| Disease | Description |
|---|---|
| D00000317 | 18q-syndrome |
| D00000318 | 3q29 microdeletion syndrome |
| D00000242 | Achalasia |
| D00000229 | Achromatopsia |
| D00000147 | Acromegaly |
| D00000087 | Acute lymphoblastic leukaemia |
| D00000001 | Acute lymphocytic leukaemia |
| D00000092 | Acute myelogenous leukaemia |
| D00000093 | Acute myeloid leukaemia |
| D00000094 | Acute myelomonocytic leukaemia |
| D00000002 | Adenocarcinoma |
| D00000319 | Adrenal androgen excess |
| D00000154 | Adrenoleukodystrophy |
| D00000291 | Alagille syndrome |
| D00000293 | Albright hereditary osteodystrophy |
| D00000272 | Albuminuria |
| D00000162 | Alcoholism |
| D00000163 | Alcoholism withdrawal-induced seizures |
| D00000003 | ALK-positive diffuse large B-cell lymphoma |
| D00000193 | Alzheimer's disease |
| D00000194 | Alzheimer's disease (late onset) |
| D00000157 | Amyloidosis |
| D00000268 | Amyloidosis-related nephrotic syndrome |
| D00000079 | Anaplastic thyroid cancer |
| D00000104 | Angiomatoid fibrous histiocytoma |
| D00000175 | Anorexia nervosa |
| D00000313 | Aortic valvar stenosis |
| D00000239 | Ascending thoracic aortic aneurysms leading to type A dissections |
| D00000240 | Asthma |
| D00000068 | Astrocytoma (anaplastic) |
| D00000069 | Astrocytoma (low grade) |
| D00000251 | Atelosteogenesis type 1 |
| D00000252 | Atelosteogenesis type 3 |
| D00000320 | Athletic performance |
| D00000247 | Atopic dermatitis |
| D00000285 | Atrioventricular septal defect |
| D00000179 | Attention deficit hyperactivity disorder |
| D00000177 | Autism |
| D00000214 | Autonomic nervous system activity |
| D00000088 | B-cell chronic lymphocytic leukaemia |
| D00000243 | Barrett's oesophagus |
| D00000302 | Beckwith-Wiedemann syndrome |
| D00000170 | Bipolar disorder |
| D00000070 | Brain tumours (various) |
| D00000042 | Breast cancer |
| D00000105 | Breast carcinoma |
| D00000321 | Cancer |
| D00000303 | Cardiofaciocutaneous syndrome |
| D00000185 | Cerebellar ataxia (autosomal dominant) |
| D00000186 | Cerebellar ataxia (dominant non-episodic) |
| D00000043 | Cervical cancer |
| D00000205 | Charcot-Marie-Tooth disease type 1A |
| D00000241 | Cherubism |
| D00000089 | Childhood acute lymphoblastic leukaemia |
| D00000095 | Chronic myelogenous leukaemia |
| D00000096 | Chronic myelomonocytic leukaemia |
| D00000121 | Chronic nonspherocytic haemolytic anaemia |
| D00000058 | Clear renal cell carcinoma |
| D00000286 | Coarctation of the aorta |
| D00000164 | Cocaine dependence |
| D00000020 | Colon adenocarcinoma |
| D00000021 | Colon cancer |
| D00000109 | Colorectal adenoma |
| D00000022 | Colorectal cancer |
| D00000023 | Colorectal carcinoma |
| D00000274 | Complex atypical hyperplasia |
| D00000269 | Congenital nephrotic syndrome |
| D00000322 | Costello syndrome |
| D00000323 | CRASH syndrome |
| D00000148 | Cushing's syndrome |
| D00000149 | Cushing's syndrome (ACTH-independent) |
| D00000032 | Cutaneous malignant melanoma |
| D00000033 | Cutaneous melanoma |
| D00000156 | Cystic fibrosis |
| D00000219 | Deafness (dominant) |
| D00000034 | Desmoplastic neurotropic melanoma |
| D00000158 | Developmental regression |
| D00000139 | Diabetes mellitus |
| D00000277 | Diabetes mellitus (gestational) |
| D00000140 | Diabetes mellitus Type 1 |
| D00000142 | Diabetes mellitus Type 2 |
| D00000137 | Diabetic nephropathy |
| D00000234 | Dilated cardiomyopathy |
| D00000297 | Disseminated superficial actinic porokeratosis |
| D00000206 | Distal hereditary motor neuropathy type 2 |
| D00000292 | Duplex kidneys |
| D00000314 | Dyslexia |
| D00000192 | Dystonia parkinsonism (rapid onset) |
| D00000296 | Ehlers-Danlos syndrome |
| D00000123 | Elliptocytosis |
| D00000182 | Encephalomyopathy |
| D00000270 | End-stage renal disease |
| D00000044 | Endometrial cancer |
| D00000045 | Endometrial carcinoma |
| D00000273 | Endometriosis |
| D00000131 | Enhanced trauma-related bleeding tendency |
| D00000071 | Ependymoma |
| D00000197 | Epilepsy (autosomal dominant lateral temporal) |
| D00000198 | Epilepsy (autosomal dominant partial with auditory features) |
| D00000199 | Epilepsy (intractable) |
| D00000200 | Epilepsy (neonatal myoclonic) |
| D00000201 | Epilepsy (partial with auditory features) |
| D00000202 | Epilepsy (temporal lobe) |
| D00000047 | Epithelial ovarian carcinoma |
| D00000231 | Essential hypertension |
| D00000110 | Extracolonic tumours in familiar adenomatous polyposis |
| D00000111 | Familial adenomatous polyposis |
| D00000260 | Fibrous dysplasia |
| D00000267 | Focal segmental glomerulosclerosis |
| D00000315 | Food allergy |
| D00000253 | Frontometaphyseal dysplasia |
| D00000017 | Gastric adenocarcinoma |
| D00000244 | Gastric atrophy |
| D00000018 | Gastric cancer |
| D00000019 | Gastric carcinoma |
| D00000180 | Gilles de la Tourette syndrome |
| D00000072 | Glioblastoma |
| D00000073 | Glioblastoma multiforme |
| D00000097 | Granulocytic sarcoma of mesentery |
| D00000135 | Griscelli syndrome |
| D00000136 | Griscelli syndrome type 3 |
| D00000124 | Haemolysis |
| D00000125 | Haemolytic anaemia |
| D00000266 | Hajdu-Cheney syndrome |
| D00000036 | Head and neck squamous cell carcinoma |
| D00000220 | Hearing impairment (autosomal recessive nonsyndromic) |
| D00000221 | Hearing loss (age-related) |
| D00000222 | Hearing loss (autosomal dominant) |
| D00000223 | Hearing loss (hereditary progressive) |
| D00000025 | Hepatoblastoma |
| D00000026 | Hepatoblastular carcinoma |
| D00000027 | Hepatocellular carcinoma |
| D00000126 | Hereditary elliptocytosis |
| D00000127 | Hereditary elliptocytosis (dominant) |
| D00000207 | Hereditary motor and sensory neuropathy |
| D00000128 | Hereditary spherocytosis |
| D00000129 | Hereditary spherocytosis (dominant) |
| D00000290 | Hirschsprung's disease |
| D00000184 | Huntington's disease |
| D00000215 | Hydrocephalus |
| D00000218 | Hydrocephalus-stenosis of the aqueduct of Sylvius |
| D00000278 | Hydrops fetalis |
| D00000232 | Hypertension |
| D00000235 | Hypertrophic cardiomyopathy |
| D00000236 | Hypertrophic cardiomyopathy (familial) |
| D00000237 | Idiopathic dilated cardiomyopathy |
| D00000316 | Immunoglobulin E-mediated allergic diseases |
| D00000284 | Increased left ventricular wall thickness |
| D00000288 | Infantile hypertrophic pyloric stenosis |
| D00000289 | Infantile pyloric stenosis |
| D00000106 | Infiltrating lobular breast carcinoma |
| D00000245 | Inflammatory bowel disease |
| D00000004 | Inflammatory myofibroblastic tumour |
| D00000030 | Intraductal papillary mucinous carcinoma |
| D00000031 | Intraductal papillary mucinous neoplasm |
| D00000107 | Invasive breast carcinoma |
| D00000098 | Juvenile chronic myelogenous leukaemia |
| D00000099 | Juvenile myelomonocytic leukaemia |
| D00000216 | L1 syndrome |
| D00000258 | Larsen syndrome |
| D00000304 | Leopard syndrome |
| D00000103 | Leukaemia |
| D00000196 | Leukodystrophy |
| D00000039 | Liposarcoma (well-differentiated) |
| D00000238 | Long QT syndrome |
| D00000324 | Longevity |
| D00000005 | Low grade fibromyxoid sarcoma |
| D00000028 | Lung cancer |
| D00000029 | Lung carcinoma |
| D00000132 | Macrothrombocytopenia (autosomal dominant) |
| D00000171 | Major depressive disorder |
| D00000006 | Malignant fibrous histiocytoma |
| D00000007 | Malignant liposarcoma |
| D00000086 | Malignant lymphoma |
| D00000035 | Malignant melanoma |
| D00000038 | Malignant mesothelioma |
| D00000078 | Malignant peripheral nerve sheath tumours |
| D00000108 | Mammary ductal carcinoma |
| D00000176 | MASA syndrome |
| D00000133 | May-Hegglin anomaly |
| D00000261 | Mazabraud syndrome |
| D00000294 | McCune-Albright syndrome |
| D00000295 | McCune-Albright syndrome with precocious puberty |
| D00000074 | Medulloblastoma |
| D00000008 | Melanoma |
| D00000262 | Melnick-Needles syndrome |
| D00000115 | Meningioma |
| D00000159 | Mental retardation |
| D00000160 | Mental retardation (X-linked) |
| D00000204 | Migraine |
| D00000226 | Monosymptomatic idiopathic optic neuritis |
| D00000138 | Multiple endocrine neoplasia type I |
| D00000195 | Multiple sclerosis |
| D00000117 | Myelodysplastic syndrome |
| D00000100 | Myeloid leukaemia |
| D00000119 | Myeloproliferative disease |
| D00000134 | MYH9-related disease |
| D00000254 | Myofibrillar myopathy |
| D00000208 | Myopathy (autosomal dominant) |
| D00000209 | Myopathy (early onset distal) |
| D00000228 | Myopia |
| D00000255 | Myosin storage myopathy |
| D00000009 | Myxoid liposarcoma |
| D00000013 | Myxoid oral liposarcoma |
| D00000010 | Myxoid well-differentiated liposarcoma |
| D00000230 | Myxomatous valvular dystrophy (X-linked) |
| D00000014 | Nasopharyngeal carcinoma |
| D00000271 | Nephrogenic diabetes insipidus |
| D00000248 | Netherton syndrome |
| D00000066 | Neuroblastoma |
| D00000183 | Neurodevelopmental disorders |
| D00000298 | Neurofibromatosis type I |
| D00000299 | Neurofibromatosis-Noonan syndrome |
| D00000165 | Nicotine dependence |
| D00000085 | Non-Hodgkin's lymphoma |
| D00000048 | Nonmucinous epithelial ovarian carcinoma |
| D00000305 | Noonan syndrome |
| D00000306 | Noonan syndrome with growth hormone resistance |
| D00000307 | Noonan-like/multiple giant cell lesion syndrome |
| D00000153 | Obesity |
| D00000174 | Obsessive-compulsive disorder |
| D00000308 | Oculodentodigital dysplasia |
| D00000015 | Oesophageal squamous cell carcinoma |
| D00000075 | Oligodendroglial tumour |
| D00000067 | Oligodendroglioma (anaplastic) |
| D00000016 | Oral squamous cell carcinoma |
| D00000263 | Osteocraniostenosis (mild) |
| D00000259 | Osteoporosis |
| D00000011 | Osteosarcoma |
| D00000309 | Otopalatodigital syndrome type 1 |
| D00000310 | Otopalatodigital syndrome type 2 |
| D00000049 | Ovarian cancer |
| D00000050 | Ovarian carcinoma |
| D00000051 | Ovarian endometrioid adenocarcinoma |
| D00000052 | Ovarian endometrioid carcinoma |
| D00000053 | Ovarian endometrioid tumour |
| D00000054 | Ovarian epithelial tumour |
| D00000055 | Ovarian serous carcinoma |
| D00000101 | Paediatric acute myelocytic leukaemia |
| D00000102 | Paediatric acute myeloid leukaemia |
| D00000059 | Paediatric renal adenocarcinoma |
| D00000076 | Paediatric rhabdoid tumours |
| D00000080 | Papillary thyroid carcinoma |
| D00000084 | Parathyroid adenoma |
| D00000191 | Parkinson's disease |
| D00000287 | Patent ductus arteriosus |
| D00000155 | Pelizaeus-Merzbacher disease |
| D00000246 | Pemphigus foliaceus |
| D00000279 | Periventricular heterotopia |
| D00000280 | Periventricular heterotopia (familial) |
| D00000281 | Periventricular heterotopia with Ehlers-Danlos syndrome |
| D00000282 | Periventricular nodular heterotopia |
| D00000283 | Periventricular nodular heterotopia (X-linked bilateral) |
| D00000300 | Peutz-Jeghers syndrome |
| D00000116 | Pheochromocytoma |
| D00000113 | Pilomatricoma |
| D00000112 | Platelike osteoma cutis |
| D00000037 | Pleomorphic liposarcoma |
| D00000150 | Polycystic ovary syndrome |
| D00000090 | Precursor-B-cell acute lymphoblastic leukaemia |
| D00000276 | Preeclampsia |
| D00000151 | Premature thelarche |
| D00000181 | Primary nocturnal enuresis |
| D00000077 | Primitive neuroectodermal tumour |
| D00000227 | Progressive external ophthalmoplegia |
| D00000264 | Progressive osseous heteroplasia |
| D00000057 | Prostate cancer |
| D00000143 | Pseudohypoparathyroidism |
| D00000144 | Pseudohypoparathyroidism type 1a |
| D00000145 | Pseudohypoparathyroidism type 1b |
| D00000146 | Pseudohypoparathyroidism type 1c |
| D00000233 | Pulmonary valve stenosis |
| D00000122 | Pyruvate kinase deficiency |
| D00000024 | Rectal carcinoma |
| D00000275 | Recurrent miscarriage |
| D00000224 | Retinitis pigmentosa |
| D00000225 | Retinitis pigmentosa (autosomal dominant) |
| D00000178 | Rett syndrome |
| D00000040 | Rhabdomyosarcoma |
| D00000041 | Round cell liposarcoma |
| D00000012 | Sarcoma |
| D00000256 | Scapulo-peroneal myopathy |
| D00000169 | Schizoaffective disorder |
| D00000166 | Schizophrenia |
| D00000167 | Schizophrenia (deficit) |
| D00000168 | Schizophrenia (paranoid) |
| D00000172 | Seasonal affective disorder |
| D00000056 | Serous borderline tumour |
| D00000265 | Serpentine fibula-polycystic kidney syndrome |
| D00000141 | Severe insulin resistance |
| D00000311 | Silver-Russell syndrome |
| D00000211 | Spastic paraplegia |
| D00000187 | Spastic paraplegia (hereditary) |
| D00000188 | Spastic paraplegia (X-linked complicated) |
| D00000189 | Spastic paraplegia (X-linked) |
| D00000212 | Spastic paraplegia type 2 |
| D00000213 | Spastic paraplegia type 2 (late onset) |
| D00000130 | Spherocytic elliptocytosis |
| D00000301 | Spinal neurofibromatosis |
| D00000190 | Spinocerebellar ataxia type 14 |
| D00000114 | Spitz nevi |
| D00000257 | Spondylocarpotarsal syndrome |
| D00000120 | Sporadic desmoid tumour |
| D00000249 | Striate keratoderma |
| D00000250 | Striate palmoplantar keratoderma |
| D00000061 | Superficial papillary bladder tumour |
| D00000091 | T-cell acute lymphoblastic leukaemia |
| D00000152 | Testotoxicosis |
| D00000118 | Therapy-related myelodysplastic syndrome |
| D00000081 | Thyroid cancer |
| D00000082 | Thyroid carcinoma |
| D00000083 | Thyroid carcinoma in McCune-Albright syndrome |
| D00000210 | Thyrotoxic periodic paralysis |
| D00000062 | Transitional cell carcinoma of the bladder |
| D00000173 | Unipolar affective disorder |
| D00000063 | Urinary bladder cancer |
| D00000064 | Urothelial carcinoma |
| D00000046 | Uterine endometrioid carcinoma |
| D00000065 | Uveal melanoma |
| D00000312 | Watson syndrome |
| D00000203 | West syndrome |
| D00000161 | Williams syndrome |
| D00000060 | Wilms tumour |
| D00000217 | X-linked hydrocephalus |