| OMIM ID |
Human Disease |
| 605838 |
Baby Rattle Pelvis Dysplasia |
| 614382 |
Bacteremia, Susceptibility to, 1; BACTS1 |
| 614383 |
Bacteremia, Susceptibility to, 2; BACTS2 |
| 606174 |
Baculum, Congenital Absence of |
| 218600 |
Baller-Gerold Syndrome; BGS |
| 600348 |
Band Heterotopia of Brain |
| 251290 |
Band-Like Calcification with Simplified Gyration and Polymicrogyria; |
| 210740 |
Bangstad Syndrome |
| 109300 |
Banki Syndrome |
| 153480 |
Bannayan-Riley-Ruvalcaba Syndrome; BRRS (3 mouse models) |
| 243310 |
Baraitser-Winter Syndrome 1; BRWS1 |
| 614583 |
Baraitser-Winter Syndrome 2; BRWS2 |
| 300881 |
Baratela-Scott Syndrome |
| 209885 |
Barber-Say Syndrome |
| 209900 |
Bardet-Biedl Syndrome; BBS (9 mouse models) |
| 604571 |
Bare Lymphocyte Syndrome, Type I |
| 209920 |
Bare Lymphocyte Syndrome, Type II (2 mouse models) |
| 614266 |
Barrett Esophagus (1 mouse model) |
| 302060 |
Barth Syndrome; BTHS (4 mouse models) |
| 601678 |
Bartter Syndrome, Antenatal, Type 1 (1 mouse model) |
| 241200 |
Bartter Syndrome, Antenatal, Type 2 (1 mouse model) |
| 607364 |
Bartter Syndrome, Type 3 |
| 602522 |
Bartter Syndrome, Type 4a (2 mouse models) |
| 613090 |
Bartter Syndrome, Type 4b |
| 604451 |
Basal Cell Carcinoma, Infundibulocystic |
| 605462 |
Basal Cell Carcinoma, Susceptibility to, 1; BCC1 (1 mouse model) |
| 613058 |
Basal Cell Carcinoma, Susceptibility to, 2; BCC2 |
| 613059 |
Basal Cell Carcinoma, Susceptibility to, 3; BCC3 |
| 613061 |
Basal Cell Carcinoma, Susceptibility to, 4; BCC4 |
| 613062 |
Basal Cell Carcinoma, Susceptibility to, 5; BCC5 |
| 613063 |
Basal Cell Carcinoma, Susceptibility to, 6; BCC6 |
| 614740 |
Basal Cell Carcinoma, Susceptibility to, 7; BCC7 |
| 109400 |
Basal Cell Nevus Syndrome; BCNS (4 mouse models) |
| 213600 |
Basal Ganglia Calcification, Idiopathic, 1; IBGC1 |
| 606656 |
Basal Ganglia Calcification, Idiopathic, 2; IBGC2 |
| 614540 |
Basal Ganglia Calcification, Idiopathic, 3; IBGC3 |
| 615007 |
Basal Ganglia Calcification, Idiopathic, 4; IBGC4 |
| 114100 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
| 126700 |
Basal Laminar Drusen |
| 605827 |
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant |
| 109500 |
Basilar Impression, Primary |
| 301845 |
Bazex Syndrome; BZX |
| 151430 |
B-Cell Cll/Lymphoma 2; BCL2 |
| 109540 |
B-Cell Growth Factor; BCGF |
| 609296 |
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations |
| 123790 |
Beare-Stevenson Cutis Gyrata Syndrome; BSTVS (1 mouse model) |
| 604919 |
Becker Nevus Syndrome |
| 130650 |
Beckwith-Wiedemann Syndrome; BWS (3 mouse models) |
| 209970 |
Beemer Lethal Malformation Syndrome |
| 109600 |
Beeturia |
| 109650 |
Behcet Syndrome |
| 210000 |
Behr Syndrome |
| 169600 |
Benign Chronic Pemphigus; BCPM |
| 614592 |
Bent Bone Dysplasia Syndrome; BBDS |
| 231200 |
Bernard-Soulier Syndrome; BSS (5 mouse models) |
| 153670 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant; BSSA2 |
| 210050 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification |
| 611809 |
Bestrophinopathy, Autosomal Recessive; ARB (2 mouse models) |
| 109630 |
Beta-1-Adrenergic Receptor; ADRB1 |
| 109690 |
Beta-2-Adrenergic Receptor; ADRB2 |
| 109660 |
Beta-Amino Acids, Renal Transport Of; AABT |
| 210100 |
Beta-Aminoisobutyric Acid, Urinary Excretion of |
| 250620 |
Beta-Hydroxyisobutyryl Coa Deacylase Deficiency |
| 613985 |
Beta-Thalassemia (15 mouse models) |
| 603902 |
Beta-Thalassemia, Dominant Inclusion Body Type |
| 613161 |
Beta-Ureidopropionase Deficiency |
| 158810 |
Bethlem Myopathy (1 mouse model) |
| 210350 |
Biemond Syndrome II |
| 210370 |
Bietti Crystalline Corneoretinal Dystrophy |
| 109740 |
Bifid Nose, Autosomal Dominant |
| 210400 |
Bifid Nose, Autosomal Recessive |
| 608980 |
Bifid Nose with or without Anorectal and Renal Anomalies; BNAR |
| 613291 |
Bile Acid Malabsorption, Primary; PBAM |
| 607765 |
Bile Acid Synthesis Defect, Congenital, 1; CBAS1 |
| 235555 |
Bile Acid Synthesis Defect, Congenital, 2; CBAS2 |
| 613812 |
Bile Acid Synthesis Defect, Congenital, 3; CBAS3 |
| 214950 |
Bile Acid Synthesis Defect, Congenital, 4; CBAS4 |
| 608063 |
Bile and Pancreatic Ducts, Complete Absence of |
| 603003 |
Bile Duct Cysts |
| 210500 |
Biliary Atresia, Extrahepatic; EHBA |
| 109720 |
Biliary Cirrhosis, Primary, 1; PBC1 (1 mouse model) |
| 613007 |
Biliary Cirrhosis, Primary, 2; PBC2 |
| 613008 |
Biliary Cirrhosis, Primary, 3; PBC3 |
| 614220 |
Biliary Cirrhosis, Primary, 4; PBC4 |
| 614221 |
Biliary Cirrhosis, Primary, 5; PBC5 |
| 210550 |
Biliary Malformation with Renal Tubular Insufficiency |
| 253260 |
Biotinidase Deficiency (1 mouse model) |
| 613393 |
Birbeck Granule Deficiency |
| 605808 |
Birdshot Chorioretinopathy (1 mouse model) |
| 612292 |
Birk-Barel Mental Retardation Dysmorphism Syndrome |
| 135150 |
Birt-Hogg-Dube Syndrome; BHD (2 mouse models) |
| 613459 |
Birth Weight Quantitative Trait Locus 2; BWQTL2 |
| 222800 |
Bisphosphoglycerate Mutase Deficiency |
| 262000 |
Bjornstad Syndrome; BJS |
| 109800 |
Bladder Cancer (5 mouse models) |
| 109820 |
Bladder Diverticulum |
| 186580 |
Blau Syndrome |
| 605913 |
Bleeding Disorder, East Texas Type |
| 614201 |
Bleeding Disorder, Platelet-Type, 11; BDPLT11 |
| 605735 |
Bleeding Disorder, Platelet-Type, 12; BDPLT12 |
| 614009 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To; BDPLT13 |
| 614158 |
Bleeding Disorder, Platelet-Type, 14; BDPLT14 |
| 609821 |
Bleeding Disorder, Platelet-Type, 8; BDPLT8 |
| 614200 |
Bleeding Disorder, Platelet-Type, 9; BDPLT9 |
| 109900 |
Blepharochalasis and Double Lip |
| 110000 |
Blepharochalasis, Superior |
| 119580 |
Blepharocheilodontic Syndrome; BCDS |
| 110050 |
Blepharonasofacial Malformation Syndrome |
| 110100 |
Blepharophimosis, Ptosis, and Epicanthus Inversus; BPES (2 mouse models) |
| 604314 |
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation |
| 210745 |
Blepharophimosis with Ptosis, Syndactyly, and Short Stature |
| 110150 |
Blepharoptosis, Myopia, and Ectopia Lentis |
| 606798 |
Blepharospasm, Benign Essential |
| 614374 |
Blood Group, Chido/Rodgers System |
| 615021 |
Blood Group, Globoside System; GLOB |
| 614745 |
Blood Group, John Milton Hagen System |
| 614490 |
Blood Group, Junior System; JR |
| 210900 |
Bloom Syndrome; BLM (7 mouse models) |
| 259200 |
Blount Disease, Adolescent |
| 188700 |
Blount Disease, Infantile |
| 303700 |
Blue Cone Monochromacy; BCM |
| 211000 |
Blue Diaper Syndrome |
| 603670 |
Blue Nevi, Familial Multiple |
| 112200 |
Blue Rubber Bleb Nevus |
| 300054 |
Body Length, Mouse, Human Homolog |
| 605039 |
Bohring-Opitz Syndrome; BOPS |
| 211120 |
Bone Dysplasia, Lethal, Holmgren Type |
| 612394 |
Bone Fragility with Contractures, Arterial Rupture, and Deafness |
| 112240 |
Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features |
| 614675 |
Bone Marrow Failure, Familial; BMFF |
| 613418 |
Bone Mineral Density Quantitative Trait Locus 15; BMND15 |
| 112270 |
Bone Pain, Periodic |
| 112300 |
Book Syndrome |
| 112310 |
Boomerang Dysplasia |
| 301900 |
Borjeson-Forssman-Lehmann Syndrome; BFLS |
| 300843 |
Bornholm Eye Disease; BED |
| 211170 |
Borrone Dermatocardioskeletal Syndrome |
| 607475 |
Bothnia Retinal Dystrophy (1 mouse model) |
| 211180 |
Bowen-Conradi Syndrome; BWCNS |
| 211200 |
Bowen Syndrome of Multiple Malformations |
| 211355 |
Bowing of Long Bones, Asymmetric and Symmetric |
| 601357 |
Brachial Amelia, Cleft Lip, and Holoprosencephaly; ACLH |
| 608585 |
Brachial Palsy, Familial Congenital |
| 211380 |
Brachioskeletogenital Syndrome |
| 112370 |
Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay |
| 601353 |
Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation |
| 610023 |
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis |
| 112440 |
Brachydactyly, Combined B and E Types |
| 113450 |
Brachydactyly-Distal Symphalangism Syndrome |
| 113310 |
Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia |
| 602561 |
Brachydactyly, Intraventricular Septal Defect, and Deafness |
| 600430 |
Brachydactyly-Mental Retardation Syndrome; BDMR |
| 301940 |
Brachydactyly, Mononen Type |
| 113400 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
| 112450 |
Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction |
| 610713 |
Brachydactyly-Syndactyly Syndrome |
| 607004 |
Brachydactyly, Type A1, B; BDA1B |
| 112500 |
Brachydactyly, Type A1; BDA1 (2 mouse models) |
| 615072 |
Brachydactyly, Type A1, C; BDA1C |
| 613627 |
Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation |
| 112600 |
Brachydactyly, Type A2; BDA2 |
| 211369 |
Brachydactyly, Type A2, with Microcephaly |
| 112700 |
Brachydactyly, Type A3; BDA3 |
| 112800 |
Brachydactyly, Type A4; BDA4 |
| 112910 |
Brachydactyly, Type A6; BDA6 |
| 113000 |
Brachydactyly, Type B1; BDB1 |
| 611377 |
Brachydactyly, Type B2; BDB2 |
| 113100 |
Brachydactyly, Type C; BDC |
| 113200 |
Brachydactyly, Type D; BDD |
| 113300 |
Brachydactyly, Type E1; BDE1 |
| 613382 |
Brachydactyly, Type E2; BDE2 |
| 113301 |
Brachydactyly, Type E, with Atrial Septal Defect, Type II |
| 113470 |
Brachymesomelia-Renal Syndrome |
| 211370 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
| 113475 |
Brachymetatarsus IV |
| 113477 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
| 271530 |
Brachyolmia Type 1, Hobaek Type |
| 271630 |
Brachyolmia Type 1, Toledo Type |
| 613678 |
Brachyolmia Type 2 |
| 113500 |
Brachyolmia Type 3 |
| 612847 |
Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes (1 mouse model) |
| 609945 |
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia |
| 113480 |
Brachytelephalangy with Characteristic Facies and Kallmann Syndrome |
| 607595 |
Brain Small Vessel Disease with Hemorrhage |
| 614923 |
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency; BCKDKD |
| 301950 |
Branchial Arch Syndrome, X-Linked |
| 113600 |
Branchial Cleft Anomalies |
| 113610 |
Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia |
| 609166 |
Branchiogenic-Deafness Syndrome |
| 113620 |
Branchiooculofacial Syndrome; BOFS |
| 602588 |
Branchiootic Syndrome 1; BOS1 |
| 120502 |
Branchiootic Syndrome 2 |
| 608389 |
Branchiootic Syndrome 3; BOS3 |
| 113650 |
Branchiootorenal Syndrome 1; BOR1 (5 mouse models) |
| 610896 |
Branchiootorenal Syndrome 2; BOR2 |
| 114480 |
Breast Cancer (50 mouse models) |
| 600048 |
Breast Cancer, 11-22 Translocation-Associated; BRCATA |
| 605365 |
Breast Cancer 3; BRCA3 |
| 604370 |
Breast-Ovarian Cancer, Familial, Susceptibility to, 1; BROVCA1 |
| 612555 |
Breast-Ovarian Cancer, Familial, Susceptibility to, 2; BROVCA2 |
| 613399 |
Breast-Ovarian Cancer, Familial, Susceptibility to, 3; BROVCA3 |
| 614291 |
Breast-Ovarian Cancer, Familial, Susceptibility to, 4; BROVCA4 |
| 113700 |
Breasts and Nipples, Absence of |
| 607578 |
Breath-Holding Spells |
| 603828 |
Brittle Bone Disorder |
| 229200 |
Brittle Cornea Syndrome 1; BCS1 |
| 614170 |
Brittle Cornea Syndrome 2; BCS2 |
| 602071 |
Broad Terminal Phalanges, Familial |
| 601003 |
Brody Myopathy |
| 211400 |
Bronchiectasis with or without Elevated Sweat Chloride 1; BESC1 |
| 613021 |
Bronchiectasis with or without Elevated Sweat Chloride 2; BESC2 |
| 613071 |
Bronchiectasis with or without Elevated Sweat Chloride 3; BESC3 |
| 211450 |
Bronchomalacia |
| 605041 |
Brooke-Spiegler Syndrome; BRSS |
| 300612 |
Brooks-Wisniewski-Brown Syndrome |
| 211530 |
Brown-Vialetto-Van Laere Syndrome 1; BVVLS1 |
| 614707 |
Brown-Vialetto-Van Laere Syndrome 2; BVVLS2 |
| 259450 |
Bruck Syndrome 1; BRKS1 |
| 609220 |
Bruck Syndrome 2; BRKS2 |
| 601144 |
Brugada Syndrome 1; BRGDA1 (2 mouse models) |
| 611777 |
Brugada Syndrome 2; BRGDA2 |
| 611875 |
Brugada Syndrome 3; BRGDA3 |
| 611876 |
Brugada Syndrome 4; BRGDA4 |
| 612838 |
Brugada Syndrome 5; BRGDA5 |
| 613119 |
Brugada Syndrome 6; BRGDA6 |
| 613120 |
Brugada Syndrome 7; BRGDA7 (1 mouse model) |
| 613123 |
Brugada Syndrome 8; BRGDA8 |
| 300615 |
Brunner Syndrome (1 mouse model) |
| 600880 |
Budd-Chiari Syndrome; BDCHS |
| 211480 |
Buerger Disease |
| 607499 |
Bulimia Nervosa, Susceptibility to, 1; BULN1 |
| 610269 |
Bulimia Nervosa, Susceptibility to, 2; BULN2 |
| 302000 |
Bullous Dystrophy, Hereditary Macular Type |
| 113950 |
Bundle Branch Block, Familial Isolated Complete Right |
| 113970 |
Burkitt Lymphoma; BL (5 mouse models) |
| 608572 |
Burn-McKeown Syndrome |
| 610446 |
Buruli Ulcer, Susceptibility to |
| 166700 |
Buschke-Ollendorff Syndrome; BOS |
| 177400 |
Butyrylcholinesterase; BCHE (1 mouse model) |
| 113960 |
Butyrylesterase 1 |
Analysis Tools