Diseases Featured on Mystery Diagnosis

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 1, Pilot: Grasping For Straws

• Carcinoid Cancer
  
• Cushing's Disease
  
• Gout

Season 1, Ep. 1: Like Mother, Like Son

• Celiac Disease
• Epilepsy
• Mitral Valve Prolapse

Season 1, Ep. 2: Not A Normal Newborn

• Cardiac Arrhythmia
  
• Hurler's Disease
  
• Myasenthia Gravis
  

Season 1, Ep. 3: Isaac's Nightmare

• Common Variable Immunodeficiency
• Gastrointestinal Stromal Tumor
  
• Reflex Sympathetic Disorder

Season 1, Ep. 4: Why is Emily Screaming?

• Alpha-1 Antitripsin Deficiency
• Polycystic Ovarian Syndrome (PCOS)
  
• Trigeminal Neuralgia

Season 1, Ep. 5: Blood & Fire

• AIDS
  
• Chiari 1 Malformation

Season 1, Ep. 6: Desperate For A Cure

• Brucellosis
  
• Cervical Dystonia
  
• Crohn's Disease
  

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 2, Ep. 7: Blood Brothers

• Barth Syndrome
  
• Behcet's Disease
  

Season 2, Ep. 8: A Puff of Smoke

• Churg-Strauss Syndrome
  
• Moya Moya Disease
  
• Non-islet Cell Tumor

Season 2, Ep. 9: An Unquenchable Thirst

• Cystinosis
  
• Meningyoma
  
• Whipple's Disease
  

Season 2, Ep. 10: Lethal Diet

• Cushing's Syndrome
  
• Pyruvate Dehydrogenase Complex Deficiency
  
• Sleep Apnea
  

Season 2, Ep. 11: Falling Through The Cracks

• Antiphospholipid Antibody Syndrome (APS or AP Syndrome)
• Temporal Lobe Encephalitis
  
• Turner Syndrome
  

Season 2, Ep. 12: Eaten Alive

• Argininosuccinic Aciduria (ASA)
  
• Hereditary Hemorrhagic Telangiectasia
  
• Necrotizing Fasciitis
  

Season 2, Ep. 13: The Man Who Never Sweats

• Costello Syndrome
  
• Fabry Disease
  
• Wilson's Disease
  

Season 2, Ep. 14: Fatal Secret

• Central Diabetes Insipidus
  
• Fourth Cranial Nerve Palsy
  
• Scleroderma
  

Season 2, Ep. 15: The Stabbing Sensation

• Kawasaki Disease
  
• Lyme Disease
  
• Ovarian Cancer
  

Season 2, Ep. 16: The Man With Rocks in His Chest

• Histoplasmosis
  
• Lupus
  
• Nemo Deficiency Disorder
  

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 3, Ep. 1: Sleeping Beauty

• Colon Cancer
  
• Kleine-Levin Syndrome
  

Season 3, Ep. 2: The Man Who Turned Orange

• Hereditary Hemochromatosis
  
• Wegener's Granulomatosis
  

Season 3, Ep. 3: Deadly Sore Throat

• Lemierre's Syndrome
  
• Lyme Disease
  

Season 3, Ep. 4: The 13 Year Stomach Ache

• Cavernous Angioma
  
• Gastrointestinal Stromal Tumor
  

Season 3, Ep. 5: The Bearded Lady

• Nonclassical Congenital Adrenal Hyperplasia
  
• Polyangiitis Overlap Syndrome
  

Season 3, Ep. 6: The Boy Who Couldn't Breathe

• Congenital Cystic Adenomatoid Malformation (CCAM)
  
• Habba Syndrome
  
• Multiple Sclerosis
  

Season 3, Ep. 7: Frenetic Genetics

• Adult Onset Still's Disease
  
• Cerebrotendinous Xanthomatosis
  

Season 3, Ep. 8: The Baby Who Changed Colors

• Pseudoxanthoma Elasticum
  
• Segawa's Dystonia
  
• Septo Optic Dysplasia
  

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 4, Ep. 1: The Girl Who Couldn't Eat

• Hunter Syndrome
  
• Sphincter of Oddi Dysfunction
  

Season 4, Ep. 2: Bizarre Visions

• Pernicious Anemia
  
• Polymyositis
  

Season 4, Ep. 3: The Woman Who Craved Pickles

• Addison's Syndrome
  
• Diaphragmatic Hernia
  

Season 4, Ep. 4: Donor Disaster

• Paroxysmal Nocturnal Hemoglobinuria
  
• Undifferentiated Seronegative Spondyloarthropathy
  

Season 4, Ep. 5: The Purple Puzzle

• Lymphoma and Cold Agglutinin Disease
  
• Shwachman-Diamond Syndrome

Season 4, Ep. 6: A Case of Paralysis

• Guillain-Barré Syndrome
  
• Tolosa Hunt Syndrome
  

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 5, Ep. 1: The Girl Who Couldn't Be Touched

• Jugular Foramen Schwannoma
  
• Paroxysmal Extreme Pain Disorder
  

Season 5, Ep. 2: The Girl Who Gagged

• Epilepsy
  
• Hypersensitive Pneumonitis
  

Season 5, Ep. 3: The Woman Who Kept Falling Down

• Mastocytosis
  
• Orthostatic Intolerance Syndrome
  
  

Season 5, Ep. 4: A Deadly Cough

• Hodgkin's Lymphoma
• Tyrosinemia

Season 5, Ep. 5: The Girl Nobody Believed

• Pulmonary Hypertension
• Reiter's Syndrome

Season 5, Ep. 6: The Headache That Wouldn't Go Away

• Patent Foramen Ovale (PFO)
• Surfactant C Protein Dysfunction Mutation

Season 5, Ep. 7: The Sickest Patient in the Hospital

• Polyarteritis Nodosa
• Porphyria

Season 5, Ep. 8: Terrifying Tremors

• Autoimmune Polyglandular Syndrome (APS) Type 1
• Endometriosis

Season 5, Ep. 9: The Woman Who Couldn't Cry

• Amyloidosis
• Sjogren Syndrome

Season 5, Ep. 10: The Woman with a Knife in Her Head

• Cerebrospinal Fluid Leak
• Hashimoto's Disease

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 6, Ep. 1: The Woman with the Giant Lump

• Hirschsprung's Disease
• Paraganglioma Tumor

Season 6, Ep. 2: The Baby Who Wouldn't Stop Crying

• Ehlers-Danlos Syndrome
• Malignant Infantile Osteoporosis

Season 6, Ep. 3: The Girl Who Couldn't Wake Up

• Hypopituitarism
• Pseudotumor Cerebri

Season 6, Ep. 4: The Woman Who Couldn't Stop Rocking

• Hereditary Angioedema (HAE)
• Mal de Debarquement

Season 6, Ep. 5: The Girl Who Couldn't Move

• Fibrodysplasia Ossificans Progressiva (FOP)
• Thrombotic Thrombocytopenic Purpura (TTP)

Season 6, Ep. 6: The Boy Who Kept Swelling

• Erythropoietic Protoporphyria
• Pheochromocytoma

Season 6, Ep. 7: The Boy Who Stopped Walking

• Infantile NeuroAxonal Dystrophy (NAD)
• TrimethylaMinuria (TMAU)

Season 6, Ep. 8: The Boy Who Bit Himself

• Lesch-Nyhan Syndrome (LNS)
• Devic's Disease

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 7, Ep. 1: The Boy Who Could Break

• Acute Disseminated Encephalomytelitis (ADEM)
• Hajdu-Cheney Syndrome

Season 7, Ep. 2: The Black and Blue Baby

• Intussusception
• Myelodysplastic Syndrome

Season 7, Ep. 3: The Baby Who Couldn't Stop Eating

• Congenital Hyperinsulinism
• Marfan Syndrome

Season 7, Ep. 4: The Girl Who Fell Apart

• Kikuchi-Fujimoto Disease
• Pompe Disease

Season 7, Ep. 5: The Girl with Holes in Her Jaw

• Lymphangiomatosis
• Neurofibromas

Season 7, Ep. 6: The Girl Who Fell to Pieces

• Carnitine Palmitoyl Transferase II Deficiency
• Unicornuate Uterus

Season 7, Ep. 7: The Breasts That Changed Color

• Angelman Syndrome
• Inflammatory Breast Cancer

Season 7, Ep. 8: The Woman Who Saw Pink

• Langerhans Cell Histiocytosis
• Serratia Marcescens

Season 7, Ep. 9: The Woman Who Went Crazy

• Buerger's Disease
• Fibromuscular Dysplasia

Season 7, Ep. 10: The Woman Who Couldn't Stop Burping

• Congenital Diaphragmatic Hernia
• Anti-NMDA-Receptor Encephalitis

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

• Acute Disseminated Encephalomytelitis (ADEM)
• Acoustic Neuroma
• Addison's Syndrome
• Adult Onset Still's Disease
• AIDS
• Alpha-1 Antitripsin Deficiency
• Amyloidosis
• Angelman Syndrome
• Anti-NMDA-Receptor Encephalitis
• Antiphospholipid Antibody Syndrome (APS or AP Syndrome)
• Argininosuccinic Aciduria (ASA)
• Autoimmune Polyglandular Syndrome (APS) Type 1
• Autoimmune Progesterone Dermatitis

• Bacteria Endocarditis
• Barth Syndrome
• Behcet's Disease
• Bickerstaff Brainstem Encephalitis
• Brucellosis
• Buerger's Disease
• Bullous Pemphigoid

• Carcinoid Cancer
• Cardiac Arrhythmia
• Carnitine Palmitoyl Transferase II Deficiency
• Cavernous Angioma
• Celiac Disease
• Central Diabetes Insipidus
• Cerebrospinal Fluid Leak
• Cerebrotendinous Xanthomatosis
• Cervical Dystonia
• Chiari 1 Malformation
• Children's Interstitial Lung Disease
• Churg-Strauss Syndrome
• Cockayne Syndrome
• Colon Cancer
• Common Variable Immunodeficiency
• Congenital Cystic Adenomatoid Malformation (CCAM)
• Congenital Diaphragmatic Hernia
• Congenital Hyperinsulinism
• Congential Insensitivity to Pain
• Costello Syndrome
• Crohn's Disease
• Cryoglobulinemia
• Cushing's Disease
• Cystinosis

• Dercum's Disease
• Devic's Disease
• Diaphragmatic Hernia

• Ehlers-Danlos Syndrome
• Endometriosis
• Epilepsy
• Erythropoietic Protoporphyria

• Fabry Disease
• Fibrodysplasia Ossificans Progressiva (FOP)
• Fibromuscular Dysplasia
• Fourth Cranial Nerve Palsy
  

• Gastrointestinal Stromal Tumor
• Glanzmann's Thrombosthenia
• Glucagonoma
• Gout
• Guillain-Barré Syndrome

• Habba Syndrome
• Hajdu-Cheney Syndrome
• Hashimoto's Disease
• Hereditary Angioedema (HAE)
• Hereditary Hemochromatosis
• Hermansky Pudlak Syndrome
• Hereditary Hemorrhagic Telangiectasia
• Hidradenitis Suppurativa
• Hirschsprung's Disease
• Histoplasmosis
• Hodgkin's Lymphoma
• Hunter Syndrome
• Hurler's Disease
• Hyperkalemic Periodic Paralysis
• Hypersensitive Pneumonitis
• Hypopituitarism

• Infantile NeuroAxonal Dystrophy (NAD)
• Inflammatory Breast Cancer
• Intussusception

• Jugular Foramen Schwannoma

• Kawasaki Disease
• Kikuchi-Fujimoto Disease
• Kleine-Levin Syndrome
• Klippel Trenaunay Syndrome

• Langerhans Cell Histiocytosis
• Lemierre's Syndrome
• Lesch-Nyhan Syndrome (LNS)
• Lupus
• Lyme Disease
• Lymphangiomatosis
• Lymphangioleiomyomatosis
• Lymphoma and Cold Agglutinin Disease

• Mal de Debarquement
• Malignant Infantile Osteoporosis
• Maple Syrup Urine Disease
• Marfan Syndrome
• Mastocytosis
• Mccune Albright Syndrome
• Meningyoma
• Microscopic Polyangiitis
• Mitral Valve Prolapse
• Moya Moya Disease
  
• Multiple Sclerosis
• Multicentric Reticulo Histiocyosis
• Myasenthia Gravis
• Myelodysplastic Syndrome

• Necrotizing Fasciitis
• Nemo Deficiency Disorder
• Neurofibromas
• Nonclassical Congenital Adrenal Hyperplasia
• Non-islet Cell Tumor

• Opsoclonus Myoclonus Ataxia Syndrome
• Orthostatic Intolerance Syndrome
• Ovarian Cancer

• PANDAS
• Paraganglioma Tumor
  
• Paroxysmal Extreme Pain Disorder
• Paroxysmal Nocturnal Hemoglobinuria
  
• Paroxysmal Tonic Upgaze
• Paraneoplastic Cerebellar Degeneration
• Parry Romberg Syndrome
• Patent Foramen Ovale (PFO)
• Pernicious Anemia
• Pheochromocytoma
• Pineal Germinoma
• Polyangiitis Overlap Syndrome
• Polyarteritis Nodosa
• Polycystic Ovarian Syndrome (PCOS)
• Polymyositis
• Pompe Disease
• Porphyria
• Prader Willi Syndrome
• Pulmonary Hypertension
• Pseudotumor Cerebri
• Pseudoxanthoma Elasticum (PXE)
• Pyridoxine Dependent Seizures
• Pyroderma Gangrenosum
• Pyruvate Dehydrogenase Complex Disorder

• Reflex Sympathetic Disorder
• Reiter's Syndrome

• Sciatic Endometriosis
• Scleroderma
• Shwachman-Diamond Syndrome
• Segawa's Dystonia
• Septo Optic Dysplasia
• Serratia Marcescens
• Sjogren Syndrome
• Sleep Apnea
• Spasmodic Dysphonia
• Sphincter of Oddi Dysfunction
• Stevens Johnson Syndrome
• Stiff Person Syndrome
• Superior Mesenteric Artery Syndrome
• Surfactant C Protein Dysfunction Mutation
• Susac's Syndrome
• Swallowing Syncope
• Swyer Syndrome
• Systemic Capillary Leak Syndrome

• Temporal Lobe Encephalitis
• Thrombotic Thrombocytopenic Purpura (TTP)
• Tolosa Hunt Syndrome
  
• Transverse Myelitis
• Trigeminal Neuralgia
• TrimethylaMinuria (TMAU)
• Turner Syndrome
• Tyrosinemia

• Undifferentiated Seronegative Spondyloarthropathy
• Unicornuate Uterus

• Wegener's Granulomatosis
• Whipple's Disease
• Wilson's Disease

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 8, Ep. 1: The Boy Who Never Cried

• Congential Insensitivity to Pain
• Swallowing Syncope

Season 8, Ep. 2: The Girl with Half a Face

• Bickerstaff Brainstem Encephalitis
• Parry Romberg Syndrome

Season 8, Ep. 3: The Girl Who Stopped Growing

• Cockayne Syndrome
• Spasmodic Dysphonia

Season 8, Ep. 4: The Boy with the Strange Stare

• Paroxysmal Tonic Upgaze
• Microscopic Polyangiitis

Season 8, Ep. 5: The Baby who Smelled like Pancakes

• Paraneoplastic Cerebellar Degeneration
• Maple Syrup Urine Disease

Season 8, Ep. 6: The Woman Who's Legs Turned Black

• Cryoglobulinemia
• Acoustic Neuroma

Season 8, Ep. 7: The Man Who Tripled In Size

• Systemic Capillary Leak Syndrome
• Pineal Germinoma

Season 8, Ep. 8: The Girl Who Was Covered In Bumps

• Sciatic Endometriosis
• Cerebrotendinous Xanthomatosis

Season 8, Ep. 9: The Boy Who Couldn't Stop Eating

• Stevens Johnson Syndrome
• Prader Willi Syndrome

Season 8, Ep. 10: The Girl Whose Skin Came Off

• Bullous Pemphigoid
• Stiff Person Syndrome

Season 1 | Season 2 | Season 3 | Season 4 | Season 5 | Season 6 | Season 7 | Season 8 | Season 9 | Diseases A to Z

Season 9, Ep. 1: The Woman Whose Flesh Was Eaten Alive

• Pyroderma Gangrenosum
• Pyridoxine Dependent Seizures

Season 9, Ep. 2: The Boy Who Only Hopped

• PANDAS
• Autoimmune Progesterone Dermatitis

Season 9, Ep. 3: The Man With A Hundred Lumps

• Dercum's Disease
• Bacteria Endocarditis

Season 9, Ep. 4: The Baby Who Bruised Easily

• Glanzmann's Thrombosthenia
• Hyperkalemic Periodic Paralysis

Season 9, Ep. 5: The Girl With No Bowel

• Hermansky Pudlak Syndrome
• Multicentric Reticulo Histiocyosis

Season 9, Ep. 6: The Man Covered In Boils

• Hidradenitis Suppurativa
• Susac's Syndrome

Season 9, Ep. 7: The Toddler That Went Through Puberty

• Mccune Albright Syndrome
• Superior Mesenteric Artery Syndrome

Season 9, Ep. 8: The Toddler That Stopped Walking

• Opsoclonus Myoclonus Ataxia Syndrome
• Transverse Myelitis

Season 9, Ep. 9: The Woman With Unusual Dna

• Swyer Syndrome
• Lymphangioleiomyomatosis

Season 9, Ep. 10: The Boy With The 150 Pound Leg

• Klippel Trenaunay Syndrome
• Glucagonoma

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