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The IUPHAR/BPS Meebo-online.info complete disease list

All diseases described in GtoPdb.

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Disease name Synonyms Targets Ligands
A Back to top
ABCD syndrome 1 0
Abdominal obesity-metabolic syndrome 1; AOMS1 Metabolic syndrome X 2 0
Abdominal obesity-metabolic syndrome 3; AOMS3 1 0
Abnormal pregnancies 1 0
Absence epilepsy early onset absence epilepsy 2 0
Acatalasemia acatalasia | catalase deficiency | Takahara disease 1 0
Acetyl-CoA acetyltransferase-2 deficiency; ACAT2D 1 0
Achondroplasia 1 0
Achromatopsia 2; ACHM2 Achromatopsia 1 0
Achromatopsia 3; ACHM3 Achromatopsia 1 0
Acne inversa, familial, 3; ACNINV3 Hidradenitis suppurativa 1 0
Acne vulgaris adult acne 0 1
Acrodermatitis enteropathica 1 0
Acrodysostosis 1 with or without hormone resistance; ACRDYS1 Acrodysostosis | Acrodysostosis with multiple hormone resistance 1 0
Acromegaly 1 0
Acromesomelia and painful neuropathy acromesomelic dysplasia | neuropathy 1 0
Activated PI3K delta syndrome APDS/PASLI | Immunodeficiency 14 | p110 delta activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency 1 3
Acute biphenotypic leukemia 1 0
Acute encephalopathy with biphasic seizures and late reduced diffusion 1 0
Acute lymphocytic leukemia (ALL) Acute lymphoblastic leukemia 3 2
Acute myeloblastic leukemia with maturation 2 0
Acute myeloblastic leukemia without maturation 1 0
Acute myeloid leukemia Acute myelogenous leukemia 6 5
Acute myeloid leukemia with abnormal bone marrow eosinophils 2 0
Acute myeloid leukemia with t(8;16)(p11;p13) translocation 1 0
Acute myeloid leukemia with t(8;21)(q22;q22) translocation 2 0
Acute myelomonocytic leukemia 1 0
Acute pancreatitis 0 1
Acute promyelocytic leukemia; APL 1 0
Addison disease Hypoadrenocorticism, familial 1 0
Adolescent idiopathic scoliosis 1 0
Adrenal hypoplasia, congenital; AHC Addison's disease | Adrenal hypoplasia, cytomegalic type | Cytomegalic congenital adrenal hypoplasia | hypoadrenalism | primary/chronic adrenal insufficiency 1 0
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency | Congenital adrenal insufficiency 1 0
Adrenocortical insufficiency 1 0
Adult T-cell leukemia Adult T-cell leukemia/lymphoma | ATLL 0 1
Advanced sleep-phase syndrome, familial, 2; FASPS2 Advanced sleep phase syndrome | Familial advanced sleep-phase syndrome 1 0
Agammaglobulinemia, autosomal recessive agammaglobulinemia 7 | agammaglobulinemia, non-Bruton type | AGM7 1 0
Agammaglobulinemia 6, Autosomal recessive; AGM6 Agammaglobulinemia | Autosomal agammaglobulinemia 1 0
Agammaglobulinemia, X-linked Bruton-type agammaglobulinemia 1 0
Alagille syndrome 2; ALGS2 Alagille syndrome | Alagille syndrome due to a NOTCH2 point mutation 1 0
Aland Island eye disease; AIED 1 0
Alcohol dependence 6 0
Alcoholic liver disease alcoholic hepatosteatosis 1 0
Alcohol sensitivity acetaldehyde dehydrogenase deficiency | alcohol flush reaction 1 0
Aldosterone-producing adenoma 1 0
Aleukemic mast cell leukemia 1 0
ALK-positive anaplastic large cell lymphoma Anaplastic large cell lymphoma 1 0
ALK-positive large B-cell lymphoma 1 0
Allergic conjunctivitis 0 8
Allergic rhinitis atopic rhinitis | hay fever | Non-seasonal allergic rhinitis | Perenial allergic rhinitis | pollenosis | seasonal allergic rhinitis 0 13
Allergic urticaria hives 0 10
Allograft rejection 1 4
Alopecia areata circumscribed alopecia 0 2
Alpha-1 antitrypsin deficiency (A1ATD) 1 0
Alpha-methylacetoacetic aciduria Beta-ketothiolase deficiency 1 0
Alternating hemiplegia of childhood 1; AHC1 Alternating hemiplegia of childhood 1 0
Alzheimer disease Alzheimer's disease 8 0
Alzheimer disease 3 Alzheimer's disease | Early-onset autosomal dominant Alzheimer disease 1 0
Alzheimer disease 4 Alzheimer's disease | Early-onset autosomal dominant Alzheimer disease 1 0
Amelogenesis imperfecta, hypomaturation type, IIA1; AI2A1 Amelogenesis imperfecta | Hypomaturation amelogenesis imperfecta 1 0
Amelogenesis imperfecta, hypomaturation type, IIA2; AI2A2 Amelogenesis imperfecta | Hypomaturation amelogenesis imperfecta 1 0
Amelogenesis imperfecta, hypomaturation type, IIA5; AI2A5 Amelogenesis imperfecta | Hypomaturation amelogenesis imperfecta 1 0
Amyotrophic lateral sclerosis 3 0
Amyotrophic lateral sclerosis 19; ALS19 Amyotrophic lateral sclerosis 1 0
Amyotrophic lateral sclerosis 16, juvenile; ALS16 Juvenile amyotrophic lateral sclerosis 1 0
Amyotrophic lateral sclerosis-parkinsonism-dementia complex 2 0
Amyotrophic lateral sclerosis with frontotemporal dementia 1 0
Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia; ALS22 Amyotrophic lateral sclerosis 1 0
Anaphylactic shock hypersensitivity reaction disease 0 1
Anaplastic large cell lymphoma 0 1
Andersen-Tawil syndrome Andersen cardiodysrhythmic periodic paralysis | Andersen's syndrome | Andersen syndrome | Cardiodysrhythmic potassium-sensitive periodic paralysis 1 0
Androgen insensitivity syndrome; AIS Complete androgen insensitivity syndrome 1 0
Angelman syndrome 2 0
Angina pectoris 1 0
Angioedema, hereditary, type III; HAE3 Hereditary angioedema | Hereditary angioedema type 3 1 0
Angioedema induced by ACE inhibitors, susceptibility to; AEACEI Renin-angiotensin-aldosterone system-blocker-induced angioedema 1 0
Ankylosing spondylitis Bekhterev syndrome | Marie-Strumpell disease 0 14
Anosmia, isolated congenital; ANIC Congenital anosmia 1 0
Antiphospholipid syndrome 1 0
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 1 0
Anxiety 3 0
Aortic aneurysm, familial abdominal, 1; AAA1 Familial abdominal aortic aneurysm | Familial thoracic aortic aneurysm and aortic dissection 1 0
Aortic aneurysm, familial thoracic 7; AAT7 Familial thoracic aortic aneurysm and aortic dissection | thoracic aortic aneurysm 1 0
Aortic aneurysm, familial thoracic 8; AAT8 Familial thoracic aortic aneurysm and aortic dissection | thoracic aortic aneurysm 1 0
Apert syndrome 1 0
Aromatase deficiency 1 0
Aromatase excess syndrome 1 0
Aromatic L-amino acid decarboxylase deficiency 1 0
Arterial hypertension 1 0
Arteriosclerosis 1 0
Aspergillosis 1 0
Aspirin exacerbated respiratory diseases 1 1
Asthma 6 77
Asthma-related traits, susceptibility to, 5 1 0
Asthma, susceptibility to 12 0
Asthma, susceptibility to, 1 1 0
Asthma, susceptibility to, 2 1 0
Ataxia-telangiectasia 1 0
Ataxia-telangiectasia variant 1 0
Atherosclerosis susceptibility 7 0
Athyreosis 1 0
Atopic dermatitis 2 15
Atrial Fibrillation 2 0
Atrial fibrillation, familial, 10; ATFB10 Familial atrial fibrillation 1 0
Atrial fibrillation, familial, 12; ATFB12 Familial atrial fibrillation 1 0
Atrial fibrillation, familial, 3; ATFB3 Familial atrial fibrillation 1 0
Atrial fibrillation, familial, 7; ATFB7 Familial atrial fibrillation 1 0
Atrial fibrillation, familial, 9; ATFB9 Familial atrial fibrillation 1 0
Atrial stand still Atrial cardiomyopathy with heart block 1 0
Atypical chronic myeloid leukemia 1 0
Atypical Rett syndrome 1 0
Autism Autism spectrum disorder 5 0
Autoimmune disease hypersensitivity reaction disease 1 0
Autoimmune lymphoproliferative syndrome; ALPS 1 1
Autoimmune lymphoproliferative syndrome, type IIA; ALPS2A Autoimmune lymphoproliferative syndrome 1 0
Autoimmune lymphoproliferative syndrome, type III; ALPS3 Autoimmune lymphoproliferative syndrome 1 0
Autoimmune lymphoproliferative syndrome, type V; ALPS5 Autoimmune lymphoproliferative syndrome | CTLA4 haploinsuffiency with autoimmune infiltration; CHAI 1 0
Autoimmune lymphoproliferative syndrome with recurrent viral infections Autoimmune lymphoproliferative syndrome | Autoimmune lymphoproliferative syndrome, type IIB; ALPS2B | Caspase 8 deficiency 1 0
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; APS1 Autoimmune polyendocrine syndrome type 1 1 0
Autoimmune thrombocytopenic purpura idiopathic thrombocytopenic purpura | Immune thrombocytopenia | Immune thrombocytopenic purpura | ITP | primary immune thrombocytopenia | primary thrombocytopenic purpura 0 5
Autoimmune thyroid disorders 1 0
Autoinflammation with infantile enterocolitis; AIFEC 1 0
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 1 0
Autosomal dominant hyperinsulinism due to SUR1 deficiency Hyperinsulinemic hypoglycemia | Hyperinsulinemic hypoglycemia, familial, 1; HHF1 1 0
Autosomal recessive centronuclear myopathy Centronuclear myopathy 1 0
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 1 0
Autosomal recessive hyperinsulinism due to SUR1 deficiency Hyperinsulinemic hypoglycemia | Hyperinsulinemic hypoglycemia, familial, 1; HHF1 1 0
Autosomal recessive systemic lupus erythematosus 1 0
Axial spondyloarthritis Axial SpA 0 1
Azoospermia 0 0
 
B Back to top
Bare lymphocyte syndrome, type II Immunodeficiency by defective expression of HLA class 2 1 0
Bartter syndrome, antenatal, type 1 Antenatal Bartter syndrome | Bartter disease 1 0
Bartter syndrome, antenatal, type 2 Antenatal Bartter syndrome | Bartter disease 1 0
Basal cell carcinoma 1 0
Basal ganglia calcification, idiopathic, 4; IBGC4 Basal ganglia calcification | Bilateral striopallidodentate calcinosis 1 0
B-cell chronic lymphocytic leukemia B-CLL | lymphoplasmacytic leukemia | small lymphocytic lymphoma 2 5
B-cell lymphoma 1 3
B-cell non-hodgkin lymphoma 1 1
Beare-Stevenson cutis gyrata syndrome Cutis gyrata - acanthosis nigricans - craniosynostosis 1 0
Beckwith-Wiedemann syndrome 1 0
Behavioral variant of frontotemporal dementia 1 0
Behcet syndrome Behçet disease | Behcet's disease 3 0
Benign Adult Familial Myoclonic Epilepsy 1 0
Benign essential blepharospasm Blepharospasm 1 0
Benign familial infantile epilepsy Benign familial infantile convulsions | Benign familial infantile seizures 2 0
Benign paroxysmal torticollis of infancy 1 0
Benign Samaritan congenital myopathy 1 0
Bent bone dysplasia syndrome FGFR2-related bent bone dysplasia 1 0
Bilateral frontoparietal polymicrogyria 1 0
Bilateral renal dysplasia 1 0
Birk-Barel mental retardation dysmorphism syndrome Birk-Barel syndrome | Intellectual disability, Birk-Barel type 1 0
Bladder cancer 3 0
Blau syndrome; BLAUS 1 0
Bleeding disorder, platelet-type, 8; BDPLT8 P2Y12 defect 1 0
Bleeding disorder, platelet-type, 13, susceptibility to Bleeding diathesis due to thromboxane synthesis deficiency 1 0
Body mass index quantitative trait locus 10; BMIQ10 1 0
Bone density defects 1 0
Bone mineral density, low, susceptibility to 1 0
Bone resorption 1 0
Bosch-Boonstra-Schaaf optic atrophy syndrome; BBSOAS Optic atrophy-intellectual disability syndrome 1 0
Brachydactyly-mental retardation syndrome; BDMR 2q37 microdeletion syndrome 1 0
Brachydactyly, type A2; BDA2 Brachydactyly 1 0
Brachydactyly, type B1; BDB1 Brachydactyly | Brachydactyly type B 1 0
Brachydactyly, type C; BDC Brachydactyly 1 0
Brachyolmia type 3 Autosomal dominant brachyolmia | Brachyolmia 1 0
Bradyopsia PERRS | prolonged electroretinal response suppression 1 0
Brain dopamine-serotonin vesicular transport disease 1 0
Branched-chain ketoacid dehydrogenase kinase deficiency Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 1 0
Breast cancer 18 0
Bronchial asthma 1 0
Bronchiectasis with or without elevated sweat chloride 1, BESC1 Bronchiectasis | Idiopathic bronchiectasis 2 0
Bronchiectasis with or without elevated sweat chloride 2; BESC2 Bronchiectasis | Idiopathic bronchiectasis 1 0
Bronchiectasis with or without elevated sweat chloride 3; BESC3 Bronchiectasis | Idiopathic bronchiectasis 1 0
Bronchospasm bronchial disease 0 1
Brugada syndrome 1 0
Brugada syndrome 1; BRGDA1 Brugada syndrome 2 0
Brugada syndrome 3; BRGDA3 Brugada syndrome 1 0
Brugada syndrome 8; BRGDA8 Brugada syndrome 1 0
Brugada syndrome 9; BRGDA9 Brugada syndrome 1 0
Brunner syndrome Monoamine oxidase A deficiency 1 0
Budd-Chiari syndrome 2 0
Bullous diffuse cutaneous mastocytosis 1 0
Bullous pemphigoid 1 0
Butyrylcholinesterase deficiency 1 0
 
C Back to top
Camptodactyly, tall stature, and hearing loss syndrome Camptodactyly - tall stature - scoliosis - hearing loss 1 0
Cancer 2 0
Candidemia Candidiasis 1 0
CANDLE syndrome Autoinflammation, lipodystrophy, and dermatosis syndrome | Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome 1 0
Cantu Syndrome Hypertrichotic osteochondrodysplasia, Cantu type 2 0
Carboxypeptidase N deficiency 1 0
Cardiac arrhythmia 2 0
Cardiac conduction disease with or without dilated cardiomyopathy; CCDD 1 0
Cardiac hypertrophy 1 0
Cardiofaciocutaneous syndrome 1; CFC1 Cardiofaciocutaneous syndrome 1 0
Cardiofaciocutaneous syndrome 2; CFC2 Cardiofaciocutaneous syndrome 1 0
Cardiofaciocutaneous syndrome 3; CFC3 Cardiofaciocutaneous syndrome 1 0
Cardiofaciocutaneous syndrome 4; CFC4 Cardiofaciocutaneous syndrome 1 0
Cardiomyopathy, dilated, 1E; CMD1E Dilated cardiomyopathy | Familial isolated dilated cardiomyopathy 1 0
Cardiomyopathy, dilated, 1G; CMD1G Dilated cardiomyopathy | Familial isolated dilated cardiomyopathy 1 0
Cardiomyopathy, dilated, 1O; CMD1O Dilated cardiomyopathy | Familial isolated dilated cardiomyopathy 1 0
Cardiomyopathy, dilated, 1U; CMD1U Dilated cardiomyopathy | Familial isolated dilated cardiomyopathy 1 0
Cardiomyopathy, dilated, 1V; CMD1V Dilated cardiomyopathy | Familial isolated dilated cardiomyopathy 1 0
Cardiomyopathy, familial hypertrophic, 1; CMH1 Familial hypertrophic cardiomyopathy | Familial isolated hypertrophic cardiomyopathy 1 0
Cardiomyopathy, familial hypertrophic 6; CMH6 Familial hypertrophic cardiomyopathy | Familial isolated hypertrophic cardiomyopathy 1 0
Cardiomyopathy, familial hypertrophic, 9; CMH9 Familial hypertrophic cardiomyopathy | Familial isolated hypertrophic cardiomyopathy 1 0
Cardiovascular disease 2 0
Carney complex, type 1; CNC1 Carney complex 1 0
Carotid intimal medial thickness 1 1 0
Cataract 26, multiple types; CTRCT26 1 0
Caudal agenesis type II 1 0
Celiac disease 3 1
Celiac disease, susceptibility to, 3; CELIAC3 Celiac disease | Gluten-sensitive enteropathy, susceptibility to, 3 1 0
Central areolar choroidal dystrophy 1 0
Central core disease of muscle Central core disease | Central core myopathy | Moderate multiminicore disease with hand involvement 1 0
Central hypoventilation syndrome, congenital; CCHS Haddad syndrome | Ondine-Hirschsprung disease 1 0
Cerebellar ataxia 1 0
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; ADCADN 1 0
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL Hereditary multi-infarct dementia 1 0
Cerebral malaria Malaria, susceptibility to 1 0
Cerebral sinovenous thrombosis 2 0
Cerebrovascular disease 1 0
Ceroid lipofuscinosis, neuronal, 10 Cathepsin D deficiency | CLN10 disease | Neuronal ceroid lipofuscinosis 1 0
Ceroid lipofuscinosis, neuronal, 13 CLN13 disease | Neuronal ceroid lipofuscinosis 1 0
Cervical cancer 4 0
Cervical dystonia Autosomal dominant cervical dystonia 1 0
Channelopathy-associated congenital insensitivity to pain 1 0
Charcot-Marie-Tooth disease, X-linked dominant, 6 X-linked Charcot-Marie-Tooth disease type 6 1 0
Chiari II malformation 1 0
Childhood absence epilepsy 1 0
Childhood acute lymphoblastic leukemia acute lymphocytic leukemia 1 0
Chondrodysplasia, acromesomelic, with genital anomalies 1 0
Chondrodysplasia, Blomstrand type; BOCD Blomstrand lethal chondrodysplasia 1 0
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 0
Chromosome 16p13.3 deletion syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 1 0
Chromosome 1p36 deletion syndrome 1 0
Chromosome 10q23 deletion syndrome Juvenile polyposis of infancy 1 0
Chromosome 15q13.3 deletion syndrome 15q13.3 microdeletion syndrome | Chromosome 15q13.3 microdeletion syndrome 1 0
Chromosome 22q11.2 deletion syndrome, distal Distal 22q11.2 microdeletion syndrome 1 0
Chromosome 15q11-q13 duplication syndrome 1 0
Chronic granulomatous disease Bridges-Good syndrome | CGD | Congenital dysphagocytosis | Quie syndrome 0 1
Chronic idiopathic urticaria 0 2
Chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia | Chronic lymphatic leukemia | Chronic lymphoid leukemia 4 11
Chronic myelogenous leukemia chronic granulocytic leukemia | CML | myeloid leukemia, chronic 0 1
Chronic myeloid leukemia 2 0
Chronic myelomonocytic leukemia