All diseases

199 entries on 2 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00033 a-THAL ALPHA-THALASSEMIA 604131 - - - HBA1, HBA2 - -
00034 ACH ACHONDROPLASIA 100800 - - - FGFR3 - -
00084 ACMICD ACROMICRIC DYSPLASIA 102370 AD - - FBN1 - -
00124 ADCC ADRENOCORTICAL CARCINOMA, HEREDITARY 202300 AD - - TP53 - -
00098 AFND NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE 608068 - - - MEFV - -
00190 AIFEC AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS 616050 AD - - NLRC4 - -
00176 ARVD11 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 610476 AD;AR - - DSG2 - -
00065 AT ATAXIA-TELANGIECTASIA 208900 AR - - ATM - -
00155 ATFB3 ATRIAL FIBRILLATION, FAMILIAL, 3 607554 AD - - - - -
00032 b-THAL BETA-THALASSEMIA 613985 - - - HBB - -
00125 BCC7 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 614740 AD - - TP53 - -
00077 BCDS1 BLEPHAROCHEILODONTIC SYNDROME 1 119580 AD - - CDH1 - -
00114 BCNS1 BASAL CELL NEVUS SYNDROME 1 109400 AD - - PTCH1 - -
00079 BESC1 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 211400 AD - - CFTR - -
00055 BLAUS BLAU SYNDROME 186580 AD - - NOD2 - -
00123 BMFS5 BONE MARROW FAILURE SYNDROME 5 618165 AD - - TP53 - -
00028 BREAST CANCER BREAST CANCER 114480 AD;SMu - - ATM, BARD1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, TP53 - -
00002 BROVCA1 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 604370 AD - - BRCA1 - -
00011 BROVCA2 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 612555 AD - - BRCA2 - -
00012 BROVCA3 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 613399 - - - RAD51C - -
00013 BROVCA4 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 614291 - - - RAD51D - -
00030 CAH1 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 201910 AR - - CYP21A2 - -
00078 CBAVD VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF 277180 AR - - CFTR - -
00004 CF CYSTIC FIBROSIS 219700 AR - - CFTR - -
00164 CFC1 CARDIOFACIOCUTANEOUS SYNDROME 1 115150 AD - - BRAF - -
00137 CINCA CINCA SYNDROM 607115 AD - - NLRP3 - -
00201 CMD1DD CARDIOMYOPATHY, DILATED, 1DD 613172 - - - RBM20 - -
00129 CMD1G CARDIOMYOPATHY, DILATED, 1G 604145 AD - - TTN - -
00174 CMD1I CARDIOMYOPATHY, DILATED, 1I 604765 AD - - DES - -
00177 CMD1J CARDIOMYOPATHY, DILATED, 1J 605362 AD - - EYA4 - -
00198 CMD1O CARDIOMYOPATHY, DILATED, 1O 608569 AD - - ABCC9 - -
00154 CMH4 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 115197 AD;AR - - MYBPC3 - -
00130 CMH9 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 613765 AD - - TTN - -
00169 CMM2 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 155601 AD - - CDKN2A - -
00167 CMM3 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 609048 AD - - CDK4 - -
00185 CMT2A1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 118210 AD - - KIF1B - -
00131 CMYP5 CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY 611705 AR - - TTN - -
00126 CPP PAPILLOMA OF CHOROID PLEXUS 260500 AD - - TP53 - -
00081 CRC COLORECTAL CANCER 114500 AD - - CHEK2, TP53 - -
00160 CRCS10 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 612591 AD - - POLD1 - -
00194 CWS1 COWDEN SYNDROME 1 158350 AD - - PTEN - -
00162 DESMD DESMOID DISEASE, HEREDITARY 135290 AD - - APC - -
00138 DFNA34 DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 617772 AD - - NLRP3 - -
00031 DFNB1A DEAFNESS, AUTOSOMAL RECESSIVE 1A 220290 - - - GJB2 - -
00044 DGLBC DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME 137215 AD - - CDH1 - -
00085 ECTOL1 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 129600 AD - - FBN1 - -
00059 EDSCL2 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 130010 AD - - AEBP1, COL5A2 - -
00202 EDSCLL2 EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 618000 AR - - - - -
00173 EDSVASC EHLERS-DANLOS SYNDROME, VASCULAR TYPE 130050 AD - - COL3A1 - -
00103 ENDOMETRIAL CANCER ENDOMETRIAL CANCER 608089 AD - - MSH6 - -
00052 FANCA FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 AR - - FANCA - -
00070 FANCD1 Fanconi anemia, complementation group D1 605724 AR - - BRCA2 - -
00076 FANCJ FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054 - - - BRIP1 - -
00027 FANCN FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 - - - PALB2 - -
00118 FANCO FANCONI ANEMIA, COMPLEMENTATION GROUP O 613390 AR - - RAD51C - -
00069 FANCS FANCONI ANEMIA, COMPLEMENTATION GROUP S 617883 AR - - BRCA1 - -
00161 FAP1 FAMILIAL ADENOMATOUS POLYPOSIS 1 175100 AD - - APC - -
00049 FAP2 FAMILIAL ADENOMATOUS POLYPOSIS 2 608456 AR - - MUTYH - -
00191 FAP3 FAMILIAL ADENOMATOUS POLYPOSIS 3 616415 AD - - - - -
00139 FCAS1 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 120100 AD - - NLRP3 - -
00142 FCAS2 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 611762 AD - - NLRP12 - -
00189 FCAS4 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 616115 AD - - NLRC4 - -
00026 FD FABRY DISEASE 301500 - - - GLA - -
00147 FHBL1 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 615558 AR - - APOB - -
00148 FHCL1 HYPERCHOLESTEROLEMIA, FAMILIAL, 1 143890 AD - - LDLR - -
00146 FHCL2 HYPERCHOLESTEROLEMIA, FAMILIAL, 2 144010 AD - - APOB - -
00025 FMF FAMILIAL MEDITERRANEAN FEVER 249100 AR - - MEFV - -
00097 FMFAD FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 134610 AD - - MEFV - -
00144 FPF PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT 142680 AD - - TNFRSF1A - -
00096 FRTS4 FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 616026 AD - - HNF4A - -
00105 FSNF NEUROFIBROMATOSIS, FAMILIAL SPINAL 162210 AD - - NF1 - -
00163 GAPPS GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH 619182 AD - - APC - -
00038 GIST GASTROINTESTINAL STROMAL TUMOR 606764 AD - - KIT, SDHB - -
00192 GISTPS GIST-PLUS SYNDROME 175510 - - - PDGFRA - -
00127 GLM1 GLIOMA SUSCEPTIBILITY 1 137800 AD - - TP53 - -
00072 GLM3 GLIOMA SUSCEPTIBILITY 3 613029 AR - - BRCA2 - -
00086 GPHYSD2 GELEOPHYSIC DYSPLASIA 2 614185 AD - - FBN1 - -
00035 HCH HYPOCHONDROPLASIA 146000 - - - FGFR3 - -
00063 HHF1 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 256450 AD;AR - - ABCC8 - -
00091 HHF3 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3 602485 AD - - GCK - -
00200 HLRCC HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER 150800 AD - - FH - -
00115 HPE7 HOLOPROSENCEPHALY 7 610828 AD - - PTCH1 - -
00043 HPRCC Renal cell carcinoma, papillary, 1, familial and somatic 605074 - - - MET - -
00108 IBD1 NFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 266600 Mu - - NOD2 - -
00022 ISS SHORT STATURE, IDIOPATHIC, X-LINKED 300582 - - - SHOX - -
00156 JLNS1 JERVELL AND LANGE-NIELSEN SYNDROME - AR - - KCNQ1 - -
00104 JMML JUVENILE MYELOMONOCYTIC LEUKEMIA 607785 AD - - NF1 - -
00149 JPHT JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 AD - - SMAD4 - -
00151 JPS JUVENILE POLYPOSIS SYNDROME 174900 AD - - SMAD4 - -
00140 KEFH KERATOENDOTHELIITIS FUGAX HEREDITARIA 148200 AD - - NLRP3 - -
00109 KPD DIABETES MELLITUS, KETOSIS-PRONE 612227 AD;AR - - PAX4 - -
00067 KURIS KURY-ISIDOR SYNDROME 619762 AD - - BAP1 - -
00152 LDS3 LOEYS-DIETZ SYNDROME 3 613795 AD - - SMAD3 - -
00021 LFS1 LI-FRAUMENI SYNDROME 1 151623 AD - - TP53 - -
00080 LFS2 LI-FRAUMENI SYNDROME 2 609265 - - - CHEK2 - -
00132 LGMDR10 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 608807 AR - - TTN - -
00064 LIH HYPOGLYCEMIA, LEUCINE-INDUCED 240800 AD - - ABCC8 - -
00120 LMD LANGER MESOMELIC DYSPLASIA 249700 XL;XLR;YL - - SHOX - -
00116 LPRD1 LEOPARD SYNDROME 1 151100 AD - - PTPN11 - -
00165 LPRD3 LEOPARD SYNDROME 3 613707 - - - BRAF - -
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