Autoimmune & Inflammatory
Behçet Disease
Behçet Disease is a rare, chronic, recurrent vasculitis causing painful oral and genital ulcers, eye inflammation, and s...
Key Symptoms
Dermatomyositis
Dermatomyositis is a rare autoimmune inflammatory disease causing muscle weakness and distinctive skin rashes, particula...
Key Symptoms
Eosinophilic Granulomatosis with Polyangiitis
Eosinophilic granulomatosis with polyangiitis (EGPA, formerly Churg-Strauss syndrome) is a systemic necrotizing vasculit...
Key Symptoms
Giant Cell Arteritis
Giant Cell Arteritis is a rare inflammatory disease of large and medium-sized arteries, primarily affecting people over ...
Key Symptoms
Goodpasture Syndrome
Goodpasture syndrome is a rare autoimmune vasculitis affecting kidneys and lungs caused by autoantibodies against baseme...
Key Symptoms
Granulomatosis with Polyangiitis
Granulomatosis with Polyangiitis is a rare autoimmune disease causing inflammation of small and medium blood vessels in ...
Key Symptoms
IgG4-Related Disease
IgG4-related disease is a chronic fibroinflammatory condition characterized by tumor-like swelling in affected organs, d...
Key Symptoms
Mixed Connective Tissue Disease
Mixed connective tissue disease is a rare autoimmune disorder with features overlapping systemic lupus erythematosus, sy...
Key Symptoms
Multiple Sclerosis
Multiple sclerosis is a chronic autoimmune disease where the immune system attacks the protective myelin sheath surround...
Key Symptoms
Neuromyelitis Optica
Neuromyelitis Optica (NMO) is a rare inflammatory autoimmune disorder of the central nervous system characterized by rec...
Key Symptoms
Sjögren's Syndrome
Sjögren's syndrome is a chronic autoimmune disorder in which the immune system attacks the moisture-producing exocrine g...
Key Symptoms
Systemic Juvenile Idiopathic Arthritis
Systemic juvenile idiopathic arthritis is a severe autoinflammatory disease characterized by daily spiking fevers, a sal...
Key Symptoms
Systemic Sclerosis
Systemic sclerosis (scleroderma) is a rare autoimmune disease in which the immune system triggers scarring (fibrosis) of...
Key Symptoms
Takayasu Arteritis
Takayasu Arteritis is a rare chronic inflammatory disease of large arteries, particularly the aorta and its branches, ca...
Key Symptoms
Blood & Immune
Aplastic Anemia
Aplastic anemia is a rare bone marrow failure syndrome characterized by pancytopenia resulting from absent or severely r...
Key Symptoms
Chronic Graft-versus-Host Disease
Chronic graft-versus-host disease is an immune-mediated complication after allogeneic stem cell or bone marrow transplan...
Key Symptoms
Chronic Granulomatous Disease
Chronic granulomatous disease is a rare inherited immunodeficiency affecting the ability of neutrophils to produce react...
Key Symptoms
Cold Agglutinin Disease
Cold agglutinin disease is a rare autoimmune hemolytic anemia caused by IgM autoantibodies that bind red blood cells in ...
Key Symptoms
Common Variable Immunodeficiency
Common variable immunodeficiency is a primary immunodeficiency disorder characterized by low levels of immunoglobulins a...
Key Symptoms
Congenital Athymia
Congenital athymia is an ultra-rare condition in which a baby is born without a functioning thymus gland, the organ esse...
Key Symptoms
Diamond-Blackfan Anemia
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome characterized by selective reduction of red blo...
Key Symptoms
Essential Thrombocythemia
Essential Thrombocythemia is a myeloproliferative neoplasm characterized by overproduction of platelets by bone marrow, ...
Key Symptoms
Factor V Deficiency
Factor V deficiency is a rare inherited bleeding disorder caused by deficiency or dysfunction of coagulation factor V. T...
Key Symptoms
Fanconi Anemia
Fanconi anemia is a rare inherited bone marrow failure syndrome with cellular hypersensitivity to DNA crosslinking agent...
Key Symptoms
Hemophilia A
Hemophilia A is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor VIII. Severity depe...
Key Symptoms
Hemophilia B
Hemophilia B is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor IX. Clinically indi...
Key Symptoms
Heparin-Induced Thrombocytopenia
Heparin-induced thrombocytopenia is a serious immune-mediated reaction to heparin, one of the most commonly used blood t...
Key Symptoms
Hereditary Angioedema
Hereditary Angioedema is a rare genetic disorder characterized by sudden, severe swelling (angioedema) of skin and mucou...
Key Symptoms
Immune Thrombocytopenia
Immune thrombocytopenia (ITP) is a rare autoimmune disorder in which the immune system destroys platelets, the blood cel...
Key Symptoms
Light Chain Amyloidosis
Light Chain Amyloidosis is a rare, serious blood disorder caused by plasma cells producing misfolded immunoglobulin ligh...
Key Symptoms
Mastocytosis
Mastocytosis is a rare hematological disorder characterized by clonal expansion of mast cells in bone marrow, organs, an...
Key Symptoms
Myelodysplastic Syndromes
Myelodysplastic syndromes are a group of blood cancers in which the bone marrow fails to produce enough healthy blood ce...
Key Symptoms
Myelofibrosis
Myelofibrosis is a myeloproliferative neoplasm in which bone marrow develops scarring (fibrosis), leading to anemia, enl...
Key Symptoms
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria is a rare, life-threatening blood disorder where complement-mediated destruction of ...
Key Symptoms
Polycythemia Vera
Polycythemia Vera is a myeloproliferative neoplasm in which bone marrow produces too many red blood cells, leading to th...
Key Symptoms
Severe Combined Immunodeficiency
Severe combined immunodeficiency is a rare genetic disorder affecting both T cell and B cell immune function, resulting ...
Key Symptoms
Sickle Cell Disease
Sickle cell disease is an inherited blood disorder where hemoglobin polymerizes under low oxygen, causing red blood cell...
Key Symptoms
Systemic Mastocytosis
Systemic Mastocytosis is a rare hematologic disorder characterized by accumulation and proliferation of abnormal mast ce...
Key Symptoms
Thalassemia
Thalassemia is an inherited blood disorder where reduced or absent production of one type of hemoglobin chain causes sev...
Key Symptoms
Von Willebrand Disease
Von Willebrand disease is the most common inherited bleeding disorder, caused by quantitative or qualitative deficiency ...
Key Symptoms
Waldenström Macroglobulinemia
Waldenström Macroglobulinemia is a rare blood cancer in which malignant B-lymphocytes produce excessive amounts of a pro...
Key Symptoms
Wiskott-Aldrich Syndrome
Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency characterized by thrombocytopenia, eczema, and recurrent in...
Key Symptoms
Cardiovascular
Arrhythmogenic Cardiomyopathy
Arrhythmogenic cardiomyopathy is a rare genetic heart disease characterized by replacement of cardiac myocardium with fi...
Key Symptoms
Barth Syndrome
Barth syndrome is an ultra-rare X-linked genetic disorder caused by mutations in the TAFAZZIN gene, which produces an en...
Key Symptoms
Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia is a rare genetic arrhythmia syndrome causing life-threatening bid...
Key Symptoms
Dilated Cardiomyopathy
Dilated cardiomyopathy is a condition where the heart's main pumping chamber, the left ventricle, becomes enlarged and w...
Key Symptoms
Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy is a genetic heart muscle disease characterized by inappropriate left ventricular h...
Key Symptoms
Hereditary Hemorrhagic Telangiectasia
Hereditary Hemorrhagic Telangiectasia is a rare genetic disorder characterized by abnormal blood vessel formation (telan...
Key Symptoms
Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia is a severe genetic disorder causing extremely high cholesterol levels from bir...
Key Symptoms
Kawasaki Disease
Kawasaki disease is an acute self-limited vasculitis of medium-sized arteries affecting primarily children under 5 years...
Key Symptoms
Moyamoya Disease
Moyamoya Disease is a rare, progressive cerebrovascular disorder characterized by abnormal narrowing of major blood vess...
Key Symptoms
Peripartum Cardiomyopathy
Peripartum cardiomyopathy is a rare form of heart failure that develops during the last month of pregnancy or within 5 m...
Key Symptoms
Wild-Type ATTR Cardiac Amyloidosis
Wild-type ATTR cardiac amyloidosis is an age-related disease where normal transthyretin protein spontaneously misfolds a...
Key Symptoms
Connective Tissue & Musculoskeletal
Achondroplasia
Achondroplasia is the most common form of short-limbed dwarfism, caused by a mutation in the FGFR3 gene that disrupts th...
Key Symptoms
Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is a group of genetic connective tissue disorders characterized by abnormal collagen synthesis or...
Key Symptoms
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare genetic disorder characterized by progressive heterotop...
Key Symptoms
Hajdu-Cheney Syndrome
Hajdu-Cheney syndrome is a rare genetic skeletal dysplasia characterized by acroosteolysis (loss of terminal phalanges a...
Key Symptoms
Marfan Syndrome
Marfan syndrome is an autosomal dominant genetic disorder affecting connective tissue throughout the body, caused by mut...
Key Symptoms
Osteogenesis Imperfecta
Osteogenesis imperfecta is a genetic disorder affecting type I collagen synthesis or structure, causing bones to break e...
Key Symptoms
Stickler Syndrome
Stickler syndrome is a rare inherited connective tissue disorder caused by mutations affecting type II collagen or relat...
Key Symptoms
Vascular Ehlers-Danlos Syndrome
Vascular EDS is a rare genetic disorder affecting connective tissue that causes fragility in arteries and internal organ...
Key Symptoms
Dermatologic
Bullous Pemphigoid
Bullous pemphigoid is an autoimmune blistering disorder caused by autoantibodies against basement membrane proteins, par...
Key Symptoms
Epidermolysis Bullosa
Epidermolysis bullosa is a group of rare genetic blistering disorders caused by mutations affecting proteins anchoring t...
Key Symptoms
Linear IgA Disease
Linear IgA disease is a rare autoimmune blistering disorder characterized by linear IgA deposits along the basement memb...
Key Symptoms
Morphea
Morphea is a localized form of scleroderma characterized by hardened patches of skin with hyperpigmentation or hypopigme...
Key Symptoms
Pemphigus Vulgaris
Pemphigus Vulgaris is a rare, potentially life-threatening autoimmune blistering disorder where the body produces antibo...
Key Symptoms
Porphyria Cutanea Tarda
Porphyria cutanea tarda is the most common porphyria, characterized by deficiency in uroporphyrinogen decarboxylase lead...
Key Symptoms
Endocrine & Hormonal
Acromegaly
Acromegaly is a rare hormonal disorder caused by excessive growth hormone production, typically from a pituitary adenoma...
Key Symptoms
Addison Disease
Addison Disease is a rare endocrine disorder in which the adrenal glands fail to produce adequate cortisol and aldostero...
Key Symptoms
Central Diabetes Insipidus
Central diabetes insipidus results from deficiency of antidiuretic hormone (vasopressin) due to pituitary or hypothalami...
Key Symptoms
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia comprises rare autosomal recessive disorders of cortisol synthesis. Over 90% result from ...
Key Symptoms
Cushing Disease
Cushing Disease is a rare endocrine disorder caused by an ACTH-secreting pituitary adenoma that leads to excessive corti...
Key Symptoms
Familial Medullary Thyroid Carcinoma
Familial medullary thyroid carcinoma is an autosomal dominant cancer predisposition syndrome caused by germline RET muta...
Key Symptoms
Graves’ Disease
Graves' disease is the most common cause of hyperthyroidism, an autoimmune condition where antibodies stimulate the thyr...
Key Symptoms
Hypoparathyroidism
Hypoparathyroidism is an endocrine disorder caused by insufficient production of parathyroid hormone (PTH), resulting in...
Key Symptoms
MCT8 Deficiency
MCT8 deficiency, also called Allan-Herndon-Dudley syndrome, is a rare X-linked disorder in which thyroid hormone cannot ...
Key Symptoms
Multiple Endocrine Neoplasia Type 1
Multiple endocrine neoplasia type 1 is an autosomal dominant syndrome characterized by tumors of the parathyroid, pancre...
Key Symptoms
Pheochromocytoma
Pheochromocytoma is a rare neuroendocrine tumor arising from chromaffin cells of the adrenal medulla that produces exces...
Key Symptoms
X-Linked Hypophosphatemia
X-Linked Hypophosphatemia is a rare genetic bone disorder where the body cannot properly regulate phosphate levels, lead...
Key Symptoms
Eye & Vision
Geographic Atrophy
Geographic atrophy is the advanced form of dry age-related macular degeneration, characterized by progressive loss of re...
Key Symptoms
Leber Congenital Amaurosis
Leber congenital amaurosis is a group of rare inherited retinal dystrophies that cause severe vision loss or blindness f...
Key Symptoms
Retinitis Pigmentosa
Retinitis pigmentosa is a group of inherited retinal dystrophies causing progressive degeneration of the photoreceptor l...
Key Symptoms
Stargardt Disease
Stargardt disease is the most common inherited macular dystrophy, caused primarily by mutations in the ABCA4 gene that l...
Key Symptoms
Thyroid Eye Disease
Thyroid eye disease (TED) is a rare autoimmune condition in which the immune system attacks the muscles and fat behind t...
Key Symptoms
Gastrointestinal
Autoimmune Hepatitis
Autoimmune Hepatitis (AIH) is a chronic liver disease characterized by persistent inflammation and progressive fibrosis ...
Key Symptoms
Eosinophilic Esophagitis
Eosinophilic Esophagitis is a rare allergic/immune-mediated inflammatory disease of the esophagus characterized by eosin...
Key Symptoms
Hereditary Diffuse Gastric Cancer
Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome caused by germline CDH1 mutati...
Key Symptoms
Primary Biliary Cholangitis
Primary Biliary Cholangitis (PBC) is a chronic autoimmune liver disease in which the immune system mistakenly attacks th...
Key Symptoms
Primary Sclerosing Cholangitis
Primary Sclerosing Cholangitis (PSC) is a rare chronic liver disease characterized by inflammation and progressive scarr...
Key Symptoms
Short Bowel Syndrome
Short Bowel Syndrome is a rare condition resulting from surgical removal or congenital absence of a significant portion ...
Key Symptoms
Kidney & Renal
Alport Syndrome
Alport Syndrome is a genetic disorder that causes progressive damage to the kidneys, ears, and eyes due to defects in a ...
Key Symptoms
Atypical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome (aHUS) is a rare kidney disease caused by uncontrolled activation of the complement s...
Key Symptoms
C3 Glomerulopathy
C3 glomerulopathy is a group of rare kidney diseases caused by dysregulation of the alternative complement pathway, lead...
Key Symptoms
Focal Segmental Glomerulosclerosis
Focal Segmental Glomerulosclerosis (FSGS) is a kidney disease characterized by scarring of some glomeruli, the tiny filt...
Key Symptoms
IgA Nephropathy
IgA nephropathy is the most common primary glomerulonephritis worldwide, caused by abnormal IgA1 antibodies depositing i...
Key Symptoms
IgA Vasculitis with Nephritis
IgA vasculitis is a small-vessel vasculitis characterized by IgA immune complex deposition in kidneys and other organs. ...
Key Symptoms
Membranous Nephropathy
Membranous nephropathy is a rare autoimmune kidney disease where the body's own antibodies attack proteins in the kidney...
Key Symptoms
Polycystic Kidney Disease
Polycystic Kidney Disease is a genetic disorder characterized by the growth of thousands of cysts in the kidneys, gradua...
Key Symptoms
Primary Hyperoxaluria
Primary hyperoxaluria is a rare inherited metabolic disorder in which the liver overproduces oxalate, a substance that c...
Key Symptoms
Liver & Hepatic
Alagille Syndrome
Alagille syndrome is a rare autosomal dominant disorder affecting the liver, heart, skeleton, face, and eyes. The condit...
Key Symptoms
Progressive Familial Intrahepatic Cholestasis
Progressive familial intrahepatic cholestasis comprises a group of rare inherited disorders causing progressive cholesta...
Key Symptoms
Metabolic & Lysosomal
Aceruloplasminemia
Aceruloplasminemia is a rare inherited disorder of iron metabolism caused by mutations in the CP gene encoding cerulopla...
Key Symptoms
ATTR Amyloidosis (Transthyretin Amyloidosis)
ATTR amyloidosis is a rare progressive disease where abnormal transthyretin protein accumulates as amyloid deposits in t...
Key Symptoms
Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder caused by mutations in the CYP27A1 gene, whi...
Key Symptoms
Fabry Disease
Fabry disease is a rare inherited lysosomal storage disorder where a missing enzyme causes fatty substances called globo...
Key Symptoms
Familial Chylomicronemia Syndrome
Familial Chylomicronemia Syndrome is a rare inherited metabolic disorder where the body cannot break down certain fats (...
Key Symptoms
Galactosemia
Galactosemia is a rare autosomal recessive disorder of galactose metabolism caused by galactose-1-phosphate uridyltransf...
Key Symptoms
Gaucher Disease
Gaucher disease is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase, re...
Key Symptoms
Glycogen Storage Disease Type II
Glycogen Storage Disease Type II (GSD II, also called Pompe Disease) is a lysosomal storage disorder caused by deficienc...
Key Symptoms
Homocystinuria
Homocystinuria is a rare inherited metabolic disorder characterized by elevated homocysteine levels in blood and urine. ...
Key Symptoms
Hunter Syndrome
Hunter syndrome is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase enzyme, leading ...
Key Symptoms
Krabbe Disease
Krabbe Disease is a rare lysosomal storage disorder caused by deficiency of the enzyme galactocerebrosidase (GALC), whic...
Key Symptoms
Leigh Syndrome
Leigh syndrome is a rare inherited disorder in which the mitochondria, the parts of cells that make energy, cannot suppl...
Key Symptoms
Maple Syrup Urine Disease
Maple syrup urine disease is a rare inherited metabolic disorder where the body cannot properly break down branched-chai...
Key Symptoms
Maple Syrup Urine Disease Type II
Maple syrup urine disease type II is an intermediate-severity form of a rare organic acidemia caused by branched-chain a...
Key Symptoms
Menkes Disease
Menkes disease is a rare X-linked recessive disorder caused by mutations in the ATP7A gene, which encodes a copper-trans...
Key Symptoms
Metachromatic Leukodystrophy
Metachromatic Leukodystrophy (MLD) is a lysosomal storage disorder resulting from deficiency of the enzyme arylsulfatase...
Key Symptoms
Methylmalonic Acidemia
Methylmalonic acidemia is a group of inherited metabolic disorders in which the body cannot properly break down certain ...
Key Symptoms
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type I (MPS I) is a lysosomal storage disorder caused by deficiency of the enzyme alpha-L-iduronid...
Key Symptoms
Mucopolysaccharidosis Type IVA
Mucopolysaccharidosis Type IVA (Morquio A syndrome) is a lysosomal storage disorder caused by deficiency of the enzyme N...
Key Symptoms
Mucopolysaccharidosis Type VI
Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by deficiency of the enzy...
Key Symptoms
Niemann-Pick Disease
Niemann-Pick disease is a rare lysosomal storage disorder where the body cannot properly break down cholesterol and othe...
Key Symptoms
Phenylketonuria
Phenylketonuria is an inherited metabolic disorder caused by a missing enzyme that prevents the body from properly break...
Key Symptoms
Pompe Disease
Pompe disease is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase, ...
Key Symptoms
Sanfilippo Syndrome
Sanfilippo syndrome, formally mucopolysaccharidosis type III (MPS III), is a lysosomal storage disorder in which the bod...
Key Symptoms
Tay-Sachs Disease
Tay-Sachs disease is a rare autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme hexosamini...
Key Symptoms
Tyrosinemia Type I
Tyrosinemia type I is a rare autosomal recessive disorder of tyrosine metabolism caused by fumarylacetoacetate hydrolase...
Key Symptoms
Urea Cycle Disorders
Urea Cycle Disorders (UCDs) are a group of genetic conditions affecting the enzymes that convert toxic ammonia to urea f...
Key Symptoms
Wilson Disease
Wilson disease is a rare inherited disorder of copper metabolism caused by mutations in the ATP7B gene. The body cannot ...
Key Symptoms
Neurological & Neuromuscular
Alexander Disease
Alexander disease is a rare inherited leukodystrophy caused by mutations in the GFAP gene affecting astrocyte function. ...
Key Symptoms
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease destroying motor neurons in the brain and spina...
Key Symptoms
Angelman Syndrome
Angelman Syndrome is a rare neurological disorder caused by loss of function of the UBE3A gene on the maternal chromosom...
Key Symptoms
Aromatic L-Amino Acid Decarboxylase Deficiency
AADC deficiency is a rare inherited neurological disorder that affects the brain's ability to produce dopamine and serot...
Key Symptoms
Ataxia-Telangiectasia
Ataxia-telangiectasia (A-T) is a rare inherited disorder in which the ATM gene, which coordinates DNA repair, does not w...
Key Symptoms
Batten Disease
Batten disease is a rare inherited neurological disorder caused by mutations in genes affecting lysosomal function, lead...
Key Symptoms
Becker Muscular Dystrophy
Becker Muscular Dystrophy (BMD) is an X-linked inherited muscular dystrophy caused by mutations in the dystrophin gene t...
Key Symptoms
Canavan Disease
Canavan disease is a rare autosomal recessive leukodystrophy caused by mutations in the ASPA gene affecting aspartoacyla...
Key Symptoms
CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is a severe genetic condition that causes early-onset seizures, usually beginning within the f...
Key Symptoms
Cerebral Adrenoleukodystrophy
Cerebral adrenoleukodystrophy is the most severe form of X-linked adrenoleukodystrophy, caused by mutations in the ABCD1...
Key Symptoms
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) is the most common inherited disease of the peripheral nervous system. The peripheral ...
Key Symptoms
Chronic Inflammatory Demyelinating Polyneuropathy
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is an autoimmune disorder affecting the peripheral nerves, caus...
Key Symptoms
Corticobasal Degeneration
Corticobasal degeneration is a rare neurodegenerative disorder characterized by asymmetric cortical and basal ganglia pa...
Key Symptoms
Dravet Syndrome
Dravet Syndrome is a severe form of epilepsy that typically begins in infancy with prolonged seizures triggered by fever...
Key Symptoms
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is an X-linked genetic disorder causing progressive muscle weakness and degeneration, beginn...
Key Symptoms
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy (FSHD) is an inherited muscular dystrophy characterized by progressive weakness o...
Key Symptoms
Focal Epilepsy
Focal epilepsy is a neurological disorder characterized by recurrent seizures that originate in a specific area of the b...
Key Symptoms
Fragile X Syndrome
Fragile X Syndrome is the most common inherited cause of intellectual disability and autism spectrum disorder. It result...
Key Symptoms
Friedreich Ataxia
Friedreich ataxia is an autosomal recessive neurodegenerative disease causing progressive damage to the nervous system, ...
Key Symptoms
Guillain-Barré Syndrome
Guillain-Barré syndrome is a rare autoimmune neurological disorder in which the body's immune system attacks the periphe...
Key Symptoms
Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia (HSP) refers to a group of genetic neurological disorders characterized by progressive wea...
Key Symptoms
Hereditary Spastic Paraplegia Type 4
Spastic paraplegia type 4 is a rare inherited neurological disorder causing progressive stiffness and weakness of the lo...
Key Symptoms
Huntington Disease
Huntington disease is an autosomal dominant neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in...
Key Symptoms
Inherited Erythromelalgia
Inherited erythromelalgia is a rare autosomal dominant pain disorder caused by gain-of-function mutations in the SCN9A g...
Key Symptoms
KCNT1-Related Epilepsy
KCNT1-related epilepsy is a group of rare genetic epilepsies caused by changes in the KCNT1 gene, which makes a potassiu...
Key Symptoms
Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare neuromuscular disorder caused by autoimmune attack on the synaptic te...
Key Symptoms
Lennox-Gastaut Syndrome
Lennox-Gastaut Syndrome is a severe childhood epilepsy characterized by multiple types of seizures that are often resist...
Key Symptoms
Limb-Girdle Muscular Dystrophy
Limb-Girdle Muscular Dystrophy (LGMD) refers to a genetically heterogeneous group of muscular dystrophies characterized ...
Key Symptoms
Multiple System Atrophy
Multiple system atrophy is a rare, progressive neurodegenerative disorder characterized by dysfunction of the autonomic ...
Key Symptoms
Myasthenia Gravis
Myasthenia gravis is a chronic autoimmune neuromuscular disorder causing muscle weakness and rapid fatigue. Antibodies a...
Key Symptoms
Myotonic Dystrophy
Myotonic Dystrophy (MD) is the most common muscular dystrophy in adults, characterized by progressive muscle weakness an...
Key Symptoms
Narcolepsy Type 1
Narcolepsy type 1 is a chronic neurologic disorder caused by loss of hypocretin-producing neurons, resulting in severe d...
Key Symptoms
Neurofibromatosis Type 1
Neurofibromatosis type 1 is a genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes neuro...
Key Symptoms
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C (NPC) is a rare, progressive lysosomal lipid storage disorder caused by mutations in the NPC...
Key Symptoms
Phelan-McDermid Syndrome
Phelan-McDermid Syndrome results from deletions or mutations of the SHANK3 gene on chromosome 22q13, leading to intellec...
Key Symptoms
Prader-Willi Syndrome
Prader-Willi Syndrome is a rare genetic disorder affecting chromosome 15 that results in weak muscle tone, low hormone l...
Key Symptoms
Progressive Supranuclear Palsy
Progressive supranuclear palsy is a rare atypical Parkinsonian disorder characterized by progressive vertical supranucle...
Key Symptoms
Rett Syndrome
Rett syndrome is a rare genetic neurological disorder affecting brain development, almost exclusively in girls. After no...
Key Symptoms
Spinal Muscular Atrophy
Spinal muscular atrophy is an autosomal recessive genetic disorder affecting motor neurons in the spinal cord, causing p...
Key Symptoms
Spinocerebellar Ataxia
Spinocerebellar ataxias are a group of inherited neurodegenerative disorders caused by mutations in various genes, leadi...
Key Symptoms
Stiff Person Syndrome
Stiff Person Syndrome (SPS) is a rare neurological disorder characterized by progressive stiffness and rigidity of the t...
Key Symptoms
Thymidine Kinase 2 Deficiency
Thymidine Kinase 2 Deficiency (TK2d) is an ultra-rare inherited mitochondrial disease caused by mutations in the TK2 gen...
Key Symptoms
Usher Syndrome
Usher syndrome is an inherited condition combining hearing loss and progressive vision loss, eventually leading to deaf-...
Key Symptoms
Other
22q11.2 Deletion Syndrome
22q11.2 deletion syndrome results from a microdeletion on chromosome 22, causing a spectrum of phenotypes including card...
Key Symptoms
Cri du Chat Syndrome
Cri du chat syndrome results from a partial deletion of the short arm of chromosome 5, characterized by distinctive high...
Key Symptoms
Noonan Syndrome
Noonan syndrome is a common autosomal dominant disorder caused by RAS/MAPK pathway mutations, characterized by distincti...
Key Symptoms
Progeria
Progeria is an extremely rare genetic disorder causing rapid aging in children. A single point mutation in the LMNA gene...
Key Symptoms
Sarcoidosis
Sarcoidosis is an inflammatory disease characterized by formation of granulomas (clusters of immune cells) in multiple o...
Key Symptoms
Tuberous Sclerosis
Tuberous sclerosis is an autosomal dominant genetic disorder caused by mutations in TSC1 or TSC2 genes, resulting in dys...
Key Symptoms
Turner Syndrome
Turner syndrome results from complete or partial absence of an X chromosome in females, causing short stature, gonadal d...
Key Symptoms
Williams Syndrome
Williams syndrome is a rare genetic condition caused by a 7q11.23 deletion including the elastin gene, characterized by ...
Key Symptoms
Pulmonary & Respiratory
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is a genetic disorder affecting the lungs and liver, caused by insufficient production of...
Key Symptoms
Cystic Fibrosis
Cystic fibrosis is an autosomal recessive genetic disorder affecting the CFTR protein, which normally regulates chloride...
Key Symptoms
Hypersensitivity Pneumonitis
Hypersensitivity pneumonitis is an inflammatory lung disease caused by repeated inhalation of antigens triggering immune...
Key Symptoms
Idiopathic Pulmonary Fibrosis
Idiopathic pulmonary fibrosis is a chronic, progressive lung disease characterized by scarring (fibrosis) of lung tissue...
Key Symptoms
Lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease characterized by proliferation of abnormal smooth musc...
Key Symptoms
Pulmonary Arterial Hypertension
Pulmonary arterial hypertension is a rare disease characterized by abnormally high blood pressure in the pulmonary arter...
Key Symptoms
Pulmonary Langerhans Cell Histiocytosis
Pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare inflammatory lung disease characterized by accumulation and pro...
Key Symptoms
Recurrent Respiratory Papillomatosis
Recurrent respiratory papillomatosis (RRP) is a rare disease in which wart-like growths caused by HPV types 6 and 11 gro...
Key Symptoms
Rare Cancers
Adrenocortical Carcinoma
Adrenocortical carcinoma is a rare, aggressive cancer of the adrenal cortex, the outer layer of the adrenal glands that ...
Key Symptoms
Cholangiocarcinoma
Cholangiocarcinoma is a rare and aggressive cancer that forms in the bile ducts, the thin tubes that carry digestive flu...
Key Symptoms
Desmoplastic Small Round Cell Tumor
Desmoplastic small round cell tumor is a rare aggressive sarcoma characterized by EWSR1-WT1 fusion and dense desmoplasia...
Key Symptoms
Diffuse Intrinsic Pontine Glioma
Diffuse intrinsic pontine glioma (DIPG) is an aggressive childhood brain tumor that grows in the pons, the part of the b...
Key Symptoms
Gastrointestinal Stromal Tumor
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, arising fr...
Key Symptoms
Hodgkin Lymphoma
Hodgkin lymphoma is a cancer of the lymphatic system characterized by the presence of abnormal Reed-Sternberg cells. It ...
Key Symptoms
Medullary Thyroid Cancer
Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor arising from the parafollicular C cells of the thyroid gla...
Key Symptoms
Merkel Cell Carcinoma
Merkel cell carcinoma is a rare, aggressive skin cancer that arises from Merkel cells, specialized touch receptors in th...
Key Symptoms
Mesothelioma
Mesothelioma is a rare, aggressive cancer that develops in the mesothelium, the thin layer of tissue covering most inter...
Key Symptoms
NTRK Fusion Cancer
NTRK fusion cancers are a group of rare tumors driven by gene fusions involving 1 of 3 NTRK genes (NTRK1, NTRK2, or NTRK...
Key Symptoms
Paraganglioma
Paragangliomas are rare neuroendocrine tumors arising from chromaffin tissue outside the adrenal medulla. Often heredita...
Key Symptoms
RET Fusion Cancer
RET fusion cancers are a group of rare tumors driven by chromosomal rearrangements that fuse the RET gene with a partner...
Key Symptoms
Tick-Borne & Infectious
Alpha-Gal Syndrome
Alpha-Gal Syndrome (AGS) is a tick-bite-triggered IgE allergy to galactose-α-1,3-galactose, a sugar molecule found in no...
Key Symptoms
Anaplasmosis
Anaplasmosis is a rare tick-borne disease caused by the bacterium Anaplasma phagocytophilum, which infects white blood c...
Key Symptoms
Babesiosis
Babesiosis is a rare tick-borne disease caused by Babesia parasites that infect and destroy red blood cells. Transmitted...
Key Symptoms
Bartonella Infection
Bartonella infections are caused by a group of intracellular bacteria that can affect the blood vessels, liver, spleen, ...
Key Symptoms