
Name | Inheritance | Category | Rare Diseases | Genes |
|---|---|---|---|---|
A53 Diffuse Large B-Cell Lymphoma A53 Diffuse Large B-Cell Lymphoma | Ot Others | ![]() Immune ![]() Blood | - - | |
Aapoaii Amyloidosis Aapoaii Amyloidosis | AD Autosomal dominant | ![]() Nephrological ![]() Bone ![]() Endocrine | APOA2 APOA2 | |
Aarskog Syndrome Aarskog Syndrome | Ot Others | ![]() Reproductive | MCF2,RABIF,PLEK,FGD5,FGD2,CDC42,TSR2,FGD1,FGD3,ARHGEF2 MCF2;RABIF;PLEK;FGD5;FGD2;CDC42;TSR2;FGD1;FGD3;ARHGEF2 | |
Aarskog-Scott Syndrome Aarskog-Scott Syndrome | AD Autosomal dominant AR Autosomal recessive XLR X-linked recessive | ![]() Neuronal | FGD4,RABIF,ARHGEF2,SNORD103A,MCF2,PLEK,GLI3,FGD1,TSR2,CDC42 FGD4;RABIF;ARHGEF2;SNORD103A;MCF2;PLEK;GLI3;FGD1;TSR2;CDC42 | |
Aase-Smith Syndrome I Aase-Smith Syndrome I | AD Autosomal dominant | ![]() Neuronal ![]() Bone | - - | |
Abacavir Allergy Abacavir Allergy | Ot Others | ![]() Immune | UGT1A7,UGT1A4,SLCO1B1,UGT1A10,IFNL3,ETV4,CYP2B6,HLA-B,VKORC1,UGT1A8 UGT1A7;UGT1A4;SLCO1B1;UGT1A10;IFNL3;ETV4;CYP2B6;HLA-B;VKORC1;UGT1A8 | |
Abcd Syndrome Abcd Syndrome | AR Autosomal recessive | ![]() Gastrointestinal ![]() Neuronal ![]() Ear | MAPT,PSEN1,APP,SNAP25,VSNL1,ACTC1,EDNRB-AS1,EDNRB,NEFL,APOE MAPT;PSEN1;APP;SNAP25;VSNL1;ACTC1;EDNRB-AS1;EDNRB;NEFL;APOE | |
Abdominal Aortic Aneurysm Abdominal Aortic Aneurysm | Ot Others | ![]() Cardiovascular ![]() Blood | SBF2-AS1,ELN,RBM33,H19,SNHG5,PVT1,SENCR,PRKG1,GAS5,XIST SBF2-AS1;ELN;RBM33;H19;SNHG5;PVT1;SENCR;PRKG1;GAS5;XIST | |
Abdominal Cystic Lymphangioma Abdominal Cystic Lymphangioma | Ot Others | ![]() Immune | - - | |
Abdominal Obesity-Metabolic Syndrome 1 Abdominal Obesity-Metabolic Syndrome 1 | AD Autosomal dominant | ![]() Endocrine ![]() Cardiovascular ![]() Blood | APOB,ACADM,HSD11B1,INSR,PPARG,MTTP,MIR33A,MIR122,INS,LPL APOB;ACADM;HSD11B1;INSR;PPARG;MTTP;MIR33A;MIR122;INS;LPL | |
Abdominal Obesity-Metabolic Syndrome 3 Abdominal Obesity-Metabolic Syndrome 3 | AD Autosomal dominant | ![]() Cardiovascular ![]() Endocrine ![]() Blood | DYRK1B,AHDC1,DYRK4,DCAF7,G6PC3,G6PC2,DYRK1A,G6PC1,BBIP1 DYRK1B;AHDC1;DYRK4;DCAF7;G6PC3;G6PC2;DYRK1A;G6PC1;BBIP1 | |
Abdominal Obesity-Metabolic Syndrome 4 Abdominal Obesity-Metabolic Syndrome 4 | AD Autosomal dominant | ![]() Cardiovascular ![]() Endocrine ![]() Blood | CELA2A CELA2A | |
Abdominal Tuberculosis Abdominal Tuberculosis | Ot Others | ![]() Gastrointestinal ![]() Immune | GPT,NOD2,IFNG,TNF,CD4,ALB,CRP,ADA,TBP,CEACAM5 GPT;NOD2;IFNG;TNF;CD4;ALB;CRP;ADA;TBP;CEACAM5 | |
Abducens Nerve Neoplasm Abducens Nerve Neoplasm | Ot Others | ![]() Neuronal | - - | |
Abducens Palsy Abducens Palsy | AD Autosomal dominant | ![]() Eye ![]() Neuronal ![]() Muscle | NT5C3A,NPIPA5,PRL,F2,ACE2,POMC,MOG,CRP,CCDC174,ACE NT5C3A;NPIPA5;PRL;F2;ACE2;POMC;MOG;CRP;CCDC174;ACE | |
Abetalipoproteinemia Abetalipoproteinemia | AR Autosomal recessive | ![]() Neuronal ![]() Eye ![]() Gastrointestinal ![]() Endocrine ![]() Blood | APOE,CETP,P4HB,LPL,LCAT,MIP,APOB,MTTP,CAD,APOA1 APOE;CETP;P4HB;LPL;LCAT;MIP;APOB;MTTP;CAD;APOA1 | |
Ablepharon-Macrostomia Syndrome Ablepharon-Macrostomia Syndrome | AD Autosomal dominant | ![]() Neuronal ![]() Eye | SOX2,LINC01107,POMGNT1,OCRL,FKRP,LARGE1,POMT1,TWIST2,PAX6,FKTN SOX2;LINC01107;POMGNT1;OCRL;FKRP;LARGE1;POMT1;TWIST2;PAX6;FKTN | |
Abnormal Hair, Joint Laxity, and Developmental Delay Abnormal Hair, Joint Laxity, and Developmental Delay | AR Autosomal recessive | ![]() Skin ![]() Neuronal ![]() Mental | HEPHL1 HEPHL1 | |
Abnormal Number of Coronary Ostia Abnormal Number of Coronary Ostia | Ot Others | ![]() Cardiovascular | - - | |
Abnormal Origin of the Pulmonary Artery Abnormal Origin of the Pulmonary Artery | Ot Others | ![]() Cardiovascular ![]() Respiratory | - - |