I Cell disease see Mucopolysaccharide diseases and associated diseases
Ichthyosis
Ichthyosis Vulgaris see Ichthyosis
idic (15) see Isodicentric 15
Idiopathic and Familial Pulmonary Arterial Hypertension
Idiopathic Erythroblastopenia see Diamond Blackfan syndrome
Idiopathic Hypertrophic Sub-Aortic Stenosis see Cardiomyopathies
Idiopathic Intracranial Hypertension see Benign Intracranial Hypertension
Idiopathic Juvenile Osteoporosis see Osteoporosis (Juvenile)
Idiopathic Leukoderma see Vitiligo
Idiopathic Neonatal Hepatitis see Liver disease
Idiopathic neutropenia see Neutropenia (Severe Chronic)
Idiopathic Torsion Dystonia see Dystonia
IgA Nephropathy see Glomerulonephritis
IHSS see Cardiomyopathies
ILS see Cortical malformations
Immotile Cilia syndrome see Primary Ciliary Dyskinesia
Immune (Idiopathic) Thrombocytopenic Purpura
Immunoglobulin Light Chain Deficiency see Primary Immunodeficiencies
Incomplete Androgen Insensitivity see Androgen Insensitivity syndrome
Incontinentia Pigmenti
Incontinentia Pigmenti Acromians see Hypomelanosis of Ito
Infantile Neuroaxonal Dystrophy see Metabolic diseases
Infantile Paralysis see Poliomyelitis
Infantile Spasms see West syndrome
Infectious encephalitis see Encephalitis
Infective Myositis see Muscular Dystrophy and neuromuscular disorders
Inherited Disciform Macular Degeneration see Retinitis Pigmentosa
Inosine triphosphate pyrophosphohydrolase deficiency see Purine & Pyrimidine Metabolic diseases
Insulin Dependence see Diabetes Mellitus
Intellectual disability see Learning disability
Interleukin Deficiency see Primary Immunodeficiencies
Intoeing see Lower Limb abnormalities
Intraocular Inflamation see Uveitis
Inverted Duplication 15 see Isodicentric 15
Iritis see Uveitis
Irritable Bowel syndrome
Isodicentric 15
Isolated Lissencephaly Sequence see Cortical malformations
Isolated Premature Thelarche see Premature Sexual Maturation
Isovaleric Acidaemia see Organic Acidaemia
ITD see Dystonia
Ito syndrome see Hypomelanosis of Ito
ITP see Immune (Idiopathic) Thrombocytopenic Purpura
Ivemark syndrome