Knowledge Hub
Conditions
Extend your learning with this encyclopaedia of resources, designed to support your understanding of genomics in medicine.
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A
- Achondroplasia Conditions
- Adrenocortical carcinoma Conditions
- Alpha-1 antitrypsin deficiency Conditions
- Alport syndrome and thin basement membrane nephropathy Conditions
- Anencephaly Conditions
- Angelman syndrome Conditions
- APOL1-mediated kidney disease Conditions
- Arrhythmogenic right ventricular cardiomyopathy Conditions
- Ataxia telangiectasia Conditions
- ATM-associated cancer risk Conditions
- Autism spectrum disorder Conditions
- Autosomal dominant polycystic kidney disease Conditions
- Autosomal recessive polycystic kidney disease Conditions
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B
- Barth syndrome Conditions
- Becker muscular dystrophy Conditions
- Beckwith-Wiedemann syndrome Conditions
- Birt-Hogg-Dubé syndrome Conditions
- Breast cancer Conditions
- Brugada syndrome Conditions
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C
- Canavan disease Conditions
- Carney complex Conditions
- Catecholaminergic polymorphic ventricular tachycardia Conditions
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Conditions
- Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies Conditions
- CHARGE syndrome Conditions
- Coarctation of the aorta Conditions
- Cohen syndrome Conditions
- Colorectal cancer Conditions
- Combined pituitary hormone deficiency Conditions
- Congenital adrenal hyperplasia Conditions
- Congenital diaphragmatic hernia Conditions
- Congenital hypogonadotropic hypogonadism Conditions
- Congenital muscular dystrophy Conditions
- Cystic fibrosis Conditions
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D
- Dent disease Conditions
- Differences in sex development Conditions
- Dihydropyrimidine dehydrogenase (DPD) deficiency Conditions
- Dilated cardiomyopathy Conditions
- Down syndrome (trisomy 21) Conditions
- Dravet syndrome Conditions
- Duchenne muscular dystrophy Conditions
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E
- Echogenic bowel Conditions
- Edwards syndrome (trisomy 18) Conditions
- Endocrine neoplasia Conditions
- Episodic ataxia Conditions
- Exomphalos Conditions
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F
- Familial adenomatous polyposis Conditions
- Familial hypercholesterolaemia Conditions
- Familial hyperparathyroidism Conditions
- Familial hypocalciuric hypercalcaemia Conditions
- Familial restrictive cardiomyopathy Conditions
- Fanconi anaemia Conditions
- Fetal megacystis Conditions
- Fetal ovarian cysts Conditions
- Fragile X syndrome Conditions
- Friedreich ataxia Conditions
- Fumarate hydratase tumour predisposition syndrome (including hereditary leiomyomatosis and renal cell cancer) Conditions
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G
- Gastric cancer Conditions
- Generalised arterial calcification of infancy Conditions
- Glucose transporter type 1 deficiency syndrome Conditions
- Gorlin syndrome Conditions
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H
- Hereditary diffuse gastric cancer syndrome (CDH1-related) Conditions
- Hereditary haemochromatosis Conditions
- Hereditary hypophosphataemic rickets Conditions
- Hereditary multiple exostoses Conditions
- Heritable TP53-related cancer syndromes Conditions
- Hirschsprung disease Conditions
- Huntington disease Conditions
- Hypertrophic cardiomyopathy Conditions
- Hypochondroplasia Conditions
- Hypoparathyroidism Conditions
- Hypophosphatasia Conditions
- Hypoplastic left heart syndrome Conditions
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L
- Leber hereditary optic neuropathy Conditions
- Legius syndrome Conditions
- Limb girdle muscular dystrophy Conditions
- Long QT syndrome Conditions
- Lung cancer Conditions
- Lynch syndrome Conditions
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M
- Marfan syndrome Conditions
- McCune-Albright syndrome Conditions
- Micrognathia Conditions
- Monogenic diabetes Conditions
- Monogenic obesity Conditions
- Multiple endocrine neoplasia type 1 Conditions
- Multiple endocrine neoplasia type 2 Conditions
- Multiple endocrine neoplasia type 4 Conditions
- MUTYH-associated polyposis Conditions
- Myotonic dystrophy Conditions
-
N
- Neurofibromatosis type 1 Conditions
- Nijmegen breakage syndrome Conditions
- Non-syndromic hearing loss Conditions
- Nuchal translucency Conditions
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P
- Inherited phaeochromocytoma and paraganglioma Conditions
- Pancreatic cancer Conditions
- Parathyroid carcinoma Conditions
- Patau syndrome (trisomy 13) Conditions
- Peutz-Jeghers syndrome Conditions
- Pituitary adenoma Conditions
- Prader-Willi syndrome Conditions
- Premature ovarian insufficiency Conditions
- Primary lymphoedema Conditions
- Progressive cardiac conduction disease Conditions
- PTEN syndrome Conditions
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R
- RASopathies Conditions
- Renal cancer Conditions
- Renal cysts and diabetes syndrome Conditions
- Repeat expansion disorders Conditions
-
S
- Short QT syndrome Conditions
- SHOX-related haploinsufficiency Conditions
- Sickle cell disease Conditions
- Silver-Russell syndrome Conditions
- Sotos syndrome Conditions
- Spinal and bulbar muscular atrophy (Kennedy disease) Conditions
- Spinal muscular atrophy Conditions
- Sudden arrhythmic death syndrome Conditions
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T
- Temple syndrome Conditions
- Tetralogy of Fallot Conditions
- Thalassaemia Conditions
- Thoracic aortic aneurysm and dissection Conditions
- Three M syndrome Conditions
- Transposition of the great arteries Conditions
- Tuberous sclerosis complex Conditions
- Tubulointerstitial kidney disease Conditions
- Turner syndrome Conditions
-
W
- When to suspect a skeletal dysplasia as a cause of short stature Conditions
- Williams syndrome Conditions