Explore drug discovery landscapes

Motor neuron disease

Congenital diaphragmatic hernia

Charcot-Marie-Tooth disease type 1

CLN3 disease

Myotonic dystrophy

Spinocerebellar ataxia type 3

Congenital muscular dystrophy

Myotonic syndrome

Rett syndrome

Narcolepsy

Neuromyelitis optica spectrum disorder

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

Angelman syndrome

Multiple system atrophy

Frontotemporal dementia

Becker muscular dystrophy

MELAS

Hereditary spastic paraplegia

Behavioral variant of frontotemporal dementia

Oculopharyngeal muscular dystrophy

Pelizaeus-Merzbacher disease

Spinocerebellar ataxia type 1

Friedreich ataxia

Facioscapulohumeral dystrophy

Mitochondrial myopathy

Steinert myotonic dystrophy

NMDA receptor encephalitis

Duchenne and Becker muscular dystrophy

Charcot-Marie-Tooth disease type 1A

CLN2 disease

Aicardi-Goutières syndrome

Laminin subunit alpha 2-related congenital muscular dystrophy

Autosomal dominant cerebellar ataxia

Corticobasal syndrome

Dysferlin-related limb-girdle muscular dystrophy R2

Spinocerebellar ataxia type 7

Spinocerebellar ataxia type 2

Collagen VI-related congenital muscular dystrophy

Lennox-Gastaut syndrome

Neuronal ceroid lipofuscinosis

Trigeminal neuralgia

CDKL5-deficiency disorder

Progressive supranuclear palsy

Mitochondrial disease

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Gaucher disease type 1

Cystinosis

Mucopolysaccharidosis type 3

Sanfilippo syndrome type C

Hurler syndrome

Barth syndrome

Acute hepatic porphyria

Mucopolysaccharidosis type 4

Glycogen storage disease due to acid maltase deficiency

Fabry disease

Niemann-Pick disease type C

Gaucher disease

Disorder of bile acid synthesis

Mucopolysaccharidosis type 4A

Classic galactosemia

Autosomal erythropoietic protoporphyria

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

Fucosidosis

Sanfilippo syndrome type A

Acute intermittent porphyria

Mucopolysaccharidosis type 10

Phenylketonuria

Mucopolysaccharidosis type 2

Tay-Sachs disease

GM2 gangliosidosis

B-cell non-Hodgkin lymphoma

Rhabdoid tumor

Anaplastic thyroid carcinoma

Myeloproliferative neoplasm

Burkitt lymphoma

Malignant tumor of penis

Rare tumor of pancreas

Medulloblastoma

Adrenocortical carcinoma

Chondrosarcoma

Uveal melanoma

Malignant peripheral nerve sheath tumor

Von Hippel-Lindau disease

Primary cutaneous lymphoma

Systemic mastocytosis

Adenocarcinoma of the esophagus

Rare thyroid carcinoma

Malignant tumor of fallopian tubes

Chordoma

Adult T-cell leukemia/lymphoma

Gastroenteropancreatic neuroendocrine neoplasm

Cutaneous neuroendocrine carcinoma

Extranodal nasal NK/T cell lymphoma

Hepatoblastoma

Pseudomyxoma peritonei

Squamous cell carcinoma of the oral cavity

Diffuse intrinsic pontine glioma

Primary peritoneal carcinoma

Myelodysplastic neoplasm with increased blasts

Precursor T-cell acute lymphoblastic leukemia

Soft tissue sarcoma

Mantle cell lymphoma

Precursor B-cell acute lymphoblastic leukemia

Indolent B-cell non-Hodgkin lymphoma

Angioimmunoblastic T-cell lymphoma

Classic Hodgkin lymphoma

Medullary thyroid carcinoma

Waldenström macroglobulinemia

Shwachman-Diamond syndrome

Thrombotic thrombocytopenic purpura

Beta-thalassemia major

Shiga toxin-associated hemolytic uremic syndrome

Rare acquired aplastic anemia

Bernard-Soulier syndrome

Sickle cell disease and related diseases

Paroxysmal nocturnal hemoglobinuria

Essential thrombocythemia

Von Willebrand disease

Severe hemophilia A

Alpha-thalassemia

Catecholaminergic polymorphic ventricular tachycardia

Inherited arrhythmogenic cardiomyopathy

Primary immunodeficiency

Dyskeratosis congenita

Common variable immunodeficiency

Chronic granulomatous disease

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Wiskott-Aldrich syndrome

X-linked hyper-IgM syndrome

Hereditary angioedema with C1Inh deficiency

Wild type ATTR amyloidosis

Anti-neutrophil cytoplasmic antibody-associated vasculitis

Anti-glomerular basement membrane disease

Hereditary angioedema type 1

Juvenile idiopathic arthritis

Kawasaki disease

Juvenile dermatomyositis

Hereditary ATTR amyloidosis

Familial Mediterranean fever

Dermatomyositis

Adult-onset Still disease

Marburg hemorrhagic fever

Herpes simplex virus encephalitis

Amoebic keratitis

Botulism

Ebola hemorrhagic fever

Fragile X syndrome

Hutchinson-Gilford progeria syndrome

Alagille syndrome

Phelan-McDermid syndrome

Prader-Willi syndrome

Obesity due to congenital leptin deficiency

Familial chylomicronemia syndrome

Congenital adrenal hyperplasia

Cushing disease

Cushing syndrome due to ectopic ACTH secretion

Congenital generalized lipodystrophy

Obesity due to leptin receptor gene deficiency

Familial lipoprotein lipase deficiency

Obesity due to melanocortin 4 receptor deficiency

Primary adrenal insufficiency

Ichthyosis

Pseudoxanthoma elasticum

Xeroderma pigmentosum

Dystrophic epidermolysis bullosa

Severe generalized junctional epidermolysis bullosa

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Netherton syndrome

Fibrodysplasia ossificans progressiva

Osteogenesis imperfecta

Hypophosphatasia

Achondroplasia

Retinopathy of prematurity

Inherited retinal disorder

Autosomal dominant optic atrophy

Choroideremia

Leber congenital amaurosis

Infectious posterior uveitis

Central retinal vein occlusion

Stargardt disease

Limbal stem cell deficiency

Necrotizing enterocolitis

Rare pancreatic disease

Familial adenomatous polyposis

Pouchitis

Thrombotic microangiopathy

Alport syndrome

Idiopathic nephrotic syndrome

Hemolytic uremic syndrome

Primary membranous glomerulonephritis

C3 glomerulopathy

Primary hyperoxaluria

Primary hyperoxaluria type 1

Progressive familial intrahepatic cholestasis

Bronchopulmonary dysplasia

Lymphangioleiomyomatosis

Primary ciliary dyskinesia

Recurrent respiratory papillomatosis

Chronic thromboembolic pulmonary hypertension

Idiopathic pulmonary arterial hypertension

Sudden sensorineural hearing loss

Complications after hematopoietic stem cell transplantation