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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
Subdivisions: Chanarin-Dorfman syndrome (neutral lipid storage disease), CHILD syndrome (unilateral hemidysplasia), congenital ichthyosiform erythroderma (CIE), Conradi-Hunermann syndrome (X-linked dominant chondrodysplasia punctata), Darier disease, epidermal nevi (ichthyosis hystrix, linear epidermal nevus), epidermolytic hyperkeratosis (EHK), erythrokeratodermia variabilis (EKV), Giroux-Barbeau syndrome, Hailey-Hailey disease (benign familial pemphigus), harlequin ichthyosis (harlequin fetus), ichthyosis hystrix Curth-Macklin type, ichthyosis vulgaris (ichthyosis simplex), keratosis follicularis spinulosa decalvans, KID syndrome (keratitis, ichthyosis, deafness), lamellar ichthyosis, multiple sulfatase deficiency, Netherton syndrome (ichthyosis linearis circumflexa), pachyonychia congenita, palmoplantar keratodermas (PPK), peeling skin syndrome, pityriasis rubra pilaris (PRP), Refsum's disease (phytanic acid storage disease), Rud's syndrome, Sjogren-Larsson syndrome, Tay's syndrome (trichothiodystrophy, IBIDS syndrome), X-linked ichthyosis

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

Idiopathic Nodular Panniculitis

Also known as: nodular nonsuppurative panniculitis, Pfeiffer-Weber-Christian syndrome, relapsing febrile nodular nonsuppurative panniculitis, Weber Christian Disease (so-called)

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

Infective Endocarditis

Also known as: bacterial endocarditis, IE
Subdivisions: bacterial acute endocarditis , bacterial subacute endocarditis, prosthetic valvular endocarditis (PVA)

IRF6-Related Disorders

Also known as: lip pits syndrome,
Subdivisions: popliteal pterygium syndrome, Van der Woude syndrome

Ivemark Syndrome

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