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aml (0)

Cardiology (8)

• Aortic Valve Stenosis (3)
• Arrhythmogenic Right Ventricular Cardiomyopathy (1)
• Brugada Syndrome (0)
• Familial abdominal aortic aneurysm (0)
• Familial Dilated Cardiomyopathy (4)

Cholesteryl Ester Storage Disease (CESD) (1)

Dermatology (0)

• Generalized pustular psoriasis (0)
• rare lichenoid and scarring dermatoses and rare alopecias (0)

Ear Nose and Throat (0)

• Acoustic Neuroma (0)
• rare conditions affecting hearing (0)

Endocrinology (3)

• Acromegaly (1)
• Anaplastic Thyroid Cancer (1)
• Cushing's Disease (1)
• Early-onset Type 1 Diabetes (0)

Fungal Diseases (1)

Gastroenterology (1)

• Autoimmune Enteropathy (0)
• Oesophageal Varices (1)

Genetics (14)

• Activated PI3K-delta Syndrome (0)
• Alpha 1-Antitrypsin Deficiency (0)
• Arginase I Deficiency (0)
• Argininemia (0)
• Arts Syndrome (0)
• Bardet-Biedl Syndrome (0)
• Becker Muscular Dystrophy (1)
• CDKL5 Deficiency Disorder (0)
• Duchenne Muscular Dystrophy (5)
• Fabry Disease (3)
• Facioscapulohumeral Muscular Dystrophy (0)
• Gaucher Disease (1)
• Hereditary Angioedema (1)
• Hyperargininemia (0)
• Mitochondrial Diseases (0)
• Neurofibromatosis type 1 (0)
• Non-Specific Genetics (1)
• Usher Syndrome (0)
• X-Linked Hypophosphatemia (1)

Haematology (13)

• Agammaglobulinemia (0)
• Alpha-Thalassemia (0)
• Amyloidosis (2)
• Angioimmunoblastic Lymphadenopathy With Dysproteinemia (1)
• Aplastic Anemia (2)
• Beta-thalassemia (1)
• Castleman Disease (1)
• Essential Thrombocythemia (2)
• Haemophilia (1)
• Immune thrombocytopenia (1)
• Immune thrombocytopenic purpura (0)
• Milroy Disease (1)
• Myelodysplasic Syndromes (1)
• Rare Bleeding disorders (0)

Hepatology (2)

• Acute fatty liver of pregnancy (1)
• Autoimmune Hepatitis (1)
• Primary Biliary Cirrhosis (0)
• Primary Sclerosing Cholangitis (0)

Hypoparathyroidism (0)

Immune Disorders (8)

• ANCA Associated Vasculitis (4)
• Antiphospholipid Syndrome (0)
• Autoimmune Encephalitis (1)
• Autoimmune Hepatitis (0)
• Churg Strauss Syndrome (2)
• Immunoblastic lymphadenopathy (1)

Inflammatory Diseases (3)

• Giant Cell Arteritis (1)
• Juvenile Idiopathic Arthritis (2)
• Lupus (0)
• Type I interferonopathies (0)

Intellectual disabilities and developmental delay (2)

• Down syndrome (0)
• Rare Autism phenotype disorders (0)

Mental Health (0)

Muscular (1)

• Dermatomyositis (1)

Nephrology (0)

• Tuberous sclerosis (0)

Neurology (19)

• Ataxia (4)
• Autoimmune Encephalitis (0)
• Autosomal Recessive Juvenile Parkinson Disease (1)
• Bacterial Meningitis (1)
• Centronuclear Myopathy (1)
• Charcot-Marie-Tooth Disease (3)
• Epileptic Encephalopathy (0)
• Familial Alzheimer's Disease (1)
• Frontotemporal Dementia (2)
• Guillain-Barré Syndrome (0)
• Huntington's Disease (2)
• Juvenile Myoclonic Epilepsy (1)
• Late onset familial alzheimer's disease (0)
• Multiple sclerosis variant (0)
• Myoclonic epilepsy of infancy (0)
• Neurological and Immune disorders (0)
• Progressive myoclonic epilepsy (0)
• Progressive Supranuclear Palsy-Corticobasal Syndrome (1)
• Rare types of Parkinson's disease (1)
• Rett syndrome (0)
• Rolandic epilepsy (0)

Non-specific Rare disease/Undiagnosed (0)

Obstetrics (1)

• Eclampsia (1)

Oncology (64)

• Bile Duct Cancers (4)
• Brain and Spinal Cancers (5)
• Breast Cancer (2)
• Colorectal cancers (2)
• Ear Cancers (0)
• Endocrine Cancers (1)
• Eye Cancers (0)
• Gastroenterological Cancers (7)
• Gynaecological Cancer (2)
• Haematological Cancer (29)
• Head and Neck Cancer (0)
• Hepatic Cancer (1)
• Lung Cancers (1)
• mesothelioma (1)
• Neurological Cancer (0)
• Osteological Cancers (0)
• Other Cancer (2)
• Paediatric Cancers (1)
• Respiratory cancer (0)
• Skin Cancers (0)
• Tumour Disorders (0)
• Urological Cancers (3)

Ophthalmology (6)

• Acanthamoeba Keratitis (1)
• Cone Dystrophy (2)
• Inherited retinal disorder (0)
• Isolated optic neuritis (0)
• Leber Hereditary Optic Neuropathy (1)
• Opsoclonus-myoclonus syndrome (0)
• Stargardt Disease 1 (1)

Pediatrics (2)

• Ataxia (0)
• Congenital Adrenal Hyperplasia (1)
• Congenital Diaphragmatic Hernia (0)
• Congenital Thrombotic Thrombocytopenic Purpura (1)

Polycystic Ovary Syndrome (0)

Renal (4)

• C3 Glomerulopathy (2)
• Renal Cell Carcinoma (2)
• Tuberous Sclerosis Complex (0)

Respiratory (16)

• Allergic Bronchopulmonary Aspergillosis (1)
• Autoimmune Pulmonary Alveolar Proteinosis (1)
• Blastomycosis (1)
• Bronchiolitis Obliterans (2)
• Cystic Fibrosis (7)
• Idiopathic bronchiectasis (2)
• Rare non-specific (1)

Skeletal (9)

• Achondroplasia (4)
• Craniosynostosis (0)
• Crouzon Syndrome (0)
• Ehlers-Danlos syndrome (1)
• Osteogenesis imperfecta (3)

Urology (0)

• Atypical Hemolytic Uremic Syndrome (0)
• Hemolytic-uremic syndrome (0)

Vascular (1)

• Chronic Thromboembolic Pulmonary Hypertension (1)