This resource permits searching for associations between genes and human diseases. Diseases are shown for which a chicken ortholog of the associated human gene has been identified.
Diseases
Select an OMIM human disease from the pulldown menu, or enter a specific disease name in the search box, then click "Go". You can enter a full disease name, or any term or word that is part of one or more disease names.The query will return all OMIM disease names containing the search term.
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17-beta-hydroxysteroid dehydrogenase X deficiency 2-methylbutyrylglycinuria 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyisobutryl-CoA hydrolase deficiency 3-Methylcrotonyl-CoA carboxylase 1 deficiency 46XY sex reversal 2, dosage-sensitive 46XY sex reversal 3 46XY sex reversal 5 46XY sex reversal 6 5-fluorouracil toxicity 6-mercaptopurine sensitivity ABCD syndrome Abetalipoproteinemia ACAD9 deficiency Acampomelic campomelic dysplasia Acatalasemia Acetyl-CoA carboxylase deficiency Acheiropody Achondrogenesis Ib Achondrogenesis, type IA Achondrogenesis, type II or hypochondrogenesis Achondroplasia Achromatopsia-2 Achromatopsia-3 Acne inversa, familial, 1 Acne inversa, familial, 3 {Acquired long QT syndrome, reduced susceptibility to} Acrocapitofemoral dysplasia Acrodysostosis 1, with or without hormone resistance Acrokeratosis verruciformis Acromegaly Acromesomelic dysplasia, Hunter-Thompson type Acromicric dysplasia ACTH-independent macronodular adrenal hyperplasia Acyl-CoA dehydrogenase, short-chain, deficiency of Adenocarcinoma of lung, somatic Adenocarcinoma of lung, somatic Adenocarcinoma of lung, somatic Adenocarcinoma, ovarian, somatic Adenomas, multiple colorectal Adenomas, salivary gland pleomorphic Adenomatous polyposis coli Adenosine deaminase deficiency, partial Adenylosuccinase deficiency Adiponectin deficiency Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete Adrenocorticotropic hormone deficiency Adrenoleukodystrophy, neonatal Adrenoleukodystrophy, neonatal Adrenoleukodystrophy, neonatal Adrenoleukodystrophy, neonatal Adrenoleukodystrophy, neonatal Adult i phenotype with congenital cataract Adult i phenotype without cataract ADULT syndrome Advanced sleep phase syndrome, familial Afibrinogenemia, congenital Afibrinogenemia, congenital Agammaglobulinemia 4 Agammaglobulinemia 5 Agammaglobulinemia 6 Agammaglobulinemia and isolated hormone deficiency Agammaglobulinemia, X-linked 1 AGAT deficiency Agnathia-otocephaly complex Aicardi-Goutieres syndrome 2 Aicardi-Goutieres syndrome 5 AICA-ribosiduria due to ATIC deficiency {AIDS, resistance to} Alagille syndrome Alagille syndrome 2 Albinism, brown oculocutaneous Albinism, oculocutaneous, type IA Albinism, oculocutaneous, type IB Albinism, oculocutaneous, type II Albinism, oculocutaneous, type III {Alcohol dependence, susceptibility to} {Alcohol dependence, susceptibility to} {Alcohol dependence, susceptibility to} Alcohol sensitivity, acute Alexander disease Alkaptonuria Allan-Herndon-Dudley syndrome Alpha-2-macroglobulin deficiency Alpha-2-plasmin inhibitor deficiency Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Alpha-ketoglutarate dehydrogenase deficiency Alpha-methylacetoacetic aciduria Alpha-methylacyl-CoA racemase deficiency Alpha-thalassemia/mental retardation syndrome Alpha-thalassemia myelodysplasia syndrome, somatic Alport syndrome Alport syndrome, autosomal dominant Alport syndrome, autosomal recessive Alport syndrome, autosomal recessive Alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar soft-part sarcoma Alzheimer disease 1, familial Alzheimer disease-4 {Alzheimer disease, late-onset} {Alzheimer disease, late-onset, susceptibility to} {Alzheimer disease, pathogenesis, association with} {Alzheimer disease, susceptibility to} {Alzheimer disease, susceptibility to} {Alzheimer disease, susceptibility to} {Alzheimer disease, susceptibility to} {Alzheimer disease, susceptibility to} Alzheimer disease, type 3 Alzheimer disease, type 3, with spastic paraparesis and apraxia Alzheimer disease, type 3, with spastic paraparesis and unusual plaques Amelogenesis imperfecta, hypomaturation type, IIA3 Amelogenesis imperfecta, type 3 Amish infantile epilepsy syndrome [AMP deaminase deficiency, erythrocytic] Amyloidosis, 3 or more types Amyloidosis, Finnish type Amyloidosis, hereditary renal Amyloidosis, hereditary, transthyretin-related Amyloidosis, primary localized cutaneous, 1 Amyloidosis, primary localized cutaneous, 2 Amyloidosis, renal Amyotrophic lateral sclerosis 10, with or without FTD Amyotrophic lateral sclerosis 11 Amyotrophic lateral sclerosis 12 Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia Amyotrophic lateral sclerosis 17 Amyotrophic lateral sclerosis 4, juvenile Amyotrophic lateral sclerosis 8 Amyotrophic lateral sclerosis, due to SOD1 deficiency Amyotrophic lateral sclerosis, juvenile {Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to} {Amyotrophic lateral sclerosis, susceptibility to} Amyotrophy, hereditary neuralgic [Analgesia from kappa-opioid receptor agonist, female-specific] Androgen insensitivity Androgen insensitivity, partial, with or without breast cancer Anemia, congenital dyserythropoietic, type I Anemia, dyserythropoietic congenital, type II Anemia, hemolytic, due to UMPH1 deficiency Anemia, hemolytic, Rh-null, regulator type Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Anemia, sideroblastic, with ataxia Angelman syndrome Angelman syndrome-like Angiopathy, hereditary, with nephropathy, aneurysms, and muscle Aniridia {Anorexia nervosa, susceptibility to} {Anorexia nervosa, susceptibility to} Anterior segment anomalies with or without cataract Anterior segment mesenchymal dysgenesis Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis {Anxiety-related personality traits} Aortic aneurysm, familial thoracic 4 Aortic aneurysm, familial thoracic 6 Aortic aneurysm, familial thoracic 7 Aortic valve disease Apert syndrome Aphakia, congenital primary {Aplastic anemia, susceptibility to} Aromatase deficiency Aromatase excess syndrome Aromatic L-amino acid decarboxylase deficiency Arrhythmogenic right ventricular dysplasia 1 Arrhythmogenic right ventricular dysplasia 10 Arrhythmogenic right ventricular dysplasia 11 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Arrhythmogenic right ventricular dysplasia 5 Arrhythmogenic right ventricular dysplasia 8 Arrhythmogenic right ventricular dysplasia 9 Arterial calcification, generalized, of infancy, 1 Arterial calcification, generalized, of infancy, 2 Arterial tortuosity syndrome Arthrogryposis, lethal, with anterior horn cell disease Arthrogryposis multiplex congenita, distal, type 2B Arthrogryposis, renal dysfunction, and cholestasis 1 Arthrogryposis, renal dysfunction, and cholestasis 2 Arthropathy, progressive pseudorheumatoid, of childhood Arthyrgryposis, distal, type 2B Aspartylglucosaminuria {Asperger syndrome susceptibility, X-linked 2} Asphyxiating thoracic dystrophy 2 Asphyxiating thoracic dystrophy 3 Asphyxiating thoracic dystrophy 4 {Asthma} {Asthma, nocturnal, susceptibility to} {Asthma, susceptibility to} {Asthma, susceptibility to} {Asthma, susceptibility to} {Asthma, susceptibility to, 2} Ataxia, cerebellar, Cayman type Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Ataxia-ocular apraxia-2 Ataxia, posterior column, with retinitis pigmentosa Ataxia, spastic, 4 Ataxia, spastic, 5, autosomal recessive Ataxia-telangiectasia Ataxia-telangiectasia-like disorder Ataxia with isolated vitamin E deficiency Atelosteogenesis II Atelosteogenesis, type I Atelosteogenesis, type III Atopy {Atopy, susceptibility to} {Atopy, susceptibility to} Atrial fibrillation, familial, 10 Atrial fibrillation, familial, 11 Atrial fibrillation, familial, 3 Atrial fibrillation, familial, 4 Atrial fibrillation, familial, 7 Atrial fibrillation, familial, 9 Atrial septal defect 2 Atrial septal defect 4 Atrial septal defect 5 Atrial septal defect 6 Atrial septal defect 7, with or without AV conduction defects Atrioventricular septal defect 3 Atrioventricular septal defect 4 {Attention deficit-hyperactivity disorder} {Attention deficit-hyperactivity disorder, susceptibility to} {Attention deficit-hyperactivity disorder, susceptibility to, 7} Atypical mycobacteriosis, familial, X-linked 2 Auditory neuropathy, autosomal recessive, 1 {Autism susceptibility 16} {Autism susceptibility 17} {Autism susceptibility, X-linked 2} {Autism suseptibility 9} Autoimmune disease, syndromic multisystem {Autoimmune lymphoproliferative syndrome} Autoimmune lymphoproliferative syndrome, type IA Autoimmune lymphoproliferative syndrome, type IB Autoimmune lymphoproliferative syndrome, type II Autoimmune lymphoproliferative syndrome type IV Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia {Autoimmune thyroid disease, susceptibility to, 3} Avascular necrosis of the femoral head Axenfeld-Rieger syndrome, type 1 {Bacteremia, protection against} {Bacteremia, susceptibility to} Baller-Gerold syndrome Bannayan-Riley-Ruvalcaba syndrome Baraitser-Winter syndrome 2 Baraitser-Winter syndrome 2 Bardet-Biedl syndrome 10 Bardet-Biedl syndrome 12 Bardet-Biedl syndrome 13 Bardet-Biedl syndrome 14 {Bardet-Biedl syndrome 14, modifier of} Bardet-Biedl syndrome 15 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 6 Bardet-Biedl syndrome 8 Bardet-Biedl syndrome 9 Bare lymphocyte syndrome, type I Bare lymphocyte syndrome, type II, complementation group A Bare lymphocyte syndrome, type II, complementation group D Bartter syndrome, type 1 Bartter syndrome, type 2 Bartter syndrome, type 3 Bartter syndrome, type 4a Bartter syndrome, type 4, digenic Basal cell carcinoma, somatic Basal cell carcinoma, somatic Basal cell nevus syndrome Basal laminar drusen BCG and salmonella infection, disseminated BCG infection, generalized familial Beare-Stevenson cutis gyrata syndrome Becker muscular dystrophy Beckwith-Wiedemann syndrome Bent bone dysplasia syndrome Bernard-Soulier syndrome, type A1 (recessive) Bernard-Soulier syndrome, type A2 (dominant) Bernard-Soulier syndrome, type B Bernard-Soulier syndrome, type C Best macular dystrophy Bestrophinopathy Beta-ureidopropionase deficiency Bethlem myopathy Bethlem myopathy Bethlem myopathy Bietti crystalline corneoretinal dystrophy Bifid nose with or without anorectal and renal anomalies Bile acid malabsorption, primary Bile acid synthesis defect, congenital, 2 Bile acid synthesis defect, congenital, 3 Bile acid synthesis defect, congenital, 4 [Bilirubin, serum level of, QTL1] Biotinidase deficiency Birk-Barel mental retardation dysmorphism syndrome Birt-Hogg-Dube syndrome Bjornstad syndrome {Bladder cancer, somatic} Bladder cancer, somatic Bladder cancer, somatic Bladder cancer, somatic {?Bladder cancer susceptibility} Blepharophimosis, epicanthus inversus, and ptosis, type 1 Blepharophimosis, epicanthus inversus, and ptosis, type 2 {Blepharospasm, primary benign} [Blood group, Colton] [Blood group GIL] [Blood group, Ii] [Blood group, John-Milton-Hagen system] [Blood group, Kell] [Blood group, P system] [Blood group, P system] [Blood group, Raph] [Blood pressure regulation QTL] [Blood pressure regulation QTL] [Blood pressure regulation QTL] Bloom syndrome [Bone mineral density QTL 12] [Bone mineral density variability 1] Boomerang dysplasia Borjeson-Forssman-Lehmann syndrome Bothnia retinal dystrophy Bowen-Conradi syndrome Brachiootic syndrome 3 Brachydactyly-syndactyly syndrome Brachydactyly, type A1 Brachydactyly, type A2 Brachydactyly, type A2 Brachydactyly, type A2 Brachydactyly, type B1 Brachydactyly, type B2 Brachydactyly, type C Brachydactyly, type D Brachydactyly, type E Brachydactyly, type E2 Brachydacytly-mental retardation syndrome Brachyolmia type 3 Bradyopsia Bradyopsia Brain small vessel disease with Axenfeld-Rieger anomaly Brain small vessel disease with hemorrhage Branchiooculofacial syndrome Branchiootic syndrome 1 Branchiootorenal syndrome 1, with or without cataracts Breast cancer Breast cancer, early-onset {Breast cancer, invasive ductal} {Breast cancer, lobular} {Breast cancer, male, susceptibility to} {Breast cancer, protection against} Breast cancer, somatic Breast cancer, somatic Breast cancer, somatic Breast cancer, somatic Breast cancer, somatic {?Breast cancer susceptibility} {Breast cancer, susceptibility to} {Breast cancer, susceptibility to} {Breast cancer, susceptibility to} {Breast cancer, susceptibility to} {Breast cancer, susceptibility to} {Breast cancer, susceptibility to} {Breast cancer, susceptibility to} {Breast cancer, susceptibility to} {Breast-ovarian cancer, familial, 1} {Breast-ovarian cancer, familial, 2} {Breast-ovarian cancer, familial, susceptibility to, 3} Bronchiectasis with or without elevated sweat chloride 1 Bronchiectasis with or without elevated sweat chloride 2 Bronchiectasis with or without elevated sweat chloride 3 Brooke-Spiegler syndrome Brown-Vialetto-Van Laere syndrome 1 Bruck syndrome 2 Brugada syndrome 1 Brugada syndrome 2 Brugada syndrome 3 Brugada syndrome 4 Brugada syndrome 6 Brugada syndrome 7 Brugada syndrome 8 {Budd-Chiari syndrome} {Bulimia nervosa, age of onset of weight loss in} Burkitt lymphoma {Buruli ulcer, susceptibility to} Buschke-Ollendorff syndrome C1q deficiency C1q deficiency C1q deficiency C1r/C1s deficiency, combined C1s deficiency C3 deficiency C5 deficiency C6 deficiency C7 deficiency C8 deficiency, type I C8 deficiency, type II Calcification of joints and arteries Campomelic dysplasia Campomelic dysplasia with autosomal sex reversal Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Canavan disease Candidiasis, familial, 2, autosomal recessive Candidiasis, familial, 5, autosomal recessive Candidiasis, familial, 6, autosomal dominant Candidiasis, familial, 7 Capillary malformation-arteriovenous malformation Carbamoylphosphate synthetase I deficiency Carboxypeptidase N deficiency Carcinoid tumors, intestinal Cardiac arrhythmia, ankyrin-B-related {Cardiac conduction defect, susceptibility to} Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome ?Cardiomyopathy, dilated Cardiomyopathy, dilated, 1AA Cardiomyopathy, dilated, 1BB Cardiomyopathy, dilated, 1D Cardiomyopathy, dilated, 1DD Cardiomyopathy, dilated, 1E Cardiomyopathy, dilated, 1GG Cardiomyopathy, dilated, 1HH Cardiomyopathy, dilated, 1J Cardiomyopathy, dilated, 1L Cardiomyopathy, dilated, 1M Cardiomyopathy, dilated, 1R Cardiomyopathy, dilated, 1S Cardiomyopathy, dilated, 1T Cardiomyopathy, dilated, 1U Cardiomyopathy, dilated, 1V Cardiomyopathy, dilated, 1W Cardiomyopathy, dilated, 1X Cardiomyopathy, dilated, 1Z Cardiomyopathy, dilated, 3B Cardiomyopathy, familial hypertrophic Cardiomyopathy, familial hypertrophic Cardiomyopathy, familial hypertrophic, 1 Cardiomyopathy, familial hypertrophic, 10 Cardiomyopathy, familial hypertrophic, 11 Cardiomyopathy, familial hypertrophic, 12 Cardiomyopathy, familial hypertrophic, 13 Cardiomyopathy, familial hypertrophic, 15 Cardiomyopathy, familial hypertrophic, 16 Cardiomyopathy, familial hypertrophic 17 Cardiomyopathy, familial hypertrophic, 2 Cardiomyopathy, familial hypertrophic, 4 Cardiomyopathy, familial hypertrophic 6 Cardiomyopathy, familial hypertrophic, 8 Cardiomyopathy, familial restrictive, 3 Cardiomyopathy, hypertrophic, midventricular, digenic Carney complex, type 1 Carnitine deficiency, systemic primary Carotid intimal medial thickness 1 Carpal tunnel syndrome, familial Carpenter syndrome Cataract, autosomal dominant, multiple types 1 Cataract, autosomal recessive congenital 4 Cataract, cerulean, type 2 Cataract, congenital nuclear, 2 Cataract, congenital nuclear, autosomal recessive 3 Cataract, congenital, X-linked Cataract, congenital zonular, with sutural opacities Cataract, Coppock-like Cataract, cortical, juvenile-onset Cataract, juvenile, with microcornea and glucosuria Cataract, lamellar Cataract, lamellar 2 Cataract, Marner type Cataract-microcornea syndrome Cataract, posterior polar 2 Cataract, posterior polar, 3 Cataract, pulverulent or cerulean, with or without microcornea Cataract, sutural, with punctate and cerulean opacities Cataract with late-onset corneal dystrophy Cataract, zonular pulverulent-1 Cataract, zonular pulverulent-3 CATSHL syndrome Caudal duplication anomaly Caudal regression syndrome Cavernous malformations of CNS and retina {Celiac disease, susceptibility to, 3} {Celiac disease, susceptibility to, 4} Cenani-Lenz syndactyly syndrome Central hypoventilation syndrome Central hypoventilation syndrome, congenital Central hypoventilation syndrome, congenital Central hypoventilation syndrome, congenital, with or without Hirschsprung disease {Centronuclear myopathy, autosomal, modifier of} Cerebellar ataxia Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Cerebral amyloid angiopathy Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants Cerebral cavernous malformations-1 Cerebral cavernous malformations-2 Cerebral cavernous malformations 3 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome {Cerebral infarction, susceptibility to} Cerebral palsy, spastic quadriplegic, 1 Cerebral palsy, spastic quadriplegic, 2 Cerebrooculofacioskeletal syndrome 1 Cerebrotendinous xanthomatosis Ceroid lipofuscinosis, neuronal, 1 Ceroid lipofuscinosis, neuronal, 10 Ceroid lipofuscinosis, neuronal, 2 Ceroid lipofuscinosis, neuronal, 5 Ceroid lipofuscinosis, neuronal, 6 Ceroid lipofuscinosis, neuronal, 7 Ceroid lipofuscinosis, neuronal, 8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant Ceroid lipofuscinosis, neuronal, Kufs type, adult onset Cervical cancer, somatic Chanarin-Dorfman syndrome Charcot-Marie-Tooth disease, axonal, type 2F Charcot-Marie-Tooth disease, axonal, type 2K Charcot-Marie-Tooth disease, axonal, type 2L Charcot-Marie-Tooth disease, axonal, type 2N Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Charcot-Marie-Tooth disease, dominant intermediate C Charcot-Marie-Tooth disease, dominant intermediate E Charcot-Marie-Tooth disease, foot deformity of Charcot-Marie-Tooth disease, recessive intermediate, A Charcot-Marie-Tooth disease, recessive intermediate, B Charcot-Marie-Tooth disease, type 1A Charcot-Marie-Tooth disease, type 1C Charcot-Marie-Tooth disease, type 1E Charcot-Marie-Tooth disease, type 1F Charcot-Marie-Tooth disease, type 2A1 Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, type 2B Charcot-Marie-Tooth disease, type 2D Charcot-Marie-Tooth disease, type 2E Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth disease, type 4B1 Charcot-Marie-Tooth disease, type 4B2 Charcot-Marie-Tooth disease, type 4C Charcot-Marie-Tooth disease, type 4D Charcot-Marie-Tooth disease, type 4H Charcot-Marie-Tooth disease, type 4J Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 CHARGE syndrome CHARGE syndrome Char syndrome Chediak-Higashi syndrome Cherubism Chilblain lupus 2 CHILD syndrome Chloride diarrhea, congenital, Finnish type Choanal atresia and lymphedema Cholesteryl ester storage disease Chondrocalcinosis 2 Chondrodysplasia, Blomstrand type Chondrodysplasia, Grebe type Chondrodysplasia punctata, rhizomelic, type 2 Chondrodysplasia with joint dislocations, GRAPP type Chondrosarcoma Chondrosarcoma, extraskeletal myxoid Chondrosarcoma, extraskeletal myxoid Chondrosarcoma, extraskeletal myxoid Chorea, hereditary benign Choreoathetosis, hypothyroidism, and neonatal respiratory distress Choriodal dystrophy, central areolar 2 Chromosome 5q14.3 deletion syndrome Chrondrodysplasia, acromesomelic, with genital anomalies Chronic granulomatous disease due to deficiency of NCF-1 Chronic granulomatous disease due to deficiency of NCF-2 Chronic granulomatous disease, X-linked {Chronic infections, due to MBL deficiency} Chudley-McCullough syndrome Chylomicron retention disease Ciliary dyskinesia, primary, 10 Ciliary dyskinesia, primary, 11 Ciliary dyskinesia, primary, 12 Ciliary dyskinesia, primary, 13 Ciliary dyskinesia, primary, 15 Ciliary dyskinesia, primary, 3, with or without situs inversus Ciliary dyskinesia, primary, 6 Ciliary dyskinesia, primary, 9, with or without situs inversus CINCA syndrome {Cirrhosis, noncryptogenic, susceptibility to} Cirrhosis, North American Indian childhood type Citrullinemia Citrullinemia, adult-onset type II Citrullinemia, type II, neonatal-onset CK syndrome Cleft palate and mental retardation Cleft palate, isolated Cleft palate with ankyloglossia Cleidocranial dysplasia CLOVE syndrome, somatic Clubfoot, congenital COACH syndrome COACH syndrome COACH syndrome Cockayne syndrome, type A Cockayne syndrome, type B Cocoon syndrome Coenzyme Q10 deficiency, primary, 1 Coenzyme Q10 deficiency, primary, 2 Coenzyme Q10 deficiency, primary, 3 Coenzyme Q10 deficiency, primary, 4 Coenzyme Q10 deficiency, primary, 5 Coffin-Lowry syndrome Cognitive impairment with or without cerebellar ataxia Cohen syndrome {Colchicine resistance} Cold-induced autoinflammatory syndrome, familial Coloboma, ocular Coloboma of optic nerve Colon cancer, somatic Colon cancer, somatic {Colon cancer, susceptibility to} {Colonic adenoma recurrence, reduced risk of} Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas {Colorectal cancer} Colorectal cancer Colorectal cancer Colorectal cancer Colorectal cancer Colorectal cancer Colorectal cancer, hereditary nonpolyposis, type 1 Colorectal cancer, hereditary nonpolyposis, type 2 Colorectal cancer, hereditary nonpolyposis, type 5 Colorectal cancer, hereditary nonpolyposis, type 6 Colorectal cancer, hereditary nonpolyposis, type 8 Colorectal cancer, somatic Colorectal cancer, somatic Colorectal cancer, somatic Colorectal cancer, somatic Colorectal cancer, somatic {Colorectal cancer, susceptibility to} {Colorectal cancer, susceptibility to} {Colorectal cancer, susceptibility to} {Colorectal cancer, susceptibility to, 1} {Colorectal cancer, susceptibility to, 3} Combined cellular and humoral immune defects with granulomas Combined cellular and humoral immune defects with granulomas Combined factor V and VIII deficiency Combined hyperlipidemia, familial Combined immunodeficiency, X-linked, moderate Combined oxidative phosphorylation deficiency 1 Combined oxidative phosphorylation deficiency 2 Combined oxidative phosphorylation deficiency 5 Combined oxidative phosphorylation deficiency 6 Combined SAP deficiency Complement factor H deficiency Complement factor I deficiency Complex I, mitochondrial respiratory chain, deficiency of Cone dystrophy-3 Cone dystrophy 4 Cone-rod dystrophy Cone-rod dystrophy-1 Cone-rod dystrophy 12 Cone-rod dystrophy 14 Cone-rod dystrophy 15 Cone-rod dystrophy 3 Cone-rod dystrophy 5 Cone-rod dystrophy 7 Cone-rod dystrophy 9 Congenital cataracts, hearing loss, and neurodegeneration Congenital disorder of glycosylation, type Ia Congenital disorder of glycosylation, type Ib Congenital disorder of glycosylation, type Ic Congenital disorder of glycosylation, type Id Congenital disorder of glycosylation, type Ie Congenital disorder of glycosylation, type Ig Congenital disorder of glycosylation, type Ih Congenital disorder of glycosylation, type IIc Congenital disorder of glycosylation, type IId Congenital disorder of glycosylation, type IIe Congenital disorder of glycosylation, type IIf Congenital disorder of glycosylation, type IIg Congenital disorder of glycosylation, type IIh Congenital disorder of glycosylation, type IIi Congenital disorder of glycosylation, type IIj Congenital disorder of glycosylation, type Ij Congenital disorder of glycosylation, type Ik Congenital disorder of glycosylation, type Il Congenital disorder of glycosylation, type Im Congenital disorder of glycosylation, type In Congenital disorder of glycosylation, type Ip Congenital disorder of glycosylation, type Iq Congenital heart disease, nonsyndromic, 2 Congenital myopathy with excess of muscle spindles Conjunctivitis, ligneous Conotruncal heart malformations, variable Contractural arachnodactyly, congenital COPD, rate of decline of lung function in Coproporphyria Corneal dystrophy, Avellino type Corneal dystrophy, congenital stromal Corneal dystrophy, crystalline, of Schnyder Corneal dystrophy, epithelial basement membrane Corneal dystrophy, Fuchs endothelial, 1 Corneal dystrophy, Fuchs endothelial, 4 Corneal dystrophy, Fuchs endothelial, 6 Corneal dystrophy, gelatinous drop-like Corneal dystrophy, Groenouw type I Corneal dystrophy, hereditary polymorphous posterior Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy polymorphous posterior, 2 Corneal dystrophy, posterior polymorphous, 3 Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal endothelial dystrophy 2, autosomal recessive Corneal endothelial dystrophy and perceptive deafness Corneal fleck dystrophy Cornea plana congenita, recessive Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 3 {Coronary artery disease, autosomal dominant, 1} {Coronary artery disease, autosomal dominant, 2} {Coronary artery disease in familial hypercholesterolemia, protection against} {Coronary artery disease, resistance to} {Coronary heart disease, susceptibility to, 6} {Coronary heart disease, susceptibility to, 7} Cortical dysplasia, complex, with other brain malformations Cortical malformations, occipital Cortisone reductase deficiency 1 Cortisone reductase deficiency 2 Costello syndrome Cousin syndrome Cowden disease Cowden-like syndrome Cowden-like syndrome CPT deficiency, hepatic, type IA CPT deficiency, hepatic, type II CPT II deficiency, lethal neonatal Craniodiaphyseal dysplasia, autosomal dominant Cranioectodermal dysplasia 1 Cranioectodermal dysplasia 2 Craniofacial anomalies and anterior segment dysgenesis syndrome Craniofacial-deafness-hand syndrome Craniofrontonasal dysplasia Craniolenticulosutural dysplasia Craniometaphyseal dysplasia Cranioosteoarthropathy Craniosynostosis, type 2 Creatine phosphokinase, elevated serum Creutzfeldt-Jakob disease Crigler-Najjar syndrome, type I Crigler-Najjar syndrome, type II {Crohn disease-associated growth failure} Crouzon syndrome Crouzon syndrome with acanthosis nigricans Currarino syndrome Cutis laxa, autosomal dominant 2 Cutis laxa, autosomal recessive, type IA Cutis laxa, autosomal recessive, type IIA Cylindromatosis, familial Cystathioninuria Cystinosis, late-onset juvenile or adolescent nephropathic Cystinosis, nephropathic Cystinosis, ocular nonnephropathic Cystinuria Cystinuria Czech dysplasia D-2-hydroxyglutaric aciduria Danon disease Darier disease D-bifunctional protein deficiency Deafness, autosomal dominant 1 Deafness, autosomal dominant 10 Deafness, autosomal dominant 11 Deafness, autosomal dominant 15 Deafness, autosomal dominant 17 Deafness, autosomal dominant 20/26 Deafness, autosomal dominant 22 Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Deafness, autosomal dominant 23 Deafness, autosomal dominant 25 Deafness, autosomal dominant 36 Deafness, autosomal dominant 3B Deafness, autosomal dominant 5 Deafness, autosomal dominant 6/14/38 Deafness, autosomal dominant 8/12 Deafness, autosomal dominant 9 Deafness, autosomal recessive 10, congenital Deafness, autosomal recessive 12 {Deafness, autosomal recessive 12, modifier of} Deafness, autosomal recessive 18 Deafness, autosomal recessive 1B Deafness, autosomal recessive 2 Deafness, autosomal recessive 21 Deafness, autosomal recessive 22 Deafness, autosomal recessive 23 Deafness, autosomal recessive 24 Deafness, autosomal recessive 25 Deafness, autosomal recessive 29 Deafness, autosomal recessive 3 Deafness, autosomal recessive 30 Deafness, autosomal recessive 35 Deafness, autosomal recessive 36 Deafness, autosomal recessive 37 Deafness, autosomal recessive 39 Deafness, autosomal recessive 42 Deafness, autosomal recessive 49 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct Deafness, autosomal recessive 59 Deafness, autosomal recessive 6 Deafness, autosomal recessive 61 Deafness, autosomal recessive 67 Deafness, autosomal recessive 7 Deafness, autosomal recessive 74 Deafness, autosomal recessive 77 Deafness, autosomal recessive 79 Deafness, autosomal recessive 8, childhood onset Deafness, autosomal recessive 9 Deafness, autosomal recessive 91 Deafness, congenital with inner ear agenesis, microtia, and microdontia Deafness, digenic GJB2/GJB6 {Deafness, mitochondrial, modifier of} Deafness, X-linked 1 Deafness, X-linked 4 {Deep venous thrombosis, protection against} Dejerine-Sottas disease De la Chapelle dysplasia {Delayed sleep phase syndrome, susceptibility to} Dementia, familial British Dementia, familial Danish Dementia, familial, nonspecific Dementia, frontotemporal Dementia, Lewy body Dementia, Lewy body Dentatorubro-pallidoluysian atrophy Dent disease Dent disease 2 Denys-Drash syndrome De Sanctis-Cacchione syndrome Desmoid disease, hereditary Desmosterolosis D-glyceric aciduria Diabetes insipidus, neurohypophyseal {Diabetes mellitus, insulin-dependent} Diabetes mellitus, insulin-dependent, 2 Diabetes mellitus, insulin-dependent, 20 {Diabetes mellitus, insulin-dependent, 22} {Diabetes mellitus, insulin-dependent, susceptibility to} Diabetes mellitus, insulin-resistant, with acanthosis nigricans {Diabetes mellitus, noninsulin-dependent} {Diabetes mellitus, noninsulin-dependent} {Diabetes mellitus, noninsulin-dependent} {Diabetes mellitus, noninsulin-dependent} {Diabetes mellitus, noninsulin-dependent} {Diabetes mellitus, noninsulin-dependent} Diabetes mellitus, noninsulin-dependent {Diabetes mellitus, noninsulin-dependent 1} {Diabetes mellitus, noninsulin-dependent, 2} {Diabetes mellitus, noninsulin-dependent, association with} {Diabetes mellitus, non-insulin-dependent, susceptibility to} {Diabetes mellitus, noninsulin-dependent, susceptibility to} {Diabetes mellitus, noninsulin-dependent, susceptibility to} Diabetes mellitus, permanent neonatal Diabetes mellitus, permanent neonatal {Diabetes mellitus, transient neonatal} Diabetes mellitus, transient neonatal 2 Diabetes mellitus, type 1 {Diabetes mellitus, type 2, susceptibility to} {Diabetes mellitus, type II, susceptibility to} {Diabetes, susceptibility to}, {Diabetes, type 1, susceptibility to} {Diabetes, type 1, susceptibility to} {Diabetes, type 2} {Diabetes, type 2, susceptibility to} Diamond-Blackfan anemia 5 Diamond-Blackfan anemia 6 Diamond-Blackfan anemia 7 Diamond-Blackfan anemia 8 Diamond-Blackfan anemia 9 Diaphanospondylodysostosis Diaphragmatic hernia 3 Diarrhea 5, with tufting enteropathy, congenital Diastrophic dysplasia Diastrophic dysplasia, broad bone-platyspondylic variant Digital arthropathy-brachydactyly, familial Digital clubbing, isolated congenital Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilated cardiomyopathy with woolly hair and keratoderma Disordered steroidogenesis due to cytochrome P450 oxidoreductase Donnai-Barrow syndrome Dopamine beta-hydroxylase deficiency Dowling-Degos disease Doyne honeycomb degeneration of retina Dravet syndrome Dravet syndrome Dravet syndrome Duane-radial ray syndrome Duane retraction syndrome 2 Dubin-Johnson syndrome Duchenne muscular dystrophy Dyggve-Melchior-Clausen disease [Dysalbuminemic hyperzincemia] Dysautonomia, familial Dyschromatosis symmetrica hereditaria Dyskeratosis congenita, autosomal dominant 2 Dyskeratosis congenita, autosomal recessive 4 Dyskeratosis congenita, X-linked {Dyslexia, susceptibility to, 1} {Dyslexia, susceptibility to, 2} Dysprothrombinemia Dyssegmental dysplasia, Silverman-Handmaker type Dystonia-11, myoclonic Dystonia-1, torsion Dystonia 6, torsion Dystonia, dopa-responsive, due to sepiapterin reductase deficiency Dystonia, DOPA-responsive, with or without hyperphenylalainemia Dystonia, juvenile-onset Dystonia, myoclonic [Dystransthyretinemic hyperthyroxinemia] Ectodermal dysplasia, anhidrotic, autosomal dominant Ectodermal dysplasia, anhidrotic, autosomal recessive Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency Ectodermal dysplasia, hidrotic Ectodermal dysplasia, hypohidrotic, autosomal dominant Ectodermal dysplasia, hypohidrotic, autosomal recessive Ectodermal dysplasia/skin fragility syndrome Ectopia lentis, familial Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Ehlers-Danlos syndrome, cardiac valvular form Ehlers-Danlos syndrome, progeroid form Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II Ehlers-Danlos syndrome, type III Ehlers-Danlos syndrome, type IV Ehlers-Danlos syndrome, type VI Ehlers-Danlos syndrome, type VIIB Ehlers-Danlos syndrome, type VIIC Eiken syndrome Elliptocytosis-1 Ellis-van Creveld syndrome Ellis-van Creveld syndrome Emery-Dreifuss muscular dystrophy 4, autosomal dominant Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission {Encephalopathy, acute, infection-induced, 3, susceptibility to} {Encephalopathy, acute, infection-induced, 4, susceptibility to} Encephalopathy, familial, with neuroserpin inclusion bodies Endocrine-cerebroosteodysplasia Endometrial cancer, familial Endometrial carcinoma, somatic Endometrial carcinoma, somatic Endometrial stromal tumors Endometrial stromal tumors Endplate acetylcholinesterase deficiency Enhanced S-cone syndrome Enlarged vestibular aqueduct Enterokinase deficiency Epidermodysplasia verruciformis {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of} Epidermolysis bullosa, generalized atrophic benign Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa, junctional, with pyloric stenosis Epidermolysis bullosa, lethal acantholytic Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolysis bullosa simplex with migratory circinate erythema Epidermolysis bullosa simplex with mottled pigmentation Epidermolytic hyperkeratosis {Epilepsy, childhood absence, susceptibility to, 2} {Epilepsy, childhood absence, susceptibility to, 4} {Epilepsy, childhood absence, susceptibility to, 5} {Epilepsy, childhood absence, susceptibility to, 6} Epilepsy, familial temporal lobe, 1 Epilepsy, generalized, with febrile seizures plus, type 2 Epilepsy, generalized, with febrile seizures plus, type 3 Epilepsy, generalized, with febrile seizures plus, type 7 {Epilepsy, idiopathic generalized, 10} {Epilepsy, idiopathic generalized, susceptibility to, 6} {Epilepsy, idiopathic generalized, susceptibility to, 8} {Epilepsy, idiopathic generalized, susceptibility to, 9} {Epilepsy, juvenile absence, susceptibility to, 1} {Epilepsy, juvenile myoclonic, susceptibility to} {Epilepsy, juvenile myoclonic, susceptibility to, 5} {Epilepsy, juvenile myoclonic, susceptibility to, 6} Epilepsy, nocturnal frontal lobe, 1 Epilepsy, nocturnal frontal lobe, type 4 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) Epilepsy, progressive myoclonic 1B Epilepsy, progressive myoclonic 2A (Lafora) Epilepsy, progressive myoclonic 2B (Lafora) Epilepsy, progressive myoclonic 3, with or without intracellular inclusions Epilepsy, progressive myoclonic 4, with or without renal failure Epilepsy, progressive myoclonic 5 Epilepsy, progressive myoclonic 6 Epilepsy, pyridoxine-dependent Epilepsy with neurodevelopmental defects Epileptic encephalopathy, early infantile, 11 Epileptic encephalopathy, early infantile, 12 Epileptic encephalopathy, early infantile, 13 Epileptic encephalopathy, early infantile, 2 Epileptic encephalopathy, early infantile, 3 Epileptic encephalopathy, early infantile, 4 Epileptic encephalopathy, early infantile, 5 Epileptic encephalopathy, early infantile, 7 Epileptic encephalopathy, early infantile, 8 Epileptic encephalopathy, early infantile, 9 Epileptic encephalopathy, Lennox-Gastaut type Epiphyseal dysplasia, multiple 1 Epiphyseal dysplasia, multiple, 3 Epiphyseal dysplasia, multiple, 4 Epiphyseal dysplasia, multiple, 5 Epiphyseal dysplasia, multiple, 6 Epiphyseal dysplasia, multiple, with myopia and deafness Episodic ataxia/myokymia syndrome Episodic ataxia, type 5 Episodic ataxia, type 6 Epstein syndrome Erythermalgia, primary Erythrocyte lactate transporter defect Erythrocytosis due to bisphosphoglycerate mutase deficiency Erythrocytosis, familial, 2 Erythrocytosis, familial, 4 Escobar syndrome Esophageal cancer, somatic Esophageal carcinoma, somatic Esophageal squamous cell carcinoma Esophageal squamous cell carcinoma {Essential tremor, susceptibility to} Ethylmalonic encephalopathy Ewing sarcoma Exostoses, multiple, type 1 Exostoses, multiple, type 2 Exudative vitreoretinopathy Exudative vitreoretinopathy 4 Exudative vitreoretinopathy 5 Exudative vitreoretinopathy, X-linked Fabry disease Fabry disease, cardiac variant Factor V and factor VIII, combined deficiency of Factor VII deficiency Factor X deficiency Factor XI deficiency, autosomal dominant Factor XI deficiency, autosomal recessive Factor XIIIA deficiency Factor XIIIB deficiency Failure of tooth eruption, primary Fanconi anemia, complementation group 0 Fanconi anemia, complementation group A Fanconi anemia, complementation group B Fanconi anemia, complementation group C Fanconi anemia, complementation group D1 Fanconi anemia, complementation group D2 Fanconi anemia, complementation group E Fanconi anemia, complementation group F Fanconi anemia, complementation group G Fanconi anemia, complementation group I Fanconi anemia, complementation group J Fanconi anemia, complementation group L Fanconi anemia, complementation group N Fanconi anemia, complementation group P Fanconi-Bickel syndrome Fanconi renotubular syndrome 2 Farber lipogranulomatosis Fatty liver, acute, of pregnancy Fazio-Londe disease Febrile seizures, familial, 3A Febrile seizures, familial, 3B Febrile seizures, familial, 8 Fechtner syndrome Feingold syndrome Fetal akinesia deformation sequence Fetal akinesia deformation sequence FG syndrome 4 Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibromatosis, juvenile hyaline Fibrosis of extraocular muscles, congenital, 1 Fibrosis of extraocular muscles, congenital, 3A Fibrosis of extraocular muscles, congenital, 3B Fibular hypoplasia and complex brachydactyly Focal cortical dysplasia, Taylor balloon cell type Folate malabsorption, hereditary Follicle-stimulating hormone deficiency, isolated Foveal hyperplasia Foveomacular dystrophy, adult-onset, with choroidal neovascularization Fragile X syndrome Fragile X tremor/ataxia syndrome Frank-ter Haar syndrome Fraser syndrome Fraser syndrome Frasier syndrome Friedreich ataxia Friedreich ataxia with retained reflexes Frontonasal dysplasia 2 Frontonasal dysplasia 3 Frontotemporal lobar degeneration, TARDBP-related Fructose-1,6-bidphosphatase deficiency Fructose intolerance Fucosidosis Fuhrmann syndrome Fumarase deficiency Fundus albipunctatus Fundus flavimaculatus GABA-transaminase deficiency Galactokinase deficiency with cataracts Galactose epimerase deficiency Galactosialidosis Gallbladder disease 4 Gastric cancer, familial diffuse, with or without cleft lip and/or palate {Gastric cancer risk after H. pylori infection} Gastric cancer, somatic Gastric cancer, somatic Gastric cancer, somatic Gastric cancer, somatic Gastric cancer, somatic Gastric cancer, somatic Gastric cancer, somatic Gastric cancer, somatic Gastric cancer, somatic Gastrointestinal stromal tumor Gastrointestinal stromal tumor, familial Gastrointestinal stromal tumor, somatic Gaucher disease, atypical Geleophysic dysplasia 1 Geleophysic dysplasia 2 Generalized epilepsy and paroxysmal dyskinesia {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to} Germ cell tumors Geroderma osteodysplasticum Gerstmann-Straussler disease Ghosal hematodiaphyseal syndrome Giant axonal neuropathy-1 Giant platelet disorder, isolated [Gilbert syndrome] Gillespie syndrome Gitelman syndrome Glanzmann thrombasthenia Glaucoma 1A, primary open angle, juvenile-onset Glaucoma 1, open angle, E Glaucoma 1, open angle, G Glaucoma 3A, primary congenital Glaucoma 3, primary congenital, D {Glaucoma, normal tension, susceptibility to} {Glaucoma, normal tension, susceptibility to} Glaucoma, primary open angle, adult-onset Glaucoma, primary open angle, juvenile-onset {Glioblastoma 3} Glioblastoma, somatic {Glioblastoma, susceptibility to} {Glioma susceptibility 2} Glomerulopathy with fibronectin deposits 2 Glomerulosclerosis, focal segmental, 2 Glomerulosclerosis, focal segmental, 5 Glomerulosclerosis, focal segmental, 6 Glomuvenous malformations Glucocorticoid deficiency, due to ACTH unresponsiveness Glucose/galactose malabsorption GLUT1 deficiency syndrome 1 GLUT1 deficiency syndrome 2 Glutamate formiminotransferase deficiency Glutamine deficiency, congenital Glutaric acidemia IIA Glutaric acidemia IIC Glutathione synthetase deficiency Glycerol kinase deficiency Glycine encephalopathy Glycine encephalopathy Glycine N-methyltransferase deficiency Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease II Glycogen storage disease IIIa Glycogen storage disease IIIb Glycogen storage disease IV Glycogen storage disease of heart, lethal congenital Glycogen storage disease, type 0 Glycogen storage disease, type IXa1 Glycogen storage disease, type IXa2 Glycogen storage disease VI Glycogen storage disease VII Glycogen storage disease XI Glycogen storage disease XIV Glycogen storage disease XV Glycosylphosphatidylinositol deficiency [Glyoxalase II deficiency] GM1-gangliosidosis, type I GM1-gangliosidosis, type II GM1-gangliosidosis, type III GM2-gangliosidosis, several forms Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Goldberg-Shprintzen megacolon syndrome GRACILE syndrome {Graft-versus-host disease, protection against} Greig cephalopolysyndactyly syndrome Griscelli syndrome, type 1 Griscelli syndrome, type 2 Griscelli syndrome, type 3 Growth hormone deficiency, isolated, type IB Growth hormone deficiency with pituitary anomalies Growth hormone insensitivity with immunodeficiency Growth retardation with deafness and mental retardation due to IGF1 deficiency Guttmacher syndrome Gyrate atrophy of choroid and retina with or without ornithinemia Hailey-Hailey disease Haim-Munk syndrome [Hair morphology 1, hair thickness] Hajdu-Cheney syndrome Hallermann-Streiff syndrome Hand-foot-uterus syndrome {Hangover, susceptibility to} Harderoporphyria Hartnup disorder Hawkinsinuria Hay-Wells syndrome HDL deficiency, type 2 Heart block, nonprogressive Heart block, progressive, type IA HELLP syndrome, maternal, of pregnancy Hemangioma, capillary infantile, somatic Hemangioma, capillary infantile, somatic {Hemangioma, capillary infantile, susceptibility to} {Hemangioma, capillary infantile, susceptibility to} Hematuria, benign familial Heme oxygenase-1 deficiency Hemochromatosis, type 4 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Hemolytic anemia due to glutathione synthetase deficiency Hemolytic anemia due to hexokinase deficiency Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency {Hemolytic uremic syndrome, atypical, susceptibility to, 1} {Hemolytic uremic syndrome, atypical, susceptibility to, 3} {Hemolytic uremic syndrome, atypical, susceptibility to, 5} {Hemolytic uremic syndrome, atypical, susceptibility to, 6} Hemophagocytic lymphohistiocytosis, familial, 2 Hemophagocytic lymphohistiocytosis, familial, 3 Hemophagocytic lymphohistiocytosis, familial, 4 Hemophilia A Hemophilia B Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Hemosiderosis, systemic, due to aceruloplasminemia HEM skeletal dysplasia Hennekam lymphangiectasia-lymphedema syndrome Hepatic adenoma, somatic Hepatic lipase deficiency {Hepatitic C virus, susceptibility to} {Hepatitis B virus infection, susceptibility to} {Hepatitis B virus, susceptibility to} {Hepatitis B virus, susceptibility to} {Hepatitis C virus infection, response to therapy of} {Hepatitis C virus, resistance to} Hepatoblastoma, somatic Hepatocellular cancer Hepatocellular carcinoma Hepatocellular carcinoma, childhood type Hepatocellular carcinoma, somatic Hepatocellular carcinoma, somatic Hepatocellular carcinoma, somatic Hereditary motor and sensory neuropathy, type IIc Hereditary motor and sensory neuropathy VI Hermansky-Pudlak syndrome 1 Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome 6 Hermansky-Pudlak syndrome 7 Herpes simplex encephalitis, susceptibility to, 1 Herpes simplex encephalitis, susceptibility to, 2 Heterotaxy, visceral, 4, autosomal [Hex A pseudodeficiency] {HFE hemochromatosis, modifier of} [High density lipoprotein cholesterol level QTL 10] [High density lipoprotein cholesterol level QTL 12] [High density lipoprotien cholesterol level QTL6] [High molecular weight kininogen deficiency] {Hirschsprung disease, susceptibility to, 1} {Hirschsprung disease, susceptibility to, 2} {Hirschsprung disease, susceptibility to, 3} [Histidinemia] Histiocytoma, angiomatoid fibrous, somatic Histiocytosis-lymphadenopathy plus syndrome {HIV-1, susceptibility to} HMG-CoA lyase deficiency HMG-CoA synthase-2 deficiency Hodgkin lymphoma Holocarboxylase synthetase deficiency Holoprosencephaly-3 Holoprosencephaly-4 Holoprosencephaly-7 Holoprosencephaly-9 Holt-Oram syndrome Homocystinuria, B6-responsive and nonresponsive types Homocystinuria, cblD type, variant 1 Homocystinuria due to MTHFR deficiency Homocystinuria-megaloblastic anemia, cbl E type Hoyeraal-Hreidarsson syndrome HPRT-related gout {H. pylori infection, susceptibility to} {H. pylori infection, susceptibility to} Huntington disease Huntington disease-like 1 Huntington disease-like 2 Hyalinosis, infantile systemic Hydrolethalus syndrome Hyperaldosteronism, familial, type III Hyperalphalipoproteinemia Hyperbilirubinemia, familial transcient neonatal {Hypercalciuria, absorptive, susceptibility to} Hypercarotenemia and vitamin A deficiency, autosomal dominant Hyperchlorhidrosis, isolated Hypercholanemia, familial Hypercholanemia, familial Hypercholanemia, familial Hypercholesterolemia, due to ligand-defective apo B Hypercholesterolemia, familial, autosomal recessive {Hypercholesterolemia, familial, due to LDLR defect, modifier of} {Hypercholesterolemia, familial, modification of} {Hypercholesterolemia, susceptibility to} Hyperchylomicronemia, late-onset Hyperekplexia 2, autosomal recessive Hyperekplexia 3 Hyperekplexia, hereditary 1, autosomal dominant or recessive Hypereosinophilic syndrome, idiopathic, resistant to imatinib Hyperfibrinolysis, familial, due to increased release of PLAT Hyperglycinuria Hyperglycinuria Hyper-IgD syndrome Hyper-IgE recurrent infection syndrome Hyper-IgE recurrent infection syndrome, autosomal recessive Hyperinsulinemic hypoglycemia, familial, 1 Hyperinsulinemic hypoglycemia, familial, 4 Hyperinsulinemic hypoglycemia, familial, 5 Hyperinsulinemic hypoglycemia, familial, 7 Hyperinsulinism-hyperammonemia syndrome Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations {Hyperlipidemia, familial combined, susceptibility to} Hyperlysinemia Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome Hyperostosis, endosteal Hyperoxaluria, primary, type II Hyperoxaluria, primary, type III Hyperparathyroidism, familial primary Hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism, neonatal Hyperpehnylalaninemia, BH4-deficient, B Hyperphenylalaninemia, BH4-deficient, A Hyperphenylalaninemia, BH4-deficient, C Hyperphenylalaninemia, BH4-deficient, D [Hyperphenylalaninemia, non-PKU mild] Hyperpigmentation, familial progressive, 2 Hyperprolinemia, type II {Hypertension, diastolic, resistance to} Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy Hypertension, essential {Hypertension, essential, salt-sensitive} {Hypertension, essential, susceptibility to} {Hypertension, essential, susceptibility to} {Hypertension, susceptibility to} Hyperthyroidism, familial gestational Hyperthyroidism, nonautoimmune {Hypertriglyceridemia, susceptibility to} Hypertrophic osteoarthropathy, primary, autosomal recessive 1 Hypoalphalipoproteinemia Hypocalcemia, autosomal dominant Hypocalciuric hypercalcemia, type I [Hypoceruloplasminemia, hereditary] Hypochondroplasia Hypoglycemia of infancy, leucine-sensitive Hypogonadism, hypogonadotropic Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism Hypomagnesemia 3, renal Hypomagnesemia 4, renal Hypomagnesemia 6, renal Hypomyelination, global cerebral Hypoparathyroidism, autosomal dominant Hypoparathyroidism, autosomal recessive Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism, sensorineural deafness, and renal dysplasia Hypophosphatasia, adult Hypophosphatasia, childhood Hypophosphatasia, infantile Hypophosphatemic rickets Hypophosphatemic rickets, AR Hypophosphatemic rickets, autosomal recessive, 2 Hypophosphatemic rickets, X-linked dominant Hypoplastic left heart syndrome 1 Hypoplastic left heart syndrome 2 Hypoproteinemia, hypercatabolic Hypoprothrombinemia Hypospadias 1, X-linked {Hypothalamic hamartomas, somatic} Hypothryoidism, congenital, nongoitrous 4 {Hypothyroidism, autoimmune} Hypothyroidism, congenital, nongoitrous, 1 Hypothyroidism, congenital nongoitrous, 5 Hypotrichosis 8 Hypotrichosis, localized, autosomal recessive 2 Hypotrichosis-lymphedema-telangiectasia syndrome Hypouricemia, renal, 2 Ichthyosiform erythroderma, congenital, nonbullous, 1 Ichthyosis, congenital, autosomal recessive Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis, harlequin Ichthyosis, lamellar 2 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Ichthyosis prematurity syndrome Ichthyosis, spastic quadriplegia, and mental retardation Ichthyosis with confetti Ichthyosis with hypotrichosis Ichthyosis, X-linked IFAP syndrome with or without BRESHECK syndrome [IgE, elevated level of] [IgE levels QTL] Iminoglycinuria, digenic Iminoglycinuria, digenic Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 Immunodeficiency, common variable, 1 Immunodeficiency, common variable, 2 Immunodeficiency, common variable, 6 Immunodeficiency due to CASP8 deficiency Immunodeficiency due to defect in CD3-zeta Immunodeficiency with hyper-IgM, type 2 Immunodeficiency with hyper-IgM, type 3 Immunodeficiency with hyper IgM, type 5 Immunodeficiency, X-linked, with hyper-IgM Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia Immunoglobulin A deficiency 2 Inclusion body myopathy, autosomal recessive Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Infantile neuroaxonal dystrophy 1 Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malforamtions {Inflammatory bowel disease 10} {Inflammatory bowel disease 13} {Inflammatory bowel disease 14} {Inflammatory bowel disease 17, protection against} Inflammatory bowel disease 25, early onset, autosomal recessive Inflammatory bowel disease 28, early onset, autosomal recessive [Inosine triphosphatase deficiency] Insensitivity to pain, channelopathy-associated Insensitivity to pain, congenital, with anhidrosis Insomnia, fatal familial Insulin-like growth factor I, resistance to Insulin resistance, severe, digenic Insulin resistance, severe, digenic {Insulin resistance, susceptibility to} {Intervertebral disc disease, susceptibility to} {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} Invasive pneumococcal disease, recurrent isolated, 1 IRAK4 deficiency Iridogoniodysgenesis, type 2 Iron-refractory iron deficiency anemia Isobutyryl-CoA dehydrogenase deficiency Isovaleric acidemia IVIC syndrome Jackson-Weiss syndrome Jackson-Weiss syndrome Jawad syndrome Jensen syndrome Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome 2 Johanson-Blizzard syndrome Joubert syndrome 1 Joubert syndrome 10 Joubert syndrome 2 Joubert syndrome 4 Joubert syndrome 5 Joubert syndrome 6 Joubert syndrome 7 Joubert syndrome 8 Joubert syndrome 9 Juvenile polyposis syndrome, infantile form Kahrizi syndrome Kallmann syndrome Kallmann syndrome 2 Kallmann syndrome 3 Kallmann syndrome 4 Kallmann syndrome 5 Kallmann syndrome 6 Kanzaki disease {Kaposi sarcoma, susceptibility to} Karak syndrome Kenny-Caffey syndrome-1 Keratitis Keratoconus 1 Keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans, X-linked Keratosis linearis with ichthyosis congenita and sclerosing keratoderma Keratosis palmoplantaris striata I Keratosis palmoplantaris striata II Keratosis, seborrheic, somatic Keutel syndrome Kindler syndrome [Kininogen deficiency] Kleefstra syndrome Klippel-Feil syndrome 3, autosomal dominant Kniest dysplasia Knobloch syndrome, type 1 Krabbe disease Krabbe disease, atypical {Kuru, susceptibility to} L-2-hydroxyglutaric aciduria Lactase deficiency, congenital Lactase persistance/nonpersistance Lactate dehydrogenase-B deficiency Lacticacidemia due to PDX1 deficiency LADD syndrome LADD syndrome Laing distal myopathy Laron dwarfism Larsen syndrome Laryngoonychocutaneous syndrome LCHAD deficiency Leber congenital amaurosis 10 Leber congenital amaurosis 12 Leber congenital amaurosis 13 Leber congenital amaurosis 14 Leber congenital amaurosis 15 Leber congenital amaurosis 2 Leber congenital amaurosis 3 Leber congenital amaurosis 4 Leber congenital amaurosis 5 Left ventricular noncompaction 1, with or without congenital heart defects Left ventricular noncompaction 4 Left ventricular noncompaction 5 Left ventricular noncompaction 6 Legg-Calve-Perthes disease {Legionaire disease, susceptibility to} Legius syndrome Leigh syndrome Leigh syndrome Leigh syndrome Leigh syndrome Leigh syndrome Leigh syndrome Leigh syndrome Leigh syndrome, due to COX deficiency Leigh syndrome due to cytochrome c oxidase deficiency Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome, French-Canadian type Leigh syndrome, X-linked Leiomyomatosis and renal cell cancer Leiomyomatosis, diffuse, with Alport syndrome Leiomyoma, uterine, somatic LEOPARD syndrome 1 LEOPARD syndrome 2 LEOPARD syndrome 3 Leprechaunism {Leprosy, susceptibility to} {Leprosy, susceptibility to} Lesch-Nyhan syndrome Lethal congenital contractural syndrome 3 Lethal congenital contracture syndrome 1 Leukemia, acute lymphocytic Leukemia, acute myelogenous Leukemia, acute myelogenous {Leukemia, acute myeloid} Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid Leukemia, acute myeloid, somatic {Leukemia, acute myeloid, susceptibility to} Leukemia, acute nonlymphocytic Leukemia, acute pre-B-cell Leukemia, acute T-cell Leukemia, chronic myeloid Leukemia, juvenile myelomonocytic Leukemia, juvenile myelomonocytic Leukemia, juvenile myelomonocytic Leukemia, myeloid/lymphoid or mixed-lineage Leukemia, T-cell acute lymphoblastic Leukocyte adhesion deficiency Leukodystrophy, adult-onset, autosomal dominant Leukodystrophy, hypomyelinating, 2 Leukodystrophy, hypomyelinating, 3 Leukodystrophy, hypomyelinating, 4 Leukodystrophy, hypomyelinating, 5 Leukoencephalopathy, cystic, without megalencephaly Leukoencephalopathy, diffuse hereditary, with spheroids Leukoencephalopathy with dystonia and motor neuropathy Leukoencephalopathy with vanishing white matter Leukoencephalopathy with vanishing white matter Leukoencephalopathy with vanishing white matter Leukoencephaly with vanishing white matter Leydig cell adenoma, somatic, with precocious puberty Leydig cell hypoplasia with hypergonadotropic hypogonadism Leydig cell hypoplasia with pseudohermaphroditism Lhermitte-Duclos syndrome Liddle syndrome Liddle syndrome Li-Fraumeni syndrome LIG4 syndrome Limb-mammary syndrome Lipase deficiency, combined Lipodystrophy, congenital generalized, type 1 Lipodystrophy, congenital generalized, type 3 Lipodystrophy, congenital generalized, type 4 Lipodystrophy, familial partial, type 3 Lipodystrophy, familial partial, type 4 {Lipodystrophy, partial, acquired, susceptibility to} Lipoid adrenal hyperplasia Lipoprotein lipase deficiency Lissencephaly 1 Lissencephaly 2 (Norman-Roberts type) Lissencephaly 4 (with microcephaly) Lissencephaly, X-linked Liver failure, transient infantile Loeys-Dietz syndrome, type 1A Loeys-Dietz syndrome, type 1B Loeys-Dietz syndrome, type 1C Loeys-Dietz syndrome, type 2A Loeys-Dietz syndrome, type 2B Long QT syndrome-1 Long QT syndrome-10 Long QT syndrome-11 Long QT syndrome 13 {Long QT syndrome 1, acquired, susceptibility to} Long QT syndrome-3 Long QT syndrome-4 Long QT syndrome-5 Long QT syndrome-6 Long QT syndrome-7 Long QT syndrome-9 Lowe syndrome {Lumbar disc degeneration} {Lumbar disc disease, susceptibility to} {Lumbar disc herniation, susceptibility to} {Lumbar disc herniation, susceptibility to} Lung cancer {Lung cancer, protection against} Lung cancer, somatic Lung cancer, somatic Lung cancer, somatic {Lung cancer susceptibility 2} {Lung cancer susceptibility 2} {Lung cancer, susceptibility to} {Lung cancer, susceptibility to} Luteinizing hormone resistance, female Lymphangioleiomyomatosis Lymphedema-distichiasis syndrome Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus Lymphedema, hereditary I Lymphedema, hereditary, IC Lymphoma, B-cell Lymphoma, diffuse large B-cell {Lymphoma, follicular, somatic} Lymphoma, MALT, somatic Lymphoma, non-Hodgkin Lymphoma, non-Hodgkin, somatic Lymphoproliferative syndrome, EBV-associated, autosomal, 1 Lymphoproliferative syndrome, X-linked, 2 Lysinuric protein intolerance Machado-Joseph disease Macrocephaly, alopecia, cutis laxa, and scoliosis Macrocephaly/autism syndrome Macrocytic anemia, refractory, due to 5q deletion, somatic Macrothrombocytopenia and progressive sensorineural deafness Macrothrombocytopenia, autosomal dominant, TUBB1-related Macular corneal dystrophy {Macular degeneration, age-related, 10} Macular degeneration, age-related, 11 {Macular degeneration, age-related, 12} Macular degeneration, age-related, 2 Macular degeneration, age-related, 3 {Macular degeneration, age-related, 4} {Macular degeneration, age-related, 9} {Macular degeneration, age-related, susceptibility to 5} Macular degeneration, juvenile Macular degeneration, X-linked atrophic Macular dystrophy, autosomal dominant, chromosome 6-linked Macular dystrophy, patterned Macular dystrophy, retinal, 2 Macular dystrophy, vitelliform Maculopathy, IMPG2-related Majeed syndrome {Major depressive disorder and accelerated response to antidepressant drug treatment} {Major depressive disorder, response to citalopram therapy in} {Malaria, cerebral, reduced risk of} {Malaria, cerebral, susceptibility to} {Malaria, protection against} {Malaria, resistance to} {Malaria, resistance to} {Malaria, susceptibility to} {Male germ cell tumor, somatic}, Malignant fibrous histiocytoma Malignant melanoma, somatic Malonyl-CoA decarboxylase deficiency Mandibuloacral dysplasia with type B lipodystrophy Manitoba oculotrichoanal syndrome Mannosidosis, beta Maple syrup urine disease, type Ib Maple syrup urine disease, type II Maple syrup urine disease, type III Marfan syndrome Marinesco-Sjogren syndrome Marshall syndrome Martsolf syndrome MASP2 deficiency MASS syndrome Mast cell disease Mast syndrome Maturity-onset diabetes of the young 6 Maturity-onset diabetes of the young, type 10 Maturity-onset diabetes of the young, type 11 Maturity-onset diabetes of the young, type VII Maturity-onset diabetes of the young, type VIII May-Hegglin anomaly McCune-Albright syndrome McKusick-Kaufman syndrome McLeod syndrome with or without chronic granulomatous disease Meacham syndrome Meckel syndrome 7 Meckel syndrome, type 1 Meckel syndrome, type 2 Meckel syndrome, type 3 Meckel syndrome type 4 Meckel syndrome, type 5 Meckel syndrome, type 6 Medullary thyroid carcinoma Medullary thyroid carcinoma, familial {Medulloblastoma} Medulloblastoma, desmoplastic Meesmann corneal dystrophy Megakaryoblastic leukemia, acute Megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts 2A Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation Megaloblastic anemia-1, Finnish type Megaloblastic anemia-1, Norwegian type Megaloblastic anemia due to dihydrofolate reductase deficiency Meier-Gorlin syndrome 1 Meier-Gorlin syndrome 2 Meier-Gorlin syndrome 3 {Melanoma, cutaneous malignant, 5} {Melanoma, cutaneous malignant, 6} {Melanoma, cutaneous malignant, susceptibility to, 8} {Melanoma, cutaneous malignant, susceptibility to, 8} Melanoma, desmoplastic neurotrophic Melorheostosis with osteopoikilosis {Meningioma} Meningioma, NF2-related, somatic Menkes disease Mental retardation and microcephaly with pontine and cerebellar hypoplasia Mental retardation, autosomal dominant 1 Mental retardation, autosomal dominant 15 Mental retardation, autosomal dominant 2 Mental retardation, autosomal dominant 6 Mental retardation, autosomal dominant 7 Mental retardation, autosomal recessive 1 Mental retardation, autosomal recessive 13 Mental retardation, autosomal recessive 2 Mental retardation, autosomal recessive, 6 Mental retardation, autosomal recessive 7 Mental retardation, FRA12A type Mental retardation-hypotonic facies syndrome, X-linked Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Mental retardation, truncal obesity, retinal dystrophy, and micropenis Mental retardation with language impairment and autistic features Mental retardation, with or without nystagmus Mental retardation, X-linked Mental retardation, X-linked 17/31, microduplication Mental retardation, X-linked 19 Mental retardation, X-linked 21/34 Mental retardation, X-linked 30/47 Mental retardation, X-linked 46 Mental retardation, X-linked 58 Mental retardation, X-linked 63 Mental retardation, X-linked 88 Mental retardation, X-linked 90 Mental retardation, X-linked 91 Mental retardation, X-linked 94 Mental retardation, X-linked 95 Mental retardation, X-linked, Snyder-Robinson type Mental retardation, X-linked syndromic 10 Mental retardation, X-linked, syndromic 15 (Cabezas type) Mental retardation, X-linked syndromic, Christianson type Mental retardation, X-linked syndromic, Fried type Mental retardation, X-linked syndromic, Nascimento-type Mental retardation, X-linked syndromic, Raymond type Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Mental retardation, X-linked, with epilepsy Mental retardation, X-linked, with isolated growth hormone deficiency {Mesothelioma, somatic} Mesothelioma, somatic {Metabolic syndrome, protection against} Metachondromatosis Metachromatic leukodystrophy Metachromatic leukodystrophy due to SAP-b deficiency Metaphyseal anadysplasia 1 Metaphyseal anadysplasia 2 Metaphyseal chondrodysplasia, Murk Jansen type Metatropic dysplasia Methemoglobinemia, type I Methemoglobinemia, type II Methemoglobinemia, type IV Methionine adenosyltransferase deficiency, autosomal recessive Methylcobalamin deficiency, cblG type Methylmalonate semialdehyde dehydrogenase deficiency Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria and homocystinuria, cblD type Methylmalonic aciduria and homocystinuria, cblF type Methylmalonic aciduria, cblD type, variant 2 Methylmalonic aciduria, mut type Methylmalonic aciduria, vitamin B12-responsive Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type Methylmalonyl-CoA epimerase deficiency Mevalonic aciduria MHC class II deficiency, complementation group B Micochondrial phosphate carrier deficiency Microcephalic osteodysplastic primordial dwarfism, type II Microcephaly, Amish type Microcephaly, postnatal progressive, with seizures and brain atrophy Microcephaly, primary autosomal recessive, 3 Microcephaly, primary autosomal recessive, 4 Microcephaly, primary autosomal recessive, 6 Microcephaly, primary autosomal recessive, 7 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Microphthalmia, isolated 2 Microphthalmia, isolated 7 Microphthalmia, syndromic 2 Microphthalmia, syndromic 3 Microphthalmia, syndromic 5 Microphthalmia, syndromic 6 Microphthalmia, syndromic 7 Microphthalmia, syndromic 9 Microphthalmia with cataract 2 Microphthalmia with cataract 4 Microphthalmia with coloboma 3 Microphthalmia with coloboma 5 Microphthalmia with coloboma 6 Microphthalmia with limb anomalies Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma {Microvascular complications of diabetes 1} {Microvascular complications of diabetes 3} {Microvascular complications of diabetes 6} Migraine, familial hemiplegic, 3 Migraine, resistance to {Migraine, susceptibility to} {Migraine, with or without aura, susceptibility to, 13} Miller syndrome Mirror-image polydactyly Mirror movements 2 Mismatch repair cancer syndrome Mismatch repair cancer syndrome Mismatch repair cancer syndrome Mitochondrial complex I deficiency Mitochondrial complex I deficiency Mitochondrial complex I deficiency Mitochondrial complex I deficiency Mitochondrial complex I deficiency Mitochondrial complex I deficiency Mitochondrial complex I deficiency Mitochondrial complex I deficiency Mitochondrial complex I deficiency Mitochondrial complex III deficiency Mitochondrial complex III deficiency Mitochondrial complex III deficiency Mitochondrial complex III deficiency Mitochondrial complex IV deficiency Mitochondrial complex IV deficiency Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Mitochondrial DNA depletion syndrome 2 (myopathic type) Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA depletion syndrome 4B (MNGIE type) Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) Mitochondrial DNA depletion syndrome 8B (MNGIE type) Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) Mitochondrial myopathy and sideroblastic anemia 1 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Mitochondrial respiratory chain complex II deficiency MODY, type I MODY, type III MODY, type IV Mohr-Tranebjaerg syndrome Molybdenum cofactor deficiency, type B Molybdenum cofactor deficiency, type C Mononeuropathy of the median nerve, mild Morning glory disc anomaly Mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy syndrome 2 Mowat-Wilson syndrome {Moyamoya disease 2, susceptibility to} Moyamoya disease 5 Muckle-Wells syndrome Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta Mucolipidosis III gamma Mucolipidosis IV Mucopolysaccharidisis type IIIA (Sanfilippo A) Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s Mucopolysaccharidosis II Mucopolysaccharidosis Is Mucopolysaccharidosis IVA Mucopolysaccharidosis type IIIB (Sanfilippo B) Mucopolysaccharidosis type IIIC (Sanfilippo C) Mucopolysaccharidosis type IIID Mucopolysaccharidosis type IVB (Morquio) Mucopolysaccharidosis type IX Mucopolysaccharidosis VII Muenke syndrome Muir-Torre syndrome Muir-Torre syndrome Mulibrey nanism Mullerian aplasia and hyperandrogenism Multiple congenital anomalies-hypotonia-seizures syndrome 1 Multiple congenital anomalies-hypotonia-seizures syndrome 2 Multiple endocrine neoplasia IIA Multiple endocrine neoplasia IIB Multiple endocrine neoplasia, type IV Multiple myeloma {Multiple myeloma, resistance to} Multiple pterygium syndrome, lethal type Multiple pterygium syndrome, lethal type Multiple pterygium syndrome, lethal type {Multiple sclerosis, disease progression, modifier of} {Multiple self-healing squamous epithelioma, susceptiblity to} Multiple synostoses syndrome 2 Multiple synostoses syndrome 3 Multiple synostosis syndrome 1 Multisystemic smooth muscle dysfunction syndrome Muscle hypertrophy Muscular dystrophy, congenital, due to partial LAMA2 deficiency Muscular dystrophy, congenital merosin-deficient Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 Muscular dystrophy, limb-girdle, type 1A Muscular dystrophy, limb-girdle, type 2A Muscular dystrophy, limb-girdle, type 2C Muscular dystrophy, limb-girdle, type 2E Muscular dystrophy, limb-girdle, type 2F Muscular dystrophy, limb-girdle, type IC Muscular dystrophy, rigid spine, 1 Myasthenia gravis, neonatal transient Myasthenia, limb-girdle, familial Myasthenia, limb-girdle, familial Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myasthenic syndrome, congenital, associated with episodic apnea Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Myasthenic syndrome, congenital, with tubular aggregates 2 Myasthenic syndrome, fast-channel congenital Myasthenic syndrome, fast-channel congenital Myasthenic syndrome, slow-channel congenital Myasthenic syndrome, slow-channel congenital Mycobacterial and viral infections, susceptibility to, autosomal recessive {Mycobacterial infection, atypical, familial disseminated} Mycobacterial infection, atypical, familial disseminated Mycobacterial infection, atypical, familial disseminated {Mycobacterium tuberculosis infection, protection against} {Mycobacterium tuberculosis, susceptibility to infection by} Myelofibrosis, idiopathic Myelofibrosis with myeloid metaplasia, somatic Myeloid leukemia, acute, M4/M4Eo subtype, somatic Myeloperoxidase deficiency Myeloproliferative disorder Myeloproliferative disorder with eosinophilia {Myocardial infarcation, susceptibility to} {Myocardial infarction, decreased susceptibility to} {Myocardial infarction, protection against} {Myocardial infarction, susceptibility to} {Myocardial infarction, susceptibility to} {Myocardial infarction, susceptibility to} {Myocardial infarction, susceptibility to} {Myocardial infarction, susceptibility to} Myoclonic epilepsy, infantile, familial {Myoclonic epilepsy, juvenile, susceptibility to, 1} Myoglobinuria, acute recurrent, autosomal recessive Myokymia Myopathy, actin, congenital, with excess of thin myofilaments Myopathy, centronuclear, 3 Myopathy, congenital, Compton-North Myopathy, congenital, with fiber-type disproportion Myopathy, congenital, with fiber-type disproportion 1 Myopathy, distal 2 Myopathy, distal, Tateyama type Myopathy due to CPT II deficiency Myopathy, lactic acidosis, and sideroblastic anemia 2 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Myopathy, myofibrillar, alpha-B crystallin-related Myopathy, myofibrillar, BAG3-related Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related Myopathy, myosin storage Myopathy, nemaline, 3 Myopathy, spheroid body Myopathy, X-linked, with excessive autophagy Myosclerosis, congenital Myotilinopathy Myotonia congenita, dominant Myotonia congenita, recessive Myotonic dystrophy 2 Myotubular myopathy, X-linked Myxoma, intracardiac N-acetylaspartate deficiency Nail-patella syndrome Nance-Horan syndrome Narcolepsy 1 Nasu-Hakola disease {Natural teeth remaining intact} Nemaline myopathy 2, autosomal recessive Nemaline myopathy 6 Nemaline myopathy 7 Nephrolithiasis/osteoporosis, hypophosphatemic, 1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 Nephrolithiasis, type I {Nephrolithiasis, uric acid, susceptibility to} Nephronophthisis 11 Nephronophthisis 12 Nephronophthisis 1, juvenile Nephronophthisis 2, infantile Nephronophthisis 3 Nephronophthisis 9 Nephronophthisis-like nephropathy 1 Nephropathy with pretibial epidermolysis bullosa and deafness Nephrotic syndrome, type 2 Nephrotic syndrome, type 4 Nephrotic syndrome, type 5, with or without ocular abnormalities Netherton syndrome Neural tube defects {Neural tube defects, folate-sensitive, susceptibility to} {Neural tube defects, folate-sensitive, susceptibility to} {Neural tube defects, susceptibility to} {Neural tube defects, susceptibility to} Neuroblastoma {Neuroblastoma, susceptibility to, 1} {Neuroblastoma, susceptibility to, 2} {Neuroblastoma, susceptibility to, 3} Neuroblastoma with Hirschsprung disease Neurodegeneration due to cerebral folate transport deficiency Neurodegeneration with brain iron accumulation 2B Neuroepithelioma Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Neurofibromatosis, type 2 Neuronopathy, distal hereditary motor, type IIC Neuronopathy, distal hereditary motor, type VB Neuropathy, distal hereditary motor, type IIA Neuropathy, distal hereditary motor, type IIB Neuropathy, distal hereditary motor, type V Neuropathy, hereditary sensory and autonomic, type IA Neuropathy, hereditary sensory and autonomic, type IC Neuropathy, hereditary sensory and autonomic, type II Neuropathy, hereditary sensory and autonomic, type V Neuropathy, hereditary sensory, type ID Neuropathy, hereditary sensory, with spastic paraplegia Neuropathy, inflammatory demyelinating Neuropathy, recurrent, with pressure palsies Neutral lipid storage disease with myopathy Neutropenia, nonimmune chronic idiopathic, of adults Neutropenia, severe congenital 2, autosomal dominant Neutrophilia, hereditary Neutrophil immunodeficiency syndrome Nevo syndrome Nevus, epidermal, somatic Nevus, epidermal, somatic {Nevus sebaceous, somatic} Newfoundland rod-cone dystrophy {Nicotine addiction, susceptibility to} {Nicotine dependence, protection against} {Nicotine dependence, susceptibility to} {Nicotine dependence, susceptibility to} Niemann-Pick disease, type C1 Niemann-pick disease, type C2 Niemann-Pick disease, type D Night blindness, congenital stationary, autosomal dominant 2 Night blindness, congenital stationary, type 1A Night blindness, congenital stationary, type 1C Night blindness, congenital stationery, autosomal dominant 1 Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder Nonaka myopathy {Nonarteritic anterior ischemic optic neuropathy, susceptibility to} Non-Hodgkin lymphoma, somatic {Nonsmall cell lung cancer} Nonsmall cell lung cancer, somatic Nonsmall cell lung cancer, somatic Noonan-like syndrome with loose anagen hair Noonan syndrome 1 Noonan syndrome 3 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia Norrie disease [Novelty seeking personality] Nystagmus 1, congenital, X-linked Nystagmus 6, congenital, X-linked Nystagmus, infantile periodic alternating, X-linked Obesity, adrenal insufficiency, and red hair due to POMC deficiency {Obesity, association with} Obesity, autosomal dominant {Obesity, early-onset, susceptibility to} Obesity, hyperphagia, and developmental delay {Obesity, late-onset} Obesity, mild, early-onset Obesity, severe Obesity, severe {Obesity, severe, and type II diabetes} {Obesity, susceptibility to} {Obesity, susceptibility to} {Obesity, variation in} {Obsessive-compulsive disorder} {Obsessive-compulsive disorder, protection against} {Obsessive-compulsive disorder, susceptibility to} Occipital horn syndrome Ocular albinism, type I, Nettleship-Falls type Oculoauricular syndrome {Oculocutaneous albinism, type II, modifier of} Oculocutaneous albinism, type IV Oculodentodigital dysplasia Oculodentodigital dysplasia, autosomal recessive Odontohypophosphatasia Odontoonychodermal dysplasia Oguchi disease-1 OKT4 epitope deficiency Oligodontia-colorectal cancer syndrome Omenn syndrome Omenn syndrome Omenn syndrome Omodysplasia 1 Opitz GBBB syndrome, type I Optic atrophy 1 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy Optic nerve coloboma with renal disease Optic nerve hypoplasia Optic nerve hypoplasia and abnormalities of the central nervous system Oral-facial-digital syndrome 1 Ornithine transcarbamylase deficiency Orofacial cleft 11 Orofacial cleft 5 Orofacial cleft 6 Orofacial cleft 8 Orotic aciduria Orthostatic intolerance Osseous heteroplasia, progressive Ossification of posterior longitudinal ligament of spine {Ossification of the posterior longitudinal spinal ligaments} {Osteoarthritis} {Osteoarthritis susceptibility 1} {Osteoarthritis susceptibility 2} {Osteoarthritis susceptibility 3} Osteoarthritis with mild chondrodysplasia Osteogenesis imperfecta, type II Osteogenesis imperfecta, type III Osteogenesis imperfecta, type IV Osteogenesis imperfecta, type IX Osteogenesis imperfecta, type VI Osteogenesis imperfecta, type VII Osteogenesis imperfecta, type VIII Osteogenesis imperfecta, type X Osteoglophonic dysplasia Osteolysis, familial expansile Osteopathia striata with cranial sclerosis Osteopetrosis, autosomal dominant 1 Osteopetrosis, autosomal dominant 2 Osteopetrosis, autosomal recessive 1 Osteopetrosis, autosomal recessive 2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis Osteopetrosis, autosomal recessive 4 Osteopetrosis, autosomal recessive 5 Osteopetrosis, autosomal recessive 6 Osteopetrosis, autosomal recessive 7 Osteopoikilosis {Osteoporosis} ?Osteoporosis, involutional {Osteoporosis, postmenopausal} {Osteoporosis, postmenopausal, susceptibility} Osteoporosis-pseudoglioma syndrome {Osteoporosis, susceptibility to} Osteosarcoma, somatic Osteosarcoma, somatic Osteosclerosis Otofaciocervical syndrome Otospondylomegaepiphyseal dysplasia Ovarian cancer Ovarian cancer, somatic Ovarian cancer, somatic Ovarian carcinoma, somatic Ovarian dysgenesis 1 Ovarian dysgenesis 2 Ovarian hyperstimulation syndrome Ovarian response to FSH stimulation Ovarioleukodystrophy Ovarioleukodystrophy Ovarioleukodystrophy Paget disease, juvenile Paget disease of bone Paget disease of bone Pallister-Hall syndrome Palmoplantar hyperkeratosis and true hermaphroditism Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal Pancreatic agenesis Pancreatic cancer {Pancreatic cancer, susceptibility to, 1} {Pancreatic cancer, susceptibility to, 3} {Pancreatic cancer, susceptibility to, 4} Pancreatic carcinoma, somatic Pancreatic lipase deficiency {Pancreatitis, chronic, susceptibility to} Panhypopituitarism, X-linked {Panic disorder, susceptibility to} Papillon-Lefevre syndrome Paraganglioma and gastric stromal sarcoma Paraganglioma and gastric stromal sarcoma Paragangliomas 1, with or without deafness Paragangliomas 2 Paragangliomas 4 Paragangliomas 5 Parastremmatic dwarfism Parathyroid adenoma with cystic changes Parathyroid carcinoma Parietal foramina 1 Parietal foramina 2 Parietal foramina with cleidocranial dysplasia Parkes Weber slndrome Parkinson disease 1 Parkinson disease 11 Parkinson disease 14 Parkinson disease 15, autosomal recessive Parkinson disease 4 {Parkinson disease 5, susceptibility to} Parkinson disease 6, early onset Parkinson disease 7, autosomal recessive early-onset Parkinson disease, juvenile, type 2 {Parkinson disease, susceptibility to} Paroxysmal extreme pain disorder Paroxysmal nocturnal hemoglobinuria, somatic PCWH syndrome Pelger-Huet anomaly Pendred syndrome Pentosuria Periodic fever, familial Periodic fever, familial Periodontitis, juvenile Periventricular heterotopia with microcephaly Peroxisomal acyl-CoA oxidase deficiency Perrault syndrome Persistent Mullerian duct syndrome, type I Persistent truncus arteriosus Peters anomaly Peters anomaly Peters anomaly Peters-plus syndrome Peutz-Jeghers syndrome Pfeiffer syndrome Pfeiffer syndrome Phenylketonuria Pheochromocytoma Pheochromocytoma Pheochromocytoma Pheochromocytoma Pheochromocytoma {Pheochromocytoma, modifier of} Phosphoglycerate dehydrogenase deficiency Phosphoglycerate kinase 1 deficiency Phosphorylase kinase deficiency of liver and muscle, autosomal recessive Phosphoserine aminotransferase deficiency Pick disease Piebaldism Piebaldism Pierson syndrome Pigmented nodular adrenocortical disease, primary, 1 Pigmented nodular adrenocortical disease, primary, 2 Pigmented nodular adrenocortical disease, primary, 3 Pilomatricoma Pitt-Hopkins-like syndrome 2 Pituitary adenoma, ACTH-secreting Pituitary adenoma, growth hormone-secreting Pituitary adenoma, prolactin-secreting Pituitary hormone deficiency, combined, 1 Pituitary hormone deficiency, combined, 3 Pituitary hormone deficiency, combined, 5 Pituitary hormone deficiency, combined, 6 Plasma fibronectin deficiency Platelet-activating factor acetylhydrolase deficiency Platelet glycoprotein IV deficiency Platyspondylic skeletal dysplasia, Torrance type Pleuropulmonary blastoma {Pneumococcal disease, invasive, protection against} Pneumothorax, primary spontaneous Poikiloderma with neutropenia Polycystic kidney and hepatic disease Polycystic kidney disease 2 Polycystic kidney disease, adult type I Polycystic liver disease Polycythemia vera Polydactyly, postaxial, types A1 and B Polydactyly, preaxial type II Polydactyly, preaxial, type IV Polyhydramnios, megalencephaly, and symptomatic epilepsy Polymicrogyria, asymmetric Polymicrogyria, bilateral frontoparietal Polymicrogyria with optic nerve hypoplasia Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Polyposis, juvenile intestinal Polyposis syndrome, hereditary mixed, 2 Pontocerebellar hypoplasia type 1A Pontocerebellar hypoplasia type 2A Pontocerebellar hypoplasia type 2B Pontocerebellar hypoplasia type 2D Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia, type 6 Popliteal pterygium syndrome Porencephaly 1 Porokeratosis, disseminated superficial actinic, 1 Porphyria, acute intermittent Porphyria, acute intermittent, nonerythroid variant Porphyria, congenital erythropoietic Porphyria cutanea tarda Porphyria, hepatoerythropoietic Precocious puberty, male {Preeclampsia, susceptibility to} {Pregnancy loss, recurrent, susceptibility to, 2} [Premature chromatid separation trait] Premature ovarian failure 1 Premature ovarian failure 2B Premature ovarian failure 3 Premature ovarian failure 4 Premature ovarian failure 7 {Preterm premature rupture of the membranes, susceptibility to} Primary lateral sclerosis, juvenile Prion disease with protracted course Progressive external ophthalmoplegia, autosomal dominant Progressive external ophthalmoplegia, autosomal dominant, 3 Progressive external ophthalmoplegia, autosomal recessive Progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 Prolidase deficiency Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome Propionicacidemia Propionicacidemia Prostate cancer Prostate cancer 1 {Prostate cancer, familial, susceptibility to} {Prostate cancer, hereditary, 13} {Prostate cancer, hereditary, 2, susceptibility to} Prostate cancer, progression and metastasis of {Prostate cancer, progression of} {Prostate cancer, somatic} Prostate cancer, somatic Prostate cancer, somatic {Prostate cancer, susceptibility to} {Prostate cancer, susceptibility to} {Prostate cancer, susceptibility to} {Prostate cancer, susceptibility to} {Prostate cancer, susceptibility to} Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis [Protein Z deficiency] Proteus syndrome, somatic Protoporphyria, erythropoietic, autosomal recessive Pseudoachondroplasia {Pseudofolliculitis barbae, susceptibility to} Pseudohypoaldosteronism, type I Pseudohypoaldosteronism, type I Pseudohypoaldosteronism, type I Pseudohypoaldosteronism type I, autosomal dominant Pseudohypoaldosteronism, type IIC Pseudohypoparathyroidism Ia Pseudohypoparathyroidism Ib Pseudohypoparathyroidism Ic Pseudohypoparathyroidism, type IB Pseudopseudohypoparathyroidism Pseudovaginal perineoscrotal hypospadias Pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste {Pseudoxanthoma elasticum, modifier of severity of} {Pseudoxanthoma elasticum, modifier of severity of} {Psoriasis, protection against} {Psoriasis susceptibility 13} Pulmonary alveolar microlithiasis {Pulmonary disease, chronic obstructive, susceptibility to} {Pulmonary fibrosis,idiopathic, susceptibility to} {Pulmonary hypertension, familial persistent, of the newborn} Pulmonary hypertension, familial primary Pulmonary hypertension, primary Pulmonary hypertension, primary, fenfluramine-associated Pulmonary venoocclusive disease Pyogenic bacterial infections, recurrent, due to MYD88 deficiency Pyogenic sterile arthritis, pyoderma gangrenosum, and acne Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase phosphatase deficiency Quebec platelet disorder Rabson-Mendenhall syndrome Radioulnar synostosis with amegakaryocytic thrombocytopenia Raine syndrome RAPADILINO syndrome {Rapid progression to AIDS from HIV1 infection} Rapp-Hodgkin syndrome Refsum disease Refsum disease Refsum disease, infantile Refsum disease, infantile Refsum disease, infantile Renal agenesis Renal carcinoma, chromophobe, somatic Renal cell carcinoma Renal cell carcinoma Renal cell carcinoma Renal cell carcinoma, clear cell, somatic Renal cell carcinoma, papillary Renal cell carcinoma, papillary, familial and somatic Renal cell carcinoma, somatic Renal-hepatic-pancreatic dysplasia Renal tubular acidosis, distal, autosomal recessive Renal tubular acidosis, proximal, with ocular abnormalities Renal tubular dysgenesis Renal tubular dysgenesis Renal tubular dysgenesis [Resting heart rate] Restrictive dermopathy, lethal Reticular dysgenesis Retinal cone dystrophy 3 Retinal cone dystrophy 3B Retinal degeneration, late-onset, autosomal dominant Retinal dystrophy, early-onset, and pituitary dysfunction Retinal dystrophy, early-onset severe Retinal dystrophy, early-onset severe Retinitis pigmentosa 13 Retinitis pigmentosa 14 Retinitis pigmentosa 17 Retinitis pigmentosa 18 Retinitis pigmentosa 19 Retinitis pigmentosa 2 Retinitis pigmentosa 20 Retinitis pigmentosa 25 Retinitis pigmentosa 26 Retinitis pigmentosa 28 Retinitis pigmentosa 3 Retinitis pigmentosa 30 Retinitis pigmentosa 37 Retinitis pigmentosa 38 Retinitis pigmentosa 39 Retinitis pigmentosa-40 Retinitis pigmentosa 41 Retinitis pigmentosa 42 Retinitis pigmentosa 44 Retinitis pigmentosa 45 Retinitis pigmentosa 46 Retinitis pigmentosa 47 Retinitis pigmentosa 48 Retinitis pigmentosa 49 Retinitis pigmentosa 4, autosomal dominant or recessive Retinitis pigmentosa-50 Retinitis pigmentosa 51 Retinitis pigmentosa 54 Retinitis pigmentosa 56 Retinitis pigmentosa 57 Retinitis pigmentosa 58 Retinitis pigmentosa 59 Retinitis pigmentosa 60 Retinitis pigmentosa 61 Retinitis pigmentosa 7 Retinitis pigmentosa 9 Retinitis pigmentosa, concentric Retinitis pigmentosa, digenic Retinitis pigmentosa, juvenile Retinitis pigmentosa, juvenile Retinitis pigmentosa, juvenile, autosomal recessive Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness Retinitis punctata albescens Retinitis punctata albescens Retinitis punctata albescens Retinoblastoma Retinoblastoma, trilateral Retinopathy of prematurity Rett syndrome, congenital variant Reynolds syndrome Rhabdoid predisposition syndrome 1 Rhabdoid tumors, somatic Rhabdomyosarcoma 2, alveolar Rhabdomyosarcoma 2, alveolar Rhabdomyosarcoma, alveolar Rhabdomyosarcoma, somatic {Rheumatoid arthritis, progression of} {Rheumatoid arthritis, susceptibility to} {Rheumatoid arthritis, susceptibility to} {Rheumatoid arthritis, systemic juvenile} Rhizomelic chondrodysplasia punctata, type 1 Rhizomelic chondrodysplasia punctata, type 3 Ribose 5-phosphate isomerase deficiency Rickets due to defect in vitamin D 25-hydroxylation Rickets, vitamin D-resistant, type IIA RIDDLE syndrome Ring dermoid of cornea Rippling muscle disease Roberts syndrome Robinow syndrome, autosomal recessive Rolandic epilepsy, mental retardation, and speech dyspraxia Rothmund-Thomson syndrome Roussy-Levy syndrome Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome 2 Saccharopinuria Saethre-Chotzen syndrome Salla disease Sandhoff disease, infantile, juvenile, and adult forms [Sarcosinemia] Scaphocephaly, maxillary retrusion, and mental retardation Scapuloperoneal spinal muscular atrophy Scapuloperoneal syndrome, myopathic type Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic Schindler disease, type I Schindler disease, type III Schinzel-Giedion midface retraction syndrome Schizencephaly Schizencephaly {Schizophrenia} {Schizophrenia} Schizophrenia, neurophysiologic defect in {?Schizophrenia, susceptibility to} {Schizophrenia, susceptibility to} {Schizophrenia, susceptibility to} {Schizophrenia, susceptibility to} {Schizophrenia, susceptibility to} {Schizophrenia, susceptibility to} {Schizophrenia, susceptibility to} {Schizophrenia, susceptibility to} {Schizophrenia, susceptibility to, 17} Schneckenbecken dysplasia Schopf-Schulz-Passarge syndrome Schwannomatosis Schwartz-Jampel syndrome, type 1 SCID, autosomal recessive, T-negative/B-positive type Sclerosteosis Sclerosteosis 2 {Scoliosis, idiopathic 3} Scott syndrome SC phocomelia syndrome {Seasonal affective disorder, susceptibility to} Sebastian syndrome Seckel syndrome 2 Seckel syndrome 4 Seckel syndrome 5 SED congenita SED, Maroteaux type Segawa syndrome, recessive Seizures, benign familial infantile, 3 Seizures, benign neonatal, 1 SEMD, Pakistani type Senior-Loken syndrome-1 Senior-Loken syndrome 5 Senior-Loken syndrome 6 Sensorineural deafness with mild renal dysfunction Septooptic dysplasia SERKAL syndrome Severe combined immunodeficiency, Athabascan type Severe combined immunodeficiency, B cell-negative Severe combined immunodeficiency, B cell-negative Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Severe combined immunodeficiency with sensitivity to ionizing radiation Severe combined immunodeficiency, X-linked SFM syndrome, somatic mosaic Short QT syndrome-2 Short QT syndrome-3 Short rib-polydactyly syndorme, type II Short rib-polydactyly syndrome, type II, digenic Short rib-polydactyly syndrome, type III Short rib-polydactyly syndrome, type V Short stature Short stature Shprintzen-Goldberg syndrome Shwachman-Bodian-Diamond syndrome Sialic acid storage disorder, infantile Sialuria Sick sinus syndrome 1 Sick sinus syndrome 2 Simpson-Golabi-Behmel syndrome, type 1 Simpson-Golabi-Behmel syndrome, type 2 Single median maxillary central incisor Sitosterolemia Sitosterolemia Sjogren-Larsson syndrome Skeletal defects, genital hypoplasia, and mental retardation Skin fragility-woolly hair syndrome [Skin/hair/eye pigmentation 1, blond/brown hair] [Skin/hair/eye pigmentation 1, blond/brown hair] [Skin/hair/eye pigmentation 1, blue/nonblue eyes] [Skin/hair/eye pigmentation 1, blue/nonblue eyes] [Skin/hair/eye pigmentation 2, blond hair/fair skin] [Skin/hair/eye pigmentation 2, red hair/fair skin] [Skin/hair/eye pigmentation 3, blue/green eyes] [Skin/hair/eye pigmentation 3, light/dark/freckling skin] [Skin/hair/eye pigmentation 5, black/nonblack hair] [Skin/hair/eye pigmentation 5, dark/fair skin] [Skin/hair/eye pigmentation 5, dark/light eyes] [Skin/hair/eye pigmentation 6, blond/brown hair] [Skin/hair/eye pigmentation 6, blue/green eyes] [Skin/hair/eye pigmentation 7, blond/brown hair] Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair) Slowed nerve conduction velocity, AD Small cell cancer of the lung, somatic Small fiber neuropathy Small patella syndrome SMED Strudwick type Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia [Sodium serum level QTL 1] Somatostatin analog, resistance to Sorsby fundus dystrophy Sotos syndrome 1 Spastic ataxia, Charlevoix-Saguenay type Spastic paralysis, infantile onset ascending Spastic paraplegia 13, autosomal dominant Spastic paraplegia 15, autosomal recessive Spastic paraplegia 31, autosomal dominant Spastic paraplegia 33, autosomal dominant Spastic paraplegia 35, autosomal recessive Spastic paraplegia 3A, autosomal dominant Spastic paraplegia 42, autosomal dominant Spastic paraplegia, 44 Spastic paraplegia 48, autosomal recessive Spastic paraplegia 4, autosomal dominant Spastic paraplegia 51, autosomal recessive Spastic paraplegia 5A, autosomal recessive Spastic paraplegia 6, autosomal dominant Spastic paraplegia 7, autosomal recessive Spastic paraplegia 8, autosomal dominant Speech-language disorder-1 Spermatocytic seminoma, somatic Spermatogenic failure 4 Spermatogenic failure 6 Spermatogenic failure 8 Spherocytosis, hereditary, type 5 {Spina bifida, folate-sensitive, susceptibility to} Spinal and bulbar muscular atrophy of Kennedy Spinal muscular atrophy, distal, autosomal recessive, 4 Spinal muscular atrophy, distal, congenital nonprogressive Spinal muscular atrophy, distal, X-linked 3 Spinal muscular atrophy, late-onset, Finkel type Spinal muscular atrophy with progressive myoclonic epilepsy Spinocerebellar ataxia 10 Spinocerebellar ataxia 11 Spinocerebellar ataxia 12 Spinocerebellar ataxia 15 Spinocerebellar ataxia 17 Spinocerebellar ataxia 2 Spinocerebellar ataxia 27 Spinocerebellar ataxia 28 Spinocerebellar ataxia 31 Spinocerebellar ataxia 35 Spinocerebellar ataxia 7 Spinocerebellar ataxia, autosomal recessive 8 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy Split hand/foot malformation 1 Split-hand/foot malformation 4 Spondylocarpotarsal synostosis syndrome Spondylocheirodysplasia, Ehlers-Danlos syndrome-like Spondylocostal dysostosis, autosomal recessive 2 Spondylocostal dysostosis, autosomal recessive 3 Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Missouri type Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda with progressive arthropathy Spondyloepiphyseal dysplasia with congenital joint dislocations Spondylometaepiphyseal dysplasia, short limb-hand type Spondylometaphyseal dysplasia, Kozlowski type Spondyloperipheral dysplasia Squamous cell carcinoma, head and neck, somatic Squamous cell carcinoma, head and neck, somatic Stapes ankylosis with broad thumb and toes Stargardt disease 1 Stargardt disease 3 Stargardt disease 4 Stickler sydrome, type I, nonsyndromic ocular Stickler syndrome, type I Stickler syndrome, type II Stickler syndrome, type IV Stiff skin syndrome Striatal degeneration, autosomal dominant Striatonigral degeneration, infantile {Stroke, hemorrhagic} {Stroke, ischemic, susceptibility to} {Stroke, susceptibility to} Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome Subcortical laminal heteropia, X-linked Subcortical laminar heterotopia Succinic semialdehyde dehydrogenase deficiency Succinyl CoA:3-oxoacid CoA transferase deficiency Sucrase-isomaltase deficiency, congenital {Sudden infant death syndrome, susceptibility to} Surfactant metabolism dysfunction, pulmonary, 3 Surfactant metabolism dysfunction, pulmonary, 5 Sveinsson choreoretinal atrophy Symphalangism, proximal Symphalangism, proximal Syndactyly, type III Syndactyly, type IV Syndactyly, type V Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses Synpolydactyly, type II Synpolydactyly with foot anomalies {Systemic lupus erythematosus, resistance to} {Systemic lupus erythematosus susceptibility to} {Systemic lupus erythematosus, susceptibility to} {Systemic lupus erythematosus, susceptibility to, 1} {Systemic lupus erythematosus, susceptibility to, 10} {Systemic lupus erythematosus, susceptibility to, 2} {Systemic lupus erythematosus, susceptitbility to, 11} Tangier disease Tarsal-carpal coalition syndrome Tay-Sachs disease T-cell immunodeficiency, congenital alopecia, and nail dystrophy Telangiectasia, hereditary hemorrhagic, type 1 Temtamy preaxial brachydactyly syndrome ?Testicular microlithiasis Testicular tumor, sporadic Tetralogy of Fallot Tetralogy of Fallot Tetrology of Fallot Thanatophoric dysplasia, type I Thanatophoric dysplasia, type II Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) Thiamine-responsive megaloblastic anemia syndrome Thrombocythemia 2 Thrombocythemia 3 Thrombocytopenia 2 Thrombocytopenia-2 Thrombocytopenia, congenital amegakaryocytic {Thromboembolism, susceptibility to} Thrombophilia due to antithrombin III deficiency Thrombophilia due to elevated HRG Thrombophilia due to heparin cofactor II deficiency Thrombophilia due to HRG deficiency Thrombophilia due to protein C deficiency, autosomal dominant Thrombophilia due to protein C deficiency, autosomal recessive Thrombophilia due to protein S deficiency, autosomal dominant Thrombophilia due to protein S deficiency, autosomal recessive Thrombophilia due to thrombin defect Thrombophilia due to thrombomodulin defect Thrombophilia, familial, due to decreased release of PLAT Thrombophilia, X-linked, due to factor IX defect Thrombosis, hyperhomocysteinemic Thrombotic thrombocytopenic purpura, familial ?Thromboxane synthase deficiency Thryoid dyshormonogenesis 6 Thyroid carcinoma, follicular Thyroid carcinoma, follicular {Thyroid carcinoma, follicular, somatic} Thyroid carcinoma, follicular, somatic Thyroid carcinoma, papillary Thyroid carcinoma, papillary Thyroid carcinoma, papillary Thyroid carcinoma, papillary Thyroid carcinoma, papillary Thyroid carcinoma, papillary, somatic Thyroid dyshormonogenesis 2A Thyroid dyshormonogenesis 4 Thyroid hormone metabolism, abnormal Thyroid hormone resistance Thyroid hormone resistance, autosomal recessive Thyroid hormone resistance, selective pituitary Thyroid papillary carcinoma Thyrotropin-releasing hormone deficiency Tietz albinism-deafness syndrome Timothy syndrome Tn syndrome Tooth agenesis, selective, 1, with or without orofacial cleft Tooth agenesis, selective, 3 Tooth agenesis, selective, 4 Torg-Winchester syndrome Tourette syndrome Townes-Brocks branchiootorenal-like syndrome Townes-Brocks syndrome Transposition of the great arteries, dextro-looped 1 Treacher Collins syndrome 1 Treacher Collins syndrome 2 Treacher Collins syndrome 3 Trichoepithelioma, multiple familial, 1 Trichorhinophalangeal syndrome, type I Trichorhinophalangeal syndrome, type III Trichothiodystrophy Trichothiodystrophy, complementation group A Trichothiodystrophy, nonphotosensitive 1 Trichotillomania Trifunctional protein deficiency Trifunctional protein deficiency Trigonocephaly 1 Trigonocephaly 2 Triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumb, type I Troyer syndrome {Tuberculosis, protection against} {Tuberculosis, susceptibility to} {Tuberculosis, susceptibility to} Tuberous sclerosis-1 Tumoral calcinosis, hyperphosphatemic Tumoral calcinosis, hyperphosphatemic, familial Tyrosinemia, type I Tyrosinemia, type II Tyrosinemia, type III Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy Ulna and fibula, absence of, with sever limb deficiency Ulnar-mammary syndrome {Unipolar depression, susceptibility to} {Uric acid concentration, serum, QTL 2} Urocanase deficiency Urofacial syndrome Usher syndrome, type 1B Usher syndrome, type 1C Usher syndrome, type 1D Usher syndrome, type 1D/F digenic Usher syndrome, type 1D/F digenic Usher syndrome, type 1F Usher syndrome, type 1G Usher syndrome, type 2A Usher syndrome, type 3A {UV-induced skin damage} UV-sensitive syndrome 1 UV-sensitive syndrome 2 VACTERL association Van Buchem disease van Buchem disease, type 2 van der Woude syndrome VATER association with macrocephaly and ventriculomegaly Venous malformations, multiple cutaneous and mucosal {Venous thromboembolism, susceptibility to} {Venous thrombosis, protection against} Ventricular fibrillation, familial, 1 Ventricular fibrillation, paroxysmal familial, 2 Ventricular septal defect 1 Ventricular septal defect 3 Ventricular tachycardia, catecholaminergic polymorphic, 2 Ventricular tachycardia, idiopathic Vertical talus, congenital Vesicoureteral reflux 2 Vesicoureteral reflux 3 Vitelliform macular dystrophy, adult-onset Vitreoretinochoroidopathy {von Hippel-Lindau disease, modification of} von Hippel-Lindau syndrome von Willebrand disease, platelet-type von Willebrand disease, type 1 von Willebrand disease, types 2A, 2B, 2M, and 2N von Willibrand disease, type 3 Waardenburg syndrome/albinism, digenic Waardenburg syndrome/ocular albinism, digenic Waardenburg syndrome, type 1 Waardenburg syndrome, type 2A Waardenburg syndrome, type 2D Waardenburg syndrome, type 2E, with or without neurologic involvement Waardenburg syndrome, type 3 Waardenburg syndrome, type 4A Waardenburg syndrome, type 4C Wagner syndrome 1 Warburg micro syndrome 1 Warburg micro syndrome 2 {Warfarin sensitivity} Warfarin sensitivity Warsaw breakage syndrome Watson syndrome Weaver syndrome Weill-Marchesani-like syndrome Weill-Marchesani syndrome 1, recessive Weill-Marchesani syndrome 2, dominant Werner syndrome {West nile virus, susceptibility to} Weyers acrodental dysostosis WHIM syndrome White sponge nevus Wilms tumor Wilms tumor, somatic {Wilms tumor susceptibility-5} Wilms tumor, type 1 Wilson disease Witkop syndrome Wolcott-Rallison syndrome Wolff-Parkinson-White syndrome Wolfram-like syndrome, autosomal dominant Wolfram syndrome Wolfram syndrome 2 Wolman disease Woodhouse-Sakati syndrome Woolly hair, autosomal recessive 1, with or without hypotrichosis Woolly hair, autosomal recessive 2 with or without hypotrichosis Wrinkly skin syndrome Xanthinuria, type I Xeroderma pigmentosum, group A Xeroderma pigmentosum, group B Xeroderma pigmentosum, group C Xeroderma pigmentosum, group E, DDB-negative subtype Xeroderma pigmentosum, group F Xeroderma pigmentosum, group G Xeroderma pigmentosum, variant type XFE progeroid syndrome Zellweger syndrome Zellweger syndrome Zellweger syndrome Zellweger syndrome Zellweger syndrome Zellweger syndrome-1 Zellweger syndrome, complementation group G
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A2M A4GALT AANAT AARS AASS ABAT ABCA1 ABCA12 ABCA3 ABCA4 ABCB1 ABCB7 ABCC2 ABCC6 ABCC8 ABCD3 ABCG5 ABCG8 ABHD12 ABHD4 ABL1 ABL2 ACAA1 ACACA ACAD8 ACAD9 ACADL ACADS ACADSB ACAT1 ACE ACOX1 ACSL4 ACSL6 ACSM3 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ACTN2 ACVR1 ACVR1B ACVR2B ADA ADAM9 ADAMTS10 ADAMTS13 ADAMTS17 ADAMTS2 ADAMTSL2 ADAR ADCY10 ADD1 ADGRG1 ADH1C ADIPOQ ADRA2C ADRB2 ADRB3 ADSL AFG3L2 AGA AGGF1 AGL AGPAT2 AGPS AGRN AGRP AGT AGTR1 AGTR2 AHCY AICDA AIFM1 AIMP1 AIP AIPL1 AIRE AK2 AKAP10 AKAP9 AKR1D1 AKT1 ALB ALDH2 ALDH3A2 ALDH4A1 ALDH5A1 ALDH6A1 ALDH7A1 ALDOB ALG1 ALG10 ALG11 ALG3 ALG6 ALG8 ALG9 ALK ALOX15B ALOX5AP ALPL ALS2 ALX1 ALX4 AMACR AMER1 AMH AMMECR1 AMN AMPD3 ANGPTL4 ANK2 ANKH ANKRD26 ANO6 ANOS1 ANTXR1 ANTXR2 AP1S2 AP4E1 AP5Z1 APBB2 APC APOA1 APOA5 APOB APOH APP APTX AQP1 AQP3 AQP9 AR ARFGEF2 ARHGAP26 ARHGEF10 ARHGEF12 ARHGEF6 ARHGEF9 ARL11 ARL13B ARNT ARSA ART4 ASAH1 ASL2 ASPA ASPN ASPSCR1 ASS1 ATCAY ATG16L1 ATIC ATL1 ATM ATN1 ATP1B1 ATP2A2 ATP2B2 ATP2C1 ATP6AP2 ATP6V0A2 ATP6V0A4 ATP6V0C ATP7A ATP7B ATPAF2 ATRX ATXN10 ATXN2 ATXN3 ATXN7 AURKA AVP AXIN1 AXIN2 B2M B3GALNT1 B3GLCT B4GALT1 B4GALT7 BAAT BAG3 BARD1 BBS10 BBS12 BBS2 BBS4 BBS9 BCHE BCKDHB BCL10 BCL11A BCL2 BCL6 BCL7A BCO1 BCOR BCR BCS1L BDNF BEAN1 BEST1 BFSP1 BFSP2 BLK BLM BLMH BLNK BMP15 BMP2 BMP4 BMPER BMPR1A BMPR1B BMPR2 BPGM BRAF BRCA1 BRCA2 BRIP1 BSND BTBD9 BTD BTK BUB1 BUB1B C1GALT1C1 C1QA C1QB C1QTNF5 C1R C1S C3 C3H2ORF71 C5 C6 C7 C8A C8B CA12 CA2 CA4 CA8 CACNA1C CACNA1H CACNB2 CACNB4 CALCR CAPN10 CAPN3 CARD9 CASK CASP10 CASP8 CASQ2 CASR CAV1 CAV3 CAVIN1 CBFB CBL CBS CBX2 CC2D2A CCBE1 CCDC40 CCDC6 CCL5 CCM2 CCND1 CCR2 CCR5 CCT5 CD151 CD247 CD36 CD3D CD3E CD4 CD40 CD40LG CD79B CD81 CD82 CD8A CDAN1 CDC73 CDH1 CDH23 CDHR1 CDK5RAP2 CDK6 CDKAL1 CDKL5 CDKN1B CEBPA CEL CENPJ CEP152 CEP290 CEP57 CERKL CES1L1 CETP CFH CFI CFL2 CHAT CHD7 CHEK2 CHIC2 CHMP2B CHMP4B CHN1 CHRNA1 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA7 CHRND CHRNG CHST3 CHST6 CHSY1 CHUK CIITA CILP CISD2 CISH CLCN1 CLCN5 CLCN7 CLCNKB CLDN1 CLDN14 CLDN16 CLINT1 CLN5 CLN6 CLN8 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 CNNM2 CNTN1 COA5 COCH COG1 COG4 COG5 COG7 COG8 COL11A1 COL11A2 COL17A1 COL18A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL8A2 COL9A1 COL9A3 COLQ COMP COMT COQ2 COQ8B COQ9 COX10 COX15 CP CPN1 CPOX CPS1 CPT1A CPT2 CRBN CREB1 CREBBP CRH CRTAP CRTC1 CRYAA CRYAB CRYBA1 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGS CRYM CSF1R CSF3R CSRP3 CST3 CSTB CTH CTLA4 CTNNB1 CTNS CTRC CTSA CTSC CTSD CTSZ CUBN CUL4B CX3CR1 CXCL12 CXCR4 CYB5A CYB5R3 CYBB CYLD CYP11A1 CYP19A1 CYP1C1 CYP27A1 CYP2R1 CYP4V2 CYP7B1 D2HGDH DAD1 DAO DAZL DBH DBT DCAF17 DCLRE1C DCN DCX DCXR DDB1 DDB2 DDC DDR2 DDX11 DEK DHCR24 DHCR7 DHDDS DHFR DHODH DIAPH2 DIAPH3 DICER1 DIP2B DIRC2 DKC1 DLAT DLC1 DLD DLG3 DLG5 DMD DMP1 DMRT1 DNAAF1 DNAAF2 DNAH5 DNAI2 DNASE1 DNM1L DNMT3B DOCK8 DOK7 DOLK DPAGT1 DPM1 DPP6 DPYD DPYS DRD1B DRD2 DRD3 DRD4 DSC1 DSG2 DSG4 DSP DTNA DTNBP1 DUOX2 DYM DYNC2H1 DYRK1A DYX1C1 EDAR EDARADD EDN1 EDNRA EDNRB EFEMP1 EFHC1 EFNB1 EGF EHMT1 EIF2AK3 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELAC2 ELAVL4 ELMOD2 ELOVL4 ELP1 EMG1 EMX2 ENG ENO1 ENPP1 EP300 EPAS1 EPB41 EPB42 EPCAM EPHB2 EPHX1 EPHX2 EPM2A EPX ERBB2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESPN ESR1 ESRRB ETFA ETFDH ETHE1 ETV6 EVC EVC2 EWSR1 EXT1 EXT2 EYA1 EYA4 EYS F10 F11 F13A1 F13B F2 F7 F8 F9 FA2H FAAH FADD FAH FAM126A FAM161A FAM20C FAM83H FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FAS FASTKD2 FBLN1 FBLN5 FBN1 FBN3 FBP1 FBXO33 FBXO7 FBXW4 FECH FERMT1 FGA FGB FGD4 FGF14 FGF20 FGF3 FGF8 FGF9 FGFR1 FGFR1OP FGFR2 FGFR3 FGG FH FIG4 FKBP5 FKRP FKTN FLCN FLNB FLT4 FLVCR1 FLVCR2 FMR1 FN1 FOLR1 FOXC2 FOXE3 FOXF1 FOXG1 FOXI1 FOXJ1 FOXL2 FOXN1 FOXO1 FOXP2 FOXP3 FOXRED1 FRAS1 FREM1 FREM2 FRMD7 FRZB FSCN2 FSHB FSHR FST FTCD FTH1 FUCA1 FUT6 FXN FZD4 G6PC2 GAAGSD GABBR2 GABRA1 GABRA2 GABRB3 GABRD GABRG2 GAD1 GALC GALE GALK1 GALNS GALNT12 GALNT3 GAN GARS GATA3 GATA4 GATM GBE1 GC GCG GCH1 GCLC GCLM GCNT2 GCSH GDAP1 GDF3 GDF5 GDNF GFAP GFER GFI1 GFM1 GGT1 GHR GHRHR GHSR GIF GIGYF2 GJA1 GJA3 GJA5 GJA8 GJB1 GJB6 GJC2 GK GLA GLB1 GLDC GLE1 GLI2 GLI3 GLMN GLO1 GLRA1 GLRB GLRX5 GLUD1 GLUL GLYCTK GMPS GNAI2 GNAQ GNAS GNB3 GNE GNMT GNPAT GNPTAB GNPTG GNS GOLGA5 GOSR2 GP1BA GP1BB GP9 GPC3 GPC6 GPD1L GPD2 GPHN GPI GPR143 GPSM2 GRHPR GRIA3 GRIK2 GRIN2A GRIN2B GRXCR1 GSDME GSN GSR GSS GSTZ1 GTF2H5 GUCA1A GUCA1B GUSB GYG1 GYPC GYS2 H6PD HABP2 HADH HADHA HADHB HAGH HAL HBEGF HCCS HCN4 HCRT HDAC4 HEPACAM HERC2 HESX1 HEXA HEXB HGD HGF HGSNAT HIBCH HIP1 HK1 HLCS HMBS HMGA2 HMGCL HMGCR HMGCS2 HMMR HMOX1 HMX1 HNF1A HNF4A HNMT HOGA1 HOXA11 HOXA13 HOXD10 HOXD13 HOXD4 HPD HPGD HPRT1 HPS1 HPS3 HPS4 HPS5 HPS6 HPSE2 HRAS HRG HSD11B1b HSD17B10 HSD17B4 HSF4 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HTR2A HTT HYAL1 HYLS1 ICK ICOS IDH3B IDS IDUA IFIH1 IFNAR2 IFNGR1 IFNGR2 IFNL3A IFT122 IFT80 IGF1 IGF1R IGF2 IGF2R IGFALS IHH IKZF1 IL10 IL10RA IL10RB IL12B IL17F IL17RA IL1B IL1RAPL1 IL21R IL23R IL2RG IL31RA IL6 IL7R ILDR1 IMPAD1 IMPDH2 IMPG2 INF2 ING1 INPP5E INS-IGF2 INSR INTS6 INVS IQCB1 IRAK4 IRF1 IRF4 IRF5 IRF6 IRS1 IRS2 ITCH ITGA6 ITGB2 ITGB3 ITK ITM2B ITPA ITPR1 ITPR3 IVD IYD JAG1 JAK2 JAK3 JAM3 JAZF1 JPH2 JPH3 KANK1 KARS KBTBD13 KCNA1 KCNA5 KCNE1 KCNE2 KCNE3 KCNJ1 KCNJ2 KCNJ5 KCNK18 KCNK3 KCNMA1 KCNMB1 KCNQ1 KCNQ2 KCNV2 KCTD7 KDR KEL KERA KIAA0319 KIF1BP KIF1C KIF21A KIT KITLG KL KLF11 KLF6 KLHDC8B KLHL7 KMT2A KNG1 KRAS KRIT1 KRT10 KRT12 KRT4 KRT5 KRT6A KRT75 KRT8 KYNU L2HGDH LAMA2 LAMA3 LAMB2 LAMB3 LAMC2 LAMC3 LAMP2 LARGE1 LCA5 LCORL LCT LDHA LDHB LDLRAP1 LEF1 LEMD3 LEPR LFNG LGI1 LGR4 LHCGR LHFPL5 LHX3 LIFR LIG4 LIPA LIPC LIPH LITAF LMAN1 LMBR1 LMBRD1 LMF1 LMNB1 LMNB2 LMO2 LMX1B LOC418051 LOC418667 LOC423753 LOC427439 LOC769008 LOC769704 LOC769800 LOC769804 LOC771306 LOC771413 LOC771889 LOC776371 LOXHD1 LPAR6 LPIN1 LPIN2 LPL LPP LRAT LRP2 LRP4 LRP5 LRP6 LRP8 LRPPRC LRRC8A LTBP2 LTC4S LYST LYZ LZTS1 MAD1L1 MAF MAGT1 MANBA MAP2K1 MAP2K2 MAP3K1 MAP3K8 MAPK10 MAPK8IP1 MARVELD2 MASP2 MASTL MAT1A MATN3 MATR3 MBD5 MBL2 MBTPS2 MC1R MC2R MC4R MCC MCCC1 MCEE MCFD2 MCM6 MCOLN1 MECOM MED13L MED17 MEF2A MEF2C MERTK MESP2 MET MFHAS1 MFN2 MFSD8 MGP MID1 MINPP1 MIPOL1 MITF MKKS MKL1 MKS1 MLC1 MLF1 MLH1 MLLT10 MLPH MLYCD MMAA MMAB MMACHC MMADHC MMD2 MME MMP1 MMP10 MMP13 MMP2 MMP9 MNX1 MOCS2 MPI MPL MPLKIP MRE11 MRPS16 MRPS22 MSH2 MSH3 MSH6 MSMB MSRB3 MSTN MSX1 MSX2 MTHFD1 MTHFR MTM1 MTMR14 MTMR2 MTPAP MTR MTRR MTTP MUSK MUT MUTYH MVK MXI1 MYB MYBPC3 MYC MYCN MYD88 MYF6 MYH11 MYH7 MYH9 MYL2 MYL3 MYLK MYLK2 MYO15A MYO1E MYO3A MYO5A MYO6 MYO7A MYO9B MYOC MYOT MYOZ2 NAGA NAGLU NAT8L NBN NCAM1 NCF1 NCF2 NCOA4 NCSTN NDE1 NDP NDRG1 NDUFA1 NDUFA11 NDUFA2 NDUFAF2 NDUFAF4 NDUFAF6 NDUFS1 NDUFS3 NDUFS4 NDUFS6 NDUFS8 NDUFV2 NEB NEFH NEFL NEK1 NEK8 NEUROD1 NF1 NF2 NFKBIA NGF NHEJ1 NHLRC1 NHS NIPA1 NIPAL4 NKAIN2 NKX2-1 NKX2-5 NKX2-6 NLGN4X NLRPL NME1 NME8 NOG NOS1 NOS1AP NOS2 NOTCH1 NOTCH2 NPC1 NPC2 NPHP1 NPHP3 NPHS2 NPM1 NPRL2 NPSR1 NQO2 NR0B1 NR0B2 NR2E3 NR3C1 NR3C2 NR4A2 NR4A3 NR5A1 NRAS NRG1 NRTN NRXN1 NSD1 NSD2 NSD3 NSDHL NSMF NT5C3A NT5E NTRK1 NTRK2 NUBPL NUP214 NUP62 NUP98 NYX OAT OCA2 OCRL ODC1 OFD1 OGDH OGG1 OPA1 OPHN1 OPN1MSW OPTN ORAI1 ORC1 ORC4 ORC6 OSMR OSTM1 OTC OTOA OTOF OTX2 OXCT1 P2RX1 P2RX7 P3H1 PACRG PAFAH1B1 PAH PAK3 PALB2 PALLD PAPSS2 PARK7 PAX2 PAX3 PAX5 PAX6 PAX7 PAX9 PAXIP1 PBX1 PCASP3 PCBD1 PCCA PCCB PCDH15 PCDH19 PCM1 PCNT PDCD1 PDCD10 PDE11A PDE6B PDE6C PDE6G PDE6H PDE8B PDGFB PDGFRA PDGFRB PDGFRL PDHA1 PDHB PDHX PDLIM4 PDP1 PDSS1 PDSS2 PDX1 PEPD PER2 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKL PFKM PGK1 PGM1 PHB PHEX PHF11 PHF6 PHGDH PHKA2 PHKB PHOX2B PHYH PICALM PIGA PIGM PIGN PIGR PIK3CA PIKFYVE PINK1 PIP5K1C PITPNM3 PITX1 PITX2 PJVK PKD1 PKD2 PKHD1 PKP1 PKP2 PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAG1 PLAGL1 PLAT PLAU PLCB1 PLCB2 PLEKHG5 PLEKHM1 PLG PLIN1 PLOD1 PLOD3 PLTP PML PMM2 PMP22 PMS1 PNLIP PNPLA2 POF1B POLG POLG2 POLH POLR1C POLR1D POMC POMGNT1 POMP POMT1 POMT2 PON2 POR POU1F1 POU4F3 POU6F2 PPARA PPARG PPARGC1A PPARGC1B PPIB PPM1D PPP1R17 PPP1R3A PPP2R2B PPT1 PRCC PREPL PRF1 PRG4 PRICKLE1 PRICKLE2 PRKAG2 PRKAR1A PRKCA PRKCH PRKN PRNP PROC PROK2 PROKR2 PROM1 PROS1 PROZ PRPF3 PRPF6 PRPF8 PRPH2 PRPS1 PRRX1 PRSS12 PSAP PSAT1 PSEN1 PSEN2 PSMA6 PSTPIP1 PTCH1 PTEN PTH PTH1R PTHLH PTPN1 PTPN11 PTPN12 PTPN14 PTPN22 PTPRC PTPRJ PTPRZ1 PTS PUS1 PYGL QDPR RAB23 RAB27A RAB3GAP1 RAB3GAP2 RAB7A RAC2 RAD50 RAD51 RAD51C RAD54B RAD54L RAF1 RAG1 RAG2 RAI1 RANBPL RAP1GDS1 RAPSN RARS2 RASA1 RB1 RB1CC1 RBBP8 RBM15 RBM20 RBP4A RCBTB1 RD3 RDH12 RDX RECQL4 REEP1 RELN RET RFT1 RFXANK RFXAP RGR RGS4 RGS5 RGS9 RGS9BP RHAG RIMS1 RIN2 RLBP1 RNASEH2B RNASEL RNASET2 RNF114 RNF139 RNF168 RNF213 RNF6 ROBO2 ROR2 RP2 RP9 RPE65 RPGR RPGRIP1L RPIA RPL11 RPL35A RPL5 RPS10 RPS14 RPS6KA3 RPS7 RRAS2 RRM2B RSPH4A RSPH9 RSPO1 RTN4R RUNX2 SACS SAG SALL1 SALL4 SAMHD1 SAR1B SARDH SART3 SAT1 SATB2 SBDS SBF2 SCARB1 SCARB2 SCN1A SCN2A SCN3B SCN4B SCN5A SCN8A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCP2 SCYL1BP1 SDC3 SDHA SDHAF2 SDHB SDHD SEC23A SEC23B SEC63 SECISBP2 SELE SELENON SELENOS SELP SEM1 SEMA3E SEMA7A SEPSECS SEPT9 SERPINA10 SERPINB6 SERPINC1 SERPIND1 SERPINF1 SERPINF1 SERPINH1 SERPINI1 SETBP1 SETX SFTPA2 SGCB SGCD SGCE SGCG SGSH SH3BP2 SH3GL1 SH3PXD2B SH3TC2 SHANK2 SHH SHOC2 SI SIL1 SIM1 SIX1 SIX6 SKI SLC10A2 SLC11A1 SLC12A1 SLC12A3 SLC16A1 SLC16A12 SLC16A2 SLC17A5 SLC17A8 SLC19A2 SLC19A3 SLC1A3 SLC22A18 SLC22A5 SLC24A4 SLC25A12 SLC25A13 SLC25A15 SLC25A19 SLC25A22 SLC25A3 SLC25A38 SLC25A4 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC27A4 SLC29A3 SLC2A1 SLC2A10 SLC2A2 SLC2A9 SLC30A8 SLC33A1 SLC34A1 SLC34A2 SLC35A1 SLC35C1 SLC35D1 SLC37A4 SLC39A13 SLC3A1 SLC40A1 SLC45A2 SLC46A1 SLC4A11 SLC4A4 SLC52A3 SLC5A1 SLC6A19 SLC6A2 SLC6A20 SLC6A4 SLC6A5 SLC7A7 SLC7A9 SLC9A3R1 SLC9A6 SLC9A9 SLITRK1 SLX4 SMAD3 SMAD7 SMAD9 SMARCB1 SMC3 SMO SMOC1 SMPX SMS SNAI2 SNAP29 SNCA SNCAIP SNCB SNX3 SOCS3 SOD1 SOD2 SOD3 SORL1 SOST SOX10 SOX17 SOX18 SOX2 SOX3 SOX9 SPART SPAST SPATA16 SPATA7 SPG21 SPG7 SPIA1 SPIA3 SPIK7 SPR SPRED1 SPTAN1 SPTLC1 SPTLC2 SQSTM1 SRC SRD5A2 SRD5A3 SRPX2 SS18 SSTR5 ST14 ST3GAL5 STAR STAT1 STAT3 STAT4 STAT5B STIL STK11 STRA6 STRADA STS STX11 STX16 STXBP1 SUCLG1 SUFU SURF1 SUZ12 SYCP3 SYNE1 TAB2 TACC3 TACR3 TACSTD2 TAF15 TAGAP TAL1 TAL2 TAPBP TARDBP TAT TBCE TBP TBX15 TBX19 TBX20 TBX22 TBX3 TBX4 TBX5 TBXAS1 TBXT TCF3 TCF7L2 TCIRG1 TCOF1 TDP1 TDRD7 TEAD1 TECTA TEK TERT TFAP2A TFAP2B TFG TGFB3 TGFBI TGFBR1 TGFBR2 TGIF1 TGM6 TH THAP1 THBD THBS2 THRB TIMM8A TIMP3 TIRAP TJP2 TK2 TKTL1 TLL1 TLR2A TLR2B TLR3 TLR4 TLR5 TLX1 TM7SF2 TMC1 TMC6 TMEM126A TMEM216 TMEM43 TMEM67 TMEM70 TMIE TMPO TMPRSS15 TMPRSS3 TMPRSS6 TNFRSF11A TNFRSF11B TNFRSF13B TNFRSF1A TNFRSF1A TNFSF11 TNNC1 TNNI2 TNNT2 TNNT3 TOP1 TOP2A TOR1A TP63 TPH2 TPI1 TPMT TPO TPP1 TPRN TRAF3IP2 TRAPPC2 TRAPPC9 TREM2 TRH TRHR TRIM24 TRIM33 TRIM37 TRIP11 TRMU TRPC6 TRPM1 TRPM7 TRPS1 TRPV4 TSC1 TSEN2 TSEN54 TSHB TSHR TSPAN12 TSPAN7 TTBK2 TTC19 TTC21B TTC8 TTPA TTR TUBA8B TUBB1 TUBB2B TUBB3 TULP1 TUSC3 TWNK TYR TYRP1 UBC UBE2A UBE3A UBIAD1 UBR1 UCHL1 UCP3 UGT1A8 UMPS UNC119 UNC13D UNC93B1 UNG UPB1 UQCC1 UQCRB UQCRQ UROC1 UROD UROS USB1 USF1 USH1C USH1G USH2A UTP4 VANGL1 VAPB VCAN VCL VCP VDR VEGFA VHL VIL1 VIM VIPAS39 VIPR2 VLDLR VMA21 VNN1 VPS13B VPS33B VRK1 VSX1 VSX2 VWF WASHC5 WDPCP WDR11 WDR35 WDR36 WDR72 WFS1 WISP3 WNK1 WNT10A WNT4 WNT7A WRN WT1 WWC1 WWOX XDH XIAP XK XPA XPC XPNPEP3 XRCC3 XYLT1 XYLT2 YARS YARS2 YEATS4 YWHAE ZAP70 ZBTB16 ZBTB24 ZBTB38 ZCCHC13 ZDHHC15 ZDHHC9 ZEB1 ZEB2 ZFAT ZFHX3 ZFPM2 ZFYVE26 ZFYVE27 ZMPSTE24 ZMYM2 ZNF365 ZNF513
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