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