Listing Categories

Cardiology (0)

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

Dermatology (2)

• Generalized pustular psoriasis (1)
• rare lichenoid and scarring dermatoses and rare alopecias (1)

Ear Nose and Throat (0)

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

Endocrinology (1)

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

Gastroenterology (0)

• Autoimmune Enteropathy (0)

Genetics (8)

• Activated PI3K-delta Syndrome (0)
• Alpha 1-Antitrypsin Deficiency (2)
• Arginase I Deficiency (0)
• Argininemia (0)
• Arts Syndrome (0)
• Bardet-Biedl Syndrome (0)
• Becker Muscular Dystrophy (0)
• CDKL5 Deficiency Disorder (0)
• Duchenne Muscular Dystrophy (1)
• Gaucher Disease (0)
• Hyperargininemia (0)
• Mitochondrial Diseases (1)
• Neurofibromatosis type 1 (0)
• Non-Specific Genetics (2)
• Usher Syndrome (1)

Haematology (6)

• Agammaglobulinemia (0)
• Aplastic Anemia (0)
• Beta-thalassemia (0)
• Haemophilia (0)
• Immune thrombocytopenia (1)
• Immune thrombocytopenic purpura (0)
• Milroy Disease (1)
• Myelodysplasic Syndromes (4)
• Rare Bleeding disorders (0)

Hepatology (1)

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

Immune Disorders (0)

• Antiphospholipid Syndrome (0)
• Immunoblastic lymphadenopathy (0)

Inflammatory Diseases (3)

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

Intellectual disabilities and developmental delay (3)

• Down syndrome (1)
• Rare Autism phenotype disorders (0)

Mental Health (0)

Nephrology (0)

• Tuberous sclerosis (0)

Neurology (18)

• Ataxia (3)
• Autoimmune Encephalitis (0)
• Autosomal Recessive Juvenile Parkinson Disease (0)
• Bacterial Meningitis (0)
• Behavioral Variant of Frontotemporal Dementia (0)
• Charcot-Marie-Tooth Disease (0)
• Guillain-Barré Syndrome (2)
• Huntington's Disease (5)
• Juvenile myoclonic epilepsy (0)
• Late onset familial alzheimer's disease (1)
• Multiple sclerosis variant (0)
• Myoclonic epilepsy of infancy (1)
• Neurological and Immune disorders (1)
• Progressive myoclonic epilepsy (0)
• Progressive supranuclear palsy-corticobasal syndrome (0)
• Rare types of Parkinson's disease (1)
• Rett syndrome (1)
• Rolandic epilepsy (2)

Non-specific Rare disease/Undiagnosed (2)

Oncology (50)

• Bile Duct Cancers (0)
• Brain and Spinal Cancers (5)
• Breast Cancer (3)
• Colorectal cancers (5)
• Ear Cancers (0)
• Endocrine Cancers (1)
• Eye Cancers (0)
• Gastroenterological Cancers (5)
• Gynaecological Cancer (2)
• Haematological Cancer (12)
• Head and Neck Cancer (0)
• Hepatic Cancer (0)
• Lung Cancers (1)
• mesothelioma (1)
• Neurological Cancer (0)
• Osteological Cancers (0)
• Other Cancer (2)
• Paediatric Cancers (2)
• Respiratory cancer (1)
• Skin Cancers (0)
• Tumour Disorders (1)
• Urological Cancers (6)

Ophthalmology (4)

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

Pediatrics (0)

• Ataxia (0)

Polycystic Ovary Syndrome (0)

Renal (1)

• C3 Glomerulopathy (0)
• Tuberous Sclerosis Complex (1)

Respiratory (5)

• Blastomycosis (0)
• Cystic Fibrosis (4)
• Idiopathic bronchiectasis (0)
• Rare non-specific (1)

Skeletal (6)

• Achondroplasia (3)
• Ehlers-Danlos syndrome (0)
• Osteogenesis imperfecta (3)

Urology (0)

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