The IUPHAR/BPS Guide to PHARMACOLOGY complete disease list

All diseases described in GtoPdb.

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Disease name Synonyms Targets Ligands
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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
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 2
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 5 4
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 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 9
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 76
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 3
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
Azoospermia 0 0
 
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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 2
B-cell non-hodgkin lymphoma 1 0
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 1 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
 
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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 0
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 7
Chronic myelogenous leukemia chronic granulocytic leukemia | CML | myeloid leukemia, chronic 0 1
Chronic myeloid leukemia 2 0
Chronic myelomonocytic leukemia 1 0
Chronic neuropathic pain 1 0
Chronic neutrophilic leukemia 1 0
Chronic obstructive pulmonary disease 0 41
CINCA syndrome Chronic infantile neurological cutaneous articular syndrome 1 1
Classical phenylketonuria Phenylketonuria 1 0
Classic mast cell leukemia 1 0
Cocoon syndrome 1 0
Coenzyme Q10 deficiency, primary, 4 Autosomal recessive ataxia due to ubiquinone deficiency | Coenzyme Q10 deficiency disease 1 0
Coffin-Lowry syndrome 1 0
Coffin-Siris syndrome 1 0
Cognitive impairment with or without cerebellar ataxia 1 0
Cold agglutinin disease autoimmune hemolytic anemia | chronic cold agglutinin disease | cold agglutinin syndrome 0 1
Colitis 3 5
Colorectal cancer 18 0
Colorectal cancer, hereditary nonpolyposis, type 6; HNPCC6 Hereditary nonpolyposis colon cancer 1 0
Combined cervical dystonia 1 0
Combined immunodeficiency 1 0
Common variable immunodeficiency 3 0
Complement component C1r/C1s deficiency Immunodeficiency due to an early component of complement deficiency 1 0
Complement component C1s deficiency Immunodeficiency due to an early component of complement deficiency 1 0
Complement factor B deficiency; CFBD 1 0
Complement factor D deficiency; CFDD Factor D deficiency | Recurrent Neisseria infections due to factor D deficiency 1 0
Complete hydatidiform mole Hydatidiform mole, recurrent, 1; HYDM1 1 0
Cone-rod dystrophy 6; CORD6 Cone rod dystrophy 1 0
Cone-rod dystrophy 9; CORD9 Cone rod dystrophy 1 0
Cone-rod dystrophy, X-linked, 3; CORDX3 Cone rod dystrophy 1 0
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia 1 0
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia 1 0
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency Congenital adrenal hyperplasia 1 0
Congenital amegakaryocytic thrombocytopenia 1 0
Congenital anomalies of kidney and urinary tract, susceptibility to; CAKUT 1 0
Congenital bilateral absence of vas deferens 1 0
Congenital heart defects, multiple types, 4; CHTD4 Complete atrioventricular canal | Partial atrioventricular canal 1 0
Congenital hyperaldosteronism 1 0
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi CLOVE syndrome 1 0
Congenital mesoblastic nephroma 1 0
Congenital non-bullous ichthyosiform erythroderma 1 0
Congenital stationary night blindness 1 0
Congenital toxoplasmosis 1 0
Corneal dystrophy, Fleck CFD | corneal dystrophy, Francois-Neetens speckled ro flecked 1 0
Corneal dystrophy, gelatinous drop-like; GDLD Gelatinous drop-like corneal dystrophy 1 0
Corneal intraepithelial dyskeratosis and ectodermal dysplasia; CIDED Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 1 0
Cornelia de Lange syndrome 5 Cornelia de Lange syndrome 1 0
Coronary artery disease 1 0
Coronary heart disease, susceptibility to, 5 Coronary heart disease 1 0
Coronary heart disease, susceptibility to, 6 Coronary heart disease 1 0
Coronary restenosis 1 0
Cortical dysplasia, complex, with other brain malformations 1; CDCBM1 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 1 0
Cortical dysplasia, complex, with other brain malformations 6; CDCBM6 1 0
Cortisone reductase deficiency 2 Hyperandrogenism due to cortisone reductase deficiency 1 0
Costello syndrome; CSTLO 1 0
Cowden syndrome 5; CWS5 Cowden disease | Cowden syndrome 1 0
Cowden syndrome 6; CWS6 Cowden disease | Cowden syndrome 1 0
Craniopharyngioma 1 0
Craniorachischisis 1 0
Craniosynostosis and dental anomalies 1 0
Crimean-Congo hemorrhagic fever 1 0
Crohn's disease Crohn disease | Inflammatory bowel disease 1; IBD1 4 23
Crouzon syndrome Crouzon disease 1 0
Crouzon syndrome with acanthosis nigricans 1 0
Cryptorchidism 1 0
Cutaneous mastocytoma 1 0
Cutaneous T cell lymphoma CTCL | cutaneous T-cell lymphoma 0 1
Cutaneous telangiectasia and cancer syndrome, familial Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 1 0
Cyclic neutropenia Cyclic hematopoiesis 1 0
Cystic fibrosis 1 0
 
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Deafness, autosomal dominant 2A; DFNA2A Autosomal dominant nonsyndromic deafness | Autosomal dominant non-syndromic sensorineural deafness type DFNA 1 0
Deafness, autosomal dominant 41; DFNA41 Autosomal dominant nonsyndromic deafness | Autosomal dominant non-syndromic sensorineural deafness type DFNA 1 0
Deafness, autosomal recessive 30; DFNB30 Autosomal recessive nonsyndromic deafness | Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0
Deafness, autosomal recessive 35; DFNB35 Autosomal recessive nonsyndromic deafness | Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0
Deafness-infertility syndrome Deafness, sensineural, and male infertility 1 0
Dedifferentiated liposarcoma Liposarcoma 1 0
Deficiency of IL-36R antagonist DITRA 0 1
Deficiency of IL-1 receptor antagonist DIRA | Interleukin-1 receptor antagonist deficiency | OMPP | sterile multifocal osteomyelitis with periostitis and pustulosis 0 1
Dehydrated hereditary stomatocytosis 1 0
Dental ankylosis Tooth ankylosis 1 0
Dermatitis 1 14
Diabetes mellitus, insulin-dependent, 12; IDDM12 Insulin-dependent diabetes mellitus 12 | type 1 diabetes mellitus 1 0
Diabetes mellitus, insulin-dependent, 22; IDDM22 1 0
Diabetes mellitus, insulin-dependent; IDDM Type 1 diabetes mellitus 3 0
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, type A Insulin-resistance syndrome type A 1 0
Diabetes mellitus, noninsulin-dependent; NIDDM Diabetes mellitus, Type II; T2D | Maturity onset diabetes | Type 2 diabetes mellitus 15 0
Diabetes mellitus, permanent neonatal; PNDM DEND syndrome | Developmental delay-epilepsy-neonatal diabetes syndrome | Permanent neonatal diabetes mellitus 3 0
Diabetes mellitus, transient neonatal, 2 Transient neonatal diabetes mellitus 1 0
Diabetes mellitus, transient neonatal, 3 Transient neonatal diabetes mellitus 1 0
Diabetes mellitus, type 2 NIDDM | non-insulin-dependent diabetes mellitus | T2DM 0 1
Diamond-Blackfan anemia 1 0
Diarrhea 6; DIAR6 Chronic diarrhea due to guanylate cyclase 2C overactivity 1 0
Diarrhea 7; DIAR7 Congenital chronic diarrhea with protein-losing enteropathy 1 0
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Hyperinsulinemic hypoglycemia, familial, 1; HHF1 1 0
Diffuse cutaneous systemic sclerosis 1 1
DiGeorge syndrome 1 0
Digital arthropathy-brachydactyly; familial; FDAB Familial digital arthropathy-brachydactyly 1 0
Donohue syndrome Leprechaunism 1 0
Dravet syndrome Epileptic encephalopathy, early infantile, 6; EIEE6 | Severe myoclonic epilepsy of infancy; SMEI 4 0
Duchenne muscular dystrophy 0 2
Dystonia 9; DYT9 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity 1 0
Dystonia 3, torsion, X-linked; DYT3 X-linked dystonia-parkinsonism 1 0
 
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Early Onset Cerebellar Ataxia, Intellectual Disability and Epilepsy 1 0
Early repolarization syndrome 1 0
Eiken syndrome 1 0
Emesis 2 0
Enchondromatosis, multiple, Ollier type Dyschondroplasia | Enchondromatosis | Ollier disease | Osteochondromatosis 1 0
Endocrine-cerebroosteodysplasia Endocrine-cerebro-osteodysplasia syndrome 1 0
Endocrine tumors 1 0
Endometrial cancer 5 0
Endometriosis 1 0
Endotoxin hyporesponsiveness 1 0
Enhanced S-cone syndrome; ESCS Goldmann-Favre syndrome 1 0
Eosinophilic esophagitis 0 1
Epidermolysis bullosa dystrophica, autosomal recessive Epidermolysis bullosa dystrophica | Severe generalized recessive dystrophic epidermolysis bullosa 1 0
Epilepsy 5 0
Epilepsy and Autism 1 0
Epilepsy, childhood absence, susceptibility to, 2; ECA2 Childhood absence epilepsy 1 0
Epilepsy, childhood absence, susceptibility to, 5; ECA5 Childhood absence epilepsy 1 0
Epilepsy, childhood absence, susceptibility to, 6; ECA6 Childhood absence epilepsy 1 0
Epilepsy, focal, with speech disorder and with or without mental retardation; FESD Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 1 0
Epilepsy, idiopathic generalized, susceptibility to, 6; ECA6 Idiopathic generalized epilepsy 1 0
Epilepsy, idiopathic generalized, susceptibility to, 10; EIG10 Generalized epilepsy with febrile seizures-plus | Idiopathic generalized epilepsy 1 0
Epilepsy, idiopathic generalized, susceptibility to, 11; EIG11 Idiopathic generalized epilepsy 1 0
Epilepsy, idiopathic generalized, susceptibility to, 12; EIG12 Idiopathic generalized epilepsy 1 0
Epilepsy, idiopathic generalized, susceptibility to, 13; EIG13 Childhood absence epilepsy | Idiopathic generalized epilepsy | Juvenile myoclonic epilepsy 1 0
Epilepsy, idiopathic generalized, susceptibility to, 8; EIG8 Idiopathic generalized epilepsy 1 0
Epilepsy, juvenile myoclonic, susceptibility to, 7; EJM7 Juvenile myoclonic epilepsy 1 0
Epilepsy, juvenile myoclonic, susceptibility to, 8; EJM8 Juvenile myoclonic epilepsy 1 0
Epilepsy, nocturnal frontal lobe, 1; ENFL1 Autosomal dominant nocturnal frontal lobe epilepsy 1 0
Epilepsy, nocturnal frontal lobe, 3; ENFL3 Autosomal dominant nocturnal frontal lobe epilepsy 1 0
Epilepsy, nocturnal frontal lobe 4, ENFL4 Autosomal dominant nocturnal frontal lobe epilepsy 1 0
Epilepsy, nocturnal frontal lobe, 5; ENFL5 Autosomal dominant nocturnal frontal lobe epilepsy 1 0
Epilepsy, progressive myoclonic 7; EPM7 Progressive myoclonus epilepsy 1 0
Epileptic encephalopathy 1 0
Epileptic encephalopathy, early infantile, 11; EIEE11 Early infantile epileptic encephalopathy | Infantile epileptic encephalopathy 1 0
Epileptic encephalopathy, early infantile, 13; EIEE13 Early infantile epileptic encephalopathy | Infantile epileptic encephalopathy 1 0
Epileptic encephalopathy, early infantile, 14; EIEE14 Infantile epileptic encephalopathy | Malignant migrating partial seizures of infancy 1 0
Epileptic encephalopathy, early infantile, 24; EIEE24 Early infantile epileptic encephalopathy | Infantile epileptic encephalopathy 1 0
Epileptic encephalopathy, early infantile, 2; EIEE2 Early infantile epileptic encephalopathy | Infantile epileptic encephalopathy 1 0
Epileptic encephalopathy, early infantile, 7; EIEE7 Early infantile epileptic encephalopathy | Infantile epileptic encephalopathy 1 0
Epileptic encephalopathy with continuous spike-and-wave during sleep 1 0
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome 1 0
Episodic ataxia, type 1; EA1 Episodic ataxia | Hereditary continuous muscle fiber activity 1 0
Episodic ataxia, type 2; EA2 Episodic ataxia | Familial paroxysmal ataxia 1 0
Episodic pain syndrome, familial, 1; FEPS1 Familial episodic pain syndrome | Familial episodic pain syndrome with predominantly upper body involvement 1 0
Episodic pain syndrome, familial, 2; FEPS2 Sodium channelopathy-related small fiber neuropathy 1 0
Episodic pain syndrome, familial, 3; FEPS3 Familial episodic pain syndrome | Familial episodic pain syndrome with predominantly lower limb involvement 1 0
Erythermalgia Primary erythermalgia | Sodium channelopathy-related small fiber neuropathy 1 0
Erythrocytosis, familial, 1; ECYT1 Primary familial polycythemia 1 0
Erythrocytosis, familial, 3; ECYT3 Autosomal dominant secondary polycythemia 1 0
Esophageal cancer 4 0
Estrogen resistance; ESTRR Estrogen resistance syndrome 1 0
Extraskeletal myxoid chondrosarcoma 1 0
Exudative vitreoretinopathy 1; EVR1 Exudative vitreoretinopathy | Familial exudative vitreoretinopathy 1 0
 
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Factor V deficiency 1 0
Factor VII deficiency 2 0
Factor VIII deficiency 1 0
Factor X deficiency 1 0
Factor XI deficiency 1 0
Factor XII deficiency 1 0
Failure of tooth eruption, primary; PFE 1 0
Familial amyloid cardiomyopathy Transthyretin amyloid cardiopathy | Transthyretin amyloidosis | Transthyretin-related familial amyloid cardiomyopathy | TTR-related cardiac amyloidosis 1 0
Familial cerebral saccular aneurysm 1 0
Familial cold autoinflammatory syndrome 1; FCAS1 Familial cold urticaria 1 3
Familial cold autoinflammatory syndrome 2; FCAS2 NLRP12-associated hereditary periodic fever syndrome 1 0
Familial cold autoinflammatory syndrome 4; FCAS4 1 0
Familial combined hyperlipidemia 1 0
Familial gestational hyperthyroidism 1 0
Familial hyperaldosteronism type I Glucocorticoid-remediable aldosteronism; GRA 1 0
Familial hyperaldosteronism type III 1 0
Familial hypocalciuric hypercalcemia type 1 1 0
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 1 0
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 1 0
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 1 0
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 1 0
Familial isolated hypoparathyroidism due to impaired PTH secretion 1 0
Familial pancreatic carcinoma Pancreatic cancer | Pancreatic carcinoma 1 0
Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy | Lipodystrophy, familial partial, type 3; FPLD3 1 0
Familial partial lipodystrophy due to AKT2 mutations Familial partial lipodystrophy 1 0
Familial prostate cancer Prostate cancer 2 0
Familial thrombocytosis essential thrombocythaemia | hemorrhagic thrombocythemia | hereditary thrombocythemia | primary thrombocytosis 2 0
Fatty liver disease, nonalcoholic, susceptibility to, 1; NAFLD1 2 0
Febrile and afebrile seizures 1 0
Febrile Convulsions, Familial 8, FEB8 Generalized epilepsy with febrile seizures-plus 1 0
Febrile seizures, familial, 1; FEB1 1 0
Febrile seizures, familial, 4; FEB4 1 0
Fertile eunuch syndrome 1 0
FG syndrome 4 FG syndrome | Keller syndrome 1 0
Fibrodysplasia ossificans progressiva 1 0
Fibrosarcoma 1 0
Fibrosis 1 0
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; CFEOM3A Congenital fibrosis of extraocular muscles 1 0
Focal segmental glomerulosclerosis 2; FSGS2 Focal segmental glomerulosclerosis 1 0
Follicular lymphoma 0 1
Frontotemporal dementia 1 0
Functional dyspepsia Dyspepsia 1 0
 
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GABA-transaminase deficiency GABA aminotransferase deficiency | Gamma-aminobutyric acid transaminase deficiency 1 0
Galactosialidosis 1 0
Gastric cancer Stomach cancer 8 0
Gastric cancer, hereditary diffuse; HDGC 1 0
Gastritis 1 0
Gastrointestinal neuroendocrine tumor 1 0
Gastrointestinal stromal tumor 2 0
Generalized epilepsy and paroxysmal dyskinesia 1 0
Generalized epilepsy with febrile seizures-plus 1 0
Generalized epilepsy with febrile seizures plus, type 1; GEFSP1 Generalized epilepsy with febrile seizures-plus 1 0
Generalized epilepsy with febrile seizures plus, type 2; GEFSP2 Generalized epilepsy with febrile seizures-plus 1 0
Generalized epilepsy with febrile seizures plus; type 3; GEFSP3 Generalized epilepsy with febrile seizures-plus 1 0
Generalized epilepsy with febrile seizures plus, type 7; GEFSP7 Generalized epilepsy with febrile seizures-plus 1 0
Generalized juvenile polyposis/juvenile polyposis coli Juvenile polypolis syndrome; JPS 1 0
Generalized resistance to thyroid hormone Thyroid hormone resistance, generalized, autosomal dominant; GRTH | Thyroid hormone resistance, generalized, autosomal recessive; GRTH | Thyroid hormone resistance syndrome 1 0
Giant cell glioblastoma Glioma susceptibility 1; GLM1 4 0
Gitelman syndrome 1 0
Glioblastoma Glioblastoma multiforme | Glioma susceptibility 1; GLM1 2 0
Gliosarcoma 4 0
Glucocorticoid deficiency 1; GCCD1 Familial glucocorticoid deficiency 1 0
Glucocorticoid resistance, generalized; GCCR 1 0
Glucocorticoid sensitivity 1 0
Glucose/galactose malabsorption; GGM Glucose-galactose malabsorption 1 0
GLUT1 deficiency syndrome 1; GLUT1DS1 Encephalopathy due to GLUT1 deficiency 1 0
GLUT1 deficiency syndrome 2; GLUT1DS2 Paroxysmal exertion-induced dyskinesia 1 0
Glycogen storage disease due to muscle phosphorylase kinase deficiency Glycogen storage disease IX 1 0
Glycogen storage disease II; GSD2 Glycogen storage disease due to acid maltase deficiency | Glycogen storage disease due to acid maltase deficiency, adult onset | Glycogen storage disease due to acid maltase deficiency, infantile onset | Glycogen storage disease due to acid maltase deficiency, juvenile onset | Pompe disease 1 0
Glycogen storage disease IXc Glycogen storage disease due to liver phosphorylase kinase deficiency | Glycogen storage disease IX 1 0
Glycogen storage disease of heart, lethal congenital 1 0
Gout 1 3
Graft versus host disease graft-versus-host disease | GvHD 2 11
Gram negative infection 1 0
Graves' disease 1 2
Griscelli syndrome, type 2 1 0
Growth hormone deficiency, isolated partial; GHDP Short stature due to GHSR deficiency 1 0
Growth hormone insensitivity, partial; GHIP Short stature due to partial GHR deficiency 1 0
 
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Haim-Munk syndrome 1 0
Hairy cell leukemia 1 0
Hajdu-Cheney syndrome; HJCYS Acroosteolysis dominant type 1 0
Hartsfield syndrome 1 0
Hashimoto-Pritzker syndrome 1 0
Hashimoto thyroiditis Autoimmune thyroiditis | Hashimoto struma 1 0
Hawkinsinuria 1 0
Heart failure 1 0
Hemangioma, capillary infantile Familial capillary hemangioma 2 0
Hematological malignancies 1 0
Hemimegalencephaly 2 0
Hemolytic anemia due to glutathione reductase deficiency 1 0
Hemolytic uremic syndrome, atypical, susceptibility to, 4 Atypical hemolytic-uremic syndrome with B factor anomaly | Hemolytic-uremic syndrome 1 0
Hemophagocytic lymphohistiocytosis Hemophagocytic syndrome 1 0
Hepatitis C infection 1 0
Hepatocellular carcinoma 4 0
Hereditary angioedema HAE 0 2
Hereditary breast and ovarian cancer syndrome Hereditary breast ovarian cancer 1 0
Hereditary hemorrhagic telangiectasia type 1 (HHT1) hemorrhagic telangiectasia type 1 | Osler hemorrhagic telangiectasia syndrome | Osler-Rendu-Weber disease 1 0
Hereditary motor and sensory neuropathy, type IIC, HMSN2C Autosomal dominant Charcot-Marie-Tooth disease type 2C | Charcot-Marie-Tooth disease type 2 1 0
Hereditary myopathy with early respiratory failure Hereditary proximal myopathy with early respiratory failure 1 0
Hereditary nonpolyposis colon cancer 2 0
Hereditary pancreatitis Hereditary chronic pancreatitis 4 0
Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy 1 0
Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy 1 0
Heritable pulmonary arterial hypertension 2 0
Herpes simplex encephalitis, susceptibility to, 2 Herpes simplex virus encephalitis | Herpetic encephalitis 1 0
Herpetic encephalitis Herpes simplex encephalitis | Herpes simplex virus encephalitis | HSV encephalitis 1 0
Heterotaxy, visceral, 4, autosomal; HTX4 Situs ambiguus | Visceral heterotaxy 1 0
Hirschsprung disease 2 0
Hirschsprung disease, cardiac defects, and autonomic dysfunction 1 0
Hirschsprung disease, susceptibility to, 1; HSCR1 Hirschsprung disease 1 0
Hirschsprung disease, susceptibility to, 2; HSCR2 Hirschsprung disease 1 0
Honey-droplet corneal dystrophy 1 0
Human immunodeficiency virus type 1, susceptibility to Human immunodeficiency virus infectious disease 8 0
Huntington disease Huntington's disease 2 0
Hydrocephalus 1 0
Hydromyelia 1 0
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency 1 0
Hyperalgesia 1 0
Hyperchlorhidrosis, isolated 1 0
Hypercholesterolemia 1 0
Hypercholesterolemia; autosomal dominant, 3 Familial hypercholesterolemia 1 0
Hypercholesterolemia, familial 1 0
Hyperekplexia, hereditary 1; HKPX1 Hereditary hyperekplexia 1 0
Hyperekplexia 2; HKPX2 Hereditary hyperekplexia 1 0
Hypereosinophilic syndrome, idiopathic; HES Hypereosinophilic syndrome of undetermined significance 1 1
Hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator 1 0
Hyper-IgD syndrome Hyperimmunoglobulinemia D with periodic fever 1 0
Hyperinsulinemic hypoglycemia, familial, 2; HHF2 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Hyperinsulinemic hypoglycemia | Persistent hyperinsulinemic hypoglycemia of infancy 1 0
Hyperinsulinemic hypoglycemia, familial, 3; HHF3 Hyperinsulinemic hypoglycemia | Hyperinsulinism due to glucokinase deficiency 1 0
Hyperinsulinemic hypoglycemia, familial, 5; HHF5 Hyperinsulinemic hypoglycemia | Hyperinsulinism due to INSR deficiency 1 0
Hyperinsulinism due to HNF4A deficiency Hyperinsulinism 1 0
Hyperkalemic Periodic Paralysis; HYPP 1 0
Hypertension, essential 3 0
Hyperuricemic nephropathy, familial juvenile 2; HNFJ2 Familial juvenile hyperuricemic nephropathy | Hyperuricemia - anemia - renal failure 1 0
Hypocalcemia, autosomal dominant, with Bartter syndrome Autosomal dominant hypocalcemia | Bartter syndrome with hypocalcemia 1 0
Hypochondroplasia 1 0
Hypoglycemia, Leucine-Induced; LIH 1 0
Hypogonadotropic hypogonadism 11 with or without anosmia; HH11 Kallmann syndrome | Normosmic congenital hypogonadotropic hypogonadism 1 0
Hypogonadotropic hypogonadism 2 with or without anosmia; HH2 Kallmann syndrome | Normosmic congenital hypogonadotropic hypogonadism 1 0
Hypogonadotropic hypogonadism 3 with or without anosmia; HH3 Kallmann syndrome 1 0
Hypogonadotropic hypogonadism 7 with or without anosmia; HH7 Idiopathic hypogonadotropic hypogonadism | Isolated hypogonadotropic hypogonadism 1 0
Hypogonadotropic hypogonadism 8 with or without anosmia; HH8 Kallmann syndrome | Normosmic congenital hypogonadotropic hypogonadism 1 0
Hypoinsulinemic hypoglycemia with hemihypertrophy 1 0
Hypokalemic periodic paralysis, type 1; HOKPP1 Hypokalemic periodic paralysis 1 0
Hypokalemic periodic paralysis, type 2; HOKPP2 Hypokalemic periodic paralysis 1 0
Hypomagnesemia 2, renal; HOMG2 Autosomal dominant primary hypomagnesemia with hypocalciuria 1 0
Hyponatremia 1 0
Hypopituitarism with pituitary stalk interruption 1 0
Hypoplasminogenemia Plasminogen deficiency type 1 1 0
Hypospadias 1, X-linked; HYSP1 Familial hypospadia 1 0
Hypothalamic amenorrhea 1 0
Hypothyroidism, congenital, nongoitrous, 1; CHNG1 Congenital hypothyroidism | Hypothyroidism due to TSH receptor mutations 1 0
Hypothyroidism, congenital, nongoitrous, 3; CHNG3 Congenital hypothyroidism | Peripheral resistance to thyroid hormones 1 0
Hypothyroidism, congenital, nongoitrous, 6; CHNG6 Congenital hypothyroidism | Peripheral resistance to thyroid hormones 1 0
Hypotrichosis 8; HYPT8 Hypotrichosis | Hypotrichosis simplex | Woolly hair 1 0
 
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Ichthyosis, congenital, autosomal recessive 4A; ARCI4A Lamellar ichthyosis 1 0
Ichthyosis, congenital, autosomal recessive 11; ARCI11 Ichthyosis-hypotrichosis syndrome 1 0
Ichthyosis, congenital, autosomal recessive 4B; ARCI4B Harlequin ichthyosis 1 0
Idiopathic hypogonadotropic hypogonadism 1 0
Idiopathic pulmonary fibrosis 1 5
Idiopathic ventricular fibrillation 1 0
IgE responsiveness, atopic; IGER 2 0
Immunodeficiency, common variable, 3; CVID3 Common variable immunodeficiency 1 0
Immunodeficiency 15; IMD15 Severe combined immunodeficiency due to IKK2 deficiency 1 0
Immunodeficiency 18; IMD18 CD3epsilon deficiency | Immunodeficiency 18, SCID variant | Immunodeficiency 18, Severe combined immunodeficiency variant | Severe combined immunodeficiency | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 1 0
Immunodeficiency 35; IMD35 Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency | Tyrosine kinase 2 deficiency 1 0
Immunodeficiency 26 with or without neurologic abnormalities; IMD26 Severe combined immunodeficiency due to DNA-PKcs deficiency 1 0
Immunoglobulin A vasculitis Henoch-Schönlein Purpura 1 0
Increased analgesia from kappa-opioid receptor agonist, female-specific 1 0
Indifference to pain, congenital, autosomal recessive; CIP Channelopathy-associated congenital insensitivity to pain 1 0
Infantile nephronophthisis 1 0
Inflammation 1 0
Inflammatory bowel disease 1; IBD1 Inflammatory bowel disease 1 8
Inflammatory myofibroblastic tumor 1 0
Inflammatory skin and bowel disease, neonatal, 1; NISBD1 Neonatal inflammatory skin and bowel disease 1 0
Inflammatory skin and bowel disease, neonatal, 2; NISBD2 Neonatal inflammatory skin and bowel disease 1 0
Inherited isolated adrenal insufficiency due to CYP11A1 deficiency 1 0
Injury aggravation in neurotrauma 1 0
Insensitivity to pain, congenital, with anhidrosis; CIPA Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathy type 4 1 0
Insomnia 1 0
Insulin-like growth factor I, resistance to Growth delay due to insulin-like growth factor I resistance 1 0
Insulinoma 1 0
Intermittent hypoxia-induced atherogenesis 1 0
Interstitial cystitis 2 1
Intervertebral disc disease; IDD 1 0
Intrahepatic cholestasis of pregnancy 1 0
Invasive pneumococcal disease, recurrent isolated, 1; IPD1 1 0
IRAK4 deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency 1 0
Iron-refractory iron deficiency anemia; IRIDA IRIDA syndrome 1 0
Irritable bowel syndrome 4 0
Ischemia 1 0
Ischemia-reperfusion injury 1 0
Isolated autosomal dominant hypomagnesemia, Glaudemans type 1 0
Isolated bone marrow mastocytosis 1 0
Isolated brachycephaly 1 0
Isolated cloverleaf skull syndrome 1 0
Isolated growth hormone deficiency type IB 1 0
Isolated growth hormone deficiency, Type III Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 1 0
Isolated plagiocephaly 1 0
 
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Jackson-Weiss syndrome Craniosynostosis - midfacial hypoplasia - foot abnormalities 2 0
Jervell and Lange-Nielsen syndrome 1; JLNS1 Jervell and Lange-Nielsen syndrome | Jervell-Lange Nielsen syndrome 1 0
JMP syndrome Autoinflammation, lipodystrophy, and dermatosis syndrome | Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome 1 0
Juvenile idiopathic arthritis JIA 0 3
Juvenile idiopathic arthritis- polyarticular 0 0
Juvenile idiopathic arthritis- systemic systemic juvenile rheumatoid arthritis 0 5
Juvenile myelomonocytic leukemia; JMML 2 0
Juvenile myoclonic epilepsy 1 0
Juvenile rheumatoid factor-negative polyarthritis 1 0
 
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Kawasaki disease infantile polyarteritis | mucocutaneous lymph node syndrome 1 0
keratoconjunctivitis sicca dry eye disease | KCS | keratitis sicca 0 2
Keratosis, seborrheic Seborrheic keratosis 2 0
King-Denborough syndrome 1 0
Kleefstra syndrome 1 0
Klinefelter syndrome Klinefelter's syndrome 1 0
 
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Lacrimoauriculodentodigital syndrome LADD syndrome 2 0
Landau-Kleffner syndrome 1 0
Large congenital melanocytic nevus Congenital melanocytic nevus 1 0
Laron syndrome 1 0
Lateral meningocele syndrome; LMNS 1 0
Leber congenital amaurosis 11; LCA11 Amaurosis congenita of Leber | Leber congenital amaurosis 1 0
Leber congenital amaurosis 16; LCA16 Amaurosis congenita of Leber | Leber congenital amaurosis 1 0
Leber congenital amaurosis 1; LCA1 Amaurosis congenita of Leber | Leber congenital amaurosis 1 0
Legionnaire disease, susceptibility to Legionnaires' disease 1 0
Lennox-Gastaut syndrome 2 0
LEOPARD syndrome 2; LPRD2 LEOPARD syndrome 1 0
LEOPARD syndrome 3; LPRD3 LEOPARD syndrome 1 0
Leprosy, susceptibility to, 3; LPRS3 1 0
Leprosy, susceptibility to, 5; LPRS5 Leprosy 1 0
Lethal congenital contractural syndrome 2; LCCS2 1 0
Lethal congenital contractural syndrome 3; LCCS3 1 0
leukocyte adhesion deficiency type 1 1 0
Leukoencephalopathy, diffuse hereditary, with spheroids Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia 1 0
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 1 0
Leydig cell hypoplasia due to complete LH resistance 1 0
Leydig cell hypoplasia due to partial LH resistance 1 0
Leydig cell hypoplasia, type 1 1 0
Liddle syndrome; LIDLS 2 0
Li-Fraumeni syndrome 1 0
Ligneous conjunctivitis 1 0
Limited cutaneous systemic sclerosis 1 0
Lipodystrophy, familial partial, type 6; FPLD6 Familial partial lipodystrophy 1 0
Lipoma 1 0
Lipomyelocele 1 0
Lipomyelomeningocele 1 0
Lissencephaly 3 Lissencephaly due to TUBA1A mutation 1 0
Localized scleroderma circumscribed scleroderma | localised morphea | morphea 0 1
Loeys-Dietz syndrome 1; LDS1 Loeys-Dietz syndrome 1 0
Loeys-Dietz syndrome 2; LDS2 Aortic aneurysm, familial thoratic 3; AAT3 | Familial thoracic aortic aneurysm and aortic dissection | Loeys-Dietz syndrome | Marfan syndrome type 2 1 0
Lone Atrial Fibrillation 1 0
Long QT syndrome 0 0
Long QT syndrome 13; LQT13 Long QT syndrome | Romano-Ward syndrome 1 0
Long QT syndrome 1; LQT1 Long QT syndrome | Romano-Ward syndrome 1 0
Long QT syndrome 2; LQT2 Long QT syndrome | Romano-Ward syndrome 1 0
Long QT syndrome 3; LQT3 Long QT syndrome | Romano-Ward syndrome 1 0
Lung cancer 13 0
Lupus erythematosus 1 2
Lupus nephritis 1 0
Lyme disease 1 0
Lymphedema, hereditary IA Hereditary lymphedema | Milroy disease 1 0
Lymphoadenopathic mastocytosis with eosinophilia 1 0
Lymphoma, Hodgin, Classic; CHL Hodgkin's lymphoma 1 2
Lymphoma, non-hodgkin, familial Non-Hodgkin lymphoma 4 2
Lymphoproliferative syndrome 1 Autosomal recessive lymphoproliferative disease | Lymphoproliferative disease 1 0
Lymphoproliferative syndrome, X-linked, 2; XLP2 Duncan disease | Duncan's syndrome | Lymphoproliferative disease | X-linked lymphoproliferative disease 1 0
 
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Macrodactyly of fingers, unilateral 1 0
Macular degeneration, age-related, 10; ARMD10 Age related macular degeneration 1 0
Macular degeneration, age-related, 12; ARMD12 Age-related macular degeneration 1 0
Macular degeneration, age-related, 14; ARMD14 Age-related macular degeneration 1 0
Macular degeneration, age-related, 1; ARMD1 Age-related macular degeneration 1 0
Maffucci syndrome 0 0
Major affective disorder 1; MAFD1 Bipolar affective disorder | Manic depressive-psychosis 5 0
Major affective disorder 2; MAFD2 Bipolar affective disorder 1 0
Major depressive disorder; MDD 4 1
Male infertility with normal virilization due to meiosis defect 1 0
Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia 1 0
Malignant hyperthermia, susceptibility to, 1; MHS1 Malignant hyperthermia 1 0
Malignant mesothelioma 1 0
Malignant migrating partial seizures of infancy 1 0
Mantle cell lymphoma 3 2
Mast cell disease Maculopapular cutaneous mastocytosis | Typical urticaria pigmentosa | Urticaria pigmentosa 1 0
Mastocytosis 0 4
Maternal hyperphenylalaninemia 1 0
Maturity-onset diabetes of the young; MODY 2 0
Maturity-onset diabetes of the young, type 11; MODY11 Maturity-onset diabetes of the young | MODY 1 0
Maturity-onset diabetes of the young, type 1; MODY1 Maturity-onset diabetes of the young | MODY 1 0
Maturity-onset diabetes of the young, type 2; MODY2 Maturity-onset diabetes of the young | MODY 1 0
Meconium ileus Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 1 0
Medulloblastoma 2 0
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 0
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; MPPH1 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 1 0
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; MPPH2 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 1 0
Megaloblastic anemia due to dihydrofolate reductase deficiency Constitutional megaloblastic anemia with severe neurologic disease 1 0
Melanocytic nevus syndrome, congenital; CMNS Congenital melanocytic nevus | Large congenital melanocytic nevus 1 0
Melanoma 1 0
Melanoma, cutaneous malignant, susceptibility to, 1; CMM1 1 0
Melanoma, cutaneous malignant, susceptibility to, 3; CMM3 Familial melanoma 1 0
Melanoma, cutaneous malignant, susceptibility to, 5; CMM5 Familial melanoma 1 0
Melanoma, cutaneous malignant, susceptibility to, 8; CMM8 1 0
Melanosis, neurocutaneous; NCMS 1 0
Melioidosis, susceptibility to 1 0
Membranous nephropathy, susceptibility to; MBNP 1 0
Mental retardation and microcephaly with pontine and cerebellar hypoplasia X-linked intellectual disability, Najm type 1 0
Mental retardation, autosomal dominant 16; MRD16 Autosomal dominant non-syndromic intellectual disability 1 0
Mental retardation, autosomal dominant 30; MRD30 1 0
Mental retardation, autosomal dominant 6; MRD6 Autosomal dominant non-syndromic intellectual disability 1 0
Mental retardation, autosomal dominant 7; MRD7 Autosomal dominant non-syndromic intellectual disability 1 0
Mental retardation, autosomal dominant 8; MRD8 Autosomal dominant non-syndromic intellectual disability 1 0
Mental retardation, autosomal recessive, 6; MRT6 Autosomal recessive non-syndromic intellectual disability 1 0
Mental retardation, hearing impairment, cranial malformations, hyperactivity 1 0
Mental retardation, language delay, hyperactivity, aggression, hearing impairment, cranial malformation, seizures 1 0
Mental retardation syndrome, X-linked, Siderius type X-linked intellectual disability, Siderius type 1 0
Mental retardation, X-linked 19; MRX19 Non-specific X-linked mental retardation | X-linked non-syndromic intellectual disability 1 0
Mental retardation, X-linked 30; MRX30 Non-specific X-linked mental retardation | X-linked non-syndromic intellectual disability 1 0
Mental retardation, X-linked 88; MRX88 Non-specific X-linked mental retardation | X-linked non-syndromic intellectual disability 1 0
Mental retardation, X-linked, syndromic, Claes-Jensen type Syndromic X-linked intellectual disability due to JARID1C mutation 0 0
Mental retardation, X-linked, syndromic, Wu type; MRXSW X-linked intellectual disability due to GRIA3 anomalies 1 0
Metabolic syndrome Metabolic syndrome X 2 0
Metaphyseal anadysplasia 2; MANDP2 Metaphyseal anadysplasia 1 0
Metaphyseal chondrodysplasia, Jansen type Jansen's metaphyseal chondrodysplasia 1 0
Metastatic melanoma 1 0
Metatropic dysplasia 1 0
Mevalonic aciduria 1 0
Microcephaly and chorioretinopathy, autosomal recessive, 2; MCCRP2 1 0
Microcephaly 12, primary, autosomal recessive; MCPH12 Autosomal recessive primary microcephaly 1 0
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; MCLMR Microcephaly - lymphedema - chorioretinopathy 1 0
Microphthalmia, syndromic 12; MCOPS12 Matthew-Wood syndrome 1 0
Microvascular complications of diabetes, susceptibility to, 1; MVCD1 0 0
Microvascular complications of diabetes, susceptibility to, 3; MVCD3 1 0
Migraine, familial hemiplegic, 1; FHM1 Familial hemiplegic migraine | Familial or sporadic hemiplegic migraine 1 0
Migraine, familial hemiplegic, 3; FHM3 Familial hemiplegic migraine | Familial or sporadic hemiplegic migraine 1 0
Migraine, with or without aura, susceptibility to, 13 1 0
Mild hemophilia A Hemophilia A; HEMA 1 0
Mild hemophilia B Hemophilia B; HEMB 1 0
Mild hyperphenylalaninemia 1 0
Mild phenylketonuria Phenylketonuria 1 0
Minicore myopathy with external ophthalmoplegia Congenital multicore myopathy with external ophthalmoplegia 1 0
Minimally differentiated acute myeloblastic leukemia 1 0
Minimal pigment oculocutaneous albinism type 1 1 0
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 1 0
Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related 1 0
Moderately severe hemophilia A Hemophilia A; HEMA 1 0
Moderately severe hemophilia B Hemophilia B; HEMB 1 0
Mosaic variegated aneuploidy syndrome 1 0
Mosaic variegated aneuploidy syndrome 1; MVA1 Mosaic variegated aneuploidy syndrome 1 0
Muckle-Wells syndrome CAPS2 | cryopyrin-associated periodic syndrome 2 | MWS | urticaria-deafness-amyloidosis syndrome 1 3
Mucolipidosis IV 1 0
Mucopolysaccharidosis type IVA 1 0
Muenke syndrome 1 0
Multicentric Castleman disease Multicentric giant lymph node hyperplasia 0 1
Multicentric osteolysis, nodulosis, and arthropathy Nodulosis-arthropathy-osteolysis syndrome 2 0
Multiple endocrine neoplasia IIA Multiple endocrine neoplasia 1 0
Multiple endocrine neoplasia IIB Multiple endocrine neoplasia 1 0
Multiple myeloma plasma cell myeloma 0 5
Multiple pterygium syndrome, escobar variant; EVMPS Autosomal recessive multiple pterygium syndrome | Autosomal recessive non-lethal multiple pterygium | Escobar syndrome 1 0
Multiple pterygium syndrome, lethal type; LMPS Lethal multiple pterygium syndrome 3 0
Multiple Sclerosis 8 5
Multiple self-healing squamous epithelioma, susceptibility to; MSSE Multiple keratoacanthoma, Ferguson-Smith type 1 0
Muscular dystrophy, limb-girdle, type 2 1 0
Myasthenia gravis 1 3
Myasthenic syndrome, congenital, 1A, slow-channel; CMS1A Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 2A, slow-channel; CMS2A Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 3A, slow-channel; CMS3A Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 4A, slow-channel; CMS4A Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9 Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 1B, fast-channel; CMS1B Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 3B, fast-channel; CMS3B Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 4B, fast-channel; CMS4B Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; CMS2C Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 16; CMS16 Congenital myasthenic syndrome | Myasthenic syndrome, congenital, acetazolamide-responsive | Postsynaptic congenital myasthenic syndromes 1 0
Myasthenic syndrome, congenital, 6, presynaptic; CMS6 Congenital myasthenic syndrome | Presynaptic congenital myasthenic syndromes 1 0
Mycobacterium tuberculosis, susceptibility to 3 0
Mycosis fungoides Alibert-Bazin syndrome | granuloma fungoides 0 1
Myelodysplastic syndrome 0 2
Myelofibrosis Myelofibrosis with myeloid metaplasia 3 2
Myeloid neoplasm associated with FGFR1 rearrangement 1 0
Myeloid neoplasm associated with PDGFRA rearrangement 1 0
Myeloid neoplasm associated with PDGFRB rearrangement 1 0
Myeloma, multiple 1 0
Myelomeningocele 1 0
Myeloperoxidase deficiency; MPOD 1 0
Myeloproliferative disorder, chronic, with eosinophilia Unclassified chronic myeloproliferative disease 1 0
Myoclonic-astastic epilepsy 1 0
Myoclonic dystonia 1 0
Myofibromatosis, infantile, 1; IMF1 Infantile myofibromatosis 1 0
Myofibromatosis, infantile, 2; IMF2 Infantile myofibromatosis 1 0
Myopathy, centronuclear, 1; CNM1 Autosomal dominant centronuclear myopathy | Centronuclear myopathy 1 0
Myopathy, centronuclear, 5; CNM5 Autosomal recessive centronuclear myopathy | Centronuclear myopathy 1 0
Myopathy, early-onset, with fatal cardiomyopathy Early-onset myopathy with fatal cardiomyopathy 1 0
Myositis 0 1
Myotonia, Potassium-Aggravated Acetazolamide-responsive myotonia | Myotonia fluctuans | Myotonia permanens 1 0
Myotonic dystrophy 1 Steinert myotonic dystrophy 1 0
Myxoma, intracardiac 1 0
 
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Nail disorder, nonsyndromic congenital, 10; NDNC10 Autosomal-recessive nail dysplasia 1 0
Nakajo-Nishimura syndrome Amyotrophy - fat tissue anomaly | Autoinflammation, lipodystrophy, and dermatosis syndrome | Secondary hypertrophic osteoperiostosis with pernio 1 0
Narcolepsy-cataplexy Cataplexy and narcolepsy 2 0
Nasopharyngeal carcinoma 1 0
Neonatal severe primary hyperparathyroidism 1 0
Nephrogenic diabetes insipidus 1 0
Nephrogenic syndrome of inappropriate antidiuresis Inappropriate antidiuretic hormone secretion syndrome 1 0
Nephronophthisis 2; NPHP2 Nephronophthisis 1 0
Nephronophthisis 9; NPHP9 Nephronophthisis 1 0
Nephrotic syndrome, type 9; NPHS9 1 0
Neuroblastoma 1 0
Neuroblastoma, susceptibility to, 3; NBLST3 Neuroblastoma 1 0
Neurodegeneration with optic atrophy, childhood onset Early-onset progressive neurodegeneration - blindness - ataxia - spasticity 1 0
Neuropathic pain 1 0
Neuropathy, hereditary sensory and autonomic, type IA; HSAN1A