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The IUPHAR Guide to IMMUNOPHARMACOLOGY disease list

GtoPdb Disease List

The Guide to PHARMACOLOGY disease list provides a directory of diseases described in the database. Currently two lists are available:

  • All Diseases - all disease with curated information in GtoPdb
  • Immuno Diseases - disease of immunological relevance. These are disease that are relevant to immunology or are associated to targets and/or ligands of immunological relevance.

Click on a disease name to view its summary page

The total number of targets and ligands associated with each disease is shown in the lat two columns

More information can be found in the help pages.

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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 3
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
Arrhythmogenic cardiomyopathy 0 1
Arterial hypertension 1 0
Arteriosclerosis 1 0
Arthrogryposis multiplex congenita lethal congenital contracture syndrome-9 1 0
Aspergillosis 1 0
Aspirin exacerbated respiratory diseases 1 1
Asthma 7 78
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 17
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 4 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
CHAPLE disorder; CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE) 0 1
Charcot-Marie-Tooth disease type 2A CMT2A2B 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 1 0
Chronic neuropathic pain 1 0
Chronic neutrophilic leukemia 1 0
Chronic obstructive pulmonary disease 0 42
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 bilateral aplasia of the vas deferens 1 0
Congenital heart defects, multiple types, 4; CHTD4 Complete atrioventricular canal | Partial atrioventricular canal 1 0
Congenital hyperaldosteronism 0 0
Congenital hyperinsulinemic hypoglycemia 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 27
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 2
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
 
D Back to top
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 1
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 1
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
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
Diffuse large B-cell lymphoma DLBCL | DLBL 1 2
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
 
E Back to top
Early Infantile Epileptic Encephalopathy 42 (EIEE42) 1 0
Early infantile epileptic encephalopathy-69; EIEE69 EIEE69; Developmental and Epileptic Encephalopathy 1 0
Early Onset Cerebellar Ataxia, Intellectual Disability and Epilepsy 1 0
Early repolarization syndrome 1 0
Ectodermal dysplasia-syndactyly 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 and Intellectual Disability 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 hemophilia C | plasma thromboplastin antecedent (PTA) deficiency | Rosenthal syndrome 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 2
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 Hyperaldosteronism Type IV 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 dermal hypoplasia 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 1 7
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 1
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
Hyperammonemia due to carbonic anhydrase VA deficiency 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 6
Idiopathic ventricular fibrillation 1 0
IgE responsiveness, atopic; IGER 2 0
Immunodeficiency 9 Immune dysfunction with T-cell inactivation due to calcium entry defect 1 1 0
Immunodeficiency, common variable, 3; CVID3 Common variable immunodeficiency 1 0
Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) 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 Inflammatory bowel disease 1 7
Inflammatory myofibroblastic tumor 1 1
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 | juvenile Still's disease 0 3
Juvenile idiopathic arthritis- polyarticular 0 0
Juvenile idiopathic arthritis- systemic systemic juvenile rheumatoid arthritis 0 4
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 5
Lupus nephritis 1 1
Lyme disease 1 0
Lymphedema, hereditary IA Hereditary lymphedema | Milroy disease 1 0
Lymphoadenopathic mastocytosis with eosinophilia 1 0
Lymphoma, Hodgkin, Classic; CHL Hodgkin lymphoma | Hodgkin's lymphoma 1 3
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 3
Mast cell disease Maculopapular cutaneous mastocytosis | Typical urticaria pigmentosa | Urticaria pigmentosa 1 0
Mastocytosis 1 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
Mitochondrial pyruvate carrier deficiency Familial atrial fibrillation 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 2
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 1 4
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 10 6
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 4
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
myocarditis 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
Netherton syndrome Bamboo hair syndrome | Comèl-Netherton syndrome 0 1
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
Neurodevelopmental disorder with autism 1 0
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements; NEDNEH 1 0
Neuromyelitis optica Devic's disease/syndrome | Neuromyelitis optica spectrum disorder | NMOSD 1 1
Neuropathic pain 1 0
Neuropathy, hereditary sensory and autonomic, type IA; HSAN1A Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathy type 1 1 0
Neuropathy, hereditary sensory and autonomic, type IIA; HSAN2A Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathy type 2 1 0
Neuropathy, hereditary sensory and autonomic, type VII; HSAN7 Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathy type 7 1 0
Neuropathy, hereditary sensory, type IE; HSN1E 1 0
Neurosensory nonsyndromic recessive deafness 4; NSRD4 Autosomal recessive non-syndromic sensorineural deafness type DFNB | Dilated vestibular aquaduct | Enlarged vestibular aqueduct 1 0
Neutropenia, severe congenital 1, autosomal dominant Autosomal dominant severe congenital neutropenia | Severe congenital neutropenia 1 0
Neutrophilia, hereditary 1 0
Nevus, epidermal 3 0
Nicolaides-Baraitser syndrome Intellectual disability - sparse hair - brachydactyly 1 0
Nicotine dependence, susceptibility to 2 0
Niemann-Pick disease 1 0
Night blindness 1 0
Night blindness, congenital stationary, autosomal dominant 2; CSNBAD2 Congenital stationary night blindness 1 0
Night blindness, congenital stationary, type 2A ; CSNB2A Congenital stationary night blindness 1 0
Night blindness, congenital stationary, type 1B; CSNB1B Congenital stationary night blindness 1 0
Night blindness, congenital stationary, type 1C; CSNB1C Congenital stationary night blindness 1 0
Night blindness, congenital stationary, type 1E; CSNB1E Congenital stationary night blindness 1 0
Nodular urticaria pigmentosa 1 0
Non-allergic (intrinsic) asthma 1 0
Nonautoimmune hyperthyroidism Familial hyperthyroidism due to mutations in TSH receptor 1 0
non-Hodgkin lymphoma 2 7
Non syndromic autosomal dominant long QT-syndrome 1 0
Non-syndromic hereditary deafness nonsyndromic deafness 1 0
Noonan syndrome 3; NS3 Noonan syndrome 1 0
Noonan syndrome 5; NS5 Noonan syndrome 1 0
Noonan syndrome 6; NS6 Noonan syndrome 1 0
Noonan syndrome 7; NS7 Noonan syndrome 1 0
Normokalemic periodic paralysis 2 0
Normosmic congenital hypogonadotropic hypogonadism 2 0
Nystagmus 6, congenital, X-linked; NYS6 Congenital nystagmus | Idiopathic infantile nystagmus 1 0
 
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Obesity 4 0
Obesity due to MC3R deficiency 1 0
Obesity due to melanocortin 4 receptor deficiency Obesity 1 0
Obesity due to prohormone convertase I deficiency 1 0
Obesity, hyperphagia, and developmental delay; OBHD 1 0
Obsessive-compulsive disorder; OCD 2 0
Ocular albinism, type I; OA1 Ocular albinism | X-linked recessive ocular albinism 1 0
Ocular albinism with congenital sensorineural deafness 1 0
Oculocutaneous albinism type 2 Oculocutaneous albinism 1 0
Oculocutaneous albinism type 1A Oculocutaneous albinism 1 0
Oculocutaneous albinism type 1B Oculocutaneous albinism 1 0
Oguchi disease 2 1 0
Ohtahara syndrome 1 0
Oligoarticular juvenile arthritis 1 0
Oligodontia 1 0
Omenn syndrome 1 0
Opsoclonus-myoclonus syndrome dancing eye syndrome | Kinsbourne syndrome | OMA syndrome | paraneoplastic opsoclonus-myoclonus | paraneoplastic opsoclonus-myoclonus-ataxia 1 0
Orthostatic intolerance 1 0
Osteoarthritis 6 25
Osteogenesis imperfecta, type XIII 1 0
Osteogenic sarcoma Osteosarcoma 1 0
Osteoglophonic dysplasia Osteoglophonic dwarfism 1 0
Osteoporosis 3 0
Otitis externa swimmer's ear 0 1
OTULIN-related autoinflammatory syndrome (ORAS) 1 0
Ovarian cancer 7 0
Ovarian dysgenesis 1; ODG1 46,XX gonadal dysgenesis 1 0
Ovarian hyperstimulation syndrome 1 0
 
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Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques Olmsted syndrome 1 0
Pancolitis 1 0
Pancreatic cancer 3 0
Panic disorder 1; PAND1 1 0
Papillon-Lefevre syndrome Papillon-Lefevre disease 1 0
Paramyotonia Congenita of Von Eulenburg 1 0
Parastremmatic dwarfism 1 0
Parkinson Disease Parkinson's disease 5 0
Parkinson disease 5, autosomal dominant; PARK5 Parkinson's disease 1 0
Parkinson disease 8, autosomal dominant; PARK8 Hereditary Parkinson disease with late-onset | Parkinson's disease 1 0
Parkinson disease 6, autosomal recessive early-onset; PARK6 Parkinson's disease | Young adult-onset Parkinsonism 1 0
Parkinsonism-dystonia, infantile; PKDYS Infantile dystonia-parkinsonism 1 0
Paroxysmal Extreme Pain Disorder 1 0
Partial androgen insensitivity syndrome 1 0
Partial hydatidiform mole Hydatidiform mole, recurrent, 1; HYDM1 1 0
Pediatric hepatocellular carcinoma 1 0
Pediatric systemic lupus erythematosus Systemic lupus erythematosus 1 0
Pemphigus 1 2
Pendred syndrome 1 0
Periodic fever, menstrual cycle dependent 1 0
Periodic paralysis 1 0
Periodontal disease 1 0
Periodontitis, aggressive, 1 Aggressive periodontitis 1 0
Persistent hyperplastic primary vitreous 1 0
Persistent Mullerian duct syndrome, types I and II 1 0
Peters anomaly 1 0
Peutz-Jeghers syndrome 1 0
Pfeiffer syndrome type 1 Pfeiffer syndrome 2 0
Pfeiffer syndrome type 2 Pfeiffer syndrome 1 0
Pfeiffer syndrome type 3 Pfeiffer syndrome 1 0
Phakomatosis pigmentokeratotica 1 0
Pheochromocytoma 1 0
Piebaldism Piebald trait 1 0
Pigmented nodular adrenocortical disease, primary, 1; PPNAD1 Primary pigmented nodular adrenocortical disease 1 0
Pilocytic astrocytoma 4 0
Pituitary adenoma, growth hormone-secreting, 1; PAGH1 Growth hormone secreting pituitary adenoma 1 0
Plaque-form urticaria pigmentosa 1 0
Plasmodium vivax malaria 1 0
Platelet-activating factor acetylhydrolase deficiency 1 0
Pneumocystis pneumonia 1 0
Pneumonia 1 0
Polycystic kidney disease 2 Autosomal dominant polycystic kidney disease | Polycystic kidney disease 1 0
Polycythemia vera 2 1
Polyhydramnios, megalencephaly, and symptomatic epilepsy; PMSE 1 0
Polymyalgia rheumatica 0 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) 1 0
polyostotic sclerosing histiocytosis Erdheim–Chester disease | Erdheim–Chester syndrome 0 1
Polyposis syndrome, hereditary mixed, 2; HMPS2 1 0
Polysubstance abuse, susceptibility to; PSAB 1 0
Pontocerebellar hypoplasia type 1A; PCH1A 1 0
Popliteal pterygium syndrome 2, lethal type Bartsocas-Papas syndrome | Popliteal pterygium syndrome 1 0
Porokeratosis 3, disseminated superficial actinic type; POROK3 Disseminated superficial actinic porokeratosis 1 0
Postaxial acrofacial dysostosis Miller syndrome 1 0
Posterior polar cataract Cataract 6, multiple types; CTRCT6 | Posterior subcapsular cataract 1 0
Post-traumatic stress disorder 1 0
Prader-Willi syndrome 1 0
Precocious puberty, central, 1 1 0
Precocious puberty, male-limited Familial male-limited precocious puberty 1 0
Precursor B-cell acute lymphoblastic leukemia Acute lymphocytic leukemia | Leukemia, acute lymphoblastic; ALL | Leukemia, B-cell acute lymphoblastic, susceptibility to 4 0
Precursor T-cell acute lymphoblastic leukemia Acute lymphocytic leukemia | Leukemia, acute lymphoblastic; ALL | Leukemia, T-cell acute lymphoblastic, susceptibility to 3 0
Preeclampsia eclampsia 1 | PEE1 1 0
Pregnancy loss, recurrent, susceptibility to, 1 1 0
Pregnancy loss, recurrent, susceptibility to, 2 1 0
Prekallikrein deficiency Fletcher factor deficiency 1 0
Premature chromatid separation trait 1 0
Premature ovarian failure 7; POF7 Primary ovarian failure 1 0
Preterm birth Premature labor 2 0
Primary adrenal insufficiency 1 0
Primary aldosteronism, seizures, and neurologic abnormalities; PASNA Aldosterone-producing adenoma with seizures and neurological abnormalities 1 0
Primary cutaneous amyloidosis familial primary localized cutaneous amyloidosis 1 0
Primary hypomagnesemia with secondary hypocalcemia Hypomagnesemia 1, intestinal 1 0
Primary ovarian failure Premature ovarian failure 1 0
Primary progressive multiple sclerosis PPMS | Primary-progressive MS 0 1
Primary sclerosing cholangitis 1 1
Progressive cone dystrophy 1 0
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 Autosomal dominant progressive external ophthalmoplegia 1 0
Progressive familial heart block, type IA; PFHB1A Familial progressive cardiac conduction defect 1 0
Progressive familial heart block, type IB, PFHB1B Familial progressive cardiac conduction defect 1 0
Progressive non-fluent aphasia 1 0
Prolidase deficiency 1 0
Prostate cancer 9 0
Prostate cancer/brain cancer susceptibility 1 0
Proteus syndrome 1 0
Prothrombin deficiency, congenital Congenital factor II deficiency | Prothrombin deficiency 1 0
Prune belly syndrome Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism | Eagle-Barrett syndrome 1 0
Pruritus 0 4
Pseudocorpus luteum insufficiency Progesterone resistance 1 0
Pseudohyperaldosteronism type 2 Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 1 0
Pseudohypoaldosteronism, type I, autosomal recessive; PHA1B Autosomal recessive pseudohypoaldosteronism type 1 | Generalized pseudohypoaldosteronism type 1 | Pseudohypoaldosteronism 3 0
Pseudohypoaldosteronism, type IIB; PHA2B Pseudohypoaldosteronism | Pseudohypoaldosteronism type 2B 1 0
Pseudohypoaldosteronism, type IIC; PHA2C Pseudohypoaldosteronism | Pseudohypoaldosteronism type 2C 1 0
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 1 0
Pseudoxanthomatous diffuse cutaneous mastocytosis 1 0
Psoriasis 4 58
Psoriatic arthritis arthritis psoriatica | arthropathic psoriasis 0 17
Psychomotor delay 1 0
Pulmonary hypertension, primary, 1; PPH1 Heritable pulmonary arterial hypertension | Idiopathic pulmonary arterial hypertension | Primary pulmonary hypertension 1 0
Pulmonary hypertension, primary 4; PPH4 Heritable pulmonary arterial hypertension | Idiopathic pulmonary arterial hypertension | Primary pulmonary hypertension 1 0
Pulmonary venoocclusive disease 1, autosomal dominant; PVOD1 Pulmonary venoocclusive disease 1 0
Pulmonary venoocclusive disease 2, autosomal recessive; PVOD2 Pulmonary venoocclusive disease 1 0
Purine nucleoside phosphorylase deficiency 1 0
Pycnodysostosis 1 0
Pyoderma gangrenosum 0 1
 
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Quebec platelet disorder 1 0
 
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Rabson-Mendenhall syndrome Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 1 0
RAS-associated autoimmune leukoproliferative disorder; RALD 1 0
Recombinant chromosome 8 syndrome 1 0
Rectum cancer 1 0
Recurrent miscarriage 1 0
Relapsing-remitting multiple sclerosis Relapsing-remitting MS | RRMS 1 12
Renal agenesis 1 0
Renal carcinoma Kidney carcinoma 1 0
Renal cell carcinoma 3 3
Renal cell carcinoma, papillary, 1; RCCP1 Hereditary papillary renal cell carcinoma | Papillary renal cell carcinoma 1 0
Renal glucosuria Renal glycosuria 1 0
Renal-hepatic-pancreatic dysplasia 2; RHPD2 Renal-hepatic-pancreatic dysplasia 1 0
Renal pseudohypoaldosteronism type 1 Pseudohypoaldosteronism, type 1, autosomal dominant; PHA1A 1 0
Renal tubular dysgenesis 3 0
Resistance to thyrotropin-releasing hormone syndrome 1 0
Restenosis and angiogenesis 1 0
Reticulate acropigmentation of Kitamura; RAK 1 0
Retinal cone dystrophy 3B; RCD3B Cone dystrophy with supernormal rod response 1 0
Retinitis pigmentosa 10; RP10 Retinitis pigmentosa 1 0
Retinitis pigmentosa 17; RP17 Retinitis pigmentosa 1 0
Retinitis pigmentosa 37; RP37 Retinitis pigmentosa 1 0
Retinitis pigmentosa 38; RP38 Retinitis pigmentosa 1 0
Retinitis pigmentosa 40; RP40 Retinitis pigmentosa 1 0
Retinitis pigmentosa 45; RP45 Retinitis pigmentosa 1 0
Retinitis pigmentosa 49; RP49 Retinitis pigmentosa 1 0
Retinitis pigmentosa 62; RP62 Retinitis pigmentosa 1 0
Retinitis pigmentosa 67; RP67 Retinitis pigmentosa 1 0
Retinopathy of prematurity Exudative vitreoretinopathy 1; EVR1 1 0
Rhabdoid tumor predisposition syndrome 2 Familial rhabdoid tumor 1 0
Rheumatoid arthritis 19 129
Robinow syndrome, autosomal recessive 1 1
Rolandic epilepsy Benign familial epilepsy of childhood with rolandic spikes 1 0
Rolandic epilepsy - speech dyspraxia 1 0
Rubinstein-Taybi syndrome 1; RSTS1 Rubinstein-Taybi syndrome | Rubinstein-Taybi syndrome due to CREBBP mutations 1 0
Rubinstein-Taybi syndrome 2; RSTS2 Rubinstein-Taybi syndrome | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0
 
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Saethre-Chotzen syndrome 2 0
Sarcoidosis Boeck sarcoid | lymphogranulomatosis 0 2
Sarcoidosis, early-onset 1 0
Scaphocephaly, maxillary retrusion, and mental retardation Familial scaphocephaly syndrome, McGillivray type 1 0
Scapuloperoneal spinal muscular atrophy; SPSMA 1 0
Schimmelpenning-Feuerstein-Mims syndrome; SFM Linear nevus sebaceus syndrome 3 0
Schizophrenia 8 0
Schizophrenia 13; SCZD13 Schizophrenia 1 0
Schizophrenia 16; SCZD16 Schizophrenia 1 0
Schnitzler syndrome Chronic urticaria with gammopathy | Chronic urticaria with macroglobulinemia 0 1
Scleroderma systemic sclerosis 0 4
Seckel syndrome 1 Seckel syndrome 1 0
Segawa syndrome, autosomal recessive Autosomal recessive dopa-responsive dystonia 1 0
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 1 0
Seizures, benign familial infantile, 3; BFIS3 Benign familial infantile epilepsy | Benign familial neonatal-infantile seizures 1 0
Seizures, benign familial neonatal, 1; BFNS1 Benign familial neonatal-infantile seizures | Benign familial neonatal seizures | Benign neonatal seizures 1 0
Seizures, benign familial neonatal, 2; BFNS2 Benign familial neonatal seizures | Benign neonatal seizures 1 0
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance; SESAMES EAST syndrome 1 0
Seizure susceptibility 1 0
Selective pituitary resistance to thyroid hormone 1 0
Selective T-cell defect Combined immunodeficiency due to ZAP70 deficiency 1 0
Semantic dementia 1 0
Sepsis Septicemia 2 1
Septo-optic dysplasia 2 0
Severe achondroplasia - developmental delay - acanthosis nigricans 1 0
severe combined immunodeficiency, autosomal recessive, due to FOXN1 deficiency. T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1 0
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 0
Severe combined immunodeficiency due to adenosine deaminase deficiency ADA-SCID | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase 1 0
Severe combined immunodeficiency due to LCK deficiency Immunodeficiency 22; IMD22 1 0
Severe congenital neutropenia Kostmann syndrome 1 0
Severe hemophilia A Hemophilia A; HEMA 1 0
Severe hemophilia B Hemophilia B; HEMB 1 0
Severe progressive cardiac conduction disorder 1 0
Short QT syndrome-1; SQT1 Familial short QT syndrome 1 0
Short QT syndrome 2; SQT2 Familial short QT syndrome 1 0
Short QT syndrome-3; SQT3 Familial short QT syndrome 1 0
Short-rib thoracic dysplasia 6 with or without polydactyly Majewski syndrome | Short rib-polydactyly syndrome, Majewski type 1 0
Sickle cell anemia 2 0
Sick sinus syndrome 2, autosomal dominant; SSS2 Atrial fibrillation with bradyarrhythmia | Familial sick sinus syndrome | Sick sinus syndrome | Sinus bradycardia syndrome, familial, autosomal dominant | Sinus node disease, familial, autosomal dominant 1 0
Sick sinus syndrome 1, autosomal recessive; SSS1 Familial sick sinus syndrome | Sick sinus syndrome | Sick sinus syndrome, congenital | Sinus bradycardia syndrome, familial | Sinus node disease, familial, autosomal recessive | Sinus rhythm, congenital absence of 1 0
Simpson-Golabi-Behmel syndrome Golabi-Rosen syndrome | SGBS1 | Simpson-Golabi-Behmel syndrome type 1 | X-linked dysplasia gigantism syndrome 1 0
Sinoatrial node dysfunction and deafness; SANDD 1 0
Sjögren's syndrome Sicca syndrome | Sjögren-Gougerot syndrome 2 9
Skin/hair/eye pigmentation, variation in, 2; SHEP2 1 0
Smouldering systemic mastocytosis 1 0
Snowflake vitreoretinal degeneration; SVD 1 0
Sodium channelopathy-related small fiber neuropathy 1 0
Speech and neuromotor retardation, hyperactivity, cranial malformation, seizures 1 0
Spermatogenic failure 1 0
Spermatogenic failure 5; SPGF5 Male infertility due to large-headed multiflagellar polyploid spermatozoa 1 0
Spermatogenic failure 7; SPGF7 Non-syndromic male infertility due to sperm motility disorder 1 0
Spermatogenic failure 8; SPGF8 Male infertility with azoospermia or oligozoospermia due to single gene mutation 1 0
Spinal and bulbar muscular atrophy, X-linked 1; SMAX1 Kennedy disease | Kennedy's disease 1 0
Spinal cord injury 1 0
Spinal muscular atrophy, distal, congenital nonprogressive Autosomal dominant congenital benign spinal muscular atrophy 1 0
Spinal muscular atrophy, type III; SMA3 Kugelberg-Welander disease | Proximal spinal muscular atrophy type 3 | Spinal muscular atrophy 1 0
Spinal muscular atrophy, type II; SMA2 Proximal spinal muscular atrophy type 2 | Spinal muscular atrophy 1 0
Spinal muscular atrophy, type I; SMA1 Proximal spinal muscular atrophy type 1 | Spinal muscular atrophy | Werdnig-Hoffmann disease 1 0
Spinocerebellar Ataxia 42 1 0
Spinocerebellar ataxia, autosomal recessive 13; SCAR13 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency 1 0
Spinocerebellar ataxia, autosomal recessive 16; SCAR16 1 0
Spinocerebellar ataxia, autosomal recessive 18; SCAR18 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency 1 0
Spinocerebellar ataxia 11; SCA11 Spinocerebellar ataxia 1 0
Spinocerebellar ataxia 13; SCA13 Spinocerebellar ataxia 1 0
Spinocerebellar ataxia 14; SCA14 Spinocerebellar ataxia 1 0
Spinocerebellar ataxia 19; SCA19 Spinocerebellar ataxia 22; SCA22 | Spinocerebellar ataxia type 19/22 1 0
Spinocerebellar ataxia 20; SCA20 1 0
Spinocerebellar ataxia 26; SCA26 1 0
Spinocerebellar ataxia 6; SCA6 Spinocerebellar ataxia 1 0
Spinocerebellar ataxia 48: SCA48, autosomal dominant 1 0
Spondyloepimetaphyseal dysplasia, Missouri type Metaphyseal anadysplasia | Metaphyseal anadysplasia 1 1 0
Spondyloepiphyseal dysplasia, Maroteaux type 1 0
Spondylometaepiphyseal dysplasia, short limb-hand type Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification 1 0
Spondylometaphyseal dysplasia, Kozlowski type; SMDK 1 0
Sporadic amyotrophic lateral sclerosis SALS 3 0
Sporadic nocturnal frontal lobe epilepsy 1 0
Squamous cell carcinoma, head and neck HNSCC 2 0
Staphylococcal infection Staphylococcal infectious disease 1 0
Stargardt disease 1 1 0
Stevens-Johnson syndrome Severe cutaneous adverse reaction, susceptibility to 2 0
Still's disease, adult onset 0 2
STING-associated vasculopathy with onset in infancy SAVI | STING-associated vasculopathy, infantile-onset 1 0
Stroke, hemorrhagic 2 0
Stroke, ischemic Cerebral infarction | Cerebrovascular accident 4 0
Succinic semialdehyde dehydrogenase deficiency; SSADHD 4-hydroxybutyric aciduria 1 0
Sudden infant death syndrome 1 0
Sudden unexpected death in epilepsy SUDEP 1 0
Sudden unexplained death 1 0
Surfactant metabolism dysfunction, pulmonary, 4; SMDP4 Congenital pulmonary alveolar proteinosis | Pulmonary alveolar proteinosis 1 0
Symptomatic form of hemophilia A in female carriers 1 0
Symptomatic form of hemophilia B in female carriers 1 0
Syndromic X-linked mental retardation due to JARID1C mutation Mental retardation, X-linked, syndromic, Claes-Jensen type 1 0
Systemic lupus erythematosus 6 28
Systemic lupus erythematosus, susceptibility to, 12; SLEB12 Systemic lupus erythematosus 1 0
Systemic lupus erythematosus, susceptibility to, 1; SLEB1 Systemic lupus erythematosus 1 0
Systemic lupus erythematosus, susceptibility to, 2; SLEB2 Systemic lupus erythematosus 1 0
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 1 0
Systemic scleroderma Scleroderma, familial progressive | Systemic sclerosis 1 2
Sézary syndrome Sézary lymphoma 1 0
 
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Tatton-Brown-Rahman syndrome; TBRS Tall stature-intellectual disability-facial dysmorphism syndrome 1 0
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Combined immunodeficiency due to STK4 deficiency 1 0
Telangiectasia, hereditary hemorrhagic, type 2 Hereditary hemorrhagic telangiectasia 1 0
Telangiectasia macularis eruptiva perstans 1 0
Temperature-sensitive oculocutaneous albinism type 1 1 0
Temporal arteritis Giant cell arteritis 1 4
Temporal lobe epilepsy 1 0
Test Disease 0 0
Testicular cancer 1 0
Testicular germ cell tumor Seminoma | Testicular pure germ cell tumor 3 0
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 1 0
Thanatophoric dysplasia, type I Thanatophoric dysplasia 1 0
Thanatophoric dysplasia, type II Thanatophoric dysplasia 1 0
Thrombocythemia 2; THCYT2 Essential thrombocythemia | Essential thrombocytosis 1 0
Thrombocythemia 3; THCYT3 Essential thrombocythemia | Essential thrombocytosis 1 0
Thrombocytopenia 2; THC2 Autosomal thrombocytopenia with normal platelets | Thrombocytopenia 1 0
Thrombophilia due to activated protein C resistance Thrombophilia 1 0
Thrombophilia due to antithrombin III deficiency Thrombophilia 1 0
Thrombophilia due to protein C deficiency, autosomal dominant Hereditary thrombophilia due to congenital protein C deficiency | Thrombophilia 1 0
Thrombophilia due to protein C deficiency, autosomal recessive Hereditary thrombophilia due to congenital protein C deficiency | Thrombophilia 1 0
Thrombophilia due to thrombin defect Thrombophilia 1 0
Thrombophilia, X-linked, due to factor IX defect Thrombophilia 1 0
Thyroid carcinoma, familial medullary Familial medullary thyroid carcinoma 2 0
Thyroid carcinoma, follicular; FTC Differentiated thyroid carcinoma | Follicular thyroid carcinoma 3 0
Thyroid carcinoma, papillary Differentiated thyroid carcinoma | Papillary thyroid carcinoma 4 0
Thyroid dyshormonogenesis 2A; TDH2A 1 0
Thyroid hypoplasia 1 0
Thyrotoxic periodic paralysis 1 0
Thyrotoxic periodic paralysis, susceptibility to, 1; TTPP1 1 0
Tibial muscular dystrophy, tardive 1 0
Timothy syndrome 1 0
Tobacco addiction, susceptibility to 2 0
Total congenital cataract Cataract 6, multiple types; CTRCT6 1 0
Traumatic and possibly ischemic brain injury 1 0
Tremor, hereditary essential, 1; ETM1 Essential tremor | Hereditary essential tremor 1 0
Trigonocephaly 1; TRIGNO1 Isolated trigonocephaly | Metopic craniosynostosis 1 0
Tropical pancreatitis 1 0
Trypsinogen deficiency 1 0
Tumor predisposition syndrome BAP1-related tumor predisposition syndrome 1 0
Tyrosinemia, type III 1 0
 
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Ulcerative colitis Inflammatory bowel disease 1; IBD1 3 24
Unilateral renal dysplasia 1 0
Urinary tract infection Acute cystitis 1 0
Usher syndrome, type IIC; USH2C Usher syndrome | Usher syndrome type 2 1 0
Uveal melanoma 1 0
Uveitis 0 6
 
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Variation in resting heart rate 1 0
Vascular injury 1 0
Vasculitis Angiitis 0 3
Velocardiofacial syndrome 1 0
Venous malformations, multiple cutaneous and mucosal Mucocutaneous venous malformations 1 0
Ventricular fibrillation during myocardial infarction, susceptibility to Idiopathic ventricular fibrillation, not Brugada type 1 0
Vitamin D-dependent rickets, type 2A Hypocalcemic vitamin D-resistant rickets | Rickets 1 0
Vitamin K-dependent clotting factors, combined deficiency of, 1; VKCFD1 Hereditary combined deficiency of vitamin K-dependent clotting factors 1 0
Vitamin K-dependent clotting factors, combined deficiency of, 2; VKCFD2 Hereditary combined deficiency of vitamin K-dependent clotting factors 1 0
Vitiligo 0 1
Vitiligo-associated multiple autoimmune disease susceptibility 1; VAMAS1 Vitiligo-associated autoimmune disease 1 0
 
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Waardenburg syndrome, type 4A; WS4A Waardenburg-Shah syndrome | Waardenburg's syndrome 1 0
Waldenstrom macroglobulinemia lymphoplasmacytic lymphoma | Macroglobulinemia, Waldenstrom, somatic included | Macroglobulinemia, Waldenstrom, susceptibility to, 1 | WM 1 2
Warfarin resistance Coumarin resistance 1 0
Weaver syndrome 1 0
Wegener granulomatosis Wegener's granulomatosis 1 0
Well-differentiated liposarcoma Liposarcoma 1 0
West nile virus, susceptibility to West Nile virus infectious disease 1 0
West syndrome 2 0
WHIM syndrome Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) | Warts-Infections-Leukopenia-Myelokatexis (WILM) 1 1
Williams-Beuren syndrome Williams syndrome 1 0
Wilm's tumor Nephroblastoma 1 0
Wilson-Turner X-linked mental retardation syndrome Wilson-Turner syndrome 1 0
Winchester syndrome 2 0
Wolff-Parkinson-White syndrome 1 0
 
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Xanthinuria type I 1 0
46,XX gonadal dysgenesis 1 0
46,XX sex reversal 1; SRXX1 1 0
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Pseudovaginal perineoscrotal hypospadias; PPSH 1 0
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency 46 XY gonadal dysgenesis 1 0
46,XY sex reversal 2; SRXY2 46,XY complete gonadal dysgenesis | 46 XY gonadal dysgenesis | 46,XY partial gonadal dysgenesis 1 0
46, XY sex reversal 3; SRXY3 46,XY complete gonadal dysgenesis | 46 XY gonadal dysgenesis | 46,XY partial gonadal dysgenesis 1 0
46, XY sex reversal 6; SRXY6 46,XY complete gonadal dysgenesis | 46 XY gonadal dysgenesis | 46,XY partial gonadal dysgenesis 1 0
 
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Young adult-onset Parkinsonism 2 0