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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 (formerly), eosinophilic granuloma (formerly), Letterer-Siwe disease (formerly), Hand-Schüller-Christian syndrome (formerly)

Large Granular Lymphocyte Leukemia

Also known as: LGLL, large granular lymphocytic leukemia, LGL leukemia
Subdivisions: T-cell (T) LGL leukemia, chronic natural killer cell (NK)-LGL leukemia, aggressive NK-LGL leukemia

Laryngeal Dystonia

Also known as: LD, SD, spasmodic dysphonia, spastic dysphonia
Subdivisions: abductor laryngeal dystonia, adductor laryngeal dystonia

Leigh Syndrome

Also known as: classical Leigh syndrome, Leigh necrotizing encephalopathy, Leigh's disease, necrotizing encephalomyelopathy of Leigh's, SNE, subacute necrotizing encephalopathy
Subdivisions: adult-onset subacute necrotizing encephalomyelopathy, infantile necrotizing encephalopathy, X-linked infantile nectrotizing encephalopathy


Subdivisions: cutaneous leishmaniasis, mucosal (mucocutaneous) leishmaniasis, visceral leishmaniasis

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
Subdivisions: Borderline Lepromatous Leprosy, Borderline Tuberculoid Leprosy, Indeterminate Leprosy, Lepromatous Leprosy, Midborderline Leprosy, Tuberculoid Leprosy


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

Leukocyte Adhesion Deficiency Syndromes

Also known as: LAD syndromes
Subdivisions: congenital disorder of glycosylation type II c, LAD I, LAD II, LAD III, leukocyte adhesion deficiency type I, leukocyte adhesion deficiency type II, leukocyte adhesion deficiency type III, Rambon-Hasharon syndrome


Also known as: hereditary white matter disorders, inherited leukoencephalopathies
Subdivisions: adult-onset autosomal dominant leukodystrophy (ADLD), adult polyglucosan body disease (APBD), Aicardi-Goutieres syndrome, Alexander disease, CADASIL, Canavan disease, CARASIL, cerebrotendinous xanthomatosis, childhood ataxia and cerebral hypomyelination (CACH)/ vanishing white matter disease (VWMD), Fabry disease, fucosidosis, GM1 gangliosidosis, Krabbe disease, L-2-hydroxyglutaric aciduria, megalencephalic leukoencephalopathy with subcortical cysts, metachromatic leukodystrophy, multiple sulfatase deficiency, Pelizaeus-Merzbacher disease, Pol III-Related Leukodystrophies, Refsum disease, salla disease (free sialic acid storage disease), Sjogren-Larsson syndrome, X-linked adrenoleukodystrophy, Zellweger syndrome spectrum disorders

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

Liddle Syndrome

Also known as: pseudoaldosteronism, pseudohyperaldosteronism


Also known as: lipomatous tumor
Subdivisions: well differentiated (adipocytic, sclerosing, and inflammatory), dedifferentiated, myxoid, round cell, pleomorphic


Also known as: agyria, lissencephaly, type I, classic lissencephaly (LIS1)
Subdivisions: isolated lissencephaly sequence (ILS), Miller-Dieker syndrome, subcortical band heterotopia, x-linked lissencephaly


Also known as: listeria infection
Subdivisions: listeriosis of pregnancy, neonatal listeriosis

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
Subdivisions: BRIC type 1; mild FIC1 deficiency; mild ATP8B1 disease, BRIC type 2; mild BSEP deficiency; mild ABCB11 disease, Byler disease, Byler syndrome, Greenland childhood cholestasis, PFIC type 1; severe FIC1 deficiency; severe ATP8B1 disease, PFIC type 2; severe BSEP deficiency; severe ABCB11 disease , PFIC type 4; TJP2 , PFIC type 5; NR1H4 , PFIC type 6; MYO5B

Lowe syndrome

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


Also known as: LAM, lymphangioleimyomatosis, lymphangioleiomatosis, lymphangiomyomatosis, 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