All diseases

259 entries on 3 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00111 ACRDYS1 Acrodysostosis 1, with or without hormone resistance 101800 - 0 0 PRKAR1A - -
00150 ADCC Adrenocortical carcinoma, pediatric 202300 - 0 0 TP53 - -
00230 ADNM Adenoma - - 20 26 - - -
00190 AGCa Adrenal Gland Cancer - - 7 7 - adrenal gland -
00176 ALL Acute Lymphoblastic Leukemia 613065 - 5 3 - - -
00033 AML Acute Myeloid Leukemia 601626 - 5 5 CEBPA, GATA2, KIT, NSD1, RUNX1 bone marrow -
00256 AngFib Angiofibromas - - 0 0 - - -
00225 AoVCa Ampulla of Vater cancer - - 2 2 - - -
00099 AplAn Aplastic anemia 609135 - 0 0 NBN, PRF1, SBDS - -
00215 AppCa Appendiceal cancer - - 3 3 - - -
00005 AT Ataxia-Telangiectasia 208900 - 0 0 ATM - -
00210 BBT Benign brain tumor - - 24 27 - - -
00156 BCC7 Basal cell carcinoma 7 614740 - 1 0 TP53 - -
00025 BCDS1 Blepharocheilodontic syndrome 1 119580 - 0 0 CDH1 - -
00115 BCNS Basal cell nevus syndrome 109400 - 0 0 PTCH1, SUFU - -
00125 BGS Baller-Gerold syndrome 218600 - 0 0 RECQL4 - -
00074 BHD Birt-Hogg-Dube syndrome 135150 - 0 0 FLCN - -
00227 BKT Benign kidney tumor - - 6 6 - - -
00180 BladCa Bladder Cancer 109800 - 22 19 - urinary bladder -
00007 BLM Bloom Syndrome 210900 - 0 0 BLM - -
00222 BloodCa Blood Cancer - - 3 4 - - -
00151 BMFS5 Bone marrow failure syndrome 5 618165 - 0 0 TP53 - -
00249 BonMal Bone malformation - - 1 1 - - -
00191 BrainCa Brain Cancer - - 20 20 - brain -
00001 BrCa Breast Cancer 114480 - 3970 4408 ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NTHL1, PALB2, RAD51C, RAD51D, TP53 breast -
00010 BROVCA1 Breast-ovarian cancer, familial, 1 604370 - 0 0 BRCA1 breast;ovary -
00014 BROVCA2 Breast-ovarian cancer, familial, 2 612555 - 0 0 BRCA2 breast;ovary -
00122 BROVCA3 Breast-ovarian cancer, familial, susceptibility to, 3 613399 - 0 15 RAD51C - -
00123 BROVCA4 Breast-ovarian cancer, familial, susceptibility to, 4 614291 - 0 0 RAD51D - -
00035 BRSS Brooke-Spiegler syndrome 605041 - 0 0 CYLD - -
00028 BWS Beckwith-Wiedemann syndrome 130650 - 0 0 CDKN1C - -
00221 CAL Café au Lait spots - - 21 22 - - -
00173 CC Cervical cancer 603956 - 13 10 - cervix, uterine -
00106 CCHS Central hypoventilation syndrome 209880 - 0 0 PHOX2B, RET - -
00026 CDH1 Gastric cancer, familial diffuse, with or without cleft lip and/or palate 137215 - 0 0 CDH1 stomach -
00203 CerPol Cervical Polyps - - 1 1 - - -
00193 CHL Classic Hodgkin's Lymphoma 236000 - 8 7 - - -
00196 CHLC Cholangiocarcinoma 615619 - 1 1 - - -
00056 ChonSar Chondrosarcoma 215300 - 0 0 EXT1 - -
00032 CMM2 Melanoma, cutaneous malignant, 2 155601 - 6 6 CDKN2A skin -
00027 CMM3 Melanoma, cutaneous malignant, 3 609048 - 19 20 CDK4 skin -
00112 CNC1 Carney complex, type 1 160980 - 0 0 PRKAR1A - -
00229 CNST Central Nervous System Tumor - - 0 0 - - -
00047 COFS2 Cerebrooculofacioskeletal syndrome 2 610756 - 0 0 ERCC2 - -
00054 COFS3 Cerebrooculofacioskeletal syndrome 3 616570 - 0 0 ERCC5 - -
00199 ColPol Colon polyps - - 134 140 - - -
00152 CPP Choroid plexus papilloma 260500 - 0 0 TP53 - -
00153 CRC Colorectal cancer 114500 - 230 239 TP53 - -
00228 CS Carcinosarcoma - - 1 1 - - -
00144 CSS3 Coffin-Siris syndrome 3 614608 - 0 0 SMARCB1 - -
00083 CSTLO Congenital myopathy with excess of muscle spindles 218040 - 0 0 HRAS - -
00205 CUP Cancer of Unknown Primary - - 6 5 - - -
00117 CWS1 Cowden syndrome 1 158350 - 6 6 PTEN - -
00164 DDS Denys-Drash syndrome 194080 - 0 0 WT1 - -
00250 DesCa Desmoid Cancer - - 1 1 - - -
00089 DFNB97 Deafness, autosomal recessive 97 616705 - 0 0 MET - -
00174 DFS Dermatofibrosarcoma protuberans 607907 - 1 1 - skin -
00046 DIAR5 Diarrhea 5, with tufting enteropathy, congenital 613217 - 0 0 EPCAM - -
00242 DuoCa Duodenal Cancer - - 4 4 - - -
00254 Dys Dysplasia - - 0 0 - - -
00161 ECYT2 Erythrocytosis, familial, 2 263400 - 0 0 VHL - -
00076 EmbS Emberger syndrome 614038 - 0 0 GATA2 - -
00097 ENC Endometrial cancer, familial 608089 - 102 101 MSH6 - -
00182 ENDO Endometriosis 131200 - 1 1 - - -
00204 EnPol Endometrial polyps - - 20 13 - - -
00212 Epend Ependymoma - - 1 1 - - -
00188 EsCa Esophageal Cancer 133239 - 1 1 - esophagus -
00057 EXT1 Exostoses, multiple, type 1 133700 - 0 0 EXT1 - -
00059 EXT2 Exostoses, multiple, type 2 133701 - 0 0 EXT2 - -
00232 F Fibromas - - 4 4 - - -
00061 FANCA Fanconi anemia, complementation group A 227650 - 1 1 FANCA - -
00062 FANCB Fanconi anemia, complementation group B 300514 - 0 0 FANCB - -
00063 FANCC Fanconi anemia, complementation group C 227645 - 0 0 FANCC - -
00012 FANCD1 Fanconi anemia, complementation group D1 605724 - 0 0 BRCA2 - -
00064 FANCD2 Fanconi anemia, complementation group D2 227646 - 0 0 FANCD2 - -
00065 FANCE Fanconi anemia, complementation group E 600901 - 0 0 FANCE - -
00066 FANCF Fanconi anemia, complementation group F 603467 - 0 0 FANCF - -
00067 FANCG Fanconi anemia, complementation group G 614082 - 0 0 FANCG - -
00068 FANCI Fanconi anemia, complementation group I 609053 - 0 0 FANCI - -
00019 FANCJ Fanconi anemia, complementation group J 609054 - 0 0 BRIP1 - -
00069 FANCL Fanconi anemia, complementation group L 614083 - 0 0 FANCL - -
00104 FANCN Fanconi anemia, complementation group N 610832 - 0 0 PALB2 - -
00121 FANCO Fanconi anemia, complementation group O 613390 - 0 0 RAD51C - -
00141 FANCP Fanconi anemia, complementation group P 613951 - 0 0 SLX4 - -
00052 FANCQ Fanconi anemia, complementation group Q 615272 - 0 0 ERCC4 - -
00009 FANCS Fanconi anemia, complementation group S 617883 - 0 0 BRCA1 - -
00004 FAP1 Familial Adenomatous Polyposis 1 175100 - 0 0 APC brain;colon;rectum -
00098 FAP2 Familial Adenomatous Polyposis 2 608456 - 0 0 MUTYH - -
00170 FAP3 Familial adenomatous polyposis 3 616415 - 0 0 NTHL1 - -
00036 FCyl Cylindromatosis, familial 132700 - 0 0 CYLD - -
00109 FHL2 Hemophagocytic lymphohistiocytosis, familial, 2 603553 - 0 0 PRF1 - -
00244 FibFol Fibrofolliculomas - - 4 4 - - -
00186 FM-SR Fibromyxoid Sarcoma - - 1 1 - - -
00120 FMNG Meningioma, familial, susceptibility to 607174 - 0 0 PTEN, SUFU - -
00072 FMRD Fumarase deficiency 606812 - 0 0 FH - -
00133 FPDMM Platelet disorder, familial, with associated myeloid malignancy 601399 - 0 0 RUNX1 - -
00165 FRSR Frasier syndrome 136680 - 0 0 WT1 - -
00202 GaPol Gastric Polyps - - 20 14 - - -
00200 GC Gastric Cancer - - 42 42 - - -
00084 GIST Gastrointestinal stromal tumor 606764 - 7 7 KIT, SDHB, SDHC - -
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