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48 entries on 1 page. Showing entries 1 - 48.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00038 - Obesity 601665 0 0 - - -
00046 ALS1 Amyotrophic Lateral Sclerosis 1 105400 0 0 - - -
00007 ATS Alport syndrome 301050 0 0 COL4A3, COL4A5 - -
00025 BOR1 Branchiootorenal Syndrome 1 113650 0 0 EYA1 ears;bronchus;kidney hypoplastic or absent kidneys with resultant renal insufficiency/failure, cysts/fistulae along the sides of the neck, preauricular tags
00021 BROVCA2 Breast-ovarian cancer, familial, 2 612555 0 0 BRCA1, BRCA2 - -
00018 CAH Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficency 201910 0 0 CYP21A2 - vomiting due to salt-wasting leading to dehydration, ambiguous genitalia in some females, early pubic hair and rapid childhood growth, precocious puberty or failure of puberty to occur, undervirilisation in XY males
00004 CF Cystic fibrosis 219700 0 0 CFTR - salty-tasting skin, poor growth, poor weight gain, accumulation of thick mucus, frequent chest infections, coughing, shortness of breath, infertility in males due to congenital absence of the vas deferens, bowel obstruction, exocrine pancreatic insufficiency
00008 CFHR5D Complement factor H-related protein 5 (CFHR5) nephropathy 608593 0 0 CFHR5 - -
00012 CMT2A1 Charcot-Marie-Tooth (CMT) disease - demyelinating 118200 0 0 GJB1, MPZ, PMP22 - foot drop, hammer toe (curled toes), "stork leg" appearance due to wasting of muscle tissue of the lower parts of the legs, weakness in arms and forearms, loss of touch sensation in arms and legs, pes cavus/pes planus
00042 CMT2A1 Charcot-Marie-Tooth (CMT) disease - axonal 118210 0 0 MFN2 - foot drop, hammer toe (curled toes), "stork leg" appearance due to wasting of muscle tissue of the lower parts of the legs, weakness in arms and forearms, loss of touch sensation in arms and legs, pes cavus/pes planus
00009 CSNU Cystinuria 220100 0 0 SLC3A1 - haematuria, flank plain, renal colic, obstructive uropathy, urinary tract infections
00020 DFNB1A DFNB1 nonsyndromic hearing loss and deafness 220290 0 0 GJB2 - -
00045 DM1 Myotonic Dystrophy 160900 0 0 - - -
00041 DMD Duchenne muscular dystrophy 310200 0 0 - - -
00024 dRTA Distal Renal Tubular Acidosis 611590 0 0 SLC4A1 - acidemia, hypokalaemia, urinary stone formation, nephrocalcinosis, bone demineralisation
00028 EE Ethylmalonic encephalopathy 602473 0 0 ETHE1 - chronic diarrhoea, petechiae, seizures, hypotonia, abnormal movements, acrocyanosis
00013 FAP Familial amyloid polyneuropathy 105210 0 0 APCS, C1QA, C1QC, TTR - numbness - tingling and pins and needles in hands and feet, weakness and pain in the arms and legs, loss of sensation, kidney failure, protein loss in urine, blurred vision, blindness, postural hypotension, disturbed bowel function - alternating diarrhoea and constripation, urinary retention, impotence, reduced sweating, cardiac arrhythmia
00022 FAP1 Familial Adenomatous Polyposis 175100 0 0 APC colon benign adenomatous polyps in the large intestine epithelium which, if left untreated, become malignant leading to colon cancer
00017 FH Familial Hypercholesterolemia 143890 0 0 LDLR - accelerated deposition of cholesterol in the walls of arteries leads to atherosclerosis, the underlying cause of cardiovascular disease, coronary heart disease at a young age, skin xanthomas (yellow spots)
00031 FMTC Familial Medullary Thyroid Carcinoma 171400 0 0 RET - -
00011 FRDA Friedreich Ataxia 229300 0 0 FXN - muscle weakness in arms and legs, loss of coordination, vision impairment, hearing impairment, slurred speech, scoliosis, pes cavus foot deformity, diabetes, heart disorders
00027 FXS Fragile X syndrome 300624 0 0 FMR1 - intellectural disability (milder in women), elongated face, large/protruding ears, flat feet, macroorchidism, low muscle tone, hyperactivity, features of autism
00016 G6PDD Glucose-6-phosphate dehydrogenase deficiency 300908 0 0 G6PD - predisposes to haemolysis and resultant jaundice
00015 GM1G GM1-Gangliosidosis 230500 0 0 GLB1 - early infantile type: most severe, with neurodegeneration, seizures, hepatomegaly, splenomegaly, coarsening of facial features (skeletal deformities) late infantile type: ataxia, seizures, dementia, speech difficulties adult type: muscle atrophy, less severe and slower occurring neurological complications, dystonia
00026 HD Huntington's disease 143100 0 0 HTT - neurological and psychiatric symptoms
00032 HH Hereditary Hemochromatosis 235200 0 0 HFE - cirrhosis of the liver, diabetes, cardiomyopathy, arthritis, testicular failure, bronzing of the skin, joint/bone pain
00043 HNPP Hereditary neuropathy with liability to pressure palsies 162500 0 0 - - -
00033 HPFH Hereditary Persistence of Fetal Hemoglobin 141749 0 0 HBB - -
00040 IGHD1A Growth hormone deficiency, type IA 262400 0 0 - - -
00023 MCKD1 Medullary cystic kidney disease 1 174000 0 0 MUC1 - -
00005 MEFV Mediterranean fever 608107 0 0 MEFV - -
00037 MEN2B Multiple endocrine neoplasia type 2A/2B 162300 0 0 - - -
00036 MIDD Maternally inherited diabetes-deafness 520000 0 0 - - -
00039 MODY1 Maturity onset diabetes of the young, type 1 125850 0 0 - - -
00048 MS Multiple Sclerosis 126200 0 0 - - -
00030 ND Norrie disease 310600 0 0 NDP eyes leukocoria, cataract formation, deterioration of iris, eye pain, cognitive and behavioural symptoms, sensorineural deafness
00034 NPHP1 Nephronophthisis 1 256100 0 0 - - -
00047 PD Parkinson Disease 168600 0 0 - - -
00006 PKD2 Polycystic Kidney Disease 613095 0 0 PKD2 - high blood pressure, headaches, abdominal pain, pain in the back, cyst formation, blood in urine, excessive urination
00029 PKU Phenylketonuria 261600 0 0 PAH - Increased blood phenylalanine levels, leading to intellectual disability, brain function abnormalities, microcephaly, mood disorders, irregular motor functioning and behavioural problems such as ADHD
00019 PPSH Pseudovaginal perineoscrotal hypospadias 264600 0 0 SRD5A2 - -
00010 RTA Renal Tubular Acidosis 267300 0 0 ATP6V1B1, SLC4A1 - Death in infancy, failure to thrive, rickets, nephrocalcinosis, nephrolithiasis, and episodes of hypokalemic paralysis
00002 SCD Sickle Cell Disease 603903 0 0 HBB - -
00014 SD Sandhoff disease 268800 0 0 HEXB - classic infantile type: most severe and extremely hard to diagnose, with muscle/motor weakness and the loss of ability to sit up or crawl, sharp reaction to loud noises, blindness, deafness, inability to react to stimulants juvenile type:less severe, rarer, cognitive impairment, loss of muscle coordination and the ability to walk, red spots in the retina adult type: milder form, with muscle weakness impairing walking and the ability to get out of bed
00044 SMA1 Spinal muscular atrophy, type 1 253300 0 0 - - -
00049 TSD Tay-Sachs Disease 272800 0 0 HEXA brain red spot on retina of the eye, excessive startling by noises and movement, cognitive and motor skill deterioration, increasing muscle weakness that progresses to paralysis, increasing loss of vision, loss of hearing, dysphagia, spasticity, lack of interest in the world around them, seizures
00003 α-thal α-thalassemia 604131 0 0 HBA1, HBA2 liver;spleen;kidney;bone marrow -
00001 β-Thal β-thalassaemia 613985 2 1 HBB liver;spleen;kidney;bone marrow -