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Visitor Guide
A total of 333 diseases have been designated as intractable diseases by the Ministry of Health, Labour and Welfare, and they cover a wide range of fields.
The designated intractable diseases treated by each department at our hospital are summarized in the table below, so we hope you will use this as reference when visiting our hospital.
| Notification number | Designated intractable disease | Disease group | Departments available at our hospital |
|---|---|---|---|
| 1 | Spinal and bulbar muscular atrophy | Neuromuscular diseases |
|
| 2 | Amyotrophic lateral sclerosis | Neuromuscular diseases |
|
| 3 | Spinal muscular atrophy | Neuromuscular diseases | |
| 4 | primary lateral sclerosis | Neuromuscular diseases | |
| 5 | progressive supranuclear palsy | Neuromuscular diseases |
|
| 6 | Parkinson's disease | Neuromuscular diseases |
|
| 7 | Corticobasal degeneration | Neuromuscular diseases |
|
| 8 | Huntington's disease | Neuromuscular diseases | |
| 9 | Neuroacanthocytosis | Neuromuscular diseases | |
| 10 | Charcot-Marie-Tooth disease | Neuromuscular diseases | |
| 11 | myasthenia gravis | Neuromuscular diseases |
|
| 12 | Congenital myasthenic syndrome | Neuromuscular diseases | |
| 13 | Multiple sclerosis/neuromyelitis optica | Neuromuscular diseases | |
| 14 | Chronic inflammatory demyelinating polyneuropathy/multifocal motor neuropathy | Neuromuscular diseases |
|
| 15 | Inclusion body myositis | Neuromuscular diseases | |
| 16 | Crow-Fukase syndrome | Neuromuscular diseases |
|
| 17 | multiple system atrophy | Neuromuscular diseases |
|
| 18 | Spinocerebellar degeneration (excluding multiple system atrophy) | Neuromuscular diseases |
|
| 19 | Lysosomal storage disorders | metabolic disease |
|
| 20 | Adrenoleukodystrophy | metabolic disease | |
| 21 | Mitochondrial diseases | metabolic disease | |
| 22 | Moyamoya disease | Neuromuscular diseases |
|
| 23 | Prion diseases | Neuromuscular diseases | |
| 24 | Subacute sclerosing panencephalitis | Neuromuscular diseases | |
| 25 | Progressive multifocal leukoencephalopathy | Neuromuscular diseases | |
| 26 | HTLV-1-associated myelopathy | Neuromuscular diseases |
|
| 27 | Idiopathic basal ganglia calcification | Neuromuscular diseases | |
| 28 | Systemic amyloidosis | metabolic disease |
|
| 29 | Ullrich's disease | Neuromuscular diseases | |
| 30 | Distal myopathy | Neuromuscular diseases | |
| 31 | Bethlem myopathy | Neuromuscular diseases | |
| 32 | Autophagic vacuolar myopathy | Neuromuscular diseases | |
| 33 | Schwartz-Jampel syndrome | Neuromuscular diseases | |
| 34 | Neurofibromatosis | Skin/connective tissue diseases |
|
| 35 | pemphigus | Skin/connective tissue diseases |
|
| 36 | epidermolysis bullosa | Skin/connective tissue diseases | |
| 37 | Pustular psoriasis (generalized) | Skin/connective tissue diseases |
|
| 38 | Stevens-Johnson syndrome | Skin/connective tissue diseases |
|
| 39 | Toxic epidermal necrolysis | Skin/connective tissue diseases |
|
| 40 | Takayasu arteritis | immune system disease |
|
| 41 | giant cell arteritis | immune system disease |
|
| 42 | Polyarteritis nodosa | immune system disease |
|
| 43 | Microscopic polyangiitis | immune system disease |
|
| 44 | Granulomatosis with polyangiitis | immune system disease |
|
| 45 | Granulomatosis with eosinophilic polyangiitis | immune system disease |
|
| 46 | Malignant rheumatoid arthritis | immune system disease |
|
| 47 | Buerger's disease | immune system disease | |
| 48 | Primary antiphospholipid syndrome | immune system disease |
|
| 49 | Systemic lupus erythematosus | immune system disease |
|
| 50 | Dermatomyositis/Polymyositis | immune system disease |
|
| 51 | Systemic sclerosis | Skin/connective tissue diseases |
|
| 52 | mixed connective tissue disease | immune system disease |
|
| 53 | Sjögren's syndrome | immune system disease |
|
| 54 | Adult Still's disease | immune system disease |
|
| 55 | Relapsing polychondritis | immune system disease |
|
| 56 | Behçet's disease | immune system disease |
|
| 57 | Idiopathic dilated cardiomyopathy | circulatory system disease |
|
| 58 | Hypertrophic cardiomyopathy | circulatory system disease |
|
| 59 | Restrictive cardiomyopathy | circulatory system disease |
|
| 60 | aplastic anemia | Blood system disorders |
|
| 61 | autoimmune hemolytic anemia | Blood system disorders |
|
| 62 | Paroxysmal nocturnal hemoglobinuria | Blood system disorders |
|
| 63 | Idiopathic thrombocytopenic purpura | Blood system disorders |
|
| 64 | Thrombotic thrombocytopenic purpura | Blood system disorders |
|
| 65 | Primary immunodeficiency syndromes | Blood system disorders | |
| 66 | IgA nephropathy | Kidney and urinary system diseases |
|
| 67 | Polycystic kidney disease | Kidney and urinary system diseases |
|
| 68 | Ossification of the ligamentum flavum | Bone and joint diseases |
|
| 69 | Ossification of the posterior longitudinal ligament | Bone and joint diseases |
|
| 70 | Diffuse spinal stenosis | Bone and joint diseases |
|
| 71 | Idiopathic osteonecrosis of the femoral head | Bone and joint diseases |
|
| 72 | Pituitary ADH secretion disorder | Endocrine disorders | |
| 73 | Pituitary TSH hypersecretion | Endocrine disorders | |
| 74 | Pituitary PRL hypersecretion | Endocrine disorders | |
| 75 | Cushing's disease | Endocrine disorders | |
| 76 | Pituitary hypergonadotropinism | Endocrine disorders | |
| 77 | Pituitary hypersecretion of growth hormone | Endocrine disorders | |
| 78 | Anterior pituitary hypofunction | Endocrine disorders | |
| 79 | Familial hypercholesterolemia (homozygous) | metabolic disease | |
| 80 | Thyroid hormone insensitivity | Endocrine disorders | |
| 81 | Congenital adrenal cortical enzyme deficiency | Endocrine disorders | |
| 82 | Congenital adrenal hypoplasia | Endocrine disorders | |
| 83 | Addison's disease | Endocrine disorders | |
| 84 | sarcoidosis | respiratory disease |
|
| 85 | Idiopathic interstitial pneumonia | respiratory disease |
|
| 86 | Pulmonary arterial hypertension | respiratory disease |
|
| 87 | Pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis | respiratory disease |
|
| 88 | Chronic thromboembolic pulmonary hypertension | respiratory disease |
|
| 89 | Lymphangioleiomyomatosis | respiratory disease |
|
| 90 | Retinitis pigmentosa | Visual system disorders |
|
| 91 | Budd-Chiari syndrome | digestive system diseases | |
| 92 | Idiopathic portal hypertension | digestive system diseases | |
| 93 | Primary biliary cholangitis | digestive system diseases |
|
| 94 | Primary sclerosing cholangitis | digestive system diseases |
|
| 95 | autoimmune hepatitis | digestive system diseases |
|
| 96 | Crohn's disease | digestive system diseases |
|
| 97 | ulcerative colitis | digestive system diseases |
|
| 98 | Eosinophilic gastrointestinal disease | digestive system diseases |
|
| 99 | Chronic idiopathic intestinal pseudo-obstruction | digestive system diseases | |
| 100 | Giant bladder short small colon Intestinal dysperistalsis | digestive system diseases | |
| 101 | Intestinal hypoganglionosis | digestive system diseases | |
| 102 | Rubinstein-Taybi syndrome | Syndromes involving changes in chromosomes or genes | |
| 103 | CFC syndrome | Syndromes involving changes in chromosomes or genes | |
| 104 | Costello syndrome | Syndromes involving changes in chromosomes or genes | |
| 105 | CHARGE Syndrome | Syndromes involving changes in chromosomes or genes | |
| 106 | Cryopyrin-associated periodic fever syndrome | immune system disease | |
| 107 | Juvenile idiopathic arthritis (systemic juvenile idiopathic arthritis) | immune system disease |
|
| 108 | TNF receptor-associated periodic syndrome | immune system disease | |
| 109 | Atypical hemolytic uremic syndrome | Kidney and urinary system diseases |
|
| 110 | Blau syndrome | immune system disease | |
| 111 | Congenital myopathy | Neuromuscular diseases | |
| 112 | Marinesco-Sjögren's syndrome | Neuromuscular diseases | |
| 113 | muscular dystrophy | Neuromuscular diseases |
|
| 114 | Nondystrophic myotonia | Neuromuscular diseases | |
| 115 | Hereditary periodic quadriplegia | Neuromuscular diseases | |
| 116 | Atopic myelitis | Neuromuscular diseases | |
| 117 | Syringomyelia | Neuromuscular diseases | |
| 118 | Myelomeningocele | Neuromuscular diseases | |
| 119 | Isaacs syndrome | Neuromuscular diseases | |
| 120 | Hereditary dystonia | Neuromuscular diseases | |
| 121 | Neuroferritinopathy | Neuromuscular diseases | |
| 122 | Superficial hemosiderosis | Neuromuscular diseases | |
| 123 | Autosomal recessive leukoencephalopathy with baldness and spondylosis deformans | Neuromuscular diseases | |
| 124 | Autosomal dominant cerebral arteriopathy with subcortical infarction and leukoencephalopathy | Neuromuscular diseases | |
| 125 | Hereditary diffuse leukoencephalopathy with axonal spheroid formation | Neuromuscular diseases | |
| 126 | Perry syndrome | Neuromuscular diseases | |
| 127 | Frontotemporal lobar degeneration | Neuromuscular diseases | |
| 128 | Bickerstaff brainstem encephalitis | Neuromuscular diseases | |
| 129 | Acute biphasic convulsive encephalopathy | Neuromuscular diseases | |
| 130 | Congenital anhidrosis | Neuromuscular diseases | |
| 131 | Alexander disease | Neuromuscular diseases | |
| 132 | Congenital supranuclear bulbar palsy | Neuromuscular diseases | |
| 133 | Moebius syndrome | Neuromuscular diseases | |
| 134 | Septo-optic dysplasia/Domorsia syndrome | Visual system disorders | |
| 135 | Aicardi syndrome | Neuromuscular diseases | |
| 136 | Hemimegalencephaly | Neuromuscular diseases | |
| 137 | Focal cortical dysplasia | Neuromuscular diseases | |
| 138 | Neuronal migration disorder | Neuromuscular diseases | |
| 139 | Congenital cerebral leukodysplasia | Neuromuscular diseases | |
| 140 | Dravet syndrome | Neuromuscular diseases | |
| 141 | Mesial temporal lobe epilepsy with hippocampal sclerosis | Neuromuscular diseases | |
| 142 | Myoclonic absence epilepsy | Neuromuscular diseases | |
| 143 | Epilepsy with myoclonic atonic seizures | Neuromuscular diseases | |
| 144 | Lennox-Gastaut syndrome | Neuromuscular diseases |
|
| 145 | West syndrome | Neuromuscular diseases | |
| 146 | Otahara Syndrome | Neuromuscular diseases | |
| 147 | Early myoclonic encephalopathy | Neuromuscular diseases | |
| 148 | Infantile epilepsy with migrating focal seizures | Neuromuscular diseases | |
| 149 | Hemiconvulsion, hemiplegia, and epilepsy syndrome | Neuromuscular diseases | |
| 150 | Ring chromosome 20 syndrome | Neuromuscular diseases | |
| 151 | Rasmussen encephalitis | Neuromuscular diseases | |
| 152 | PCDH19-related syndrome | Neuromuscular diseases | |
| 153 | Intractable frequent partial seizures with status epilepticus and acute encephalitis | Neuromuscular diseases | |
| 154 | Epileptic encephalopathy with continuous spike-and-wave patterns during slow wave sleep | Neuromuscular diseases | |
| 155 | Landau-Kleffner syndrome | Neuromuscular diseases | |
| 156 | Rett syndrome | Neuromuscular diseases | |
| 157 | Sturge-Weber syndrome | Neuromuscular diseases |
|
| 158 | tuberous sclerosis | Neuromuscular diseases | |
| 159 | xeroderma pigmentosum | Neuromuscular diseases | |
| 160 | congenital ichthyosis | Skin/connective tissue diseases | |
| 161 | Familial benign chronic pemphigus | Skin/connective tissue diseases |
|
| 162 | Pemphigoid (including epidermolysis bullosa acquisita) | Skin/connective tissue diseases |
|
| 163 | Idiopathic acquired generalized anhidrosis | Skin/connective tissue diseases | |
| 164 | oculocutaneous albinism | Visual system disorders | |
| 165 | Hypertrophic cutaneous periosteal disease | Syndromes involving changes in chromosomes or genes | |
| 166 | Pseudoxanthoma elasticum | Skin/connective tissue diseases | |
| 167 | Marfan syndrome | Skin/connective tissue diseases | |
| 168 | Ehlers-Danlos syndrome | Skin/connective tissue diseases | |
| 169 | Menkes disease | metabolic disease | |
| 170 | Occipital horn syndrome | Skin/connective tissue diseases | |
| 171 | Wilson disease | metabolic disease | |
| 172 | Hypophosphatasia | Bone and joint diseases | |
| 173 | VATER syndrome | Syndromes involving changes in chromosomes or genes | |
| 174 | Nasu-Hakora disease | Syndromes involving changes in chromosomes or genes | |
| 175 | Weaver syndrome | Syndromes involving changes in chromosomes or genes | |
| 176 | Coffin-Lowry syndrome | Syndromes involving changes in chromosomes or genes | |
| 177 | Joubert syndrome-related disorders (Arima syndrome) | Neuromuscular diseases | |
| 178 | Mowat-Wilson syndrome | Syndromes involving changes in chromosomes or genes | |
| 179 | Williams syndrome | Syndromes involving changes in chromosomes or genes | |
| 180 | ATR-X syndrome | Syndromes involving changes in chromosomes or genes | |
| 181 | Crouzon syndrome | Syndromes involving changes in chromosomes or genes | |
| 182 | Apert syndrome | Syndromes involving changes in chromosomes or genes | |
| 183 | Pfeiffer syndrome | Syndromes involving changes in chromosomes or genes | |
| 184 | Antley-Bixler syndrome | Syndromes involving changes in chromosomes or genes | |
| 185 | Coffin-Siris syndrome | Syndromes involving changes in chromosomes or genes | |
| 186 | Rothmund-Thomson syndrome | Syndromes involving changes in chromosomes or genes | |
| 187 | kabuki syndrome | Syndromes involving changes in chromosomes or genes | |
| 188 | polysplenia syndrome | Syndromes involving changes in chromosomes or genes | |
| 189 | Asplenia syndrome | Syndromes involving changes in chromosomes or genes | |
| 190 | Branchio-oto-renal syndrome | Hearing and balance disorders | |
| 191 | Werner syndrome | Syndromes involving changes in chromosomes or genes | |
| 192 | Cockayne Syndrome | Syndromes involving changes in chromosomes or genes | |
| 193 | Prader-Willi syndrome | Syndromes involving changes in chromosomes or genes |
|
| 194 | Sotos syndrome | Syndromes involving changes in chromosomes or genes | |
| 195 | Noonan syndrome | Syndromes involving changes in chromosomes or genes | |
| 196 | Young-Simpson syndrome | Syndromes involving changes in chromosomes or genes | |
| 197 | 1p36 deletion syndrome | Syndromes involving changes in chromosomes or genes | |
| 198 | 4p deletion syndrome | Syndromes involving changes in chromosomes or genes | |
| 199 | 5p deletion syndrome | Syndromes involving changes in chromosomes or genes | |
| 200 | Chromosome 14 paternal disomy syndrome | Syndromes involving changes in chromosomes or genes | |
| 201 | Angelman Syndrome | Neuromuscular diseases | |
| 202 | Smith-McGinnis syndrome | Syndromes involving changes in chromosomes or genes | |
| 203 | 22q11.2 deletion syndrome | Syndromes involving changes in chromosomes or genes | |
| 204 | Emanuel Syndrome | Syndromes involving changes in chromosomes or genes | |
| 205 | Fragile X syndrome-related disorders | Syndromes involving changes in chromosomes or genes | |
| 206 | Fragile X syndrome | Syndromes involving changes in chromosomes or genes | |
| 207 | Persistent truncus arteriosus | circulatory system disease |
|
| 208 | Corrected transposition of the great arteries | circulatory system disease |
|
| 209 | Complete transposition of the great arteries | circulatory system disease |
|
| 210 | Single ventricle | circulatory system disease |
|
| 211 | Hypoplastic left heart syndrome | circulatory system disease |
|
| 212 | Tricuspid atresia | circulatory system disease |
|
| 213 | Pulmonary atresia without ventricular septal defect | circulatory system disease |
|
| 214 | Pulmonary atresia with ventricular septal defect | circulatory system disease |
|
| 215 | Tetralogy of Fallot | circulatory system disease |
|
| 216 | Bilateral great vessel right ventricular origin | circulatory system disease |
|
| 217 | Epstein's disease | circulatory system disease |
|
| 218 | Alport syndrome | Kidney and urinary system diseases |
|
| 219 | Galloway-Mowat syndrome | Kidney and urinary system diseases |
|
| 220 | Rapidly progressive glomerulonephritis | Kidney and urinary system diseases |
|
| 221 | Antiglomerular basement membrane nephritis | Kidney and urinary system diseases |
|
| 222 | Primary nephrotic syndrome | Kidney and urinary system diseases |
|
| 223 | Primary membranoproliferative glomerulonephritis | Kidney and urinary system diseases |
|
| 224 | Purpura nephritis | Kidney and urinary system diseases |
|
| 225 | Congenital nephrogenic diabetes insipidus | Kidney and urinary system diseases |
|
| 226 | Interstitial cystitis (Hanna type) | Kidney and urinary system diseases |
|
| 227 | Osler's disease | Syndromes involving changes in chromosomes or genes | |
| 228 | Bronchiolitis obliterans | respiratory disease |
|
| 229 | Alveolar proteinosis (autoimmune or congenital) | respiratory disease |
|
| 230 | Alveolar hypoventilation syndrome | respiratory disease |
|
| 231 | Alpha-1 antitrypsin deficiency | respiratory disease |
|
| 232 | Kearney Complex | Syndromes involving changes in chromosomes or genes | |
| 233 | Wolfram syndrome | Endocrine disorders | |
| 234 | Peroxisomal disorders (excluding adrenoleukodystrophy) | metabolic disease | |
| 235 | hypoparathyroidism | Endocrine disorders | |
| 236 | pseudohypoparathyroidism | Endocrine disorders | |
| 237 | Adrenocorticotropic hormone resistance syndrome | Endocrine disorders | |
| 238 | Vitamin D-resistant rickets/osteomalacia | Bone and joint diseases |
|
| 239 | Vitamin D-dependent rickets/osteomalacia | Endocrine disorders |
|
| 240 | Phenyleketonuria | metabolic disease | |
| 241 | Hypertyrosinemia type 1 | metabolic disease | |
| 242 | Hypertyrosinemia type 2 | metabolic disease | |
| 243 | Hypertyrosinemia type 3 | metabolic disease | |
| 244 | Maple syrup urine disease | metabolic disease | |
| 245 | Propionic acidemia | metabolic disease | |
| 246 | Methylmalonic acidemia | metabolic disease | |
| 247 | Isovaleric acidemia | metabolic disease | |
| 248 | Glucose transporter 1 deficiency | metabolic disease | |
| 249 | Glutaric acidemia type 1 | metabolic disease | |
| 250 | Glutaric acidemia type 2 | metabolic disease | |
| 251 | Urea cycle disorders | metabolic disease | |
| 252 | Lysinuric protein intolerance | metabolic disease | |
| 253 | Congenital folate malabsorption | metabolic disease | |
| 254 | Porphyria | metabolic disease | |
| 255 | Multiple carboxylase deficiency | metabolic disease | |
| 256 | muscle glycogen storage disease | metabolic disease | |
| 257 | hepatic glycogen storage disease | metabolic disease | |
| 258 | Galactose-1-phosphate uridyltransferase deficiency | metabolic disease | |
| 259 | Lecithin cholesterol acyltransferase deficiency | metabolic disease | |
| 260 | Sitosterolemia | metabolic disease | |
| 261 | Tangier disease | metabolic disease | |
| 262 | Primary hyperchylomicronemia | metabolic disease | |
| 263 | Cerebrotendinous xanthomatosis | metabolic disease | |
| 264 | Abetalipoproteinemia | metabolic disease | |
| 265 | lipoatrophy | metabolic disease | |
| 266 | Familial Mediterranean fever | immune system disease | |
| 267 | HyperIgD syndrome | immune system disease | |
| 268 | Nakajo-Nishimura syndrome | immune system disease | |
| 269 | Suppurative aseptic arthritis, pyoderma gangrenosum, and acne syndrome | immune system disease | |
| 270 | Chronic recurrent multifocal osteomyelitis | Bone and joint diseases | |
| 271 | ankylosing spondylitis | Bone and joint diseases |
|
| 272 | Fibrodysplasia ossificans progressiva | Bone and joint diseases | |
| 273 | Congenital scoliosis with rib abnormalities | Bone and joint diseases | |
| 274 | osteogenesis imperfecta | Bone and joint diseases | |
| 275 | thanatophoric dysplasia | Bone and joint diseases | |
| 276 | achondroplasia | Bone and joint diseases | |
| 277 | Lymphangiomatosis/Gorham disease | respiratory disease |
|
| 278 | Giant lymphatic malformation (cervical facial lesion) | respiratory disease | |
| 279 | Giant venous malformation (diffuse lesion in the cervical oropharyngeal region) | circulatory system disease |
|
| 280 | Giant arteriovenous malformation (cervical, facial, or limb lesions) | circulatory system disease |
|
| 281 | Klippel-Trenaunay-Weber syndrome | circulatory system disease |
|
| 282 | Congenital red cell dysplasia anemia | Blood system disorders | |
| 283 | Acquired erythroblastic aplasia | Blood system disorders |
|
| 284 | Diamond-Blackfan anemia | Blood system disorders |
|
| 285 | Fanconi anemia | Blood system disorders |
|
| 286 | Hereditary sideroblastic anemia | Blood system disorders |
|
| 287 | Epstein's syndrome | Syndromes involving changes in chromosomes or genes | |
| 288 | Autoimmune acquired clotting factor deficiency | immune system disease | |
| 289 | Cronkite-Canada Syndrome | digestive system diseases |
|
| 290 | Nonspecific multiple small intestinal ulcers | digestive system diseases |
|
| 291 | Hirschsprung's disease (total colon or small intestine) | digestive system diseases | |
| 292 | Cloacal exstrophy | digestive system diseases | |
| 293 | Cloacal remnant | digestive system diseases | |
| 294 | Congenital diaphragmatic hernia | digestive system diseases | |
| 295 | Giant hepatic hemangioma in infants | digestive system diseases | |
| 296 | biliary atresia | digestive system diseases | |
| 297 | Alagille Syndrome | Syndromes involving changes in chromosomes or genes | |
| 298 | Hereditary pancreatitis | digestive system diseases | |
| 299 | Cystic fibrosis | digestive system diseases | |
| 300 | IgG4-related disease | immune system disease |
|
| 301 | Macular dystrophy | Visual system disorders | |
| 302 | Leber's hereditary optic neuropathy | Visual system disorders |
|
| 303 | Usher Syndrome | Visual system disorders | |
| 304 | Early-onset bilateral sensorineural hearing loss | ENT diseases |
|
| 305 | Delayed endolymphatic hydrops | ENT diseases |
|
| 306 | Eosinophilic sinusitis | immune system disease |
|
| 307 | Canavan disease | Neuromuscular diseases | |
| 308 | Progressive leukoencephalopathy | Neuromuscular diseases | |
| 309 | Progressive myoclonic epilepsy | Neuromuscular diseases | |
| 310 | birth defect syndrome | Syndromes involving changes in chromosomes or genes | |
| 311 | Congenital tricuspid stenosis | circulatory system disease |
|
| 312 | Congenital mitral stenosis | circulatory system disease |
|
| 313 | Congenital pulmonary vein stenosis | circulatory system disease |
|
| 314 | Left pulmonary artery Right pulmonary artery origin | circulatory system disease |
|
| 315 | Nail-patella syndrome/LMX1B-related nephropathy | Kidney and urinary system diseases | |
| 316 | Carnitine cycle disorders | metabolic disease | |
| 317 | Triglyceride deficiency | metabolic disease | |
| 318 | Citrin deficiency | metabolic disease | |
| 319 | Sepiapterin reductase (SR) deficiency | metabolic disease | |
| 320 | Congenital glycosylphosphatidylinositol (GPI) deficiency | Syndromes involving changes in chromosomes or genes | |
| 321 | Nonketotic hyperglycinemia | metabolic disease | |
| 322 | Beta-ketothiolase deficiency | metabolic disease | |
| 323 | Aromatic L-amino acid decarboxylase deficiency | metabolic disease | |
| 324 | Methylglutaconic aciduria | metabolic disease | |
| 325 | Hereditary autoinflammatory disorders | immune system disease | |
| 326 | osteopetrosis | metabolic disease | |
| 327 | Idiopathic thrombosis (limited to those caused by hereditary thrombophilia) | Blood system disorders |
|
| 328 | Anterior segment dysplasia | Visual system disorders | |
| 329 | Aniridia | Visual system disorders | |
| 330 | Congenital tracheal stenosis/congenital subglottic stenosis | respiratory disease | |
| 331 | Idiopathic multicentric Castleman disease | Blood system disorders |
|
| 332 | Colloid droplet corneal dystrophy | Visual system disorders | |
| 333 | Hutchinson-Gilford syndrome | Syndromes involving changes in chromosomes or genes |
