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67 entries on 1 page. Showing entries 1 - 67.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00065 Ach Achromatopsia - 0 0 - - -
00056 AI Amelogenesis Imperfecta - 0 0 - - -
00047 ALS Amyotrophic Lateral Sclerosis - 0 0 - - -
00003 AO-IV Albinism Oculocutaneous type IV - 0 0 - - -
00057 ARVC Arrhythmogenic Right Ventricular Cardiomyopathy - 0 0 - - -
00004 B Brachycephaly - 0 0 - - -
00010 C-2A Cystinuria type 2A - 0 0 - - -
00011 C-2B Cystinuria type 2B - 0 0 - - -
00064 C-A Cystinuaria type-A - 0 0 - - -
00005 CA Cerebellar Ataxia - 0 0 - - -
00060 CC-A Coat Colour Agouti - 0 0 - - -
00061 CC-B Coat Colour Brown - 0 0 - - -
00066 CD Cone Degeneration - 0 0 - - -
00007 CD-sh Chondrodysplasia Disproportionate Short-Limbed - 0 0 - - -
00006 CH Cerebellar Hypoplasia - 0 0 - - -
00048 CHG Congenital Hypothyroidism with Goiter - 0 0 - - -
00008 CP Cleft Palate - 0 0 - - -
00009 CRD-1 Cone-Rod Dystrophy 1 - 0 0 - - -
00012 DM Degenerative Myelopathy - 0 0 - - -
00013 EB Epidermolysis Bullosa - 0 0 - - -
00014 Factor XI Factor XI deficiency - 0 0 - - -
00059 FS Fanconi Syndrome - 0 0 - - -
00015 GGM2-1 Gangliosidosis GM2 type 1 - 1 0 - - -
00062 Glau Glaucoma, primary open angle - 0 0 - - -
00016 H-A Haemophilia A - 0 0 - - -
00017 H-B Haemophilia B - 0 0 - - -
00019 HM Hypomyelination of the central nervous system - 0 0 - - -
00054 HN Hereditary Nephritis - 0 0 - - -
00018 HP Hyperkeratosis Palmoplantar - 0 0 - - -
00020 I Ichthyosis - 0 0 - - -
00021 IC Improper Coat - 0 0 - - -
00063 ICB Invasive Transitional Cell Carcinoma of the Bladder - 0 0 - - -
00022 ICM Intestinal Cobalamin Malabsorption - 0 0 - - -
00026 M Myotonia - 0 0 - - -
00053 M-PFK Muscle type Phosphofructiokinase - 0 0 - - -
00024 MD Muscular Dystrophy, Duchenne type - 0 0 - - -
00027 MM-1 Myotubular Myopathy 1 - 0 0 - - -
00025 MP Myopathy - 0 0 - - -
00049 MR Multifocal Retinopathy - 0 0 - - -
00023 MR1 Multidrug Resistance 1  - 0 0 - - -
00028 N Narcolepsy - 0 0 - - -
00046 NA Neurodegenerative Ataxia - 0 0 - - -
00001 NCL Neuronal ceroid lipofuscinosis - 0 0 CLN3, CLN5, CLN6, CLN8 - -
00055 NCL-1 Neuronal Ceroid Lipofuscinosis, 1 - 0 0 - - -
00035 NCL-10 Neuronal Ceroid Lipofuscinosis 10 - 1 0 - - -
00036 NCL-12 Neuronal Ceroid Lipofuscinosis 12 - 0 0 - - -
00058 NCL-2 Neuronal Ceroid Lipofuscinosis, 2 - 1 0 - - -
00031 NCL-4a Neuronal Ceroid Lipofuscinosis 4a - 1 0 - - -
00032 NCL-5 Neuronal Ceroid Lipofuscinosis 5 - 0 0 - - -
00033 NCL-6 Neuronal Ceroid Lipofuscinosis 6 - 0 0 - - -
00034 NCL-8 Neuronal Ceroid Lipofuscinosis 8 - 0 0 - - -
00067 Nep Nephritis - 0 0 - - -
00029 NP Nasal Parakeratosis - 0 0 - - -
00030 NVS Neurodegenerative Vacuolar Storage disease - 0 0 - - -
00002 OI Osteogenesis imperfecta - 1 0 SERPINH1 - -
00050 PCD Primary Ciliary Dyskineasia - 0 0 - - -
00038 PD Pituitary Dwarfism - 0 0 - - -
00037 PFS Periodic Fever Syndrome - 0 0 - - -
00039 PNP Polyneuropathy - 0 0 - - -
00052 Pompe Pompe Disiease - 0 0 - - -
00040 PRA Progressive Retinal Atrophy - 0 0 - - -
00041 RCD-2 Rod-Cone Dysplasia 2 - 0 0 - - -
00051 RFE Remitting Focal Epilepsy - 0 0 - - -
00043 SA Spinocerebellar Ataxia - 0 0 - - -
00042 SD Spinal Dysraphism - 0 0 - - -
00044 SLD Spondylocostal Dysotosis - 0 0 - - -
00045 VW Von Willebrand disease - 0 0 - - -