrophy type 3"
* https://www.orpha.net#139589 "Distal hereditary motor neuropathy type 7"
* https://www.orpha.net#141074 "External auditory canal aplasia/hypoplasia"
* https://www.orpha.net#141199 "Cerebrofacial arteriovenous metameric syndrome type 3"
* https://www.orpha.net#141242 "Paramedian nasal cleft"
* https://www.orpha.net#141261 "Tessier number 5 facial cleft"
* https://www.orpha.net#157719 "Juvenile or adult CACH syndrome"
* https://www.orpha.net#157791 "Epithelioid hemangioendothelioma"
* https://www.orpha.net#157801 "Mesoaxial synostotic syndactyly with phalangeal reduction"
* https://www.orpha.net#157820 "Cold-induced sweating syndrome"
* https://www.orpha.net#157835 "Paroxysmal hemicrania"
* https://www.orpha.net#157850 "Pantothenate kinase-associated neurodegeneration"
* https://www.orpha.net#157941 "Huntington disease-like 1"
* https://www.orpha.net#157991 "Generalized eruptive histiocytosis"
* https://www.orpha.net#158025 "Hereditary progressive mucinous histiocytosis"
* https://www.orpha.net#158769 "Plaque-form urticaria pigmentosa"
* https://www.orpha.net#158772 "Nodular urticaria pigmentosa"
* https://www.orpha.net#163708 "Cryptogenic late-onset epileptic spasms"
* https://www.orpha.net#163717 "Benign familial mesial temporal lobe epilepsy"
* https://www.orpha.net#163727 "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"
* https://www.orpha.net#163937 "X-linked intellectual disability, Najm type"
* https://www.orpha.net#163956 "X-linked intellectual disability, Nascimento type"
* https://www.orpha.net#163976 "X-linked intellectual disability, Van Esch type"
* https://www.orpha.net#165958 "Cavitary myiasis"
* https://www.orpha.net#166035 "Brachydactyly-short stature-retinitis pigmentosa syndrome"
* https://www.orpha.net#166090 "Von Willebrand disease type 2M"
* https://www.orpha.net#166299 "Benign partial epilepsy of infancy with complex partial seizures"
* https://www.orpha.net#166421 "Orgasm-induced seizures"
* https://www.orpha.net#166424 "Thinking seizures"
* https://www.orpha.net#168549 "Axial spondylometaphyseal dysplasia"
* https://www.orpha.net#168558 "46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency"
* https://www.orpha.net#168583 "Hereditary North American Indian childhood cirrhosis"
* https://www.orpha.net#168624 "Familial scaphocephaly syndrome, McGillivray type"
* https://www.orpha.net#169082 "Combined immunodeficiency due to CD3gamma deficiency"
* https://www.orpha.net#169147 "Immunodeficiency due to a classical component pathway complement deficiency"
* https://www.orpha.net#169150 "Immunodeficiency due to a late component of complement deficiency"
* https://www.orpha.net#171622 "Autosomal recessive spastic paraplegia type 32"
* https://www.orpha.net#171629 "Autosomal recessive spastic paraplegia type 35"
* https://www.orpha.net#171684 "Idiopathic bilateral vestibulopathy"
* https://www.orpha.net#171700 "Diffuse panbronchiolitis"
* https://www.orpha.net#171848 "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"
* https://www.orpha.net#171876 "Generalized pseudohypoaldosteronism type 1"
* https://www.orpha.net#178320 "Acute lung injury"
* https://www.orpha.net#178377 "Osteosclerosis-developmental delay-craniosynostosis syndrome"
* https://www.orpha.net#178389 "Osteopetrosis-hypogammaglobulinemia syndrome"
* https://www.orpha.net#178464 "Hereditary myopathy with early respiratory failure"
* https://www.orpha.net#178481 "Intestinal botulism"
* https://www.orpha.net#180079 "Pseudounicornuate uterus"
* https://www.orpha.net#180086 "Didelphys uterus"
* https://www.orpha.net#180247 "Vaginal carcinoma"
* https://www.orpha.net#183707 "Neutrophil immunodeficiency syndrome"
* https://www.orpha.net#199267 "Infantile digital fibromatosis"
* https://www.orpha.net#199296 "Congenital isolated ACTH deficiency"
* https://www.orpha.net#199315 "Familial clubfoot with or without associated lower limb anomalies"
* https://www.orpha.net#199332 "Endocrine-cerebro-osteodysplasia syndrome"
* https://www.orpha.net#199627 "Atypical autism"
* https://www.orpha.net#200418 "Immunodeficiency with factor I anomaly"
* https://www.orpha.net#206470 "Cystadenoma of childhood"
* https://www.orpha.net#206492 "Vulvovaginal rhabdomyosarcoma"
* https://www.orpha.net#206564 "POMGNT1-related limb-girdle muscular dystrophy R15"
* https://www.orpha.net#206580 "Autosomal recessive lower motor neuron disease with childhood onset"
* https://www.orpha.net#206991 "Viral myositis"
* https://www.orpha.net#207000 "Fungal myositis"
* https://www.orpha.net#209335 "Autosomal dominant adult-onset proximal spinal muscular atrophy"
* https://www.orpha.net#209956 "Idiopathic uveal effusion syndrome"
* https://www.orpha.net#210128 "Urocanic aciduria"
* https://www.orpha.net#210136 "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome"
* https://www.orpha.net#210571 "Dystonia 16"
* https://www.orpha.net#210576 "Congenital temporomandibular joint ankylosis"
* https://www.orpha.net#213751 "Malignant germ cell tumor of the corpus uteri"
* https://www.orpha.net#213833 "Glassy cell carcinoma of the cervix uteri"
* https://www.orpha.net#213837 "Malignant germ cell tumor of the cervix uteri"
* https://www.orpha.net#216694 "Congenitally corrected transposition of the great arteries"
* https://www.orpha.net#216796 "Osteogenesis imperfecta type 1"
* https://www.orpha.net#217012 "Spinocerebellar ataxia type 31"
* https://www.orpha.net#217563 "Neonatal acute respiratory distress due to SP-B deficiency"
* https://www.orpha.net#220465 "Laron syndrome with immunodeficiency"
* https://www.orpha.net#220497 "Joubert syndrome with renal defect"
* https://www.orpha.net#221078 "Combined hyperactive dysfunction syndrome of the cranial nerves"
* https://www.orpha.net#221139 "Combined immunodeficiency with facio-oculo-skeletal anomalies"
* https://www.orpha.net#221145 "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"
* https://www.orpha.net#228264 "Papular elastorrhexis"
* https://www.orpha.net#228285 "Acquired cutis laxa"
* https://www.orpha.net#228305 "Carnitine palmitoyl transferase II deficiency, severe infantile form"
* https://www.orpha.net#228346 "CLN3 disease"
* https://www.orpha.net#228360 "CLN5 disease"
* https://www.orpha.net#231031 "Erythema palmare hereditarium"
* https://www.orpha.net#231111 "Drug-induced lupus erythematosus"
* https://www.orpha.net#231144 "Silver-Russell syndrome due to 11p15 microduplication"
* https://www.orpha.net#231178 "Usher syndrome type 2"
* https://www.orpha.net#231237 "Delta-beta-thalassemia"
* https://www.orpha.net#231242 "Hemoglobin C-beta-thalassemia syndrome"
* https://www.orpha.net#231393 "Beta-thalassemia-X-linked thrombocytopenia syndrome"
* https://www.orpha.net#231401 "Alpha-thalassemia-myelodysplastic syndrome"
* https://www.orpha.net#231426 "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome"
* https://www.orpha.net#231720 "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"
* https://www.orpha.net#238446 "15q11q13 microduplication syndrome"
* https://www.orpha.net#247511 "Autosomal dominant secondary polycythemia"
* https://www.orpha.net#247573 "Late-onset citrullinemia type I"
* https://www.orpha.net#247698 "Multiple endocrine neoplasia type 2A"
* https://www.orpha.net#247775 "Mayer-Rokitansky-Küster-Hauser syndrome type 1"
* https://www.orpha.net#247868 "NLRP12-associated hereditary periodic fever syndrome"
* https://www.orpha.net#248340 "Isolated delta-storage pool disease"
* https://www.orpha.net#250932 "Autosomal dominant optic atrophy and peripheral neuropathy"
* https://www.orpha.net#250994 "1q21.1 microduplication syndrome"
* https://www.orpha.net#251043 "Ring chromosome 5 syndrome"
* https://www.orpha.net#251282 "Autosomal dominant spastic ataxia type 1"
* https://www.orpha.net#251328 "Unclassified vasculitis"
* https://www.orpha.net#251359 "Sickle cell-beta-thalassemia disease syndrome"
* https://www.orpha.net#251576 "Gliosarcoma"
* https://www.orpha.net#251656 "Oligoastrocytoma"
* https://www.orpha.net#251663 "Anaplastic oligoastrocytoma"
* https://www.orpha.net#251949 "Ganglioglioma"
* https://www.orpha.net#251962 "Papillary glioneuronal tumor"
* https://www.orpha.net#252128 "Malignant peripheral nerve sheath tumor with perineurial differentiation"
* https://www.orpha.net#252212 "Malignant triton tumor"
* https://www.orpha.net#254361 "Plectin-related limb-girdle muscular dystrophy R17"
* https://www.orpha.net#254395 "Actinic lichen planus"
* https://www.orpha.net#254463 "Lichen planus pigmentosus"
* https://www.orpha.net#254851 "Mitochondrial DNA-related dystonia"
* https://www.orpha.net#254857 "Lethal infantile mitochondrial myopathy"
* https://www.orpha.net#254913 "Isolated ATP synthase deficiency"
* https://www.orpha.net#260305 "Autosomal recessive sideroblastic anemia"
* https://www.orpha.net#261204 "16p11.2p12.2 microduplication syndrome"
* https://www.orpha.net#261295 "20p12.3 microdeletion syndrome"
* https://www.orpha.net#261318 "Trisomy 20p"
* https://www.orpha.net#261330 "Distal 22q11.2 microdeletion syndrome"
* https://www.orpha.net#261524 "Paternal uniparental disomy of chromosome X"
* https://www.orpha.net#263317 "Thymoma type B"
* https://www.orpha.net#263508 "COG1-CDG"
* https://www.orpha.net#263662 "Familial multiple meningioma"
* https://www.orpha.net#268316 "Complication in hemodialysis"
* https://www.orpha.net#268366 "Closed iniencephaly"
* https://www.orpha.net#268920 "Isolated megalencephaly"
* https://www.orpha.net#268987 "Isolated focal cortical dysplasia type Ic"
* https://www.orpha.net#268994 "Isolated focal cortical dysplasia type II"
* https://www.orpha.net#275555 "Preeclampsia"
* https://www.orpha.net#276241 "Machado-Joseph disease type 2"
* https://www.orpha.net#279922 "Infectious anterior uveitis"
* https://www.orpha.net#280200 "Microform holoprosencephaly"
* https://www.orpha.net#280827 "Congenital pulmonary airway malformation type 0"
* https://www.orpha.net#280840 "Congenital pulmonary airway malformation type 2"
* https://www.orpha.net#280854 "Congenital pulmonary airway malformation type 4"
* https://www.orpha.net#284169 "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion"
* https://www.orpha.net#284227 "TEMPI syndrome"
* https://www.orpha.net#284232 "Autosomal dominant Charcot-Marie-Tooth disease type 2O"
* https://www.orpha.net#284247 "Familial retinal arterial macroaneurysm"
* https://www.orpha.net#284343 "DICER1 tumor-predisposition syndrome"
* https://www.orpha.net#284435 "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"
* https://www.orpha.net#284984 "Aneurysm-osteoarthritis syndrome"
* https://www.orpha.net#289266 "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"
* https://www.orpha.net#289380 "Myosclerosis"
* https://www.orpha.net#289494 "4H leukodystrophy"
* https://www.orpha.net#289586 "Exfoliative ichthyosis"
* https://www.orpha.net#289846 "Glutathione synthetase deficiency with 5-oxoprolinuria"
* https://www.orpha.net#289857 "Neonatal glycine encephalopathy"
* https://www.orpha.net#293381 "Epithelial recurrent erosion dystrophy"
* https://www.orpha.net#293603 "Congenital hereditary endothelial dystrophy type II"
* https://www.orpha.net#293987 "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome"
* https://www.orpha.net#294973 "Humeral agenesis/hypoplasia"
* https://www.orpha.net#295026 "Congenital pseudoarthrosis of the ulna"
* https://www.orpha.net#295239 "Macrodactyly of fingers, unilateral"
* https://www.orpha.net#300284 "Connective tissue disorder due to lysyl hydroxylase-3 deficiency"
* https://www.orpha.net#300385 "Pituitary carcinoma"
* https://www.orpha.net#300878 "Hairy cell leukemia variant"
* https://www.orpha.net#300895 "ALK-positive anaplastic large cell lymphoma"
* https://www.orpha.net#300903 "ALK-negative anaplastic large cell lymphoma"
* https://www.orpha.net#306542 "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome"
* https://www.orpha.net#306547 "Porencephaly-microcephaly-bilateral congenital cataract syndrome"
* https://www.orpha.net#306644 "Complication after organ transplantation"
* https://www.orpha.net#306674 "Kufor-Rakeb syndrome"
* https://www.orpha.net#308013 "Focal acral hyperkeratosis"
* https://www.orpha.net#308380 "Methylcobalamin deficiency type cblDv1"
* https://www.orpha.net#308425 "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"
* https://www.orpha.net#308473 "Erythrocyte galactose epimerase deficiency"
* https://www.orpha.net#308670 "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"
* https://www.orpha.net#309324 "Free sialic acid storage disease, infantile form"
* https://www.orpha.net#309789 "Rhizomelic chondrodysplasia punctata type 1"
* https://www.orpha.net#313800 "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"
* https://www.orpha.net#313838 "Coats plus syndrome"
* https://www.orpha.net#313947 "2q23.1 microduplication syndrome"
* https://www.orpha.net#314389 "Xq12-q13.3 duplication syndrome"
* https://www.orpha.net#314459 "Pseudo-Meigs syndrome"
* https://www.orpha.net#314655 "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"
* https://www.orpha.net#314667 "TMEM165-CDG"
* https://www.orpha.net#314701 "Primary systemic amyloidosis"
* https://www.orpha.net#314950 "Primary hypereosinophilic syndrome"
* https://www.orpha.net#315306 "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"
* https://www.orpha.net#319247 "Hantavirus pulmonary syndrome"
* https://www.orpha.net#319251 "Rift valley fever"
* https://www.orpha.net#319322 "Mucinous tubular and spindle cell renal carcinoma"
* https://www.orpha.net#319465 "Inherited acute myeloid leukemia"
* https://www.orpha.net#319569 "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
* https://www.orpha.net#320370 "Autosomal recessive spastic paraplegia type 43"
* https://www.orpha.net#324381 "Hereditary inclusion body myopathy type 4"
* https://www.orpha.net#324530 "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"
* https://www.orpha.net#324535 "Combined oxidative phosphorylation defect type 11"
* https://www.orpha.net#324540 "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome"
* https://www.orpha.net#324569 "Pontocerebellar hypoplasia type 8"
* https://www.orpha.net#324575 "Hyperinsulinism due to HNF1A deficiency"
* https://www.orpha.net#324611 "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"
* https://www.orpha.net#324713 "ABeta amyloidosis, Italian type"
* https://www.orpha.net#329191 "Tall stature-long halluces-multiple extra-epiphyses syndrome"
* https://www.orpha.net#329211 "Autosomal dominant neovascular inflammatory vitreoretinopathy"
* https://www.orpha.net#329228 "Microcephalic primordial dwarfism due to ZNF335 deficiency"
* https://www.orpha.net#329284 "Beta-propeller protein-associated neurodegeneration"
* https://www.orpha.net#329319 "Thrombocythemia with distal limb defects"
* https://www.orpha.net#329478 "Adult-onset distal myopathy due to VCP mutation"
* https://www.orpha.net#329481 "Lipoprotein glomerulopathy"
* https://www.orpha.net#329967 "Intermittent hydrarthrosis"
* https://www.orpha.net#330012 "High altitude pulmonary edema"
* https://www.orpha.net#330029 "Hypotrichosis-deafness syndrome"
* https://www.orpha.net#331176 "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"
* https://www.orpha.net#352333 "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"
* https://www.orpha.net#352665 "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion"
* https://www.orpha.net#352737 "Temperature-sensitive oculocutaneous albinism type 1"
* https://www.orpha.net#353298 "Roifman syndrome"
* https://www.orpha.net#356996 "ANK3-related intellectual disability-sleep disturbance syndrome"
* https://www.orpha.net#357027 "Hereditary retinoblastoma"
* https://www.orpha.net#363400 "Severe neurodegenerative syndrome with lipodystrophy"
* https://www.orpha.net#363444 "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"
* https://www.orpha.net#363523 "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"
* https://www.orpha.net#363659 "20q11.2 microduplication syndrome"
* https://www.orpha.net#363694 "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"
* https://www.orpha.net#363700 "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"
* https://www.orpha.net#369847 "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"
* https://www.orpha.net#369881 "2p21 microdeletion syndrome without cystinuria"
* https://www.orpha.net#369920 "Pontocerebellar hypoplasia type 9"
* https://www.orpha.net#369979 "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"
* https://www.orpha.net#370010 "Intellectual disability-facial dysmorphism-hand anomalies syndrome"
* https://www.orpha.net#370076 "Fetal carbamazepine syndrome"
* https://www.orpha.net#370131 "White platelet syndrome"
* https://www.orpha.net#371364 "Hypotonia-speech impairment-severe cognitive delay syndrome"
* https://www.orpha.net#391351 "SURF1-related Charcot-Marie-Tooth disease type 4"
* https://www.orpha.net#391665 "Homozygous familial hypercholesterolemia"
* https://www.orpha.net#397941 "MAN1B1-CDG"
* https://www.orpha.net#397951 "Microcephaly-thin corpus callosum-intellectual disability syndrome"
* https://www.orpha.net#397973 "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome"
* https://www.orpha.net#398156 "Oculoauriculofrontonasal syndrome"
* https://www.orpha.net#401800 "Autosomal recessive spastic paraplegia type 60"
* https://www.orpha.net#401830 "Autosomal recessive spastic paraplegia type 69"
* https://www.orpha.net#401973 "MEND syndrome"
* https://www.orpha.net#402017 "Acute myeloid leukemia with t(9;11)(p22;q23)"
* https://www.orpha.net#404511 "Clear cell papillary renal cell carcinoma"
* https://www.orpha.net#411543 "Severe phosphoribosylpyrophosphate synthetase superactivity"
* https://www.orpha.net#411712 "Maternal riboflavin deficiency"
* https://www.orpha.net#412022 "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"
* https://www.orpha.net#420485 "Cranio-cervical dystonia with laryngeal and upper-limb involvement"
* https://www.orpha.net#420492 "Adult-onset cervical dystonia, DYT23 type"
* https://www.orpha.net#420584 "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"
* https://www.orpha.net#420741 "RIDDLE syndrome"
* https://www.orpha.net#423275 "Spinocerebellar ataxia type 40"
* https://www.orpha.net#423470 "Mucolipidosis type III gamma"
* https://www.orpha.net#431149 "Combined immunodeficiency due to OX40 deficiency"
* https://www.orpha.net#435329 "Familial ossifying fibroma"
* https://www.orpha.net#435438 "Progressive myoclonic epilepsy type 7"
* https://www.orpha.net#435930 "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"
* https://www.orpha.net#435934 "COG2-CDG"
* https://www.orpha.net#436003 "Contractures-developmental delay-Pierre Robin syndrome"
* https://www.orpha.net#436151 "Intellectual disability-expressive aphasia-facial dysmorphism syndrome"
* https://www.orpha.net#438075 "Ketoacidosis due to monocarboxylate transporter-1 deficiency"
* https://www.orpha.net#439175 "Pediatric arterial ischemic stroke"
* https://www.orpha.net#439202 "Non-recovering obstetric brachial plexus lesion"
* https://www.orpha.net#439729 "Cutaneous polyarteritis nodosa"
* https://www.orpha.net#439755 "Single-organ polyarteritis nodosa"
* https://www.orpha.net#439897 "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"
* https://www.orpha.net#442835 "Non-specific early-onset epileptic encephalopathy"
* https://www.orpha.net#443227 "Paratyphoid fever"
* https://www.orpha.net#444069 "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"
* https://www.orpha.net#444099 "Autosomal dominant spastic paraplegia type 73"
* https://www.orpha.net#444490 "Familial chylomicronemia syndrome"
* https://www.orpha.net#447954 "Combined oxidative phosphorylation defect type 25"
* https://www.orpha.net#447980 "19p13.3 microduplication syndrome"
* https://www.orpha.net#451612 "Familial congenital nasolacrimal duct obstruction"
* https://www.orpha.net#453533 "Polyendocrine-polyneuropathy syndrome"
* https://www.orpha.net#454745 "Kuru"
* https://www.orpha.net#538 "Lymphangioleiomyomatosis"
* https://www.orpha.net#633 "Laron syndrome"
* https://www.orpha.net#681 "Hypokalemic periodic paralysis"
* https://www.orpha.net#615938 "Spastic paraparesis-cataracts-speech delay syndrome"
* https://www.orpha.net#647916 "Conjoined twins"
* https://www.orpha.net#957 "Acropectorovertebral dysplasia"
* https://www.orpha.net#2058 "Fryns-Smeets-Thiry syndrome"
* https://www.orpha.net#2665 "Congenital mesoblastic nephroma"
* https://www.orpha.net#49566 "Acquired purpura fulminans"
* https://www.orpha.net#168615 "Hereditary persistence of alpha-fetoprotein"
* https://www.orpha.net#178355 "Smith-McCort dysplasia"
* https://www.orpha.net#309025 "Mevalonate kinase deficiency"
* https://www.orpha.net#329918 "C3 glomerulopathy"
* https://www.orpha.net#370088 "Acute infantile liver failure-multisystemic involvement syndrome"
* https://www.orpha.net#370943 "Autism spectrum disorder-epilepsy-arthrogryposis syndrome"
* https://www.orpha.net#401862 "Lipoyl transferase 1 deficiency"
* https://www.orpha.net#480701 "Facial diplegia with paresthesias"
* https://www.orpha.net#488650 "Distal myopathy, Tateyama type"
* https://www.orpha.net#530849 "Familial apolipoprotein A5 deficiency"
* https://www.orpha.net#537072 "PLG-related hereditary angioedema with normal C1Inh"
* https://www.orpha.net#555905 "IgA pemphigus"
* https://www.orpha.net#227 "Diphallia"
* https://www.orpha.net#684 "Paramyotonia congenita of Von Eulenburg"
* https://www.orpha.net#645626 "Adermatopathic dermatomyositis"
* https://www.orpha.net#2983 "Difference of sex development-intellectual disability syndrome"
* https://www.orpha.net#3189 "Congenital pulmonary valvar stenosis"
* https://www.orpha.net#3363 "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"
* https://www.orpha.net#93616 "Hemoglobin H disease"
* https://www.orpha.net#94068 "Spondyloepiphyseal dysplasia congenita"
* https://www.orpha.net#97363 "Unilateral multicystic dysplastic kidney"
* https://www.orpha.net#98995 "Early-onset zonular cataract"
* https://www.orpha.net#162526 "Isolated congenital auditory ossicle malformation"
* https://www.orpha.net#269203 "Isolated cerebellar vermis agenesis"
* https://www.orpha.net#276148 "Benign epithelial tumor of salivary glands"
* https://www.orpha.net#284400 "Small cell carcinoma of the bladder"
* https://www.orpha.net#309796 "Rhizomelic chondrodysplasia punctata type 2"
* https://www.orpha.net#439224 "ALECT2 amyloidosis"
* https://www.orpha.net#451607 "Cutaneous pseudolymphoma"
* https://www.orpha.net#673 "Malaria"
* https://www.orpha.net#1501 "Adrenocortical carcinoma"
* https://www.orpha.net#1910 "Fetal iodine syndrome"
* https://www.orpha.net#2703 "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome"
* https://www.orpha.net#99901 "Acyl-CoA dehydrogenase 9 deficiency"
* https://www.orpha.net#99976 "Adenocarcinoma of the esophagus"
* https://www.orpha.net#141152 "Isolated congenital hypoglossia/aglossia"
* https://www.orpha.net#209932 "Cone dystrophy with supernormal rod response"
* https://www.orpha.net#210122 "Congenital alveolar capillary dysplasia"
* https://www.orpha.net#300888 "Diffuse large B-cell lymphoma with chronic inflammation"
* https://www.orpha.net#324632 "Hendra virus infection"
* https://www.orpha.net#420402 "Semicircular canal dehiscence syndrome"
* https://www.orpha.net#458798 "Spinocerebellar ataxia type 41"
* https://www.orpha.net#505652 "CDKL5-deficiency disorder"
* https://www.orpha.net#2151 "Hirschsprung disease-ganglioneuroblastoma syndrome"
* https://www.orpha.net#2357 "Bronchogenic cyst"
* https://www.orpha.net#54247 "Posterior cortical atrophy"
* https://www.orpha.net#98807 "Primary dystonia, DYT13 type"
* https://www.orpha.net#139552 "Distal hereditary motor neuropathy, Jerash type"
* https://www.orpha.net#158766 "Typical urticaria pigmentosa"
* https://www.orpha.net#171866 "Spondyloepimetaphyseal dysplasia, aggrecan type"
* https://www.orpha.net#276145 "Malignant epithelial tumor of salivary glands"
* https://www.orpha.net#329984 "Goblet cell carcinoma"
* https://www.orpha.net#331226 "Susceptibility to infection due to TYK2 deficiency"
* https://www.orpha.net#411501 "Williams-Campbell syndrome"
* https://www.orpha.net#599480 "Acquired hemophilia A"
* https://www.orpha.net#645334 "Retained medullary cord"
* https://www.orpha.net#1008 "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome"
* https://www.orpha.net#73224 "Kidney tubulopathy-dilated cardiomyopathy syndrome"
* https://www.orpha.net#85284 "BRESEK syndrome"
* https://www.orpha.net#93397 "Brachydactyly type A7"
* https://www.orpha.net#95159 "Hepatoerythropoietic porphyria"
* https://www.orpha.net#98844 "Classic Hodgkin lymphoma, mixed cellularity type"
* https://www.orpha.net#206599 "Isolated asymptomatic elevation of creatine phosphokinase"
* https://www.orpha.net#397709 "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"
* https://www.orpha.net#456333 "Hereditary neuroendocrine tumor of small intestine"
* https://www.orpha.net#172 "Progressive familial intrahepatic cholestasis"
* https://www.orpha.net#230 "Dopamine beta-hydroxylase deficiency"
* https://www.orpha.net#573 "Monilethrix"
* https://www.orpha.net#645325 "Isolated filum lipoma"
* https://www.orpha.net#645749 "Congenital esophageal stenosis"
* https://www.orpha.net#2022 "Endocardial fibroelastosis"
* https://www.orpha.net#2353 "Schilbach-Rott syndrome"
* https://www.orpha.net#3472 "Yunis-Varon syndrome"
* https://www.orpha.net#75565 "Tropical endomyocardial fibrosis"
* https://www.orpha.net#79143 "Isolated congenital anonychia"
* https://www.orpha.net#79264 "Juvenile neuronal ceroid lipofuscinosis"
* https://www.orpha.net#79402 "Intermediate generalized junctional epidermolysis bullosa"
* https://www.orpha.net#83452 "Complex regional pain syndrome"
* https://www.orpha.net#83467 "Morvan syndrome"
* https://www.orpha.net#93941 "Laryngotracheoesophageal cleft type 4"
* https://www.orpha.net#141174 "Mandibular arteriovenous malformation"
* https://www.orpha.net#231531 "Hermansky-Pudlak syndrome due to BLOC-1 deficiency"
* https://www.orpha.net#250972 "Polymicrogyria with optic nerve hypoplasia"
* https://www.orpha.net#251618 "Subependymal giant cell astrocytoma"
* https://www.orpha.net#114 "Auriculoosteodysplasia"
* https://www.orpha.net#468699 "SLC39A8-CDG"
* https://www.orpha.net#198 "Occipital horn syndrome"
* https://www.orpha.net#732 "Polymyositis"
* https://www.orpha.net#1252 "Blepharonasofacial malformation syndrome"
* https://www.orpha.net#1681 "Diprosopus"
* https://www.orpha.net#1923 "Methimazole embryofetopathy"
* https://www.orpha.net#2007 "Alar cartilages hypoplasia-coloboma-telecanthus syndrome"
* https://www.orpha.net#2777 "Osteomesopyknosis"
* https://www.orpha.net#51608 "Generalized arterial calcification of infancy"
* https://www.orpha.net#93334 "Postaxial polydactyly type A"
* https://www.orpha.net#97234 "Glycogen storage disease due to phosphoglycerate mutase deficiency"
* https://www.orpha.net#99950 "Charcot-Marie-Tooth disease type 4D"
* https://www.orpha.net#166081 "Von Willebrand disease type 2"
* https://www.orpha.net#168829 "Primary peritoneal carcinoma"
* https://www.orpha.net#319504 "Combined oxidative phosphorylation defect type 8"
* https://www.orpha.net#329802 "5p13 microduplication syndrome"
* https://www.orpha.net#397715 "Joubert syndrome with Jeune asphyxiating thoracic dystrophy"
* https://www.orpha.net#747 "Autoimmune pulmonary alveolar proteinosis"
* https://www.orpha.net#565899 "POMGNT2-related limb-girdle muscular dystrophy R24"
* https://www.orpha.net#1928 "Congenital lobar emphysema"
* https://www.orpha.net#3351 "Trichodental syndrome"
* https://www.orpha.net#88661 "Amelogenesis imperfecta"
* https://www.orpha.net#96185 "Maternal uniparental disomy of chromosome 16"
* https://www.orpha.net#98755 "Spinocerebellar ataxia type 1"
* https://www.orpha.net#103918 "Tropical pancreatitis"
* https://www.orpha.net#137914 "Choanal atresia"
* https://www.orpha.net#171430 "Severe congenital nemaline myopathy"
* https://www.orpha.net#206572 "Overlap myositis"
* https://www.orpha.net#294981 "Congenital absence of both lower leg and foot"
* https://www.orpha.net#295000 "Constriction rings syndrome"
* https://www.orpha.net#295219 "Radio-ulnar synostosis, bilateral"
* https://www.orpha.net#401869 "Multiple mitochondrial dysfunctions syndrome type 1"