Conditions A-Z
Browse medical conditions to learn about symptoms, causes, and lab tests that may help diagnose them.
1
2
3
- 3-hydroxy-3-methylglutaric aciduria
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- 3-methylglutaconic aciduria type 8
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
A
- AA amyloidosis
- Abetalipoproteinemia
- Achenbach Syndrome
- Acne Vulgaris
- Acoustic Neuroma
- Acquired aneurysmal subarachnoid hemorrhage
- Acquired methemoglobinemia
- Acquired von Willebrand syndrome
- Acromegaly
- Acute adrenal insufficiency
- Acute disseminated encephalomyelitis
- Acute intermittent porphyria
- Acute interstitial pneumonia
- Acute liver failure
- Acute promyelocytic leukemia
- Acute radiation syndrome
- Acute transverse myelitis
- Addison disease
- Adenylosuccinate synthetase-like 1-related distal myopathy
- Adiposis dolorosa
- Adrenal Insufficiency
- Adrenocortical carcinoma
- Adrenocortical carcinoma with pure aldosterone hypersecretion
- adrenoleukodystrophy
- Adult-onset autosomal dominant leukodystrophy
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Adult-onset distal myopathy due to VCP mutation
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- Adult-onset Still disease
- African trypanosomiasis
- Age-Related Macular Degeneration
- AGel amyloidosis
- Aggressive systemic mastocytosis
- Agoraphobia
- Aicardi-Goutières syndrome
- Aicardi-Goutieres syndrome 7
- Aicardi-Goutieres syndrome 9
- AL amyloidosis
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Alexander disease
- Alice in Wonderland Syndrome
- Allergic Asthma
- Allergic Rhinitis
- Alobar holoprosencephaly
- Alpha-B crystallin-related late-onset myopathy
- Alpha-mannosidosis, infantile form
- alpha-methylacyl-CoA racemase deficiency
- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Alport syndrome
- Alstrom syndrome
- Alström syndrome
- Alternating hemiplegia of childhood
- Alveolar echinococcosis
- Alzheimer Disease
- American trypanosomiasis
- Amoebiasis due to Entamoeba histolytica
- Amoebiasis due to free-living amoebae
- amyloidosis, hereditary systemic 1
- Amyotrophic lateral sclerosis
- amyotrophic lateral sclerosis type 21
- Anal Fissure
- Anaplastic thyroid carcinoma
- Anemia
- Angelman syndrome
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Angiostrongyliasis
- Ankylosing Spondylitis
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Anti-glomerular basement membrane disease
- Antiphospholipid Syndrome
- Antisynthetase syndrome
- Anxiety and Panic
- Anxiety Disorder
- Aortic Aneurysm
- Appendicitis
- Arachnoid cyst
- Arachnoiditis
- Arboleda-Tham syndrome
- Arginine vasopressin deficiency
- Argininosuccinic aciduria
- Arnold-Chiari malformation type I
- Aromatic L-amino acid decarboxylase deficiency
- Arrhythmia
- Aspergillosis
- Asthma
- Atherosclerosis
- Athyreosis
- Atopic Dermatitis
- Atrial Fibrillation
- Attention Deficit Hyperactivity Disorder
- Autism Spectrum Disorder
- Autoerythrocyte sensitization syndrome
- Autoimmune hemolytic anemia, warm type
- Autoimmune hepatitis
- Autoimmune hypoparathyroidism
- Autoimmune pulmonary alveolar proteinosis
- autoinflammation and autoimmunity with immune dysregulation 2
- Autosomal dominant centronuclear myopathy
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant hypocalcemia
- Autosomal dominant optic atrophy, classic form
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal dominant spastic paraplegia type 9A
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive distal nebulin myopathy
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive progressive external ophthalmoplegia
- Avian influenza
B
- B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
- Babesiosis
- Bacterial toxic-shock syndrome
- Bartter disease type 1
- Bartter disease type 2
- Batten Disease
- Behçet disease
- Bell Palsy
- Benign Prostatic Hyperplasia
- Benign recurrent intrahepatic cholestasis
- Bernard-Soulier syndrome
- Beta-ketothiolase deficiency
- Bethlem muscular dystrophy
- Bethlem myopathy 1A
- Bickerstaff brainstem encephalitis
- Bilateral generalized polymicrogyria
- Bilateral perisylvian polymicrogyria
- Bilateral polymicrogyria
- Bilateral striopallidodentate calcinosis
- Biotinidase deficiency
- Bipolar Disorder
- Blau syndrome
- Bleeding disorder in hemophilia A carriers
- Blepharitis
- Botulism
- Boutonneuse fever
- Breast Cancer
- Bronchial neuroendocrine tumor
- Bronchitis
- Bronchogenic cyst
- Brown-Vialetto-van Laere syndrome 1
- Brown-Vialetto-van Laere syndrome 2
- Brucellosis
- Bursitis
C
- CACH syndrome
- CAR T cell therapy-associated cytokine release syndrome
- Carey-Fineman-Ziter syndrome 1
- Carney triad
- Caroli disease
- Caroli syndrome
- Carpal Tunnel Syndrome
- Castleman disease
- Cataracts
- Cauda Equina Syndrome
- CDKL5-deficiency disorder
- Celiac Disease
- Cellulitis
- Centronuclear myopathy 1
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
- Chagas Disease
- Charcot-Marie-Tooth disease axonal type 2C
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 1F
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4B2
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease X-linked dominant 1
- Charcot-Marie-Tooth disease, axonal, Type 2HH
- Charcot-Marie-tooth disease, axonal, type 2JJ
- Charcot-Marie-Tooth disease, axonal, type 2KK
- Chédiak-Higashi syndrome
- Chest Pain
- Chiari malformation type I
- Chickenpox
- Chikungunya
- Childhood absence epilepsy
- Chlamydia Infection
- Cholera
- Cholestasis-lymphedema syndrome
- Choreoacanthocytosis
- Christianson syndrome
- Chronic Cough
- Chronic Fatigue Syndrome
- Chronic graft versus host disease
- Chronic Kidney Disease
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- Chronic Pancreatitis
- Chronic Sinusitis
- CINCA syndrome
- Citrullinemia type II
- Classic galactosemia
- Classic Hodgkin lymphoma
- Classic mycosis fungoides
- Classical Ehlers-Danlos syndrome
- Classical-like Ehlers-Danlos syndrome type 1
- CLCN4-related X-linked intellectual disability syndrome
- Cluster Headache
- Cocaine intoxication
- Coccidioidomycosis
- Cockayne syndrome
- Cockayne syndrome type 1
- Cockayne syndrome type 2
- Cockayne syndrome type 3
- CODAS syndrome
- Coenzyme Q10 deficiency, primary, 7
- Coffin-Siris syndrome 12
- Coffin-Siris syndrome 6
- Cold agglutinin disease
- Colon Cancer
- Colorectal Cancer
- Combined deficiency of factor V and factor VIII
- Combined malonic and methylmalonic acidemia
- Combined oxidative phosphorylation defect type 27
- Common Cold
- Concussion
- Conduct Disorder
- Congenital alpha2-antiplasmin deficiency
- Congenital factor II deficiency
- Congenital factor V deficiency
- Congenital factor VII deficiency
- Congenital factor X deficiency
- Congenital factor XIII deficiency
- Congenital fiber-type disproportion myopathy
- Congenital fibrinogen deficiency
- Congenital Gerbode defect
- Congenital hyperinsulinism due to HNF4A deficiency
- Congenital multicore myopathy with external ophthalmoplegia
- Congenital myasthenic syndrome
- Congenital plasminogen activator inhibitor type 1 deficiency
- Congenital sucrase-isomaltase deficiency
- Congenital tracheomalacia
- Conjunctivitis
- Constipation
- Contact Dermatitis
- COPD
- Coproporphyria
- Cornelia de Lange syndrome 1
- Cornelia de Lange syndrome 7
- Coronary Artery Disease
- Costochondritis
- Craniofaciofrontodigital syndrome
- CREST Syndrome
- Crigler-Najjar syndrome
- Crimean-Congo hemorrhagic fever
- Cronkhite-Canada syndrome
- Croup
- Cryoglobulinemic vasculitis
- Cryptococcosis
- Cryptogenic organizing pneumonia
- CTCF-related neurodevelopmental disorder
- Cushing disease
- Cushing Syndrome
- Cushing syndrome due to bilateral macronodular adrenocortical disease
- Cushing syndrome due to ectopic ACTH secretion
- Cushing's Disease
- Cutaneous mastocytoma
- Cutaneous mastocytosis-deafness-microtia syndrome
- Cyclothymic Disorder
- Cystic Fibrosis
- Cysticercosis
D
- D-glyceric aciduria
- Deep Vein Thrombosis
- Deep Venous Insufficiency
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- DEGCAGS syndrome
- Dehydration
- Dengue fever
- Depression
- Dermatomyositis
- Desminopathy
- Developmental and epileptic encephalopathy 122
- Developmental and epileptic encephalopathy with spike-wave activation in sleep
- Diabetes Insipidus
- Diarrhea
- Diffuse alveolar hemorrhage
- Diffuse cutaneous mastocytosis
- Distal myotilinopathy
- Distal renal tubular acidosis
- Distal Xq28 microduplication syndrome
- Diverticulitis
- Dizziness
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- Dopamine beta-hydroxylase deficiency
- DPAGT1-CDG
- DPM1-CDG
- Dravet syndrome
- Dry Eye Syndrome
- Dubowitz syndrome
- Dural sinus malformation with arteriovenous shunt
- Dursun-Ozgul neurodevelopmental syndrome
- DYRK1A-related intellectual disability syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- Dysferlin-related limb-girdle muscular dystrophy R2
E
- Eagle Syndrome
- Ear Infection (Otitis Media)
- Early infantile developmental and epileptic encephalopathy
- Ebola hemorrhagic fever
- Eisenmenger syndrome
- Emanuel syndrome
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Encephalitis lethargica
- Endocarditis
- Endometriosis
- Eosinophilic gastroenteritis
- Eosinophilic granulomatosis with polyangiitis
- Epiglottitis
- Epilepsy
- Epilepsy of infancy with migrating focal seizures
- Epilepsy with auditory features
- Epilepsy with eyelid myoclonia
- Epilepsy with myoclonic-atonic seizures
- Erdheim-Chester disease
- Erectile Dysfunction
- Esophageal Cancer
- Essential thrombocythemia
- Ethylene glycol poisoning
- Exercise-induced malignant hyperthermia
F
- Fabry disease
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- Facioscapulohumeral dystrophy
- Factor VII deficiency
- Fainting (Syncope)
- Familial cerebral cavernous malformation
- Familial cold urticaria
- Familial colorectal cancer Type X
- Familial focal epilepsy with variable foci
- Familial glucocorticoid deficiency
- Familial hyperaldosteronism type I
- Familial hyperaldosteronism type II
- Familial hyperaldosteronism type III
- Familial infantile myoclonic epilepsy
- Familial Mediterranean fever
- Familial Mediterranean fever, AR
- Familial or sporadic hemiplegic migraine
- Familial pancreatic carcinoma
- Familial thrombocytosis
- Farber disease
- Fatal familial insomnia
- Fibromyalgia
- Fifth Disease
- FLNC-related handgrip and calf weakness-distal myopathy
- Folinic acid-responsive seizures
- Food Poisoning
- Foodborne botulism
- Fragile X-associated tremor/ataxia syndrome
- Frontotemporal dementia with motor neuron disease
- Fructose-1,6-bisphosphatase deficiency
- Full NF2-related schwannomatosis
- Full schwannomatosis
- Fungal Infection
- Fungal Skin Infection
G
- Gaisböck syndrome
- Gallbladder Disease
- Gallstones
- Gastritis
- Gastroesophageal Reflux Disease
- Gastroparesis
- GATA2 deficiency spectrum
- Gaucher disease
- Generalized Anxiety Disorder
- Generalized arterial calcification of infancy
- Genetic epilepsy with febrile seizure plus
- Genetic recurrent myoglobinuria
- Genital Herpes
- Giant cell arteritis
- Gilbert Syndrome
- Gingivitis
- Gitelman syndrome
- Glanzmann thrombasthenia
- Glanzmann thrombasthenia 1
- Glanzmann thrombasthenia 2
- Glaucoma
- Glioblastoma
- Glossopharyngeal neuralgia
- Glucagonoma
- Glucose-galactose malabsorption
- Glycogen storage disease 0, muscle
- Glycogen storage disease due to acid maltase deficiency
- Glycogen storage disease due to acid maltase deficiency, infantile onset
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Glycogen storage disease due to liver phosphorylase kinase deficiency
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency
- Glycogen storage disease II
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
- GM1 gangliosidosis
- GMPPB-related limb-girdle muscular dystrophy R19
- GNE myopathy
- Gonorrhea
- Goodpasture syndrome
- Gout
- Granulomatosis with polyangiitis
- Graves Disease
- GRFoma
- Guillouet-Gordon syndrome
H
- Hallux Valgus
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Hardikar syndrome
- Hashimoto Thyroiditis
- Heart Failure
- HELLP syndrome
- Helsmoortel-van der Aa syndrome
- Hemimegalencephaly
- Hemophilia A
- Hemorrhagic fever-renal syndrome
- Hemorrhoids
- Hepatitis
- Hepatitis B
- Hepatitis C
- Hepatitis delta
- Hereditary amyloidosis with primary renal involvement
- Hereditary angioedema type 1
- Hereditary angioedema with C1Inh deficiency
- Hereditary ATTR amyloidosis
- Hereditary combined deficiency of vitamin K-dependent clotting factors
- Hereditary coproporphyria
- Hereditary fructose intolerance
- Hereditary motor and sensory neuropathy, Okinawa type
- Hereditary myopathy with early respiratory failure
- Hereditary pheochromocytoma-paraganglioma
- Hereditary spherocytosis
- Hermansky-Pudlak syndrome
- Hermansky-Pudlak syndrome 1
- Hermansky-Pudlak syndrome 7
- Herniated Disc
- Herpes simplex virus encephalitis
- Herpes Zoster
- High altitude pulmonary edema
- HIV Infection
- Homocystinuria due to cystathionine beta-synthase deficiency
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Houge-Janssens syndrome 4
- Hughes-Stovin syndrome
- Human Papillomavirus Infection
- Huntington disease
- Hutchinson-Gilford progeria syndrome
- Hyper-Igd syndrome
- Hyper-IgE recurrent infection syndrome
- Hyperammonemia due to N-acetylglutamate synthase deficiency
- Hyperimmunoglobulinemia D with periodic fever
- Hyperlipidemia
- Hyperlysinemia
- Hypermobile Ehlers-Danlos syndrome
- Hypermobility Spectrum Disorder
- Hyperopia
- Hyperparathyroidism
- Hyperparathyroidism-jaw tumor syndrome
- Hyperprolinemia type 2
- Hypertension
- Hyperthyroidism
- Hypocomplementemic urticarial vasculitis
- Hypoglycemia
- Hypoparathyroidism
- Hypotension
- Hypothyroidism
I
- IBS (Irritable Bowel Syndrome)
- ICHAD syndrome
- Idiopathic bronchiectasis
- Idiopathic chronic eosinophilic pneumonia
- Idiopathic hypereosinophilic syndrome
- Idiopathic intracranial hypertension
- Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
- IgG4-related dacryoadenitis and sialadenitis
- IgG4-related pachymeningitis
- IgG4-related retroperitoneal fibrosis
- Ileal neuroendocrine tumor
- Iliotibial Band Syndrome
- Immune-mediated necrotizing myopathy
- Immune-mediated thrombotic thrombocytopenic purpura
- Immunodeficiency 126
- Immunoglobulin A vasculitis
- Impetigo
- Infant botulism
- Infantile Krabbe disease
- Infection-related hemolytic uremic syndrome
- Infectious Mononucleosis
- Inflammatory Bowel Disease
- Inflammatory pseudotumor of the liver
- Influenza
- Inguinal Hernia
- Inhalational anthrax
- Inhalational botulism
- Inherited Creutzfeldt-Jakob disease
- Insomnia
- Insulinoma
- Intellectual disability syndrome due to a DYRK1A point mutation
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- Intellectual disability-seizures-macrocephaly-obesity syndrome
- Interstitial Cystitis
- Intertrigo
- Iron Deficiency
- Irritable Bladder
- Irritable Bowel Syndrome
- Irritable Bowel Syndrome - Constipation Predominant
- Irritable Bowel Syndrome - Diarrhea Predominant
- Isolated focal cortical dysplasia
- Isolated mesenteric vein thrombosis
- Isolated polycystic liver disease
- Isolated succinate-CoQ reductase deficiency
- Isolated thyroid-stimulating hormone deficiency
J
- Jaberi-Elahi syndrome
- Japanese encephalitis
- Jaundice
- Jeffries-Lakhani neurodevelopmental syndrome
- Juvenile absence epilepsy
- Juvenile dermatomyositis
- Juvenile polyposis syndrome
K
- Kabuki syndrome 1
- Kaposi sarcoma
- Kaposiform lymphangiomatosis
- Karayol-Borroto-Haghshenas neurodevelopmental syndrome
- Kawasaki disease
- KID syndrome
- Kidney Infection (Pyelonephritis)
- Kidney Stones
- Kikuchi-Fujimoto disease
- Kleefstra syndrome 1
- Kleefstra syndrome due to 9q34 microdeletion
- Kleine-Levin syndrome
- Kohlschutter-Tonz syndrome-like
- Krabbe disease
- Kufor-Rakeb syndrome
L
- Lafora disease
- Laing distal myopathy
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Landau-Kleffner syndrome
- Laryngitis
- Lassa fever
- Late-infantile/juvenile Krabbe disease
- Late-onset distal myopathy, Markesbery-Griggs type
- Late-onset isolated ACTH deficiency
- Lead poisoning
- Legionnaires disease
- Leigh syndrome
- Lennox-Gastaut syndrome
- Leprosy
- Leptospirosis
- Leukemia
- Lipedema
- Lipodystrophy, familial partial, type 7
- Lipoma
- Lissencephaly due to LIS1 mutation
- Listeriosis
- Liver Cancer
- Lobar holoprosencephaly
- Localized scleroderma
- Locked-In Syndrome
- Loeffler endocarditis
- Lujo hemorrhagic fever
- Lung Cancer
- Lyme disease
- Lymphangioleiomyomatosis
- Lymphatic filariasis
- Lymphoid interstitial pneumonia
- Lymphoma
- Lynch syndrome
- Lysosomal acid lipase deficiency
M
- Macular Degeneration
- Maculopapular cutaneous mastocytosis
- Majeed syndrome
- Mal de débarquement
- Malakoplakia
- Male Hypogonadism
- Malignant atrophic papulosis
- Marburg hemorrhagic fever
- Marchiafava-Bignami disease
- Mast Cell Activation Syndrome
- Mastitis
- May-Thurner Syndrome
- Measles
- Medial Tibial Stress Syndrome
- Medium chain acyl-CoA dehydrogenase deficiency
- Medulloblastoma
- MEGF10-related myopathy
- Melanoma
- MELAS
- MELAS syndrome
- Melnick-Needles syndrome
- Mendez-Johnson immunoneurologic syndrome
- Ménétrier disease
- Meniere Disease
- Meningioma
- Meningitis
- Meningococcal meningitis
- Menkes disease
- Menopause
- Mercury poisoning
- Metabolic Syndrome
- Metachromatic leukodystrophy, adult form
- Methanol poisoning
- Methotrexate toxicity
- Methylcobalamin deficiency type cblE
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephaly-lymphedema-chorioretinopathy syndrome
- Microphthalmia with linear skin defects syndrome
- Microscopic polyangiitis
- Microsporidiosis
- Midline interhemispheric variant of holoprosencephaly
- Migraine
- Miller Fisher syndrome
- Mirizzi syndrome
- Mitochondrial complex IV deficiency, nuclear type 2
- Mitochondrial DNA depletion syndrome, myopathic form
- Mitochondrial DNA-associated Leigh syndrome
- Mitochondrial DNA-related cardiomyopathy and hearing loss
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial trifunctional protein deficiency
- Mixed connective tissue disease
- Miyoshi myopathy
- Moderate hemophilia A
- Moebius Syndrome
- Monosomy X syndrome
- Morgagni-Stewart-Morel syndrome
- Morimoto-Ryu-Malicdan neuromuscular syndrome
- Mosaic monosomy X syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Moyamoya Disease
- MRSA Infection
- Muckle-Wells syndrome
- Mucopolysaccharidosis type 3
- Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- Multiple acyl-CoA dehydrogenase deficiency
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2
- Multiple Sclerosis
- Mumps
- Muscular dystrophy, limb-girdle, type 1E
- Myasthenia gravis
- Mycoplasma Genitalium Infection
- Myelodysplastic neoplasm with increased blasts
- MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Myocardial Infarction
- Myopathy and diabetes mellitus
- Myopathy, distal, 1
N
- NAD(P)HX dehydratase deficiency
- Nasal Polyps
- Necrotizing enterocolitis
- Nemaline myopathy 3
- Netherton syndrome
- Neuroblastoma
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Neuroendocrine neoplasm of appendix
- Neuroendocrine tumor of anal canal
- Neuroendocrine tumor of stomach
- Neuroendocrine tumor of the rectum
- Neurofibromatosis Type 1
- Neuroleptic malignant syndrome
- Neutral lipid storage disease with myopathy
- New-onset refractory status epilepticus
- NF2-related schwannomatosis
- Niemann-Pick disease type C
- Nil-Deshwar neurodevelopmental syndrome
- Nipah virus disease
- NMDA receptor encephalitis
- Nocardiosis
- Nodular non-suppurative panniculitis
- Non-Alcoholic Fatty Liver Disease
- Non-functioning paraganglioma
- Non-functioning pituitary adenoma
- Non-insulinoma pancreatogenous hypoglycemia syndrome
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Noonan syndrome 13
- Norrie disease
O
- Obesity
- Obsessive Compulsive Disorder
- Obstructive Sleep Apnea
- Oculocerebrorenal syndrome of Lowe
- Oculopharyngeal muscular dystrophy
- Oculopharyngodistal myopathy
- Ogden syndrome
- Ogilvie Syndrome
- Omenn syndrome
- Optic pathway glioma
- Ornithine transcarbamylase deficiency
- Osteoarthritis
- Osteoarthritis of the Hip
- Osteoarthritis of the Knee
- Osteochondroma
- Osteogenesis imperfecta
- Osteomyelitis
- Osteoporosis
- Otitis Media
- Ovarian Cancer
- Overactive Bladder
P
- Palmoplantar keratoderma-esophageal carcinoma syndrome
- Palpitations
- Pan-Chung-Bellen syndrome
- Pancreatic Cancer
- Pancreatic triacylglycerol lipase deficiency
- Pancreatitis
- PANDAS
- Panic Attacks
- Panic Disorder
- Parathyroid carcinoma
- Parkes Weber syndrome
- Parkinson Disease
- Parkinson disease 26, autosomal dominant, susceptibility to
- Paroxysmal hemicrania
- Paroxysmal nocturnal hemoglobinuria
- Patau Syndrome
- Pauci-immune glomerulonephritis
- PCDH19 clustering epilepsy
- Pediatric systemic lupus erythematosus
- Pediatric-onset Graves disease
- Pelizaeus-Merzbacher spectrum disorder
- Pellagra
- Peptic Ulcer Disease
- Peripartum cardiomyopathy
- Peripheral Artery Disease
- Peripheral primitive neuroectodermal tumor
- PFAPA syndrome
- Pfeiffer Syndrome
- Phelan-McDermid syndrome
- Phimosis
- Pilonidal Cyst
- Piriformis Syndrome
- Pitt-Hopkins like syndrome 1
- Pituitary apoplexy
- Pityriasis Rosea
- Plague
- Plantar Fasciitis
- Plectin-related limb-girdle muscular dystrophy R17
- Pleurisy
- PMM2-CDG
- PMM2-congenital disorder of glycosylation
- Pneumonia
- Pneumothorax
- POEMS syndrome
- Poliomyelitis
- Polyarteritis nodosa
- Polycystic Ovary Syndrome
- Polycythemia vera
- Polymyalgia Rheumatica
- Polymyositis
- Popov-Chang syndrome
- Porphyria due to ALA dehydratase deficiency
- Post Traumatic Stress Disorder
- Post-transplant lymphoproliferative disease
- Postencephalitic parkinsonism
- Postinfectious vasculitis
- Postorgasmic illness syndrome
- Postpoliomyelitis syndrome
- Postsynaptic congenital myasthenic syndrome
- Postural Orthostatic Tachycardia Syndrome
- PPFIA3-related neurodevelopmental disorder
- PPoma
- Prader-Willi syndrome
- Precordial Catch Syndrome
- Prediabetes
- Preeclampsia
- Premenstrual Syndrome
- Presynaptic congenital myasthenic syndromes
- Primary angiitis of the central nervous system
- Primary familial polycythemia
- Primary hepatic neuroendocrine carcinoma
- Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- Primary sclerosing cholangitis
- Primary Sjögren disease
- Primary unilateral adrenal hyperplasia
- Progeria-short stature-pigmented nevi syndrome
- Progressive external ophthalmoplegia-myopathy-emaciation syndrome
- Progressive multifocal leukoencephalopathy
- Prolactinoma
- Prostate Cancer
- Prostatitis
- Proximal myotonic myopathy
- Proximal spinal muscular atrophy
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1C
- Psoriasis
- Pulmonary alveolar microlithiasis
- Pulmonary arteriovenous malformation
- Pulmonary Embolism
- Pulmonary non-tuberculous mycobacterial infection
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Pure mitochondrial myopathy
- Pyridoxine-dependent-developmental and epileptic encephalopathy
Q
R
- Rabies
- Radio-Tartaglia syndrome
- Rajab interstitial lung disease with brain calcifications 1
- Rasmussen subacute encephalitis
- Rat-bite fever
- Reactive arthritis
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Recurrent respiratory papillomatosis
- Relapsing fever
- Relapsing polychondritis
- Renal nutcracker syndrome
- ReNU syndrome
- Respiratory bronchiolitis-interstitial lung disease syndrome
- Restless Legs Syndrome
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Reversible cerebral vasoconstriction syndrome
- Reynolds syndrome
- Rhabdoid tumor
- Rheumatic fever
- Rheumatoid Arthritis
- Riboflavin transporter deficiency
- Rift valley fever
- Ringworm
- RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
- Rosacea
- Rotator Cuff Injury
- Rubinstein-Taybi syndrome 1
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
S
- Sacroiliitis
- Saethre-Chotzen syndrome
- Sandhoff disease
- Sandhoff disease, juvenile form
- Sandifer Syndrome
- SAPHO syndrome
- Sarcoidosis
- Scabies
- Schilder disease
- Schimke immuno-osseous dysplasia
- Schnitzler syndrome
- Sciatica
- Scleromyxedema
- Scorpion envenomation
- Scrub typhus
- Seasonal Affective Disorder
- Secondary hypoparathyroidism due to impaired parathormon secretion
- Secondary intestinal lymphangiectasia
- Self-limited epilepsy with centrotemporal spikes
- Self-limited infantile epilepsy
- Self-limited neonatal epilepsy
- Self-limited neonatal-infantile epilepsy
- Semilobar holoprosencephaly
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Sepsis
- Sepsis in premature infants
- Serotonin syndrome
- Severe disseminated cytomegalovirus infection in immunocompetent patients
- Severe generalized junctional epidermolysis bullosa
- Severe hemophilia A
- Sheehan syndrome
- Shiga toxin-associated hemolytic uremic syndrome
- Shigellosis
- Shingles
- Shortness of Breath
- Shwachman-Diamond Syndrome
- Sickle Cell Disease
- Simple cryoglobulinemia
- Sinus Infection
- Sjogren Syndrome
- Slipping Rib Syndrome
- Small Intestinal Bacterial Overgrowth
- Smith-Lemli-Opitz syndrome
- Smith-Magenis syndrome
- Snakebite envenomation
- Sneddon syndrome
- Solar urticaria
- Solitary fibrous tumor
- Somatomammotropinoma
- Somatostatinoma
- Sotos syndrome
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Specific Phobia
- Spinal fast-flow vascular malformation
- Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Spinal Stenosis
- Spinocerebellar ataxia type 10
- Spinocerebellar ataxia type 36
- Spinocerebellar ataxia type 42
- Spondyloepiphyseal dysplasia tarda
- Spontaneous periodic hypothermia
- Sporadic infantile bilateral striatal necrosis
- Sporadic pheochromocytoma/secreting paraganglioma
- Staphylococcal necrotizing pneumonia
- Steinert myotonic dystrophy
- Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- Stevens-Johnson syndrome
- Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- Stolerman neurodevelopmental syndrome
- Stomach Cancer
- Stormorken syndrome
- Streptococcal Pharyngitis
- Stroke
- STXBP1-related encephalopathy
- SUNCT syndrome
- Superficial siderosis
- Supraventricular Tachycardia
- Susac syndrome
- Swimmer's Ear
- Symptomatic form of HFE-related hemochromatosis
- Synaptic congenital myasthenic syndrome
- Syphilis
- Systemic capillary leak syndrome
- Systemic lupus erythematosus
- Systemic mastocytosis with associated hematologic neoplasm
- Systemic sclerosis
T
- Takayasu arteritis
- Tako-Tsubo cardiomyopathy
- Tay-Sachs disease
- Tayoun-Maawali syndrome
- Temporomandibular Disorder
- Tennis Elbow
- Tension Headache
- Tessadori-Van Haaften neurodevelopmental syndrome 3
- Testicular Cancer
- Thalassemia
- Thrombotic thrombocytopenic purpura
- Thrush (Candidiasis)
- Thymic carcinoma
- Thymoma
- Thyroid Cancer
- Thyroid ectopia
- Thyroid Nodules
- Thyrotoxic periodic paralysis
- Tick-borne encephalitis
- Tinea Cruris
- Tinnitus
- TNF receptor 1-associated periodic fever syndrome
- Tonsillitis
- Toxic epidermal necrolysis
- Tracheobronchopathia osteochondroplastica
- Transient Ischemic Attack
- Treacher Collins Syndrome
- Trichinellosis
- Trichomoniasis
- Trigeminal neuralgia
- Triple A syndrome
- TSH-secreting pituitary adenoma
- Tuberculosis
- Tuberous sclerosis complex
- Tubulointerstitial nephritis and uveitis syndrome
- Tularemia
- Tumor necrosis factor receptor 1 associated periodic syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Type 1 Diabetes
- Type 2 Diabetes
- Typhoid
- Typical nemaline myopathy
U
- Unilateral focal polymicrogyria
- Unilateral polymicrogyria
- Urinary Tract Infection
- Urticaria
- Uterine Fibroids
- Uveitis
V
- Vaginismus
- Variegate porphyria
- Vascular Ehlers-Danlos syndrome
- Vasculitis
- Vasculopathy, retinal, with cerebral leukodystrophy
- Vertigo
- VIPoma
- VISS syndrome
- Visual snow syndrome
- Vitamin B12 Deficiency
- Vitamin D Deficiency
- Vocal cord and pharyngeal distal myopathy
- Vogt-Koyanagi-Harada disease
- Von Hippel-Lindau disease
W
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- Waldenström macroglobulinemia
- Whipple disease
- White-Sutton syndrome
- Whooping Cough
- Wiedemann-Rautenstrauch syndrome
- Williams syndrome
- Wilson disease
- Wiskott-Aldrich syndrome
- Wound botulism
X
- X-linked adrenal hypoplasia congenita
- X-linked agammaglobulinemia
- X-linked alpha-thalassemia-intellectual disability syndrome
- X-linked Alport syndrome-diffuse leiomyomatosis
- X-linked cerebral adrenoleukodystrophy
- X-linked diffuse leiomyomatosis-Alport syndrome
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- X-linked intellectual disability, Cantagrel type
- Xeroderma pigmentosum
- Xia-Gibbs syndrome
- Xq28 (MECP2) duplication