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86 entries on 1 page. Showing entries 1 - 86.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00146 - Cerebral Supratentorial Ependymomas - - 1 1 TP53 brain -
00100 - Class III Malocclusion - AD 1 1 DUSP6 - -
00096 - Autoinflammatory disorder - - 1 1 NLRC4 - -
00137 - Keloid Scar - - 1 1 SMAD4, TGFB1 - -
00087 - Pompe's Disease 232300 AR 2 2 GAA - -
00157 - Sandhoff Disease 268800 AR 2 2 HEXB - -
00023 - Gliomas - - 7 3 IDH1, PTEN, TP53 brain -
00061 - Epilepsy - - 16 3 RORA, RORB, SCN2A, SCN2B - -
00021 - Breast cancer 114480 AD;SMu 17 7 CCL2, CHEK2, CYP2D6, ERCC2, IL16, MCM3AP, TP53, VEGFA, XPC breast -
00041 - Hypodontia - - 10 5 PAX9 - -
00116 ANEC Acute Necrotizing Encephalopathy of Childhood 608033 AD 3 3 RANBP2 - -
00082 ARCI autosomal recessive congenital ichthyosis - AR 7 7 ABCA12, ALOX12B, TGM1 - -
00154 ATRX Alpha-thalassemia Mental Retardation Syndrome 301040 XLD 2 2 ATRX - -
00030 BD Biotinidase deficiency - - 1 1 BTD - -
00104 BLAUS Blau Syndrome 186580 AD 4 4 NOD2 - -
00144 BPAN Beta-propeller Protein-associated Neurodegeneration 300894 XLD 1 1 WDR45 brain -
00001 BRCA1 Breast Cancer 1 gene 113705 - 23 7 BRCA1 breast -
00002 BRCA2 Breast Cancer 2 gene 600185 - 14 4 BRCA2 breast -
00024 CADASIL Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - - 6 5 NOTCH3 - -
00112 CAH Congenital Adrenal Hyperplasia 201910 AR 1 1 CYP21A2 - -
00099 CDG-1a Congenital Disorder of Glycosylation type 1a 212065 AR 1 1 PMM2 - -
00133 CDLS Cornelia de Lange syndrome 122470 AD 1 1 - - -
00089 CH Congenital hypothyroidism - - 20 2 FOXE1, TPO, TSHR - -
00161 CHARGE CHARGE Syndrome 214800 AD 1 1 CHD7 eyes;ears;heart muscle -
00120 CHD Congenital Heart Disease - - 1 1 GATA4 heart muscle -
00151 CHILD Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects Syndrome 308050 XLD 1 1 NSDHL - -
00092 CIPA Congenital insensitivity to pain with anhydrosis 256800 - 2 2 NTRK1 - -
00051 CKD Chronic kidney disease - - 1 1 AGER kidney -
00149 CMS Congenital Myasthenic Syndrome 254210 AR 2 2 CHAT - -
00080 CMT Charcot-Marie-Tooth disease - - 4 3 AHNAK2, GJB1, MPZ - -
00038 CPS1D carbamoylphosphate synthetase I deficiency - - 2 2 CPS1 - -
00028 CRC colorectal , cancer - - 22 13 ANKDD1B, ATM, BRAF, CCDC144NL, CDK11B, CENPM, CLDN5, GOLGA8R, MAFA, MAGEB16, MAP3K14, MS4A12, MUC19, MUC6, NFKBIA, OR51Q1, OR5AR1, PKD1L3, PRIM2, PRM3, 3 more - -
00140 CVID3 Common Variable Immunodeficiency 3 613493 AR 1 1 CD19 - -
00118 DEBP Dystrophic Epidermolysis Bullosa Pruriginosa 604129 AD;AR 1 1 COL7A1 skin -
00126 DEND Developmental Delay, Epilepsy and Neonatal Diabetes Syndrome - - 1 1 KCNJ11 - -
00139 DKC Dyskeratosis Congenita 305000 XLR 2 2 DKC1 - -
00064 DMD Duchenne muscular dystrophy - - 7 9 - - -
00128 DPD Dihydropyrimidine Dehydrogenase Deficiency 274270 AR 2 2 DPYD - -
00160 DRTA Recessive Distal Renal Tubular Acidosis 611590 AR 2 2 SLC4A1 - -
00042 DS Down Syndrome 190685 IC 2 2 GATA1 - -
00081 EOAD Early Onset Alzheimer disease - AD 5 5 PRNP, PSEN1 brain -
00119 EPVB6D Early Onset Epilepsy, Vitamin B6-dependent 617290 AR 2 2 PLPBP - -
00015 F9 Haemophilia B 300746 - 6 3 F9 - -
00132 FBP1D Fructose-1,6-bisphosphatase Deficiency 229700 AR 7 7 FBP1 - -
00031 FH Familial hypercholesterolemia - - 23 14 ABCG8, APOB, LDLR, LDLRAP1, PCSK9 - -
00014 G6PD G6PD deficiency 305900 - 15 4 G6PD - -
00029 GA1 Glutaric aciduria type 1 - - 2 2 GCDH - -
00062 GCE Glycine encephalopathy/nonketotic hyperglycinemia - - 9 9 AMT, GLDC - -
00035 GEFS+ generalized epilepsy with febrile seizures plus - - 2 1 SCN1A - -
00142 GS Griscelli Syndrome 607624 AR 1 1 RAB27A - -
00036 GSD III Glycogen storage disease type III - - 5 5 AGL - -
00012 HBB Beta-thalassaemia 141900 - 129 66 HBB - -
00022 HGSOC high grade serous ovarian cancer - - 12 1 EGFR, FGFR3, KDR, KIT, MET, RET, SMO, STK11 - -
00005 HNPCC Lynch syndrome 609309 AD 7 1 MSH2, MSX1, PMS2 colon -
00091 HP Hereditary Pancreatitis 167800 - 3 2 PRSS1 pancreas -
00148 HS Histiocytosis Lymphadenopathy Plus Syndrome 602782 AR 1 1 - - -
00115 INAD Infantile Neuroaxonal Dystrophy 256600 AR 2 2 PLA2G6 - -
00052 JOAG juvenile-onset open angle glaucoma - - 2 1 MYOC - -
00007 KRAS Colorectal cancer (Kras) 190070 - 8 4 KRAS colon -
00159 LNS Lesch–Nyhan Syndrome 300322 XLR 4 3 HPRT1 - -
00147 LS Leigh Syndrome 256000 AR 1 1 SURF1 - -
00004 MEN1 Multiple Endocrine Neoplasia 613733 - 2 1 MEN1 - -
00121 MIA Multiple Intestinal Atresias 243150 AR 1 1 TTC7A - -
00131 MNGIE Mitochondrial Neurogastrointestinal Encephalomyopathy 603041 AR 6 3 TYMP - -
00032 MPS IVA Mucopolysaccharidosis IVA - - 1 1 GALNS - -
00034 MSUD maple syrup urine disease - - 10 9 BCKDHA, BCKDHB, DBT - -
00095 MWS Mowat-Wilson Syndrome 235730 - 1 1 ZEB2 - -
00129 NICCD Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency 605814 AR 11 11 SLC25A13 - -
00040 NSHL non-syndromic hearing loss - - 8 1 GJB2, GJB6 - -
00027 OI Osteogenesis imperfecta - - 2 2 COL1A1, COL1A2 - -
00025 OTCD Ornithine transcarbamylase deficiency - - 2 2 OTC - -
00018 PALB2 Partner And Localizer Of BRCA2 - - 5 4 PALB2 - -
00039 PD Parkinson’s disease - - 13 7 DRD1, GBA, GRIN2B, PINK1, PRKN - -
00108 PDS Pendred syndrome 274600 AR 2 2 DUOX2, GJB2, SCARB2, SLC26A4 ears -
00134 PID Primary immunodeficiency diseases - - 3 2 ADAM28, CD19, CD27, CD86, CR2, CTLA4, FANCA, LRBA, SDK1, STXBP2 - -
00019 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide - - 1 1 PIK3CA - -
00155 PMD Pelizaeus-Merzbacher Disease 312080 XLR 1 1 PLP1 - -
00165 SCD Sickle Cell Anemia 603903 AR 1 1 HBB - -
00130 SSADHD Succinic Semialdehyde Dehydrogenase Deficiency 271980 AR 1 1 ALDH5A1 - -
00078 THES trichohepatoenteric syndrome 222470 AR 2 2 SKIV2L, TTC37 - -
00037 TSC Tuberous sclerosis complex - - 6 6 TSC1, TSC2 - -
00138 TSD Tay-Sach Disease 272800 AR 1 1 HEXA - -
00098 WAS Wiskott-Aldrich Syndrome 301000 XLR 3 2 WAS - -
00141 X-CGD X-linked Chronic Granulomatous Disease 306400 XLR 2 2 CYBB, NCF1 - -
00076 XLA X-linked agammaglobulinemia 300755 XLR 6 4 BTK - -
00017 α-thalassaemia Alpha thalassaemia - - 49 46 HBA1, HBA2 - -
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