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Rare Disease Database

Search Results for: L

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L1 Syndrome

Also known as: HSAS, aqueductal stenosis, X-linked, L1 disease, L1 spectrum, MASA syndrome, SPG1 (X-linked complicated hereditary spastic paraplegia type 1), X-linked corpus callosum agenesis, X-linked hydrocephalus with stenosis of the aqueduct of sylvius

Laband Syndrome

Also known as: Gingival Fibromatosis, Abnormal Fingers, Nails, Nose, Ear, Splenomegaly, Zimmermann-Laband Syndrome, ZLS

LADD syndrome

Also known as: lacrimo-auriculo-dento-digital syndrome, Levy-Hollister syndrome

Langerhans Cell Histiocytosis

Also known as: LCH, histiocytosis X, eosinophilic granuloma (formerly), Letterer-Siwe disease (formerly), Hand-Schüller-Christian syndrome (formerly)

Leigh Syndrome

Also known as: classical Leigh syndrome, Leigh necrotizing encephalopathy, Leigh's disease, necrotizing encephalomyelopathy of Leigh's, SNE, subacute necrotizing encephalopathy

Lenz Microphthalmia Syndrome

Also known as: Lenz dysmorphogenetic syndrome, Lenz dysplasia, Lenz syndrome, MAA, microphthalmia or anophthalmos with associated anomalies (obsolete)


Also known as: Hansen's Disease


Also known as: Canefield Fever, Canicola Fever, Field Fever, Mud Fever, Seven Day Fever, Leptospirosis, Spirochetosis, Swineherd Disease

Lesch Nyhan Syndrome

Also known as: HGPRT deficiency, HPRT deficiency, hypoxanthine-guanine phosphoribosyl transferase deficiency, Lesch-Nyhan disease


Also known as: hereditary white matter disorders, inherited leukoencephalopathies

Leukodystrophy, Krabbe’s

Also known as: Galactocerebrosidase (GALC) Deficiency, Galactocerebroside Beta-Galactosidase Deficiency, Galactosylceramidase Deficiency, Galactosylceramide Lipidosis, Globoid Cell Leukoencephalopathy, Krabbe's Disease, Leukodystrophy, Globoid Cell, Sphingolipidosis, Krabbe's Type

Lichen Sclerosus

Also known as: lichen sclerosus et atrophicus, balanitis xerotica obliterans


Also known as: agyria, lissencephaly, type I, classic lissencephaly (LIS1)

Locked In Syndrome

Also known as: cerebromedullospinal disconnection, de-efferented state, pseudocoma

Long QT Syndrome

Also known as: Autosomal Dominant Long QT syndrome, Long QT syndrome without deafness, LQTS, Romano-Ward Long QT syndrome, RWS, Ward-Romano syndrome, Romano-Ward syndrome

Low Gamma-GT Familial Intrahepatic Cholestasis

Also known as: benign recurrent intrahepatic cholestasis types 1 and 2, BRIC1, BRIC2, PFIC1, PFIC2, PFIC 4, PFIC 5, PFIC 6, progressive familial intrahepatic cholestasis types 1 and 2

Lowe syndrome

Also known as: OCRL, oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe


Also known as: LAM, Lymphangioleimyomatosis, Lymphangioleiomatosis, Pulmonary Lymphangiomyomatosis, Sporadic Lymphangioleiomyomatosis

Lymphatic Malformations

Also known as: cavernous lymphangioma, cystic hygroma, cystic lymphangioma, lymphangioma, lymphangioma circumscriptum, lymphangiomatosis, macrocystic lymphatic malformation, microcystic lymphatic malformation

Lymphocytic Infiltrate of Jessner

Also known as: benign lymphocytic infiltrate of the skin, Jessner-Kanof lymphocytic infiltration, benign lymphocytic infiltration, Jessner disease, Jessner-Kanof syndrome, benign chronic T-cell infiltrative disease

Lymphomatoid Granulomatosis

Also known as: benign lymph angiitis and granulomatosis, malignant lymph angiitis and granulomatosis, pulmonary angiitis