Complete List of Conditions
Browse 1208 conditions. Each page explains what the condition is, the symptoms it is associated with, and the tests used to investigate it.
1208 conditions shown. Clear filters.
17q11 microdeletion syndrome
17q11 microdeletion syndrome is a medical condition that may be associated with various symptoms and signs....
1p36 deletion syndrome
1p36 deletion syndrome is a medical condition that may be associated with various symptoms and signs....
22q11.2 deletion syndrome
22q11.2 deletion syndrome is a medical condition that may be associated with various symptoms and signs....
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaric aciduria is a medical condition that may be associated with various symptoms and signs....
3-methylcrotonyl-CoA carboxylase 1 deficiency
Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene....
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 8 is a medical condition that may be associated with various symptoms and signs....
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form is a medical condition that may be associated with ...
AA amyloidosis
AA amyloidosis is a medical condition that may be associated with various symptoms and signs....
AGel amyloidosis
AGel amyloidosis is a medical condition that may be associated with various symptoms and signs....
AL amyloidosis
AL amyloidosis is a medical condition that may be associated with various symptoms and signs....
Abetalipoproteinemia
Abetalipoproteinemia is a medical condition that may be associated with various symptoms and signs....
Acne Vulgaris
A common skin condition involving blocked hair follicles, pimples, blackheads, and cysts, most often during adolescence....
Acoustic Neuroma
A non-cancerous tumor on the vestibulocochlear nerve causing hearing loss, tinnitus, and balance problems....
Acquired aneurysmal subarachnoid hemorrhage
Acquired aneurysmal subarachnoid hemorrhage is a medical condition that may be associated with various symptoms and sign...
Acquired methemoglobinemia
Acquired methemoglobinemia is a medical condition that may be associated with various symptoms and signs....
Acquired von Willebrand syndrome
Acquired von Willebrand syndrome is a medical condition that may be associated with various symptoms and signs....
Acromegaly
Acromegaly is a medical condition that may be associated with various symptoms and signs....
Acute adrenal insufficiency
Acute adrenal insufficiency is a medical condition that may be associated with various symptoms and signs....
Acute disseminated encephalomyelitis
Acute disseminated encephalomyelitis is a medical condition that may be associated with various symptoms and signs....
Acute intermittent porphyria
Acute intermittent porphyria is a medical condition that may be associated with various symptoms and signs....
Acute interstitial pneumonia
Acute interstitial pneumonia is a medical condition that may be associated with various symptoms and signs....
Acute liver failure
Acute liver failure is a medical condition that may be associated with various symptoms and signs....
Acute promyelocytic leukemia
Acute promyelocytic leukemia is a medical condition that may be associated with various symptoms and signs....
Acute radiation syndrome
Acute radiation syndrome is a medical condition that may be associated with various symptoms and signs....
Acute transverse myelitis
Acute transverse myelitis is a medical condition that may be associated with various symptoms and signs....
Addison disease
Addison disease is a medical condition that may be associated with various symptoms and signs....
Adenylosuccinate synthetase-like 1-related distal myopathy
Adenylosuccinate synthetase-like 1-related distal myopathy is a medical condition that may be associated with various sy...
Adiposis dolorosa
Adiposis dolorosa is a medical condition that may be associated with various symptoms and signs....
Adrenal Insufficiency
A condition in which the adrenal glands do not produce enough cortisol, causing fatigue, low blood pressure, and weaknes...
Adrenocortical carcinoma
Adrenocortical carcinoma is a medical condition that may be associated with various symptoms and signs....
Adrenocortical carcinoma with pure aldosterone hypersecretion
Adrenocortical carcinoma with pure aldosterone hypersecretion is a medical condition that may be associated with various...
Adult-onset Still disease
Adult-onset Still disease is a medical condition that may be associated with various symptoms and signs....
Adult-onset autosomal dominant leukodystrophy
Adult-onset autosomal dominant leukodystrophy is a medical condition that may be associated with various symptoms and si...
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a medical condition that may be ...
Adult-onset distal myopathy due to VCP mutation
Adult-onset distal myopathy due to VCP mutation is a medical condition that may be associated with various symptoms and ...
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is a medical condition that may be asso...
African trypanosomiasis
African trypanosomiasis is a medical condition that may be associated with various symptoms and signs....
Age-Related Macular Degeneration
A progressive eye disease affecting the macula that causes central vision loss, especially in older adults....
Aggressive systemic mastocytosis
Aggressive systemic mastocytosis is a medical condition that may be associated with various symptoms and signs....
Aicardi-Goutieres syndrome 7
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene....
Aicardi-Goutieres syndrome 9
A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients...
Aicardi-Goutières syndrome
Aicardi-Goutières syndrome is a medical condition that may be associated with various symptoms and signs....
Alacrimia-choreoathetosis-liver dysfunction syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome is a medical condition that may be associated with various symptoms...
Alexander disease
Alexander disease is a medical condition that may be associated with various symptoms and signs....
Allergic Asthma
Asthma triggered by allergens such as pollen, dust mites, or pet dander....
Allergic Rhinitis
Inflammation of the nasal passages due to allergens such as pollen, dust mites, or pet dander, causing sneezing, congest...
Alobar holoprosencephaly
Alobar holoprosencephaly is a medical condition that may be associated with various symptoms and signs....
Alpha-B crystallin-related late-onset myopathy
Alpha-B crystallin-related late-onset myopathy is a medical condition that may be associated with various symptoms and s...
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency is a medical condition that may be associated with various symptoms and signs...
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 1 is a medical condition that may be associated with various symptoms an...
Alpha-mannosidosis, infantile form
Alpha-mannosidosis, infantile form is a medical condition that may be associated with various symptoms and signs....
Alport syndrome
Alport syndrome is a medical condition that may be associated with various symptoms and signs....
Alstrom syndrome
A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulin...
Alström syndrome
Alström syndrome is a medical condition that may be associated with various symptoms and signs....
Alternating hemiplegia of childhood
Alternating hemiplegia of childhood is a medical condition that may be associated with various symptoms and signs....
Alveolar echinococcosis
Alveolar echinococcosis is a medical condition that may be associated with various symptoms and signs....
Alzheimer Disease
A progressive neurodegenerative disease and the most common cause of dementia, causing memory loss and cognitive decline...
American trypanosomiasis
American trypanosomiasis is a medical condition that may be associated with various symptoms and signs....
Amoebiasis due to Entamoeba histolytica
Amoebiasis due to Entamoeba histolytica is a medical condition that may be associated with various symptoms and signs....
Amoebiasis due to free-living amoebae
Amoebiasis due to free-living amoebae is a medical condition that may be associated with various symptoms and signs....
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a medical condition that may be associated with various symptoms and signs....
Anal Fissure
A small tear in the lining of the anus, usually caused by passing hard stool, causing pain and bleeding....
Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma is a medical condition that may be associated with various symptoms and signs....
Anemia
A condition in which the blood has a lower than normal number of red blood cells or hemoglobin, reducing oxygen delivery...
Angelman syndrome
Angelman syndrome is a medical condition that may be associated with various symptoms and signs....
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Angelman syndrome due to paternal uniparental disomy of chromosome 15 is a medical condition that may be associated with...
Angiostrongyliasis
Angiostrongyliasis is a medical condition that may be associated with various symptoms and signs....
Ankylosing Spondylitis
A chronic inflammatory disease primarily affecting the spine and sacroiliac joints, causing back pain and stiffness....
Anoctamin-5-related limb-girdle muscular dystrophy R12
Anoctamin-5-related limb-girdle muscular dystrophy R12 is a medical condition that may be associated with various sympto...
Anti-glomerular basement membrane disease
Anti-glomerular basement membrane disease is a medical condition that may be associated with various symptoms and signs....
Antisynthetase syndrome
Antisynthetase syndrome is a medical condition that may be associated with various symptoms and signs....
Anxiety Disorder
A group of mental health conditions characterized by excessive worry, fear, or nervousness that interferes with daily li...
Anxiety and Panic
Persistent anxiety and panic symptoms that affect daily function and well-being....
Aortic Aneurysm
Abnormal bulging of the aorta wall that can rupture, a life-threatening emergency....
Appendicitis
Inflammation of the appendix, a medical emergency, causing pain that migrates to the lower right abdomen....
Arachnoid cyst
Arachnoid cyst is a medical condition that may be associated with various symptoms and signs....
Arachnoiditis
Arachnoiditis is a medical condition that may be associated with various symptoms and signs....
Arboleda-Tham syndrome
Arboleda-Tham syndrome is a medical condition that may be associated with various symptoms and signs....
Arginine vasopressin deficiency
Arginine vasopressin deficiency is a medical condition that may be associated with various symptoms and signs....
Argininosuccinic aciduria
Argininosuccinic aciduria is a medical condition that may be associated with various symptoms and signs....
Arnold-Chiari malformation type I
Arnold-Chiari malformation type I is a medical condition that may be associated with various symptoms and signs....
Aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency is a medical condition that may be associated with various symptoms and s...
Arrhythmia
An irregular or abnormal heart rhythm that can range from harmless to life-threatening....
Aspergillosis
Aspergillosis is a medical condition that may be associated with various symptoms and signs....
Asthma
A chronic inflammatory condition of the airways that causes episodes of wheezing, breathlessness, chest tightness, and c...
Atherosclerosis
A disease in which plaque builds up inside arteries, narrowing them and reducing blood flow, raising the risk of heart a...
Athyreosis
Athyreosis is a medical condition that may be associated with various symptoms and signs....
Atopic Dermatitis
A chronic inflammatory skin condition (eczema) causing itchy, red, dry, and cracked skin....
Atrial Fibrillation
An irregular and often rapid heart rhythm that increases the risk of stroke, heart failure, and other heart complication...
Attention Deficit Hyperactivity Disorder
A neurodevelopmental disorder characterized by inattention, hyperactivity, and impulsivity....
Autism Spectrum Disorder
A neurodevelopmental condition affecting communication, social interaction, and behavior....
Autoerythrocyte sensitization syndrome
Autoerythrocyte sensitization syndrome is a medical condition that may be associated with various symptoms and signs....
Autoimmune hemolytic anemia, warm type
Autoimmune hemolytic anemia, warm type is a medical condition that may be associated with various symptoms and signs....
Autoimmune hepatitis
Autoimmune hepatitis is a medical condition that may be associated with various symptoms and signs....
Autoimmune hypoparathyroidism
Autoimmune hypoparathyroidism is a medical condition that may be associated with various symptoms and signs....
Autoimmune pulmonary alveolar proteinosis
Autoimmune pulmonary alveolar proteinosis is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 is a medical condition that may be associated with various sympt...
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2Y is a medical condition that may be associated with various sympto...
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2Z is a medical condition that may be associated with various sympto...
Autosomal dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, classic form is a medical condition that may be associated with various symptoms and s...
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with various sympt...
Autosomal dominant spastic paraplegia type 9A
Autosomal dominant spastic paraplegia type 9A is a medical condition that may be associated with various symptoms and si...
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness is a medical condition that may be associated with vario...
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a medical condition that may be associated with various...
Autosomal recessive distal nebulin myopathy
Autosomal recessive distal nebulin myopathy is a medical condition that may be associated with various symptoms and sign...
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form is a medical condition that may be a...
Autosomal recessive progressive external ophthalmoplegia
Autosomal recessive progressive external ophthalmoplegia is a medical condition that may be associated with various symp...
Avian influenza
Avian influenza is a medical condition that may be associated with various symptoms and signs....
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations is a medical condition that may be associat...
Babesiosis
Babesiosis is a medical condition that may be associated with various symptoms and signs....
Bacterial toxic-shock syndrome
Bacterial toxic-shock syndrome is a medical condition that may be associated with various symptoms and signs....
Bartter disease type 1
Bartter disease type 1 is a medical condition that may be associated with various symptoms and signs....
Bartter disease type 2
Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene....
Behçet disease
Behçet disease is a medical condition that may be associated with various symptoms and signs....
Bell Palsy
Sudden weakness or paralysis on one side of the face, often temporary, caused by inflammation of the facial nerve....
Benign Prostatic Hyperplasia
Non-cancerous enlargement of the prostate gland that can cause urinary symptoms in older men....
Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis is a medical condition that may be associated with various symptoms and signs....
Bernard-Soulier syndrome
Bernard-Soulier syndrome is a medical condition that may be associated with various symptoms and signs....
Bernard-Soulier syndrome
Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macr...
Beta-ketothiolase deficiency
Beta-ketothiolase deficiency is a medical condition that may be associated with various symptoms and signs....
Bethlem muscular dystrophy
Bethlem muscular dystrophy is a medical condition that may be associated with various symptoms and signs....
Bethlem myopathy 1A
Bethlem myopathy 1A is a medical condition that may be associated with various symptoms and signs....
Bickerstaff brainstem encephalitis
Bickerstaff brainstem encephalitis is a medical condition that may be associated with various symptoms and signs....
Bilateral generalized polymicrogyria
Bilateral generalized polymicrogyria is a medical condition that may be associated with various symptoms and signs....
Bilateral perisylvian polymicrogyria
Bilateral perisylvian polymicrogyria is a medical condition that may be associated with various symptoms and signs....
Bilateral polymicrogyria
Bilateral polymicrogyria is a medical condition that may be associated with various symptoms and signs....
Bilateral striopallidodentate calcinosis
Bilateral striopallidodentate calcinosis is a medical condition that may be associated with various symptoms and signs....
Biotinidase deficiency
Biotinidase deficiency is a medical condition that may be associated with various symptoms and signs....
Bipolar Disorder
A mood disorder characterized by alternating periods of mania/hypomania and depression....
Blau syndrome
Blau syndrome is a medical condition that may be associated with various symptoms and signs....
Bleeding disorder in hemophilia A carriers
Bleeding disorder in hemophilia A carriers is a medical condition that may be associated with various symptoms and signs...
Botulism
Botulism is a medical condition that may be associated with various symptoms and signs....
Boutonneuse fever
Boutonneuse fever is a medical condition that may be associated with various symptoms and signs....
Breast Cancer
Cancer that forms in breast tissue. Early detection through screening improves outcomes....
Bronchial neuroendocrine tumor
Bronchial neuroendocrine tumor is a medical condition that may be associated with various symptoms and signs....
Bronchitis
Inflammation of the bronchial tubes, usually viral, causing a productive cough that can last several weeks....
Bronchogenic cyst
Bronchogenic cyst is a medical condition that may be associated with various symptoms and signs....
Brown-Vialetto-van Laere syndrome 1
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene....
Brown-Vialetto-van Laere syndrome 2
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene....
Brucellosis
Brucellosis is a medical condition that may be associated with various symptoms and signs....
Bursitis
Inflammation of the fluid-filled sacs (bursae) that cushion joints, causing pain and swelling, often in the shoulder, el...
CACH syndrome
CACH syndrome is a medical condition that may be associated with various symptoms and signs....
CAR T cell therapy-associated cytokine release syndrome
CAR T cell therapy-associated cytokine release syndrome is a medical condition that may be associated with various sympt...
CDKL5-deficiency disorder
CDKL5-deficiency disorder is a medical condition that may be associated with various symptoms and signs....
CINCA syndrome
CINCA syndrome is a medical condition that may be associated with various symptoms and signs....
CLCN4-related X-linked intellectual disability syndrome
CLCN4-related X-linked intellectual disability syndrome is a medical condition that may be associated with various sympt...
CODAS syndrome
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skel...
COPD
A group of progressive lung diseases, including emphysema and chronic bronchitis, that cause airflow obstruction and bre...
CTCF-related neurodevelopmental disorder
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellect...
Carey-Fineman-Ziter syndrome 1
A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with...
Carney triad
Carney triad is a medical condition that may be associated with various symptoms and signs....
Caroli disease
Caroli disease is a medical condition that may be associated with various symptoms and signs....
Caroli syndrome
Caroli syndrome is a medical condition that may be associated with various symptoms and signs....
Carpal Tunnel Syndrome
Compression of the median nerve in the wrist causing numbness, tingling, and weakness in the hand....
Castleman disease
Castleman disease is a medical condition that may be associated with various symptoms and signs....
Cataracts
Clouding of the eye's lens that causes blurry vision, glare, and difficulty seeing at night....
Celiac Disease
An autoimmune condition triggered by gluten that damages the small intestine lining, causing malabsorption and digestive...
Cellulitis
A bacterial skin infection causing redness, swelling, warmth, and pain, which can spread and become serious....
Centronuclear myopathy 1
Centronuclear myopathy 1 is a medical condition that may be associated with various symptoms and signs....
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy is a medical condition that may be ass...
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 g...
Charcot-Marie-Tooth disease axonal type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a periph...
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1E is a medical condition that may be associated with various symptoms and signs....
Charcot-Marie-Tooth disease type 1E
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with ...
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1F is a medical condition that may be associated with various symptoms and signs....
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4A is a medical condition that may be associated with various symptoms and signs....
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B2 is a medical condition that may be associated with various symptoms and signs....
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C is a medical condition that may be associated with various symptoms and signs....
Charcot-Marie-Tooth disease, axonal, Type 2HH
Charcot-Marie-Tooth disease, axonal, Type 2HH is a medical condition that may be associated with various symptoms and si...
Charcot-Marie-Tooth disease, axonal, type 2KK
Charcot-Marie-Tooth disease, axonal, type 2KK is a medical condition that may be associated with various symptoms and si...
Charcot-Marie-tooth disease, axonal, type 2JJ
Charcot-Marie-tooth disease, axonal, type 2JJ is a medical condition that may be associated with various symptoms and si...
Chest Pain
Discomfort or pain in the chest that can range from minor muscle strain to a life-threatening heart condition....
Chiari malformation type I
Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the c...
Chickenpox
A highly contagious viral infection causing an itchy, blister-like rash, most common in children....
Chikungunya
Chikungunya is a medical condition that may be associated with various symptoms and signs....
Childhood absence epilepsy
Childhood absence epilepsy is a medical condition that may be associated with various symptoms and signs....
Chlamydia Infection
A common sexually transmitted bacterial infection that often causes no symptoms but can lead to pelvic pain, discharge, ...
Cholera
Cholera is a medical condition that may be associated with various symptoms and signs....
Cholestasis-lymphedema syndrome
Cholestasis-lymphedema syndrome is a medical condition that may be associated with various symptoms and signs....
Choreoacanthocytosis
Choreoacanthocytosis is a medical condition that may be associated with various symptoms and signs....
Christianson syndrome
Christianson syndrome is a medical condition that may be associated with various symptoms and signs....
Chronic Cough
A cough lasting more than 8 weeks in adults, which can result from many underlying causes....
Chronic Fatigue Syndrome
A disorder characterized by profound fatigue that does not improve with rest and is worsened by physical or mental activ...
Chronic Kidney Disease
Progressive loss of kidney function over time, often caused by diabetes and hypertension, leading to buildup of waste pr...
Chronic Pancreatitis
Long-term inflammation of the pancreas that damages the organ over time, causing recurring abdominal pain and digestive ...
Chronic Sinusitis
Inflammation of the sinuses lasting more than 12 weeks, causing nasal congestion, facial pressure, and postnasal drip....
Chronic graft versus host disease
Chronic graft versus host disease is a medical condition that may be associated with various symptoms and signs....
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis is a medical condition that may be associa...
Chédiak-Higashi syndrome
Chédiak-Higashi syndrome is a medical condition that may be associated with various symptoms and signs....
Citrullinemia type II
Citrullinemia type II is a medical condition that may be associated with various symptoms and signs....
Classic Hodgkin lymphoma
Classic Hodgkin lymphoma is a medical condition that may be associated with various symptoms and signs....
Classic galactosemia
Classic galactosemia is a medical condition that may be associated with various symptoms and signs....
Classic mycosis fungoides
Classic mycosis fungoides is a medical condition that may be associated with various symptoms and signs....
Classical Ehlers-Danlos syndrome
Classical Ehlers-Danlos syndrome is a medical condition that may be associated with various symptoms and signs....
Classical-like Ehlers-Danlos syndrome type 1
Classical-like Ehlers-Danlos syndrome type 1 is a medical condition that may be associated with various symptoms and sig...
Cluster Headache
Severe, recurring headaches that occur in cycles, typically centered on one eye with tearing and nasal congestion....
Cocaine intoxication
Cocaine intoxication is a medical condition that may be associated with various symptoms and signs....
Coccidioidomycosis
Coccidioidomycosis is a medical condition that may be associated with various symptoms and signs....
Cockayne syndrome
Cockayne syndrome is a medical condition that may be associated with various symptoms and signs....
Cockayne syndrome type 1
Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8....
Cockayne syndrome type 1
Cockayne syndrome type 1 is a medical condition that may be associated with various symptoms and signs....
Cockayne syndrome type 2
Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6....
Cockayne syndrome type 3
Cockayne syndrome type 3 is a medical condition that may be associated with various symptoms and signs....
Coenzyme Q10 deficiency, primary, 7
Coenzyme Q10 deficiency, primary, 7 is a medical condition that may be associated with various symptoms and signs....
Coffin-Siris syndrome 12
Coffin-Siris syndrome 12 is a medical condition that may be associated with various symptoms and signs....
Coffin-Siris syndrome 6
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene....
Cold agglutinin disease
Cold agglutinin disease is a medical condition that may be associated with various symptoms and signs....
Colon Cancer
Cancer of the colon or rectum, often developing from polyps, which can cause changes in bowel habits and blood in stool....
Colorectal Cancer
Cancer of the colon or rectum. Screening can detect it early when treatment is most effective....
Combined deficiency of factor V and factor VIII
Combined deficiency of factor V and factor VIII is a medical condition that may be associated with various symptoms and ...
Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic acidemia is a medical condition that may be associated with various symptoms and sign...
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 27 is a medical condition that may be associated with various symptoms an...
Common Cold
A mild viral infection of the nose and throat causing runny nose, congestion, sneezing, and sore throat....
Congenital Gerbode defect
Congenital Gerbode defect is a medical condition that may be associated with various symptoms and signs....
Congenital alpha2-antiplasmin deficiency
Congenital alpha2-antiplasmin deficiency is a medical condition that may be associated with various symptoms and signs....
Congenital factor II deficiency
Congenital factor II deficiency is a medical condition that may be associated with various symptoms and signs....
Congenital factor V deficiency
Congenital factor V deficiency is a medical condition that may be associated with various symptoms and signs....
Congenital factor VII deficiency
Congenital factor VII deficiency is a medical condition that may be associated with various symptoms and signs....
Congenital factor X deficiency
Congenital factor X deficiency is a medical condition that may be associated with various symptoms and signs....
Congenital factor XIII deficiency
Congenital factor XIII deficiency is a medical condition that may be associated with various symptoms and signs....
Congenital fiber-type disproportion myopathy
Congenital fiber-type disproportion myopathy is a medical condition that may be associated with various symptoms and sig...
Congenital fibrinogen deficiency
Congenital fibrinogen deficiency is a medical condition that may be associated with various symptoms and signs....
Congenital hyperinsulinism due to HNF4A deficiency
Congenital hyperinsulinism due to HNF4A deficiency is a medical condition that may be associated with various symptoms a...
Congenital multicore myopathy with external ophthalmoplegia
Congenital multicore myopathy with external ophthalmoplegia is a medical condition that may be associated with various s...
Congenital myasthenic syndrome
Congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs....
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital plasminogen activator inhibitor type 1 deficiency is a medical condition that may be associated with various ...
Congenital sucrase-isomaltase deficiency
Congenital sucrase-isomaltase deficiency is a medical condition that may be associated with various symptoms and signs....
Congenital tracheomalacia
Congenital tracheomalacia is a medical condition that may be associated with various symptoms and signs....
Conjunctivitis
Inflammation of the conjunctiva (pink eye) caused by infection or allergy, causing redness, itching, and discharge....
Constipation
Infrequent or difficult bowel movements, often caused by diet, dehydration, medications, or underlying conditions....
Contact Dermatitis
A skin reaction caused by contact with an irritant or allergen, causing redness, itching, and sometimes blistering....
Coproporphyria
Coproporphyria is a medical condition that may be associated with various symptoms and signs....
Cornelia de Lange syndrome 1
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene....
Cornelia de Lange syndrome 7
Cornelia de Lange syndrome 7 is a medical condition that may be associated with various symptoms and signs....
Coronary Artery Disease
Narrowing of the coronary arteries by plaque, reducing blood flow to the heart muscle and causing chest pain, shortness ...
Craniofaciofrontodigital syndrome
Craniofaciofrontodigital syndrome is a medical condition that may be associated with various symptoms and signs....
Crigler-Najjar syndrome
Crigler-Najjar syndrome is a medical condition that may be associated with various symptoms and signs....
Crimean-Congo hemorrhagic fever
Crimean-Congo hemorrhagic fever is a medical condition that may be associated with various symptoms and signs....
Cronkhite-Canada syndrome
Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of n...
Cryoglobulinemic vasculitis
Cryoglobulinemic vasculitis is a medical condition that may be associated with various symptoms and signs....
Cryptococcosis
Cryptococcosis is a medical condition that may be associated with various symptoms and signs....
Cryptogenic organizing pneumonia
Cryptogenic organizing pneumonia is a medical condition that may be associated with various symptoms and signs....
Cushing Syndrome
A condition of excess cortisol in the body causing weight gain, high blood pressure, and a rounded face....
Cushing disease
Cushing disease is a medical condition that may be associated with various symptoms and signs....
Cushing syndrome due to bilateral macronodular adrenocortical disease
Cushing syndrome due to bilateral macronodular adrenocortical disease is a medical condition that may be associated with...
Cushing syndrome due to ectopic ACTH secretion
Cushing syndrome due to ectopic ACTH secretion is a medical condition that may be associated with various symptoms and s...
Cutaneous mastocytoma
Cutaneous mastocytoma is a medical condition that may be associated with various symptoms and signs....
Cutaneous mastocytosis-deafness-microtia syndrome
Cutaneous mastocytosis-deafness-microtia syndrome is a medical condition that may be associated with various symptoms an...
Cystic Fibrosis
A genetic disorder that causes thick, sticky mucus to build up in the lungs, pancreas, and other organs, leading to brea...
Cysticercosis
Cysticercosis is a medical condition that may be associated with various symptoms and signs....
D-glyceric aciduria
A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical fin...
DEGCAGS syndrome
DEGCAGS syndrome is a medical condition that may be associated with various symptoms and signs....
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect is a medical condition that may be asso...
DPAGT1-CDG
DPAGT1-CDG is a medical condition that may be associated with various symptoms and signs....
DPM1-CDG
DPM1-CDG is a medical condition that may be associated with various symptoms and signs....
DYRK1A-related intellectual disability syndrome
DYRK1A-related intellectual disability syndrome is a medical condition that may be associated with various symptoms and ...
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a medical condition that may be as...
Deep Vein Thrombosis
A blood clot in a deep vein, usually in the leg, that can cause swelling, pain, and warmth and can be life-threatening i...
Deep Venous Insufficiency
Impaired blood flow in the leg veins that causes swelling, varicose veins, and skin changes....
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a medical condition that may be associat...
Dehydration
Loss of body fluids that can cause thirst, dark urine, dry mouth, dizziness, and in severe cases confusion and low blood...
Dengue fever
Dengue fever is a medical condition that may be associated with various symptoms and signs....
Depression
A common but serious mood disorder causing persistent sadness, loss of interest, and changes in sleep, appetite, and ene...
Dermatomyositis
Dermatomyositis is a medical condition that may be associated with various symptoms and signs....
Desminopathy
Desminopathy is a medical condition that may be associated with various symptoms and signs....
Developmental and epileptic encephalopathy 122
Developmental and epileptic encephalopathy 122 is a medical condition that may be associated with various symptoms and s...
Developmental and epileptic encephalopathy with spike-wave activation in sleep
Developmental and epileptic encephalopathy with spike-wave activation in sleep is a medical condition that may be associ...
Diabetes Insipidus
A rare condition in which the body cannot balance fluid properly, causing extreme thirst and large volumes of dilute uri...
Diarrhea
Loose, watery stools occurring more than three times a day, which can be acute or chronic....
Diffuse alveolar hemorrhage
Diffuse alveolar hemorrhage is a medical condition that may be associated with various symptoms and signs....
Diffuse cutaneous mastocytosis
Diffuse cutaneous mastocytosis is a medical condition that may be associated with various symptoms and signs....
Distal Xq28 microduplication syndrome
Distal Xq28 microduplication syndrome is a medical condition that may be associated with various symptoms and signs....
Distal myotilinopathy
Distal myotilinopathy is a medical condition that may be associated with various symptoms and signs....
Distal renal tubular acidosis
Distal renal tubular acidosis is a medical condition that may be associated with various symptoms and signs....
Diverticulitis
Inflammation or infection of pouches in the colon wall, causing lower abdominal pain, fever, and changes in bowel habits...
Dizziness
A feeling of lightheadedness, unsteadiness, or spinning, which can have many causes....
Dopamine beta-hydroxylase deficiency
Dopamine beta-hydroxylase deficiency is a medical condition that may be associated with various symptoms and signs....
Dravet syndrome
Dravet syndrome is a medical condition that may be associated with various symptoms and signs....
Dry Eye Syndrome
Insufficient tears to lubricate the eye, causing dryness, burning, and irritation....
Dubowitz syndrome
Dubowitz syndrome is a medical condition that may be associated with various symptoms and signs....
Dural sinus malformation with arteriovenous shunt
Dural sinus malformation with arteriovenous shunt is a medical condition that may be associated with various symptoms an...
Dursun-Ozgul neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and signs....
Dysferlin-related limb-girdle muscular dystrophy R2
Dysferlin-related limb-girdle muscular dystrophy R2 is a medical condition that may be associated with various symptoms ...
Ear Infection (Otitis Media)
Infection or inflammation of the middle ear, common in children, causing ear pain, fever, and sometimes fluid buildup....
Early infantile developmental and epileptic encephalopathy
Early infantile developmental and epileptic encephalopathy is a medical condition that may be associated with various sy...
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is a medical condition...
Ebola hemorrhagic fever
Ebola hemorrhagic fever is a medical condition that may be associated with various symptoms and signs....
Eisenmenger syndrome
Eisenmenger syndrome is a medical condition that may be associated with various symptoms and signs....
Emanuel syndrome
Emanuel syndrome is a medical condition that may be associated with various symptoms and signs....
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene....
Encephalitis lethargica
Encephalitis lethargica is a medical condition that may be associated with various symptoms and signs....
Endocarditis
Infection of the inner lining of the heart chambers and valves, which can cause fever, fatigue, and heart murmurs....
Endometriosis
A condition in which endometrial-like tissue grows outside the uterus, causing painful periods, pelvic pain, and sometim...
Eosinophilic gastroenteritis
Eosinophilic gastroenteritis is a medical condition that may be associated with various symptoms and signs....
Eosinophilic granulomatosis with polyangiitis
Eosinophilic granulomatosis with polyangiitis is a medical condition that may be associated with various symptoms and si...
Epiglottitis
Inflammation and swelling of the epiglottis that can block the airway, a medical emergency....
Epilepsy
A neurological disorder characterized by recurrent, unprovoked seizures. Management focuses on seizure control and safet...
Epilepsy of infancy with migrating focal seizures
Epilepsy of infancy with migrating focal seizures is a medical condition that may be associated with various symptoms an...
Epilepsy with auditory features
Epilepsy with auditory features is a medical condition that may be associated with various symptoms and signs....
Epilepsy with eyelid myoclonia
Epilepsy with eyelid myoclonia is a medical condition that may be associated with various symptoms and signs....
Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures is a medical condition that may be associated with various symptoms and signs....
Erdheim-Chester disease
Erdheim-Chester disease is a medical condition that may be associated with various symptoms and signs....
Erectile Dysfunction
The persistent inability to achieve or maintain an erection sufficient for satisfactory sexual performance....
Esophageal Cancer
Cancer of the esophagus, which can cause difficulty swallowing, chest pain, and unintended weight loss....
Essential thrombocythemia
Essential thrombocythemia is a medical condition that may be associated with various symptoms and signs....
Ethylene glycol poisoning
Ethylene glycol poisoning is a medical condition that may be associated with various symptoms and signs....
Exercise-induced malignant hyperthermia
Exercise-induced malignant hyperthermia is a medical condition that may be associated with various symptoms and signs....
FLNC-related handgrip and calf weakness-distal myopathy
FLNC-related handgrip and calf weakness-distal myopathy is a medical condition that may be associated with various sympt...
Fabry disease
Fabry disease is a medical condition that may be associated with various symptoms and signs....
Fabry disease
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurol...
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation is a medical conditio...
Facioscapulohumeral dystrophy
Facioscapulohumeral dystrophy is a medical condition that may be associated with various symptoms and signs....
Factor VII deficiency
Factor VII deficiency is a medical condition that may be associated with various symptoms and signs....
Fainting (Syncope)
A brief loss of consciousness due to a temporary drop in blood flow to the brain....
Familial Mediterranean fever
Familial Mediterranean fever is a medical condition that may be associated with various symptoms and signs....
Familial Mediterranean fever, AR
Familial Mediterranean fever, AR is a medical condition that may be associated with various symptoms and signs....
Familial cerebral cavernous malformation
Familial cerebral cavernous malformation is a medical condition that may be associated with various symptoms and signs....
Familial cold urticaria
Familial cold urticaria is a medical condition that may be associated with various symptoms and signs....
Familial colorectal cancer Type X
Familial colorectal cancer Type X is a medical condition that may be associated with various symptoms and signs....
Familial focal epilepsy with variable foci
Familial focal epilepsy with variable foci is a medical condition that may be associated with various symptoms and signs...
Familial glucocorticoid deficiency
Familial glucocorticoid deficiency is a medical condition that may be associated with various symptoms and signs....
Familial hyperaldosteronism type I
Familial hyperaldosteronism type I is a medical condition that may be associated with various symptoms and signs....
Familial hyperaldosteronism type II
Familial hyperaldosteronism type II is a medical condition that may be associated with various symptoms and signs....
Familial hyperaldosteronism type III
Familial hyperaldosteronism type III is a medical condition that may be associated with various symptoms and signs....
Familial infantile myoclonic epilepsy
Familial infantile myoclonic epilepsy is a medical condition that may be associated with various symptoms and signs....
Familial or sporadic hemiplegic migraine
Familial or sporadic hemiplegic migraine is a medical condition that may be associated with various symptoms and signs....
Familial pancreatic carcinoma
Familial pancreatic carcinoma is a medical condition that may be associated with various symptoms and signs....
Familial thrombocytosis
Familial thrombocytosis is a medical condition that may be associated with various symptoms and signs....
Farber disease
Farber disease is a medical condition that may be associated with various symptoms and signs....
Fatal familial insomnia
Fatal familial insomnia is a medical condition that may be associated with various symptoms and signs....
Fibromyalgia
A chronic disorder characterized by widespread musculoskeletal pain, fatigue, and sleep, memory, and mood disturbances....
Folinic acid-responsive seizures
Folinic acid-responsive seizures is a medical condition that may be associated with various symptoms and signs....
Food Poisoning
Illness caused by consuming contaminated food or water, causing nausea, vomiting, diarrhea, and abdominal cramps....
Foodborne botulism
Foodborne botulism is a medical condition that may be associated with various symptoms and signs....
Fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome is a medical condition that may be associated with various symptoms and sign...
Frontotemporal dementia with motor neuron disease
Frontotemporal dementia with motor neuron disease is a medical condition that may be associated with various symptoms an...
Fructose-1,6-bisphosphatase deficiency
Fructose-1,6-bisphosphatase deficiency is a medical condition that may be associated with various symptoms and signs....
Full NF2-related schwannomatosis
Full NF2-related schwannomatosis is a medical condition that may be associated with various symptoms and signs....
Full schwannomatosis
Full schwannomatosis is a medical condition that may be associated with various symptoms and signs....
Fungal Skin Infection
A skin infection caused by dermatophytes, causing itchy, scaly, ring-shaped rashes....
GATA2 deficiency spectrum
GATA2 deficiency spectrum is a medical condition that may be associated with various symptoms and signs....
GM1 gangliosidosis
GM1 gangliosidosis is a medical condition that may be associated with various symptoms and signs....
GMPPB-related limb-girdle muscular dystrophy R19
GMPPB-related limb-girdle muscular dystrophy R19 is a medical condition that may be associated with various symptoms and...
GNE myopathy
GNE myopathy is a medical condition that may be associated with various symptoms and signs....
GRFoma
GRFoma is a medical condition that may be associated with various symptoms and signs....
Gaisböck syndrome
Gaisböck syndrome is a medical condition that may be associated with various symptoms and signs....
Gallbladder Disease
Conditions affecting the gallbladder including gallstones and cholecystitis, causing upper right abdominal pain....
Gallstones
Hardened deposits of digestive fluid that form in the gallbladder and can block the bile duct, causing severe upper abdo...
Gastritis
Inflammation of the stomach lining that can cause pain, nausea, and bloating. May be acute or chronic....
Gastroesophageal Reflux Disease
A condition in which stomach acid frequently flows back into the esophagus, causing heartburn, regurgitation, and chest ...
Gastroparesis
A condition in which the stomach empties too slowly, causing nausea, vomiting, bloating, and early fullness....
Gaucher disease
Gaucher disease is a medical condition that may be associated with various symptoms and signs....
Generalized Anxiety Disorder
Persistent, excessive worry about everyday situations that is difficult to control and interferes with daily life....
Generalized arterial calcification of infancy
Generalized arterial calcification of infancy is a medical condition that may be associated with various symptoms and si...
Genetic epilepsy with febrile seizure plus
Genetic epilepsy with febrile seizure plus is a medical condition that may be associated with various symptoms and signs...
Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria is a medical condition that may be associated with various symptoms and signs....
Genital Herpes
A common sexually transmitted viral infection causing recurrent outbreaks of painful blisters or sores in the genital ar...
Giant cell arteritis
Giant cell arteritis is a medical condition that may be associated with various symptoms and signs....
Gitelman syndrome
Gitelman syndrome is a medical condition that may be associated with various symptoms and signs....
Gitelman syndrome
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabol...
Glanzmann thrombasthenia
Glanzmann thrombasthenia is a medical condition that may be associated with various symptoms and signs....
Glanzmann thrombasthenia 1
A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a c...
Glanzmann thrombasthenia 2
Glanzmann thrombasthenia 2 is a medical condition that may be associated with various symptoms and signs....
Glaucoma
A group of eye conditions that damage the optic nerve, often due to elevated eye pressure, and can lead to vision loss....
Glioblastoma
Glioblastoma is a medical condition that may be associated with various symptoms and signs....
Glossopharyngeal neuralgia
Glossopharyngeal neuralgia is a medical condition that may be associated with various symptoms and signs....
Glucagonoma
Glucagonoma is a medical condition that may be associated with various symptoms and signs....
Glucose-galactose malabsorption
Glucose-galactose malabsorption is a medical condition that may be associated with various symptoms and signs....
Glycogen storage disease 0, muscle
Glycogen storage disease 0, muscle is a medical condition that may be associated with various symptoms and signs....
Glycogen storage disease II
Glycogen storage disease II is a medical condition that may be associated with various symptoms and signs....
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to acid maltase deficiency is a medical condition that may be associated with various sympt...
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset is a medical condition that may be associated w...
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib is a medical condition that may be associated w...
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency is a medical condition that may be asso...
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency is a medical condition that may be associated with...
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency is a medical condition that may be associated w...
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency is a medical condition that may be asso...
Gonorrhea
A sexually transmitted bacterial infection that can affect the genitals, rectum, and throat, often causing discharge and...
Goodpasture syndrome
Goodpasture syndrome is a medical condition that may be associated with various symptoms and signs....
Gout
A form of arthritis caused by uric acid crystal deposition, causing sudden severe joint pain, often in the big toe....
Granulomatosis with polyangiitis
Granulomatosis with polyangiitis is a medical condition that may be associated with various symptoms and signs....
Graves Disease
An autoimmune condition causing hyperthyroidism, often with eye changes (bulging eyes) and goiter....
Guillouet-Gordon syndrome
Guillouet-Gordon syndrome is a medical condition that may be associated with various symptoms and signs....
HELLP syndrome
HELLP syndrome is a medical condition that may be associated with various symptoms and signs....
HIV Infection
A viral infection that attacks the immune system. With treatment, people with HIV can live long, healthy lives....
Hao-Fountain syndrome due to 16p13.2 microdeletion
Hao-Fountain syndrome due to 16p13.2 microdeletion is a medical condition that may be associated with various symptoms a...
Hardikar syndrome
Hardikar syndrome is a medical condition that may be associated with various symptoms and signs....
Hashimoto Thyroiditis
An autoimmune disease that attacks the thyroid gland and is the most common cause of hypothyroidism....
Heart Failure
A condition in which the heart cannot pump blood effectively, leading to fluid buildup in the lungs and body and symptom...
Helsmoortel-van der Aa syndrome
Helsmoortel-van der Aa syndrome is a medical condition that may be associated with various symptoms and signs....
Hemimegalencephaly
Hemimegalencephaly is a medical condition that may be associated with various symptoms and signs....
Hemophilia A
Hemophilia A is a medical condition that may be associated with various symptoms and signs....
Hemorrhagic fever-renal syndrome
Hemorrhagic fever-renal syndrome is a medical condition that may be associated with various symptoms and signs....
Hemorrhoids
Swollen veins in the lower rectum and anus that can cause pain, itching, and bleeding during bowel movements....
Hepatitis
Inflammation of the liver, which can be caused by viruses (A, B, C), alcohol, medications, or autoimmune disease....
Hepatitis B
A viral liver infection that can be acute or chronic, transmitted through blood and bodily fluids....
Hepatitis C
A viral infection of the liver that can become chronic and cause liver damage over years. Often silent in early stages....
Hepatitis delta
Hepatitis delta is a medical condition that may be associated with various symptoms and signs....
Hereditary ATTR amyloidosis
Hereditary ATTR amyloidosis is a medical condition that may be associated with various symptoms and signs....
Hereditary amyloidosis with primary renal involvement
Hereditary amyloidosis with primary renal involvement is a medical condition that may be associated with various symptom...
Hereditary angioedema type 1
Hereditary angioedema type 1 is a medical condition that may be associated with various symptoms and signs....
Hereditary angioedema with C1Inh deficiency
Hereditary angioedema with C1Inh deficiency is a medical condition that may be associated with various symptoms and sign...
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary combined deficiency of vitamin K-dependent clotting factors is a medical condition that may be associated wit...
Hereditary coproporphyria
Hereditary coproporphyria is a medical condition that may be associated with various symptoms and signs....
Hereditary fructose intolerance
Hereditary fructose intolerance is a medical condition that may be associated with various symptoms and signs....
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, Okinawa type is a medical condition that may be associated with various symptom...
Hereditary myopathy with early respiratory failure
Hereditary myopathy with early respiratory failure is a medical condition that may be associated with various symptoms a...
Hereditary pheochromocytoma-paraganglioma
Hereditary pheochromocytoma-paraganglioma is a medical condition that may be associated with various symptoms and signs....
Hereditary spherocytosis
Hereditary spherocytosis is a medical condition that may be associated with various symptoms and signs....
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome is a medical condition that may be associated with various symptoms and signs....
Hermansky-Pudlak syndrome 1
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene....
Hermansky-Pudlak syndrome 7
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene....
Herniated Disc
A disc in the spine that bulges or ruptures, pressing on nerves and causing pain, numbness, or weakness....
Herpes Zoster
A painful rash (shingles) caused by reactivation of the varicella-zoster virus, often with burning pain before the rash ...
Herpes simplex virus encephalitis
Herpes simplex virus encephalitis is a medical condition that may be associated with various symptoms and signs....
High altitude pulmonary edema
High altitude pulmonary edema is a medical condition that may be associated with various symptoms and signs....
Homocystinuria due to cystathionine beta-synthase deficiency
Homocystinuria due to cystathionine beta-synthase deficiency is a medical condition that may be associated with various ...
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency is a medical condition that may be associated with...
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....
Hughes-Stovin syndrome
Hughes-Stovin syndrome is a medical condition that may be associated with various symptoms and signs....
Human Papillomavirus Infection
A very common sexually transmitted viral infection, many types of which are harmless, while some cause genital warts or ...
Huntington disease
Huntington disease is a medical condition that may be associated with various symptoms and signs....
Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford progeria syndrome is a medical condition that may be associated with various symptoms and signs....
Hyper-IgE recurrent infection syndrome
Hyper-IgE recurrent infection syndrome is a medical condition that may be associated with various symptoms and signs....
Hyper-Igd syndrome
Hyper-Igd syndrome is a medical condition that may be associated with various symptoms and signs....
Hyperammonemia due to N-acetylglutamate synthase deficiency
Hyperammonemia due to N-acetylglutamate synthase deficiency is a medical condition that may be associated with various s...
Hyperimmunoglobulinemia D with periodic fever
Hyperimmunoglobulinemia D with periodic fever is a medical condition that may be associated with various symptoms and si...
Hyperlipidemia
Elevated levels of cholesterol or triglycerides in the blood, a major risk factor for heart attack and stroke....
Hyperlysinemia
Hyperlysinemia is a medical condition that may be associated with various symptoms and signs....
Hypermobile Ehlers-Danlos syndrome
Hypermobile Ehlers-Danlos syndrome is a medical condition that may be associated with various symptoms and signs....
Hyperparathyroidism
Overactivity of the parathyroid glands causing high blood calcium, which can lead to kidney stones, bone loss, and fatig...
Hyperparathyroidism-jaw tumor syndrome
Hyperparathyroidism-jaw tumor syndrome is a medical condition that may be associated with various symptoms and signs....
Hyperprolinemia type 2
Hyperprolinemia type 2 is a medical condition that may be associated with various symptoms and signs....
Hypertension
Chronically elevated blood pressure that puts strain on the heart, blood vessels, kidneys, and brain. Often has no sympt...
Hyperthyroidism
A condition in which the thyroid gland produces too much thyroid hormone, speeding up metabolism and causing weight loss...
Hypocomplementemic urticarial vasculitis
Hypocomplementemic urticarial vasculitis is a medical condition that may be associated with various symptoms and signs....
Hypoglycemia
Abnormally low blood sugar levels causing shakiness, sweating, confusion, and in severe cases loss of consciousness....
Hypoparathyroidism
Underactivity of the parathyroid glands causing low blood calcium, which can cause tingling, muscle cramps, and seizures...
Hypotension
Abnormally low blood pressure that can cause dizziness, lightheadedness, and fainting....
Hypothyroidism
A condition in which the thyroid gland does not produce enough thyroid hormone, slowing metabolism and affecting energy,...
IBS (Irritable Bowel Syndrome)
A common functional disorder of the large intestine causing cramping, abdominal pain, bloating, gas, and diarrhea or con...
ICHAD syndrome
ICHAD syndrome is a medical condition that may be associated with various symptoms and signs....
Idiopathic bronchiectasis
Idiopathic bronchiectasis is a medical condition that may be associated with various symptoms and signs....
Idiopathic chronic eosinophilic pneumonia
Idiopathic chronic eosinophilic pneumonia is a medical condition that may be associated with various symptoms and signs....
Idiopathic hypereosinophilic syndrome
Idiopathic hypereosinophilic syndrome is a medical condition that may be associated with various symptoms and signs....
Idiopathic intracranial hypertension
Idiopathic intracranial hypertension is a medical condition that may be associated with various symptoms and signs....
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance is a medical condition that may be ass...
IgG4-related dacryoadenitis and sialadenitis
IgG4-related dacryoadenitis and sialadenitis is a medical condition that may be associated with various symptoms and sig...
IgG4-related pachymeningitis
IgG4-related pachymeningitis is a medical condition that may be associated with various symptoms and signs....
IgG4-related retroperitoneal fibrosis
IgG4-related retroperitoneal fibrosis is a medical condition that may be associated with various symptoms and signs....
Ileal neuroendocrine tumor
Ileal neuroendocrine tumor is a medical condition that may be associated with various symptoms and signs....
Immune-mediated necrotizing myopathy
Immune-mediated necrotizing myopathy is a medical condition that may be associated with various symptoms and signs....
Immune-mediated thrombotic thrombocytopenic purpura
Immune-mediated thrombotic thrombocytopenic purpura is a medical condition that may be associated with various symptoms ...
Immunodeficiency 126
Immunodeficiency 126 is a medical condition that may be associated with various symptoms and signs....
Immunoglobulin A vasculitis
Immunoglobulin A vasculitis is a medical condition that may be associated with various symptoms and signs....
Infant botulism
Infant botulism is a medical condition that may be associated with various symptoms and signs....
Infantile Krabbe disease
Infantile Krabbe disease is a medical condition that may be associated with various symptoms and signs....
Infection-related hemolytic uremic syndrome
Infection-related hemolytic uremic syndrome is a medical condition that may be associated with various symptoms and sign...
Infectious Mononucleosis
A viral infection commonly caused by Epstein-Barr virus, characterized by fever, sore throat, and swollen lymph glands....
Inflammatory Bowel Disease
Chronic inflammation of the digestive tract, including Crohn disease and ulcerative colitis, causing abdominal pain, dia...
Inflammatory pseudotumor of the liver
Inflammatory pseudotumor of the liver is a medical condition that may be associated with various symptoms and signs....
Influenza
A contagious respiratory viral infection causing fever, chills, muscle aches, cough, congestion, and fatigue....
Inhalational anthrax
Inhalational anthrax is a medical condition that may be associated with various symptoms and signs....
Inhalational botulism
Inhalational botulism is a medical condition that may be associated with various symptoms and signs....
Inherited Creutzfeldt-Jakob disease
Inherited Creutzfeldt-Jakob disease is a medical condition that may be associated with various symptoms and signs....
Insomnia
Difficulty falling asleep, staying asleep, or getting restful sleep despite adequate opportunity, affecting daytime func...
Insulinoma
Insulinoma is a medical condition that may be associated with various symptoms and signs....
Intellectual disability syndrome due to a DYRK1A point mutation
Intellectual disability syndrome due to a DYRK1A point mutation is a medical condition that may be associated with vario...
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome is a medical condition that may be associated...
Intellectual disability-seizures-macrocephaly-obesity syndrome
Intellectual disability-seizures-macrocephaly-obesity syndrome is a medical condition that may be associated with variou...
Interstitial Cystitis
A chronic bladder condition causing pelvic pain, urgency, and frequent urination....
Iron Deficiency
A common cause of anemia in which the body lacks enough iron to make hemoglobin. It can result from blood loss, poor abs...
Irritable Bladder
A term sometimes used for a bladder with overactive or hypersensitive symptoms....
Irritable Bowel Syndrome
A common functional disorder of the gut causing abdominal pain, bloating, and changes in bowel habits such as diarrhea a...
Irritable Bowel Syndrome - Constipation Predominant
A subtype of IBS characterized by constipation with abdominal pain and bloating....
Irritable Bowel Syndrome - Diarrhea Predominant
A subtype of IBS characterized by frequent diarrhea with abdominal pain and urgency....
Isolated focal cortical dysplasia
Isolated focal cortical dysplasia is a medical condition that may be associated with various symptoms and signs....
Isolated mesenteric vein thrombosis
Isolated mesenteric vein thrombosis is a medical condition that may be associated with various symptoms and signs....
Isolated polycystic liver disease
Isolated polycystic liver disease is a medical condition that may be associated with various symptoms and signs....
Isolated succinate-CoQ reductase deficiency
Isolated succinate-CoQ reductase deficiency is a medical condition that may be associated with various symptoms and sign...
Isolated thyroid-stimulating hormone deficiency
Isolated thyroid-stimulating hormone deficiency is a medical condition that may be associated with various symptoms and ...
Jaberi-Elahi syndrome
Jaberi-Elahi syndrome is a medical condition that may be associated with various symptoms and signs....
Japanese encephalitis
Japanese encephalitis is a medical condition that may be associated with various symptoms and signs....
Jaundice
Yellowing of the skin and eyes caused by elevated bilirubin, which can indicate liver, bile duct, or blood disorders....
Jeffries-Lakhani neurodevelopmental syndrome
Jeffries-Lakhani neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and sig...
Juvenile absence epilepsy
Juvenile absence epilepsy is a medical condition that may be associated with various symptoms and signs....
Juvenile dermatomyositis
Juvenile dermatomyositis is a medical condition that may be associated with various symptoms and signs....
Juvenile polyposis syndrome
Juvenile polyposis syndrome is a medical condition that may be associated with various symptoms and signs....
KID syndrome
KID syndrome is a medical condition that may be associated with various symptoms and signs....
Kabuki syndrome 1
Kabuki syndrome 1 is a medical condition that may be associated with various symptoms and signs....
Kaposi sarcoma
Kaposi sarcoma is a medical condition that may be associated with various symptoms and signs....
Kaposiform lymphangiomatosis
Kaposiform lymphangiomatosis is a medical condition that may be associated with various symptoms and signs....
Karayol-Borroto-Haghshenas neurodevelopmental syndrome
Karayol-Borroto-Haghshenas neurodevelopmental syndrome is a medical condition that may be associated with various sympto...
Kawasaki disease
Kawasaki disease is a medical condition that may be associated with various symptoms and signs....
Kidney Infection (Pyelonephritis)
A bacterial infection of the kidneys, usually ascending from the bladder, causing fever, flank pain, and urinary symptom...
Kidney Stones
Hard mineral deposits that form in the kidneys and can cause severe flank pain, blood in the urine, and urinary obstruct...
Kikuchi-Fujimoto disease
Kikuchi-Fujimoto disease is a medical condition that may be associated with various symptoms and signs....
Kleefstra syndrome 1
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of...
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to 9q34 microdeletion is a medical condition that may be associated with various symptoms and sig...
Kleine-Levin syndrome
Kleine-Levin syndrome is a medical condition that may be associated with various symptoms and signs....
Kohlschutter-Tonz syndrome-like
Kohlschutter-Tonz syndrome-like is a medical condition that may be associated with various symptoms and signs....
Krabbe disease
Krabbe disease is a medical condition that may be associated with various symptoms and signs....
Kufor-Rakeb syndrome
Kufor-Rakeb syndrome is a medical condition that may be associated with various symptoms and signs....
Lafora disease
Lafora disease is a medical condition that may be associated with various symptoms and signs....
Laing distal myopathy
Laing distal myopathy is a medical condition that may be associated with various symptoms and signs....
Laminin subunit alpha 2-related congenital muscular dystrophy
Laminin subunit alpha 2-related congenital muscular dystrophy is a medical condition that may be associated with various...
Landau-Kleffner syndrome
Landau-Kleffner syndrome is a medical condition that may be associated with various symptoms and signs....
Laryngitis
Inflammation of the voice box causing hoarseness and loss of voice, usually viral....
Lassa fever
Lassa fever is a medical condition that may be associated with various symptoms and signs....
Late-infantile/juvenile Krabbe disease
Late-infantile/juvenile Krabbe disease is a medical condition that may be associated with various symptoms and signs....
Late-onset distal myopathy, Markesbery-Griggs type
Late-onset distal myopathy, Markesbery-Griggs type is a medical condition that may be associated with various symptoms a...
Late-onset isolated ACTH deficiency
Late-onset isolated ACTH deficiency is a medical condition that may be associated with various symptoms and signs....
Lead poisoning
Lead poisoning is a medical condition that may be associated with various symptoms and signs....
Legionnaires disease
Legionnaires disease is a medical condition that may be associated with various symptoms and signs....
Leigh syndrome
Leigh syndrome is a medical condition that may be associated with various symptoms and signs....
Lennox-Gastaut syndrome
Lennox-Gastaut syndrome is a medical condition that may be associated with various symptoms and signs....
Leprosy
Leprosy is a medical condition that may be associated with various symptoms and signs....
Leptospirosis
Leptospirosis is a medical condition that may be associated with various symptoms and signs....
Leukemia
Cancer of the blood-forming tissues, causing abnormal blood cells that can lead to anemia, infection, and bleeding....
Lipodystrophy, familial partial, type 7
Lipodystrophy, familial partial, type 7 is a medical condition that may be associated with various symptoms and signs....
Lissencephaly due to LIS1 mutation
Lissencephaly due to LIS1 mutation is a medical condition that may be associated with various symptoms and signs....
Listeriosis
Listeriosis is a medical condition that may be associated with various symptoms and signs....
Liver Cancer
Cancer that starts in the liver, which can cause jaundice, abdominal swelling, and weight loss....
Lobar holoprosencephaly
Lobar holoprosencephaly is a medical condition that may be associated with various symptoms and signs....
Localized scleroderma
Localized scleroderma is a medical condition that may be associated with various symptoms and signs....
Loeffler endocarditis
Loeffler endocarditis is a medical condition that may be associated with various symptoms and signs....
Lujo hemorrhagic fever
Lujo hemorrhagic fever is a medical condition that may be associated with various symptoms and signs....
Lung Cancer
Cancer that begins in the lungs. Often associated with smoking; symptoms may include cough, blood in sputum, and weight ...
Lyme disease
Lyme disease is a medical condition that may be associated with various symptoms and signs....
Lymphangioleiomyomatosis
Lymphangioleiomyomatosis is a medical condition that may be associated with various symptoms and signs....
Lymphatic filariasis
Lymphatic filariasis is a medical condition that may be associated with various symptoms and signs....
Lymphoid interstitial pneumonia
Lymphoid interstitial pneumonia is a medical condition that may be associated with various symptoms and signs....
Lymphoma
Cancer of the lymphatic system, causing swollen lymph nodes, fever, night sweats, and weight loss....
Lynch syndrome
Lynch syndrome is a medical condition that may be associated with various symptoms and signs....
Lysosomal acid lipase deficiency
Lysosomal acid lipase deficiency is a medical condition that may be associated with various symptoms and signs....
MEGF10-related myopathy
A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which c...
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
MELAS syndrome
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic...
MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a medical condition that may be associa...
Macular Degeneration
A progressive eye disease affecting the macula, causing loss of central vision, most common in older adults....
Maculopapular cutaneous mastocytosis
Maculopapular cutaneous mastocytosis is a medical condition that may be associated with various symptoms and signs....
Majeed syndrome
Majeed syndrome is a medical condition that may be associated with various symptoms and signs....
Mal de débarquement
Mal de débarquement is a medical condition that may be associated with various symptoms and signs....
Malakoplakia
Malakoplakia is a medical condition that may be associated with various symptoms and signs....
Male Hypogonadism
A condition in which the body does not produce enough testosterone, causing low energy, reduced libido, and mood changes...
Malignant atrophic papulosis
Malignant atrophic papulosis is a medical condition that may be associated with various symptoms and signs....
Marburg hemorrhagic fever
Marburg hemorrhagic fever is a medical condition that may be associated with various symptoms and signs....
Marchiafava-Bignami disease
Marchiafava-Bignami disease is a medical condition that may be associated with various symptoms and signs....
Measles
A highly contagious viral infection causing fever, cough, runny nose, and a characteristic red rash....
Medium chain acyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency is a medical condition that may be associated with various symptoms and s...
Medulloblastoma
Medulloblastoma is a medical condition that may be associated with various symptoms and signs....
Melanoma
A serious form of skin cancer that develops in pigment-producing cells, often appearing as a changing or unusual mole....
Melnick-Needles syndrome
A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnorm...
Mendez-Johnson immunoneurologic syndrome
Mendez-Johnson immunoneurologic syndrome is a medical condition that may be associated with various symptoms and signs....
Meniere Disease
A disorder of the inner ear causing episodes of vertigo, tinnitus, hearing loss, and a feeling of fullness in the ear....
Meningioma
Meningioma is a medical condition that may be associated with various symptoms and signs....
Meningitis
Inflammation of the membranes around the brain and spinal cord, usually caused by infection. Can be life-threatening....
Meningococcal meningitis
Meningococcal meningitis is a medical condition that may be associated with various symptoms and signs....
Menkes disease
Menkes disease is a medical condition that may be associated with various symptoms and signs....
Menopause
The natural end of menstrual periods and reproductive years, causing hot flashes, night sweats, and hormonal changes....
Mercury poisoning
Mercury poisoning is a medical condition that may be associated with various symptoms and signs....
Metabolic Syndrome
A cluster of conditions - increased blood pressure, high blood sugar, excess body fat, and abnormal cholesterol - that i...
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, adult form is a medical condition that may be associated with various symptoms and signs....
Methanol poisoning
Methanol poisoning is a medical condition that may be associated with various symptoms and signs....
Methotrexate toxicity
Methotrexate toxicity is a medical condition that may be associated with various symptoms and signs....
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblE is a medical condition that may be associated with various symptoms and signs....
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism types I and III is a medical condition that may be associated with var...
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome is a medical condition that may be associated with various symptoms a...
Microphthalmia with linear skin defects syndrome
Microphthalmia with linear skin defects syndrome is a medical condition that may be associated with various symptoms and...
Microscopic polyangiitis
Microscopic polyangiitis is a medical condition that may be associated with various symptoms and signs....
Microsporidiosis
Microsporidiosis is a medical condition that may be associated with various symptoms and signs....
Midline interhemispheric variant of holoprosencephaly
Midline interhemispheric variant of holoprosencephaly is a medical condition that may be associated with various symptom...
Migraine
A neurological condition causing recurrent moderate-to-severe headaches, often with nausea, light sensitivity, and visua...
Miller Fisher syndrome
Miller Fisher syndrome is a medical condition that may be associated with various symptoms and signs....
Mirizzi syndrome
Mirizzi syndrome is a medical condition that may be associated with various symptoms and signs....
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA depletion syndrome, myopathic form is a medical condition that may be associated with various symptoms...
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA-associated Leigh syndrome is a medical condition that may be associated with various symptoms and sign...
Mitochondrial DNA-related cardiomyopathy and hearing loss
Mitochondrial DNA-related cardiomyopathy and hearing loss is a medical condition that may be associated with various sym...
Mitochondrial complex IV deficiency, nuclear type 2
Mitochondrial complex IV deficiency, nuclear type 2 is a medical condition that may be associated with various symptoms ...
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome is a medical condition that may be associated w...
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial neurogastrointestinal encephalomyopathy is a medical condition that may be associated with various symptom...
Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein deficiency is a medical condition that may be associated with various symptoms and s...
Mixed connective tissue disease
Mixed connective tissue disease is a medical condition that may be associated with various symptoms and signs....
Miyoshi myopathy
Miyoshi myopathy is a medical condition that may be associated with various symptoms and signs....
Moderate hemophilia A
Moderate hemophilia A is a medical condition that may be associated with various symptoms and signs....
Monosomy X syndrome
Monosomy X syndrome is a medical condition that may be associated with various symptoms and signs....
Morgagni-Stewart-Morel syndrome
Morgagni-Stewart-Morel syndrome is a medical condition that may be associated with various symptoms and signs....
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various symptoms and sig...
Mosaic monosomy X syndrome
Mosaic monosomy X syndrome is a medical condition that may be associated with various symptoms and signs....
Mowat-Wilson syndrome
Mowat-Wilson syndrome is a medical condition that may be associated with various symptoms and signs....
Mowat-Wilson syndrome due to a ZEB2 point mutation
Mowat-Wilson syndrome due to a ZEB2 point mutation is a medical condition that may be associated with various symptoms a...
Mowat-Wilson syndrome due to monosomy 2q22
Mowat-Wilson syndrome due to monosomy 2q22 is a medical condition that may be associated with various symptoms and signs...
Muckle-Wells syndrome
An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with mala...
Muckle-Wells syndrome
Muckle-Wells syndrome is a medical condition that may be associated with various symptoms and signs....
Mucopolysaccharidosis type 3
Mucopolysaccharidosis type 3 is a medical condition that may be associated with various symptoms and signs....
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome is a medical condition that may be associated with vari...
Multiple Sclerosis
A chronic autoimmune disease that damages the myelin sheath of nerves, causing a wide range of neurological symptoms....
Multiple acyl-CoA dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency is a medical condition that may be associated with various symptoms and signs...
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome is a medical condition that may be associated with various sym...
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1 is a medical condition that may be associated with various symptoms and signs....
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2 is a medical condition that may be associated with various symptoms and signs....
Mumps
A contagious viral infection causing swelling of the salivary glands, fever, and muscle aches....
Muscular dystrophy, limb-girdle, type 1E
Muscular dystrophy, limb-girdle, type 1E is a medical condition that may be associated with various symptoms and signs....
Myasthenia gravis
Myasthenia gravis is a medical condition that may be associated with various symptoms and signs....
Mycoplasma Genitalium Infection
A sexually transmitted bacterial infection that can cause urethritis, discharge, and pelvic pain....
Myelodysplastic neoplasm with increased blasts
Myelodysplastic neoplasm with increased blasts is a medical condition that may be associated with various symptoms and s...
Myocardial Infarction
A heart attack, occurring when blood flow to part of the heart muscle is blocked, causing chest pain and heart muscle da...
Myopathy and diabetes mellitus
Myopathy and diabetes mellitus is a medical condition that may be associated with various symptoms and signs....
Myopathy, distal, 1
Myopathy, distal, 1 is a medical condition that may be associated with various symptoms and signs....
Ménétrier disease
Ménétrier disease is a medical condition that may be associated with various symptoms and signs....
NAD(P)HX dehydratase deficiency
NAD(P)HX dehydratase deficiency is a medical condition that may be associated with various symptoms and signs....
NF2-related schwannomatosis
A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas....
NMDA receptor encephalitis
NMDA receptor encephalitis is a medical condition that may be associated with various symptoms and signs....
Nasal Polyps
Soft, non-cancerous growths in the nasal lining that can cause congestion, reduced sense of smell, and sinus pressure....
Necrotizing enterocolitis
Necrotizing enterocolitis is a medical condition that may be associated with various symptoms and signs....
Nemaline myopathy 3
Nemaline myopathy 3 is a medical condition that may be associated with various symptoms and signs....
Netherton syndrome
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive h...
Neuroblastoma
Neuroblastoma is a medical condition that may be associated with various symptoms and signs....
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome is a medical condition t...
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 9q21.3 microdelet...
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation ...
Neuroendocrine neoplasm of appendix
Neuroendocrine neoplasm of appendix is a medical condition that may be associated with various symptoms and signs....
Neuroendocrine tumor of anal canal
Neuroendocrine tumor of anal canal is a medical condition that may be associated with various symptoms and signs....
Neuroendocrine tumor of stomach
Neuroendocrine tumor of stomach is a medical condition that may be associated with various symptoms and signs....
Neuroendocrine tumor of the rectum
Neuroendocrine tumor of the rectum is a medical condition that may be associated with various symptoms and signs....
Neuroleptic malignant syndrome
Neuroleptic malignant syndrome is a medical condition that may be associated with various symptoms and signs....
Neutral lipid storage disease with myopathy
Neutral lipid storage disease with myopathy is a medical condition that may be associated with various symptoms and sign...
New-onset refractory status epilepticus
New-onset refractory status epilepticus is a medical condition that may be associated with various symptoms and signs....
Niemann-Pick disease type C
Niemann-Pick disease type C is a medical condition that may be associated with various symptoms and signs....
Nil-Deshwar neurodevelopmental syndrome
Nil-Deshwar neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and signs....
Nipah virus disease
Nipah virus disease is a medical condition that may be associated with various symptoms and signs....
Nocardiosis
Nocardiosis is a medical condition that may be associated with various symptoms and signs....
Nodular non-suppurative panniculitis
Nodular non-suppurative panniculitis is a medical condition that may be associated with various symptoms and signs....
Non-Alcoholic Fatty Liver Disease
Accumulation of fat in the liver not caused by alcohol, often associated with obesity, diabetes, and metabolic syndrome....
Non-functioning paraganglioma
Non-functioning paraganglioma is a medical condition that may be associated with various symptoms and signs....
Non-functioning pituitary adenoma
Non-functioning pituitary adenoma is a medical condition that may be associated with various symptoms and signs....
Non-insulinoma pancreatogenous hypoglycemia syndrome
Non-insulinoma pancreatogenous hypoglycemia syndrome is a medical condition that may be associated with various symptoms...
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy is a medical condition...
Noonan syndrome 13
Noonan syndrome 13 is a medical condition that may be associated with various symptoms and signs....
Norrie disease
Norrie disease is a medical condition that may be associated with various symptoms and signs....
Obesity
A complex disease involving excessive body fat that increases the risk of many other health conditions....
Obsessive Compulsive Disorder
A condition characterized by unwanted intrusive thoughts (obsessions) and repetitive behaviors (compulsions)....
Obstructive Sleep Apnea
Repeated episodes of breathing pauses during sleep due to airway collapse, causing daytime sleepiness and cardiovascular...
Oculocerebrorenal syndrome of Lowe
Oculocerebrorenal syndrome of Lowe is a medical condition that may be associated with various symptoms and signs....
Oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy is a medical condition that may be associated with various symptoms and signs....
Oculopharyngodistal myopathy
Oculopharyngodistal myopathy is a medical condition that may be associated with various symptoms and signs....
Ogden syndrome
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth de...
Omenn syndrome
An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, ly...
Omenn syndrome
Omenn syndrome is a medical condition that may be associated with various symptoms and signs....
Optic pathway glioma
Optic pathway glioma is a medical condition that may be associated with various symptoms and signs....
Ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency is a medical condition that may be associated with various symptoms and signs....
Osteoarthritis
The most common form of arthritis, caused by wear and tear of joint cartilage, leading to pain, stiffness, and reduced m...
Osteoarthritis of the Hip
Degeneration of hip joint cartilage causing pain, stiffness, and reduced mobility....
Osteoarthritis of the Knee
Degeneration of knee cartilage causing pain, stiffness, swelling, and reduced mobility....
Osteogenesis imperfecta
Osteogenesis imperfecta is a medical condition that may be associated with various symptoms and signs....
Osteomyelitis
A bone infection, usually bacterial, causing bone pain, fever, and swelling over the affected area....
Osteoporosis
A condition of weakened bones that increases the risk of fractures, often without symptoms until a fracture occurs....
Otitis Media
Infection or inflammation of the middle ear, common in children, causing ear pain, fever, and sometimes hearing loss....
Ovarian Cancer
Cancer of the ovaries, which often causes vague symptoms such as bloating, pelvic pain, and feeling full quickly....
Overactive Bladder
Sudden, uncontrollable urge to urinate, often with frequent urination and nocturia....
PCDH19 clustering epilepsy
PCDH19 clustering epilepsy is a medical condition that may be associated with various symptoms and signs....
PFAPA syndrome
PFAPA syndrome is a medical condition that may be associated with various symptoms and signs....
PMM2-CDG
PMM2-CDG is a medical condition that may be associated with various symptoms and signs....
PMM2-congenital disorder of glycosylation
The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnorma...
POEMS syndrome
POEMS syndrome is a medical condition that may be associated with various symptoms and signs....
PPFIA3-related neurodevelopmental disorder
A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental de...
PPoma
PPoma is a medical condition that may be associated with various symptoms and signs....
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome is a medical condition that may be associated wi...
Palmoplantar keratoderma-esophageal carcinoma syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome is a medical condition that may be associated with various sympto...
Palpitations
The sensation of a racing, pounding, fluttering, or irregular heartbeat....
Pan-Chung-Bellen syndrome
Pan-Chung-Bellen syndrome is a medical condition that may be associated with various symptoms and signs....
Pancreatic Cancer
Cancer of the pancreas, which often has subtle early symptoms including jaundice, abdominal pain, and weight loss....
Pancreatic triacylglycerol lipase deficiency
Pancreatic triacylglycerol lipase deficiency is a medical condition that may be associated with various symptoms and sig...
Pancreatitis
Inflammation of the pancreas that causes severe upper abdominal pain radiating to the back, nausea, and vomiting....
Panic Attacks
Sudden episodes of intense fear with physical symptoms such as palpitations, sweating, and breathlessness....
Panic Disorder
A condition marked by recurrent, unexpected panic attacks with intense fear and physical symptoms such as palpitations a...
Parathyroid carcinoma
Parathyroid carcinoma is a medical condition that may be associated with various symptoms and signs....
Parkes Weber syndrome
Parkes Weber syndrome is a medical condition that may be associated with various symptoms and signs....
Parkinson Disease
A progressive neurological disorder affecting movement, causing tremor, stiffness, slowness, and balance problems....
Parkinson disease 26, autosomal dominant, susceptibility to
Parkinson disease 26, autosomal dominant, susceptibility to is a medical condition that may be associated with various s...
Paroxysmal hemicrania
Paroxysmal hemicrania is a medical condition that may be associated with various symptoms and signs....
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria is a medical condition that may be associated with various symptoms and signs....
Pauci-immune glomerulonephritis
Pauci-immune glomerulonephritis is a medical condition that may be associated with various symptoms and signs....
Pediatric systemic lupus erythematosus
Pediatric systemic lupus erythematosus is a medical condition that may be associated with various symptoms and signs....
Pediatric-onset Graves disease
Pediatric-onset Graves disease is a medical condition that may be associated with various symptoms and signs....
Pelizaeus-Merzbacher spectrum disorder
An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellec...
Pellagra
Pellagra is a medical condition that may be associated with various symptoms and signs....
Peptic Ulcer Disease
Open sores on the stomach or duodenum lining, often caused by H. pylori infection or NSAID use, causing burning stomach ...
Peripartum cardiomyopathy
Peripartum cardiomyopathy is a medical condition that may be associated with various symptoms and signs....
Peripheral Artery Disease
Narrowing of the arteries in the limbs, usually the legs, causing cramping with walking and poor wound healing....
Peripheral primitive neuroectodermal tumor
Peripheral primitive neuroectodermal tumor is a medical condition that may be associated with various symptoms and signs...
Phelan-McDermid syndrome
A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to ac...
Phelan-McDermid syndrome
Phelan-McDermid syndrome is a medical condition that may be associated with various symptoms and signs....
Pilonidal Cyst
A cyst that forms near the tailbone, often containing hair and skin debris, which can become infected and painful....
Pitt-Hopkins like syndrome 1
Pitt-Hopkins like syndrome 1 is a medical condition that may be associated with various symptoms and signs....
Pituitary apoplexy
Pituitary apoplexy is a medical condition that may be associated with various symptoms and signs....
Plague
Plague is a medical condition that may be associated with various symptoms and signs....
Plantar Fasciitis
Inflammation of the tissue along the bottom of the foot causing heel pain, especially in the morning....
Plectin-related limb-girdle muscular dystrophy R17
Plectin-related limb-girdle muscular dystrophy R17 is a medical condition that may be associated with various symptoms a...
Pleurisy
Inflammation of the lining around the lungs, causing sharp chest pain that worsens with breathing or coughing....
Pneumonia
Infection of the lung tissue that can cause cough, fever, chills, and difficulty breathing. Can be caused by bacteria, v...
Pneumothorax
A collapsed lung caused by air leaking into the space between the lung and chest wall, causing sudden chest pain and bre...
Poliomyelitis
Poliomyelitis is a medical condition that may be associated with various symptoms and signs....
Polyarteritis nodosa
Polyarteritis nodosa is a medical condition that may be associated with various symptoms and signs....
Polycystic Ovary Syndrome
A hormonal disorder common in reproductive-age women, causing irregular periods, excess androgen, and ovarian cysts....
Polycythemia vera
Polycythemia vera is a medical condition that may be associated with various symptoms and signs....
Polymyalgia Rheumatica
An inflammatory condition causing pain and stiffness in the shoulders, neck, and hips, most common in older adults....
Polymyositis
Polymyositis is a medical condition that may be associated with various symptoms and signs....
Popov-Chang syndrome
Popov-Chang syndrome is a medical condition that may be associated with various symptoms and signs....
Porphyria due to ALA dehydratase deficiency
Porphyria due to ALA dehydratase deficiency is a medical condition that may be associated with various symptoms and sign...
Post Traumatic Stress Disorder
A condition that develops after experiencing or witnessing a traumatic event, causing intrusive memories, avoidance, and...
Post-transplant lymphoproliferative disease
Post-transplant lymphoproliferative disease is a medical condition that may be associated with various symptoms and sign...
Postencephalitic parkinsonism
Postencephalitic parkinsonism is a medical condition that may be associated with various symptoms and signs....
Postinfectious vasculitis
Postinfectious vasculitis is a medical condition that may be associated with various symptoms and signs....
Postorgasmic illness syndrome
Postorgasmic illness syndrome is a medical condition that may be associated with various symptoms and signs....
Postpoliomyelitis syndrome
Postpoliomyelitis syndrome is a medical condition that may be associated with various symptoms and signs....
Postsynaptic congenital myasthenic syndrome
Postsynaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and sign...
Prader-Willi syndrome
Prader-Willi syndrome is a medical condition that may be associated with various symptoms and signs....
Prediabetes
Blood sugar levels that are higher than normal but not yet high enough to be diagnosed as type 2 diabetes. It is conside...
Premenstrual Syndrome
A combination of physical and emotional symptoms occurring in the days before menstruation....
Presynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes is a medical condition that may be associated with various symptoms and sign...
Primary Sjögren disease
Primary Sjögren disease is a medical condition that may be associated with various symptoms and signs....
Primary angiitis of the central nervous system
Primary angiitis of the central nervous system is a medical condition that may be associated with various symptoms and s...
Primary familial polycythemia
Primary familial polycythemia is a medical condition that may be associated with various symptoms and signs....
Primary hepatic neuroendocrine carcinoma
Primary hepatic neuroendocrine carcinoma is a medical condition that may be associated with various symptoms and signs....
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome is a medical condition that may be associated wi...
Primary sclerosing cholangitis
Primary sclerosing cholangitis is a medical condition that may be associated with various symptoms and signs....
Primary unilateral adrenal hyperplasia
Primary unilateral adrenal hyperplasia is a medical condition that may be associated with various symptoms and signs....
Progeria-short stature-pigmented nevi syndrome
Progeria-short stature-pigmented nevi syndrome is a medical condition that may be associated with various symptoms and s...
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a medical condition that may be associated with var...
Progressive multifocal leukoencephalopathy
Progressive multifocal leukoencephalopathy is a medical condition that may be associated with various symptoms and signs...
Prolactinoma
Prolactinoma is a medical condition that may be associated with various symptoms and signs....
Prostate Cancer
Cancer of the prostate gland. Often slow-growing; treatment decisions depend on stage and risk....
Prostatitis
Inflammation or infection of the prostate gland causing pelvic pain, urinary symptoms, and sometimes fever....
Proximal myotonic myopathy
Proximal myotonic myopathy is a medical condition that may be associated with various symptoms and signs....
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy is a medical condition that may be associated with various symptoms and signs....
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1A is a medical condition that may be associated with various symptoms and signs....
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 1C is a medical condition that may be associated with various symptoms and signs....
Psoriasis
A chronic autoimmune skin condition causing rapid skin cell turnover and scaly, red patches, often on the elbows, knees,...
Pulmonary Embolism
A blockage in a lung artery, usually from a blood clot that travels from the legs, causing sudden chest pain and shortne...
Pulmonary alveolar microlithiasis
Pulmonary alveolar microlithiasis is a medical condition that may be associated with various symptoms and signs....
Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation is a medical condition that may be associated with various symptoms and signs....
Pulmonary non-tuberculous mycobacterial infection
Pulmonary non-tuberculous mycobacterial infection is a medical condition that may be associated with various symptoms an...
Pure mitochondrial myopathy
Pure mitochondrial myopathy is a medical condition that may be associated with various symptoms and signs....
Pyridoxine-dependent-developmental and epileptic encephalopathy
Pyridoxine-dependent-developmental and epileptic encephalopathy is a medical condition that may be associated with vario...
Q fever
Q fever is a medical condition that may be associated with various symptoms and signs....
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characterized by g...
Rabies
Rabies is a medical condition that may be associated with various symptoms and signs....
Radio-Tartaglia syndrome
A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disab...
Rajab interstitial lung disease with brain calcifications 1
Rajab interstitial lung disease with brain calcifications 1 is a medical condition that may be associated with various s...
Rasmussen subacute encephalitis
Rasmussen subacute encephalitis is a medical condition that may be associated with various symptoms and signs....
Rat-bite fever
Rat-bite fever is a medical condition that may be associated with various symptoms and signs....
ReNU syndrome
ReNU syndrome is a medical condition that may be associated with various symptoms and signs....
Reactive arthritis
Reactive arthritis is a medical condition that may be associated with various symptoms and signs....
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a me...
Recurrent respiratory papillomatosis
Recurrent respiratory papillomatosis is a medical condition that may be associated with various symptoms and signs....
Relapsing fever
Relapsing fever is a medical condition that may be associated with various symptoms and signs....
Relapsing polychondritis
Relapsing polychondritis is a medical condition that may be associated with various symptoms and signs....
Renal nutcracker syndrome
Renal nutcracker syndrome is a medical condition that may be associated with various symptoms and signs....
Respiratory bronchiolitis-interstitial lung disease syndrome
Respiratory bronchiolitis-interstitial lung disease syndrome is a medical condition that may be associated with various ...
Restless Legs Syndrome
An urge to move the legs, usually at night, often accompanied by uncomfortable sensations that improve with movement....
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is a medical condition that may be as...
Reversible cerebral vasoconstriction syndrome
Reversible cerebral vasoconstriction syndrome is a medical condition that may be associated with various symptoms and si...
Reynolds syndrome
Reynolds syndrome is a medical condition that may be associated with various symptoms and signs....
Rhabdoid tumor
Rhabdoid tumor is a medical condition that may be associated with various symptoms and signs....
Rheumatic fever
Rheumatic fever is a medical condition that may be associated with various symptoms and signs....
Rheumatoid Arthritis
A chronic autoimmune disease causing inflammation of joints, leading to pain, swelling, stiffness, and joint damage....
Riboflavin transporter deficiency
Riboflavin transporter deficiency is a medical condition that may be associated with various symptoms and signs....
Rift valley fever
Rift valley fever is a medical condition that may be associated with various symptoms and signs....
Ringworm
A fungal skin infection causing an itchy, ring-shaped rash, also known as tinea....
Rosacea
A chronic skin condition causing facial redness, flushing, and sometimes pimples or eye irritation....
Rotator Cuff Injury
Injury to the muscles and tendons around the shoulder joint causing pain, weakness, and reduced arm movement....
Rubinstein-Taybi syndrome 1
Rubinstein-Taybi syndrome 1 is a medical condition that may be associated with various symptoms and signs....
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion is a medical condition that may be associated with various sympto...
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations is a medical condition that may be associated with various symptoms an...
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is a medical condition that may be associated with various sym...
SAPHO syndrome
SAPHO syndrome is a medical condition that may be associated with various symptoms and signs....
STXBP1-related encephalopathy
STXBP1-related encephalopathy is a medical condition that may be associated with various symptoms and signs....
SUNCT syndrome
SUNCT syndrome is a medical condition that may be associated with various symptoms and signs....
Saethre-Chotzen syndrome
Saethre-Chotzen syndrome is a medical condition that may be associated with various symptoms and signs....
Sandhoff disease
A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, chara...
Sandhoff disease, juvenile form
Sandhoff disease, juvenile form is a medical condition that may be associated with various symptoms and signs....
Sarcoidosis
Sarcoidosis is a medical condition that may be associated with various symptoms and signs....
Scabies
A skin infestation caused by a tiny mite that burrows into the skin, causing intense itching and a pimple-like rash....
Schilder disease
Schilder disease is a medical condition that may be associated with various symptoms and signs....
Schimke immuno-osseous dysplasia
Schimke immuno-osseous dysplasia is a medical condition that may be associated with various symptoms and signs....
Schnitzler syndrome
Schnitzler syndrome is a medical condition that may be associated with various symptoms and signs....
Sciatica
Pain radiating along the sciatic nerve, from the lower back down the leg, often due to a herniated disc....
Scleromyxedema
Scleromyxedema is a medical condition that may be associated with various symptoms and signs....
Scorpion envenomation
Scorpion envenomation is a medical condition that may be associated with various symptoms and signs....
Scrub typhus
Scrub typhus is a medical condition that may be associated with various symptoms and signs....
Seasonal Affective Disorder
A type of depression related to changes in seasons, typically occurring in fall and winter....
Secondary hypoparathyroidism due to impaired parathormon secretion
Secondary hypoparathyroidism due to impaired parathormon secretion is a medical condition that may be associated with va...
Secondary intestinal lymphangiectasia
Secondary intestinal lymphangiectasia is a medical condition that may be associated with various symptoms and signs....
Self-limited epilepsy with centrotemporal spikes
Self-limited epilepsy with centrotemporal spikes is a medical condition that may be associated with various symptoms and...
Self-limited infantile epilepsy
Self-limited infantile epilepsy is a medical condition that may be associated with various symptoms and signs....
Self-limited neonatal epilepsy
Self-limited neonatal epilepsy is a medical condition that may be associated with various symptoms and signs....
Self-limited neonatal-infantile epilepsy
Self-limited neonatal-infantile epilepsy is a medical condition that may be associated with various symptoms and signs....
Semilobar holoprosencephaly
Semilobar holoprosencephaly is a medical condition that may be associated with various symptoms and signs....
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is a medical condition that may be associated with variou...
Sepsis
A life-threatening condition in which the body's response to infection damages its own tissues and organs....
Sepsis in premature infants
Sepsis in premature infants is a medical condition that may be associated with various symptoms and signs....
Serotonin syndrome
Serotonin syndrome is a medical condition that may be associated with various symptoms and signs....
Severe disseminated cytomegalovirus infection in immunocompetent patients
Severe disseminated cytomegalovirus infection in immunocompetent patients is a medical condition that may be associated ...
Severe generalized junctional epidermolysis bullosa
Severe generalized junctional epidermolysis bullosa is a medical condition that may be associated with various symptoms ...
Severe hemophilia A
Severe hemophilia A is a medical condition that may be associated with various symptoms and signs....
Sheehan syndrome
Sheehan syndrome is a medical condition that may be associated with various symptoms and signs....
Shiga toxin-associated hemolytic uremic syndrome
Shiga toxin-associated hemolytic uremic syndrome is a medical condition that may be associated with various symptoms and...
Shigellosis
Shigellosis is a medical condition that may be associated with various symptoms and signs....
Shingles
A painful rash caused by reactivation of the varicella-zoster virus, usually appearing as a band of blisters on one side...
Shortness of Breath
A feeling of being unable to catch your breath or get enough air, which can be sudden or gradual....
Sickle Cell Disease
An inherited blood disorder in which red blood cells become sickle-shaped, causing pain crises, anemia, and organ damage...
Simple cryoglobulinemia
Simple cryoglobulinemia is a medical condition that may be associated with various symptoms and signs....
Sinus Infection
Inflammation of the sinuses, often viral or bacterial, causing facial pressure, congestion, and headache....
Sjogren Syndrome
An autoimmune disease that primarily affects moisture-producing glands, causing dry eyes and dry mouth....
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behaviora...
Smith-Magenis syndrome
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturb...
Smith-Magenis syndrome
Smith-Magenis syndrome is a medical condition that may be associated with various symptoms and signs....
Snakebite envenomation
Snakebite envenomation is a medical condition that may be associated with various symptoms and signs....
Sneddon syndrome
Sneddon syndrome is a medical condition that may be associated with various symptoms and signs....
Solar urticaria
Solar urticaria is a medical condition that may be associated with various symptoms and signs....
Solitary fibrous tumor
Solitary fibrous tumor is a medical condition that may be associated with various symptoms and signs....
Somatomammotropinoma
Somatomammotropinoma is a medical condition that may be associated with various symptoms and signs....
Somatostatinoma
Somatostatinoma is a medical condition that may be associated with various symptoms and signs....
Sotos syndrome
Sotos syndrome is a medical condition that may be associated with various symptoms and signs....
Sotos syndrome
Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the ...
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a medical condition that may be associated with vario...
Spinal Stenosis
Narrowing of the spaces within the spine that can compress nerves, causing back pain, numbness, and weakness in the legs...
Spinal fast-flow vascular malformation
Spinal fast-flow vascular malformation is a medical condition that may be associated with various symptoms and signs....
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is a medical condition that may be associated with vario...
Spinocerebellar ataxia type 10
Spinocerebellar ataxia type 10 is a medical condition that may be associated with various symptoms and signs....
Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 36 is a medical condition that may be associated with various symptoms and signs....
Spinocerebellar ataxia type 42
Spinocerebellar ataxia type 42 is a medical condition that may be associated with various symptoms and signs....
Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia tarda is a medical condition that may be associated with various symptoms and signs....
Spontaneous periodic hypothermia
Spontaneous periodic hypothermia is a medical condition that may be associated with various symptoms and signs....
Sporadic infantile bilateral striatal necrosis
Sporadic infantile bilateral striatal necrosis is a medical condition that may be associated with various symptoms and s...
Sporadic pheochromocytoma/secreting paraganglioma
Sporadic pheochromocytoma/secreting paraganglioma is a medical condition that may be associated with various symptoms an...
Staphylococcal necrotizing pneumonia
Staphylococcal necrotizing pneumonia is a medical condition that may be associated with various symptoms and signs....
Steinert myotonic dystrophy
Steinert myotonic dystrophy is a medical condition that may be associated with various symptoms and signs....
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Steroid-responsive encephalopathy associated with autoimmune thyroiditis is a medical condition that may be associated w...
Stevens-Johnson syndrome
Stevens-Johnson syndrome is a medical condition that may be associated with various symptoms and signs....
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum is a medical condition that may be associated with various ...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and signs....
Stomach Cancer
Cancer of the stomach lining, which can cause abdominal pain, nausea, and unintended weight loss....
Stormorken syndrome
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, ...
Streptococcal Pharyngitis
A bacterial throat infection caused by group A streptococcus, characterized by severe sore throat, fever, and swollen to...
Stroke
Sudden interruption of blood flow to the brain, causing rapid loss of brain function. Time-critical medical emergency....
Superficial siderosis
Superficial siderosis is a medical condition that may be associated with various symptoms and signs....
Susac syndrome
Susac syndrome is a medical condition that may be associated with various symptoms and signs....
Swimmer's Ear
An infection of the outer ear canal, often from water staying in the ear, causing itching, pain, and discharge....
Symptomatic form of HFE-related hemochromatosis
Symptomatic form of HFE-related hemochromatosis is a medical condition that may be associated with various symptoms and ...
Synaptic congenital myasthenic syndrome
Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs....
Syphilis
A sexually transmitted bacterial infection that progresses in stages and can cause serious complications if untreated....
Systemic capillary leak syndrome
Systemic capillary leak syndrome is a medical condition that may be associated with various symptoms and signs....
Systemic lupus erythematosus
Systemic lupus erythematosus is a medical condition that may be associated with various symptoms and signs....
Systemic mastocytosis with associated hematologic neoplasm
Systemic mastocytosis with associated hematologic neoplasm is a medical condition that may be associated with various sy...
Systemic sclerosis
Systemic sclerosis is a medical condition that may be associated with various symptoms and signs....
TNF receptor 1-associated periodic fever syndrome
A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 t...
TSH-secreting pituitary adenoma
TSH-secreting pituitary adenoma is a medical condition that may be associated with various symptoms and signs....
Takayasu arteritis
Takayasu arteritis is a medical condition that may be associated with various symptoms and signs....
Tako-Tsubo cardiomyopathy
Tako-Tsubo cardiomyopathy is a medical condition that may be associated with various symptoms and signs....
Tay-Sachs disease
Tay-Sachs disease is a medical condition that may be associated with various symptoms and signs....
Tayoun-Maawali syndrome
Tayoun-Maawali syndrome is a medical condition that may be associated with various symptoms and signs....
Tennis Elbow
Pain and inflammation of the tendons on the outside of the elbow, often from repetitive arm and wrist motion....
Tension Headache
The most common type of headache, causing a dull, band-like pressure around the head....
Tessadori-Van Haaften neurodevelopmental syndrome 3
Tessadori-Van Haaften neurodevelopmental syndrome 3 is a medical condition that may be associated with various symptoms ...
Testicular Cancer
Cancer of the testicles, usually detected as a painless lump, most common in young and middle-aged men....
Thalassemia
An inherited blood disorder causing reduced hemoglobin and red blood cell production, leading to anemia and fatigue....
Thrombotic thrombocytopenic purpura
Thrombotic thrombocytopenic purpura is a medical condition that may be associated with various symptoms and signs....
Thrush (Candidiasis)
A fungal infection caused by Candida that can affect the mouth, throat, and other moist areas....
Thymic carcinoma
Thymic carcinoma is a medical condition that may be associated with various symptoms and signs....
Thymoma
Thymoma is a medical condition that may be associated with various symptoms and signs....
Thyroid Cancer
Cancer of the thyroid gland, which often presents as a painless neck lump or nodule....
Thyroid Nodules
Lumps that form in the thyroid gland. Most are benign, but some require evaluation to rule out cancer....
Thyroid ectopia
Thyroid ectopia is a medical condition that may be associated with various symptoms and signs....
Thyrotoxic periodic paralysis
Thyrotoxic periodic paralysis is a medical condition that may be associated with various symptoms and signs....
Tick-borne encephalitis
Tick-borne encephalitis is a medical condition that may be associated with various symptoms and signs....
Tinnitus
Perception of ringing, buzzing, or hissing in the ears without an external source....
Tonsillitis
Inflammation of the tonsils, often caused by viral or bacterial infection, causing sore throat, fever, and swollen tonsi...
Toxic epidermal necrolysis
Toxic epidermal necrolysis is a medical condition that may be associated with various symptoms and signs....
Tracheobronchopathia osteochondroplastica
Tracheobronchopathia osteochondroplastica is a medical condition that may be associated with various symptoms and signs....
Transient Ischemic Attack
A temporary episode of neurological dysfunction caused by a brief interruption of blood flow to the brain, often a warni...
Trichinellosis
Trichinellosis is a medical condition that may be associated with various symptoms and signs....
Trichomoniasis
A common sexually transmitted parasitic infection causing vaginal discharge, itching, and painful urination....
Trigeminal neuralgia
Trigeminal neuralgia is a medical condition that may be associated with various symptoms and signs....
Triple A syndrome
Triple A syndrome is a medical condition that may be associated with various symptoms and signs....
Tuberculosis
A bacterial infection that usually affects the lungs and can cause a chronic cough, fever, night sweats, and weight loss...
Tuberous sclerosis complex
Tuberous sclerosis complex is a medical condition that may be associated with various symptoms and signs....
Tubulointerstitial nephritis and uveitis syndrome
Tubulointerstitial nephritis and uveitis syndrome is a medical condition that may be associated with various symptoms an...
Tularemia
Tularemia is a medical condition that may be associated with various symptoms and signs....
Tumor necrosis factor receptor 1 associated periodic syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome is a medical condition that may be associated with various...
Turner syndrome
Turner syndrome is a medical condition that may be associated with various symptoms and signs....
Turner syndrome due to structural X chromosome anomalies
Turner syndrome due to structural X chromosome anomalies is a medical condition that may be associated with various symp...
Type 1 Diabetes
An autoimmune condition in which the pancreas stops producing insulin, usually beginning in childhood or young adulthood...
Type 2 Diabetes
A chronic condition in which the body becomes resistant to insulin or does not produce enough insulin to maintain normal...
Typhoid
Typhoid is a medical condition that may be associated with various symptoms and signs....
Typical nemaline myopathy
Typical nemaline myopathy is a medical condition that may be associated with various symptoms and signs....
Unilateral focal polymicrogyria
Unilateral focal polymicrogyria is a medical condition that may be associated with various symptoms and signs....
Unilateral polymicrogyria
Unilateral polymicrogyria is a medical condition that may be associated with various symptoms and signs....
Urinary Tract Infection
An infection of the bladder or urinary tract, more common in women, causing burning with urination, frequency, urgency, ...
Urticaria
Raised, itchy, red welts (hives) that appear on the skin, often as an allergic reaction, and usually resolve within a da...
Uveitis
Inflammation of the middle layer of the eye (uvea), causing eye pain, redness, and light sensitivity....
VIPoma
VIPoma is a medical condition that may be associated with various symptoms and signs....
VISS syndrome
VISS syndrome is a medical condition that may be associated with various symptoms and signs....
Variegate porphyria
Variegate porphyria is a medical condition that may be associated with various symptoms and signs....
Vascular Ehlers-Danlos syndrome
Vascular Ehlers-Danlos syndrome is a medical condition that may be associated with various symptoms and signs....
Vasculitis
Inflammation of the blood vessels, which can affect any organ and cause a wide range of symptoms including fever, fatigu...
Vasculopathy, retinal, with cerebral leukodystrophy
Vasculopathy, retinal, with cerebral leukodystrophy is a medical condition that may be associated with various symptoms ...
Vertigo
The sensation of spinning or movement when still, often due to inner ear or neurological conditions....
Visual snow syndrome
Visual snow syndrome is a medical condition that may be associated with various symptoms and signs....
Vitamin B12 Deficiency
Insufficient vitamin B12 can cause anemia and neurological symptoms including numbness, tingling, balance problems, and ...
Vitamin D Deficiency
Insufficient vitamin D levels, which can affect bone health, immune function, and mood....
Vocal cord and pharyngeal distal myopathy
Vocal cord and pharyngeal distal myopathy is a medical condition that may be associated with various symptoms and signs....
Vogt-Koyanagi-Harada disease
Vogt-Koyanagi-Harada disease is a medical condition that may be associated with various symptoms and signs....
Von Hippel-Lindau disease
Von Hippel-Lindau disease is a medical condition that may be associated with various symptoms and signs....
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is a medical condition that may be ...
Waldenström macroglobulinemia
Waldenström macroglobulinemia is a medical condition that may be associated with various symptoms and signs....
Whipple disease
Whipple disease is a medical condition that may be associated with various symptoms and signs....
White-Sutton syndrome
White-Sutton syndrome is a medical condition that may be associated with various symptoms and signs....
White-Sutton syndrome
White-Sutton syndrome is a medical condition that may be associated with various symptoms and signs....
Whooping Cough
A highly contagious respiratory infection causing severe coughing fits followed by a whooping sound....
Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome is a medical condition that may be associated with various symptoms and signs....
Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreas...
Williams syndrome
Williams syndrome is a medical condition that may be associated with various symptoms and signs....
Williams syndrome
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalie...
Wilson disease
Wilson disease is a medical condition that may be associated with various symptoms and signs....
Wilson disease
A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular...
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome is a medical condition that may be associated with various symptoms and signs....
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, inf...
Wound botulism
Wound botulism is a medical condition that may be associated with various symptoms and signs....
X-linked Alport syndrome-diffuse leiomyomatosis
X-linked Alport syndrome-diffuse leiomyomatosis is a medical condition that may be associated with various symptoms and ...
X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita is a medical condition that may be associated with various symptoms and signs....
X-linked agammaglobulinemia
X-linked agammaglobulinemia is a medical condition that may be associated with various symptoms and signs....
X-linked alpha-thalassemia-intellectual disability syndrome
X-linked alpha-thalassemia-intellectual disability syndrome is a medical condition that may be associated with various s...
X-linked cerebral adrenoleukodystrophy
X-linked cerebral adrenoleukodystrophy is a medical condition that may be associated with various symptoms and signs....
X-linked diffuse leiomyomatosis-Alport syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural...
X-linked intellectual disability, Cantagrel type
An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, sev...
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome is a medical condition tha...
Xeroderma pigmentosum
Xeroderma pigmentosum is a medical condition that may be associated with various symptoms and signs....
Xia-Gibbs syndrome
Xia-Gibbs syndrome is a medical condition that may be associated with various symptoms and signs....
Xq28 (MECP2) duplication
Xq28 (MECP2) duplication is a medical condition that may be associated with various symptoms and signs....
Yao syndrome
An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extrem...
Yellow fever
Yellow fever is a medical condition that may be associated with various symptoms and signs....
Young-onset Parkinson disease
Young-onset Parkinson disease is a medical condition that may be associated with various symptoms and signs....
ZTTK syndrome
ZTTK syndrome is a medical condition that may be associated with various symptoms and signs....
Zika virus disease
Zika virus disease is a medical condition that may be associated with various symptoms and signs....
Zollinger-Ellison syndrome
Zollinger-Ellison syndrome is a medical condition that may be associated with various symptoms and signs....
Zygomycosis
Zygomycosis is a medical condition that may be associated with various symptoms and signs....
acute intermittent porphyria
Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is charac...
adrenoleukodystrophy
A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic par...
alpha-methylacyl-CoA racemase deficiency
A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched ch...
amyloidosis, hereditary systemic 1
amyloidosis, hereditary systemic 1 is a medical condition that may be associated with various symptoms and signs....
amyotrophic lateral sclerosis type 21
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene....
aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with c...
autoinflammation and autoimmunity with immune dysregulation 2
autoinflammation and autoimmunity with immune dysregulation 2 is a medical condition that may be associated with various...
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive is a medical condition that may be associat...
autoinflammatory disease, systemic, with vasculitis
autoinflammatory disease, systemic, with vasculitis is a medical condition that may be associated with various symptoms ...
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
autoinflammatory syndrome, familial, X-linked, Behcet-like 2 is a medical condition that may be associated with various ...
autosomal recessive Parkinson disease 14
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-...
autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle...
basal ganglia calcification, idiopathic, 11, autosomal recessive
basal ganglia calcification, idiopathic, 11, autosomal recessive is a medical condition that may be associated with vari...
basal ganglia calcification, idiopathic, 5
basal ganglia calcification, idiopathic, 5 is a medical condition that may be associated with various symptoms and signs...
biliary, renal, neurologic, and skeletal syndrome
biliary, renal, neurologic, and skeletal syndrome is a medical condition that may be associated with various symptoms an...
biotin-responsive basal ganglia disease
Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, chara...
biotinidase deficiency
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is charac...
brain small vessel disease 1 with or without ocular anomalies
Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene....
brain small vessel disease 6 with leukoencephalopathy
brain small vessel disease 6 with leukoencephalopathy is a medical condition that may be associated with various symptom...
branched-chain keto acid dehydrogenase kinase deficiency
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectu...
cardiofaciocutaneous syndrome 1
Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene....
cardiomyopathy, dilated, 3C
cardiomyopathy, dilated, 3C is a medical condition that may be associated with various symptoms and signs....
celiac disease, susceptibility to, 1
celiac disease, susceptibility to, 1 is a medical condition that may be associated with various symptoms and signs....
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autoso...
cerebellar dysfunction with variable cognitive and behavioral abnormalities
Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia ty...
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 is a medical condition t...
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characte...
chromosome 15q24 deletion syndrome
15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chr...
chromosome 1p36 deletion syndrome
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellect...
chromosome 1q21.1 deletion syndrome
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but...
chromosome 2p16.3 deletion syndrome
chromosome 2p16.3 deletion syndrome is a medical condition that may be associated with various symptoms and signs....
coenzyme Q10 deficiency, primary, 1
Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene....
combined oxidative phosphorylation deficiency 54
combined oxidative phosphorylation deficiency 54 is a medical condition that may be associated with various symptoms and...
congenital afibrinogenemia
Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circu...
congenital disorder of glycosylation, type IIcc
congenital disorder of glycosylation, type IIcc is a medical condition that may be associated with various symptoms and ...
congenital generalized lipodystrophy type 4
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene....
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondri...
congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent ax...
congenital myasthenic syndrome 1A
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene....
congenital myasthenic syndrome 20
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene....
congenital myasthenic syndrome 4A
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive m...
congenital myasthenic syndrome 5
Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail pep...
congenital myasthenic syndrome 6
Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inher...
congenital myasthenic syndrome 9
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene....
congenital myopathy 10b, mild variant
congenital myopathy 10b, mild variant is a medical condition that may be associated with various symptoms and signs....
congenital myopathy 22A, classic
congenital myopathy 22A, classic is a medical condition that may be associated with various symptoms and signs....
congenital myopathy 23
Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene....
congenital myopathy 25
congenital myopathy 25 is a medical condition that may be associated with various symptoms and signs....
congenital myopathy 26
congenital myopathy 26 is a medical condition that may be associated with various symptoms and signs....
congenital myopathy 4A, autosomal dominant
congenital myopathy 4A, autosomal dominant is a medical condition that may be associated with various symptoms and signs...
congenital myopathy 7A, myosin storage, autosomal dominant
congenital myopathy 7A, myosin storage, autosomal dominant is a medical condition that may be associated with various sy...
congenital prothrombin deficiency
Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin...
craniofaciocardiohepatic syndrome
craniofaciocardiohepatic syndrome is a medical condition that may be associated with various symptoms and signs....
cyclic vomiting syndrome
A rare functional disorder characterized by recurrent, stereotypical episodes of severe nausea and vomiting separated by...
deficiency of adenosine deaminase 2
A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-...
developmental and epileptic encephalopathy 100
developmental and epileptic encephalopathy 100 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 102
developmental and epileptic encephalopathy 102 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 103
developmental and epileptic encephalopathy 103 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 104
developmental and epileptic encephalopathy 104 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 108
developmental and epileptic encephalopathy 108 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 109
developmental and epileptic encephalopathy 109 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 112
developmental and epileptic encephalopathy 112 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 114
developmental and epileptic encephalopathy 114 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 116
developmental and epileptic encephalopathy 116 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 118
developmental and epileptic encephalopathy 118 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported variants ...
developmental and epileptic encephalopathy 120
developmental and epileptic encephalopathy 120 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 121
developmental and epileptic encephalopathy 121 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy 6B
developmental and epileptic encephalopathy 6B is a medical condition that may be associated with various symptoms and si...
developmental and epileptic encephalopathy 91
developmental and epileptic encephalopathy 91 is a medical condition that may be associated with various symptoms and si...
developmental and epileptic encephalopathy 94
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and a...
developmental and epileptic encephalopathy 99
developmental and epileptic encephalopathy 99 is a medical condition that may be associated with various symptoms and si...
developmental and epileptic encephalopathy, 13
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene....
developmental and epileptic encephalopathy, 14
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene....
developmental and epileptic encephalopathy, 19
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene....
developmental and epileptic encephalopathy, 2
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene....
developmental and epileptic encephalopathy, 24
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene....
developmental and epileptic encephalopathy, 28
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene....
developmental and epileptic encephalopathy, 31A
Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 ...
developmental and epileptic encephalopathy, 51
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene....
developmental and epileptic encephalopathy, 56
developmental and epileptic encephalopathy, 56 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy, 63
developmental and epileptic encephalopathy, 63 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy, 66
developmental and epileptic encephalopathy, 66 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy, 6A
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene....
developmental and epileptic encephalopathy, 74
developmental and epileptic encephalopathy, 74 is a medical condition that may be associated with various symptoms and s...
developmental and epileptic encephalopathy, 9
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or...
developmental delay with or without epilepsy
developmental delay with or without epilepsy is a medical condition that may be associated with various symptoms and sig...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associated with va...
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is a medical condition...
epilepsy, early-onset, 3, with or without developmental delay
epilepsy, early-onset, 3, with or without developmental delay is a medical condition that may be associated with various...
epilepsy, familial temporal lobe, 1
An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein...
epilepsy, idiopathic generalized, susceptibility to, 9
Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene....
episodic ataxia type 3
Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, verti...
episodic ataxia type 6
Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia an...
episodic ataxia, type 9
episodic ataxia, type 9 is a medical condition that may be associated with various symptoms and signs....
facioscapulohumeral muscular dystrophy 1
Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelom...
factor XIII, A subunit, deficiency of
factor XIII, A subunit, deficiency of is a medical condition that may be associated with various symptoms and signs....
familial cold autoinflammatory syndrome 1
Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene....
familial cold autoinflammatory syndrome 2
An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in ...
familial hemophagocytic lymphohistiocytosis 2
Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene....
focal segmental glomerulosclerosis and neurodevelopmental syndrome
A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephr...
fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset pr...
frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene....
generalized epilepsy with febrile seizures plus, type 2
Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene....
glycosylphosphatidylinositol biosynthesis defect 18
glycosylphosphatidylinositol biosynthesis defect 18 is a medical condition that may be associated with various symptoms ...
granulomatosis with polyangiitis
A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and ...
hemophilia B
Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency....
hereditary fructose intolerance
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a defici...
hereditary spastic paraplegia 12
Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childho...
hereditary spastic paraplegia 7
Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usual...
hyper-IgM syndrome type 1
The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only h...
hyperphosphatasia with intellectual disability syndrome 3
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene...
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent...
immunodeficiency 125
immunodeficiency 125 is a medical condition that may be associated with various symptoms and signs....
immunodeficiency 131
immunodeficiency 131 is a medical condition that may be associated with various symptoms and signs....
immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy
immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy is a medical condition that may be ...
immunodeficiency 82 with systemic inflammation
A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well ...
immunodeficiency 91 and hyperinflammation
An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by b...
inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and ...
intellectual developmental disorder with autism and macrocephaly
intellectual developmental disorder with autism and macrocephaly is a medical condition that may be associated with vari...
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a medical condition that may ...
intellectual developmental disorder with polymicrogyria and seizures
intellectual developmental disorder with polymicrogyria and seizures is a medical condition that may be associated with ...
intellectual developmental disorder, X-linked, syndromic 37
intellectual developmental disorder, X-linked, syndromic 37 is a medical condition that may be associated with various s...
intellectual developmental disorder, autosomal dominant 76
intellectual developmental disorder, autosomal dominant 76 is a medical condition that may be associated with various sy...
intellectual developmental disorder, autosomal dominant 77
intellectual developmental disorder, autosomal dominant 77 is a medical condition that may be associated with various sy...
intellectual developmental disorder, autosomal recessive 83
intellectual developmental disorder, autosomal recessive 83 is a medical condition that may be associated with various s...
intellectual developmental disorder, autosomal recessive 84
intellectual developmental disorder, autosomal recessive 84 is a medical condition that may be associated with various s...
intellectual disability, X-linked, syndromic 33
Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene....
intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 ...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVE...
intellectual disability, autosomal dominant 52
intellectual disability, autosomal dominant 52 is a medical condition that may be associated with various symptoms and s...
intellectual disability, autosomal dominant 54
intellectual disability, autosomal dominant 54 is a medical condition that may be associated with various symptoms and s...
intellectual disability, autosomal dominant 55, with seizures
intellectual disability, autosomal dominant 55, with seizures is a medical condition that may be associated with various...
intellectual disability, autosomal dominant 57
intellectual disability, autosomal dominant 57 is a medical condition that may be associated with various symptoms and s...
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy is a medical condition that may be associate...
leukodystrophy, hypomyelinating, 15
leukodystrophy, hypomyelinating, 15 is a medical condition that may be associated with various symptoms and signs....
leukoencephalopathy without lacunae, adult-onset
leukoencephalopathy without lacunae, adult-onset is a medical condition that may be associated with various symptoms and...
lissencephaly 10
lissencephaly 10 is a medical condition that may be associated with various symptoms and signs....
liver disease, severe congenital
liver disease, severe congenital is a medical condition that may be associated with various symptoms and signs....
methylcobalamin deficiency type cblG
Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino a...
methylmalonic aciduria and homocystinuria type cblC
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterize...
microcephalic osteodysplastic primordial dwarfism type I
A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutat...
microcephaly, epilepsy, and diabetes syndrome 1
microcephaly, epilepsy, and diabetes syndrome 1 is a medical condition that may be associated with various symptoms and ...
microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia
microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia is a medical condition that may be as...
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome is a medical condition ...
migraine, familial hemiplegic, 1
migraine, familial hemiplegic, 1 is a medical condition that may be associated with various symptoms and signs....
migraine, familial hemiplegic, 2
Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene....
mitochondrial DNA deletion syndrome with progressive myopathy
mitochondrial DNA deletion syndrome with progressive myopathy is a medical condition that may be associated with various...
mitochondrial DNA depletion syndrome 1
mitochondrial DNA depletion syndrome 1 is a medical condition that may be associated with various symptoms and signs....
mitochondrial DNA depletion syndrome 13
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene....
mitochondrial DNA depletion syndrome 4a
A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the tri...
mitochondrial DNA depletion syndrome 4b
mitochondrial DNA depletion syndrome 4b is a medical condition that may be associated with various symptoms and signs....
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated with various ...
mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement o...
mitochondrial DNA depletion syndrome 8a
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene....
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the associ...
mitochondrial complex I deficiency, nuclear type 1
mitochondrial complex I deficiency, nuclear type 1 is a medical condition that may be associated with various symptoms a...
mitochondrial complex I deficiency, nuclear type 29
mitochondrial complex I deficiency, nuclear type 29 is a medical condition that may be associated with various symptoms ...
mitochondrial complex III deficiency nuclear type 2
Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene....
mitochondrial complex IV deficiency, nuclear type 1
Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SURF1 gene....
mitochondrial complex IV deficiency, nuclear type 23
Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX11 gene....
mitochondrial dna depletion syndrome 21
mitochondrial dna depletion syndrome 21 is a medical condition that may be associated with various symptoms and signs....
multiple congenital anomalies-hypotonia-seizures syndrome 2
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mut...
multiple mitochondrial dysfunctions syndrome 10
multiple mitochondrial dysfunctions syndrome 10 is a medical condition that may be associated with various symptoms and ...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characteriz...
muscular dystrophy, congenital, with or without seizures
muscular dystrophy, congenital, with or without seizures is a medical condition that may be associated with various symp...
muscular dystrophy, limb-girdle, autosomal recessive 28
muscular dystrophy, limb-girdle, autosomal recessive 28 is a medical condition that may be associated with various sympt...
muscular dystrophy, limb-girdle, autosomal recessive 29
muscular dystrophy, limb-girdle, autosomal recessive 29 is a medical condition that may be associated with various sympt...
muscular dystrophy-dystroglycanopathy type B5
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable pen...
myasthenic syndrome, congenital, 1B, fast-channel
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progr...
myofibrillar myopathy 1
A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal pr...
myofibrillar myopathy 2
Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene....
myofibrillar myopathy 6
Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyop...
myopathy, distal, 7, adult-onset, X-linked
myopathy, distal, 7, adult-onset, X-linked is a medical condition that may be associated with various symptoms and signs...
myopathy, myofibrillar, 13, with rimmed vacuoles
A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor ...
myopathy, myofibrillar, 9, with early respiratory failure
myopathy, myofibrillar, 9, with early respiratory failure is a medical condition that may be associated with various sym...
nemaline myopathy 2
An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypoto...
nemaline myopathy 5C, autosomal dominant
nemaline myopathy 5C, autosomal dominant is a medical condition that may be associated with various symptoms and signs....
nemaline myopathy 7
Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene....
neuroblastoma, susceptibility to, 1
neuroblastoma, susceptibility to, 1 is a medical condition that may be associated with various symptoms and signs....
neurocardiorenal malformation syndrome
neurocardiorenal malformation syndrome is a medical condition that may be associated with various symptoms and signs....
neurodegeneration with ataxia and late-onset optic atrophy
neurodegeneration with ataxia and late-onset optic atrophy is a medical condition that may be associated with various sy...
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early developme...
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may be associ...
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima is a medical condition that may be associated w...
neurodevelopmental disorder with ataxia and brain abnormalities
neurodevelopmental disorder with ataxia and brain abnormalities is a medical condition that may be associated with vario...
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities
neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities is a medical condition that may be associat...
neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities
neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities is a medical con...
neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities
neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities is a medical c...
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures is a medical condition that may be ass...
neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities is a medical condition that may b...
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities is a medical con...
neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech
neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech is a medical condition that...
neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities is a medical condi...
neurodevelopmental disorder with hypotonia and dysmorphic facies
neurodevelopmental disorder with hypotonia and dysmorphic facies is a medical condition that may be associated with vari...
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures is a medical condition that may be...
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
A neurodevelopmental syndrome caused by a variation in the UNC13A gene, characterized by hypotonia, epilepsy, and absent...
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures is a medical c...
neurodevelopmental disorder with hypotonia, neuropathy, and deafness
neurodevelopmental disorder with hypotonia, neuropathy, and deafness is a medical condition that may be associated with ...
neurodevelopmental disorder with impaired language and ataxia and with or without seizures
neurodevelopmental disorder with impaired language and ataxia and with or without seizures is a medical condition that m...
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies is a medical conditi...
neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
A neurodevelopmental disorder caused by mutation in ESAM gene. It is characterized by prenatal or neonatal onset of intr...
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures is a medical cond...
neurodevelopmental disorder with parkinsonism or other movement abnormalities
neurodevelopmental disorder with parkinsonism or other movement abnormalities is a medical condition that may be associa...
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities is a medical condition that may be assoc...
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies is a medical condition that m...
neurodevelopmental disorder with progressive movement abnormalities
neurodevelopmental disorder with progressive movement abnormalities is a medical condition that may be associated with v...
neurodevelopmental disorder with progressive spasticity and brain abnormalities
neurodevelopmental disorder with progressive spasticity and brain abnormalities is a medical condition that may be assoc...
neurodevelopmental disorder with seizures and impaired intellectual and language development
neurodevelopmental disorder with seizures and impaired intellectual and language development is a medical condition that...
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements is a medical condition that may be ass...
neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities is a medical condition that may be asso...
neurodevelopmental disorder with spasticity and poor growth
neurodevelopmental disorder with spasticity and poor growth is a medical condition that may be associated with various s...
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of development...
neurodevelopmental disorder with variable familial hypercholanemia
neurodevelopmental disorder with variable familial hypercholanemia is a medical condition that may be associated with va...
neurodevelopmental disorder with white matter abnormalities and gait disturbance
neurodevelopmental disorder with white matter abnormalities and gait disturbance is a medical condition that may be asso...
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 is a medical condition that may be associa...
neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity is a medical condition that may be associ...
neuronopathy, distal hereditary motor, autosomal recessive 7
neuronopathy, distal hereditary motor, autosomal recessive 7 is a medical condition that may be associated with various ...
oculopharyngeal muscular dystrophy 2
oculopharyngeal muscular dystrophy 2 is a medical condition that may be associated with various symptoms and signs....
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 1 is a medical condition that may be associated with various symptoms and signs....
oculopharyngodistal myopathy 3
oculopharyngodistal myopathy 3 is a medical condition that may be associated with various symptoms and signs....
oculopharyngodistal myopathy 4
oculopharyngodistal myopathy 4 is a medical condition that may be associated with various symptoms and signs....
oculopharyngodistal myopathy 5
oculopharyngodistal myopathy 5 is a medical condition that may be associated with various symptoms and signs....
optic atrophy 12
optic atrophy 12 is a medical condition that may be associated with various symptoms and signs....
osteootohepatoenteric syndrome
osteootohepatoenteric syndrome is a medical condition that may be associated with various symptoms and signs....
periodic fever-infantile enterocolitis-autoinflammatory syndrome
periodic fever-infantile enterocolitis-autoinflammatory syndrome is a medical condition that may be associated with vari...
peroxisome biogenesis disorder 1A (Zellweger)
peroxisome biogenesis disorder 1A (Zellweger) is a medical condition that may be associated with various symptoms and si...
peroxisome biogenesis disorder 5A (Zellweger)
peroxisome biogenesis disorder 5A (Zellweger) is a medical condition that may be associated with various symptoms and si...
pigmented nodular adrenocortical disease, primary, 4
Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene....
polyglucosan body myopathy 1 with or without immunodeficiency
A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting wi...
polyglucosan body myopathy type 2
Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene....
primary erythermalgia
Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneous...
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG ...
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutatio...
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutatio...
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG...
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 is a medical condition that...
progressive familial intrahepatic cholestasis type 1
PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile form...
proteasome-associated autoinflammatory syndrome 1
proteasome-associated autoinflammatory syndrome 1 is a medical condition that may be associated with various symptoms an...
renal hypomagnesemia 3
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a f...
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss is a medical condition that may be associ...
respiratory infections, recurrent, and failure to thrive with or without diarrhea
respiratory infections, recurrent, and failure to thrive with or without diarrhea is a medical condition that may be ass...
sarcoidosis, susceptibility to, 1
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene....
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and oph...
spastic paraplegia 92, autosomal recessive
spastic paraplegia 92, autosomal recessive is a medical condition that may be associated with various symptoms and signs...
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive...
spinocerebellar ataxia 48
spinocerebellar ataxia 48 is a medical condition that may be associated with various symptoms and signs....
spinocerebellar ataxia 52
spinocerebellar ataxia 52 is a medical condition that may be associated with various symptoms and signs....
spinocerebellar ataxia type 29
Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) ch...
syndromic X-linked intellectual disability Lubs type
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq...
systemic lupus erythematosus 18
Any systemic lupus erythematosus in which the cause of the disease is a variation in the PLD4 gene....
systemic primary carnitine deficiency disease
Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized clas...
telangiectasia, hereditary hemorrhagic, type 1
telangiectasia, hereditary hemorrhagic, type 1 is a medical condition that may be associated with various symptoms and s...
telangiectasia, hereditary hemorrhagic, type 2
Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene....
trichorhinophalangeal syndrome type II
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenita...
triosephosphate isomerase deficiency
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic ...
von Willebrand disease 1
Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a parti...
von Willebrand disease 3
Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associate...