List of diseases 2012 PatientsMap US
Rare disease
269 Spinocerebellar degeneration
270 Shy-Drager syndrome
271 Moyamoya disease
272 Guillain-Barre syndrome
273 Fisher's syndrome
274 Chronic Inflammatory Demyelinating Polyneuropathy
275 Multifocal motor neuropathy (Lewis-Sumner syndrome)
276 Peripheral neuritis with MAb (Crow-Fukase syndrome)
277 Spinal muscular atrophy (SMA)
278 Spinal and bulbar muscular atrophy (SBMA)
279 Syringomyelia
280 Huntington disease
281 Progressive supranuclear palsy
282 Striatonigral degeneration (SND)
283 Peroxisomal disorder
284 Lysosomal storage diseases
285   Mucopolysaccharidosis (MPS) I
286   Mucopolysaccharidosis (MPS) II
287   Gaucher's disease
288   Fabry disease
289   Pompe disease
290 Creuzfeldt-Jakob Disease (CJD)
291 Gerstmann-Straussler-Sheinker syndrome (GSS)
292 Fatal familial insomnia
293 Subacute sclerosing panencephalitis (SSPE)
294 Progressive Multifocal Leukoencephalopathy(PML)
295 Ossification of Posterior Longitudinal Ligament (OPLL)
296 Ossification of the ligamentum flavum
297 Ossification of Anterior Longitudinal Ligament (OALL)
298 Disseminated spinal canal stenosis
299 Idiopathic necrosis of the femoral head
300 Idiopathic steroidal osteonecrosis
301 Retinitis pigmentosa
302 Refractory optic neuropathy
303 Idiopathic bilaterally sensorineural deafness
304 Delayed endolymphatic hydrops
305 Syndrome of abnormal secretion of prolactin
306 Syndrome of abnormal secretion of gonadotropin
307 Syndrome of abnormal secretion of antidiuretic hormone
308 Central eating disorder
309 Primary Aldosteronism (PA)
310 Pseudohypoaldosteronism
311 Glucocorticoid resistance syndrome
312 Adrenal enzyme deletion
313 Adrenal hypoplasia
314 Pseudohypoparathyroidism
315 Syndrome of abnormal vitamin D receptor
316 Syndrome of abnormal recepter of TSH
317 Thyroid hormone resistance syndrome
318 Hemolytic anemia
319 Refractory anemia
320 Idiopathic thrombosis
321 Thrombotic thrombocytopenic purpura (TTP)
322 IgA nephropathy
323 Rapidly progressive glomerulonephritis
324 Refractory nephrotic syndorme
325 Polycystic kidney
326 Hypertrophic cardiomyopathy
327 Dilated cardiomyopathy
328 Restrictive cardiomyopathy
329 Mitochondrial disease
330 Familial sudden death syndrome
331 Primary hyperlipidemia
332 @Familial hypercholesterolemia
333 Idiopathic interstitial pneumonia
334 Sarcoidosis
335 Diffuse panbronchiolitis (DPB)
336 Autoimmune hepatitis
337 Primary biliary cirrhosis
338 Fluminant hepatitis
339 Idiopathic portal hypertension (IPH)
340 Extrahepahc portal obstruction
341 Budd-Chiari syndrome
342 Intrahepatic lithiasis
343 Intrahepatic bile duct disease
344 Cystic fibrosis
345 Severe acute pancreatitis
346 Chronic pancreatitis
347 Amyloidosis
348 Behcet disease
349 Systemic Lupus Erythematosus (SLE)
350 Sjogren's syndrome
351 Adult Still's Disease (ASD)
352 Takayasu's disease (aortitis syndrome)
353 Buerger disease
354 Polyarteritis nodosa
355 Wegener granulomatosis
356 Allergic Granulomatous Angitis (AGA)
357 Malignant rheumatoid arthritis (rheumatoid vasculitis)
358 Temporal arteritis
359 Anti-phospholipid antibody syndrome (APS)
360 Eosinophilic fasciitis
361 Lichen sclerosus et atrophicus
362 Primary immunodeficiency syndrome
363 Juvenile emphysema
364 Langerhans-Cell Histiocytosis (LCH)
365 Obesity Hypoventilation Syndrome (OHS)
366 Alveolar hypoventilation syndrome
367 Idiopathic chronic pulmonary thromboembolism w/ pulmonary HTN
368 Mixed connective-tissue disease
369 Neurofibromatosis type 1 (Recklinghausen's disease)
370 Neurofibromatosis type 2
371 Tuberous sclerosis (Bourneville-Pringle)
372 Epidermolysis bullosa
373 Pustular psoriasis
374 Pemphigus
375 Corticobasal degeneration
376 Severe erythema multiforme (Acute Phase)
377 Lymphangioleiomyomatosis (LAM)
378 Fibrodysplasia Ossificans Progressiva (FOP)
379 Xeroderma Pigmentosum (XP)
380 Subacute Myelo-Optico-Neuropathy (SMON)
381 Hypopituitarism
382 Cushing disease
383 Acromegaly
384 Primary lateral sclerosis
385 Chorea with acanthocyte
386 HTLV1-associated myelopathy (HAM)
387 Congenital ichthyosiform erythroderma
388 Angiitis