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Rare Disease Database

Search Results for: I

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I Cell Disease

Also known as: GNPTA, Inclusion Cell Disease, Leroy Disease, ML Disorder, Type II, ML II, Mucolipidosis II, N-Acetylglucosamine-1-Phosphotransferase Deficiency


Also known as: Disorders of Cornification

Ichthyosis, CHILD Syndrome

Also known as: CHILD Naevus, CHILD Nevus, Congenital Hemidysplasia with Ichthyosis Erythroderma and Limb Defects, Disorders of Cornification 16, DOC 16, Unilateral Hemidysplasia Type, Unilateral Hemidysplasia Type, Unilateral Ichthyosiform Erythroderma with Ipsilateral Malformations, Limb

Ichthyosis, X Linked

Also known as: Placental Steroid Sulfatase Deficiency; STS, Recessive X-linked Ichthyosis, Steroid Sulfatase Deficiency, Steroid Sulfatase Deficiency Disease; SSDD

Immune Thrombocytopenia

Also known as: autoimmune thrombocytopenic purpura, ITP, idiopathic immune thrombocytopenia, primary immune thrombocytopenia

Immunotactoid Glomerulopathy 

Also known as: glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GIMMD), non-amyloid immunotactoid glomerulonephritis, Congo red-negative amyloidosis-like glomerulopathy

Imperforate Anus

Also known as: Anal Atresia, Anal Membrane, Anal Stenosis, Anorectal Malformations, Ectopic Anus, High Imperforate Anus, Low Imperforate Anus, Perineal Anus, Rectoperineal Fistula

Incontinentia Pigmenti

Also known as: Bloch-Siemens incontinentia pigmenti melanoblastosis cutis linearis, Bloch-Sulzberger syndrome, IP, pigmented dermatosis, Siemens-Bloch type

Ivemark Syndrome

Also known as: asplenia syndrome, asplenia with cardiovascular anomalies, bilateral right-sidedness sequence, right isomerism sequence