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L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency
see
3-hydroxyacyl-CoA dehydrogenase deficiency
l-arginine:glycine aminidotransferase deficiency
see
arginine:glycine amidinotransferase deficiency
L1 syndrome
lactate dehydrogenase deficiency
lactose intolerance
Lacunar Dementias
see
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Lafora Disease
see
Lafora progressive myoclonus epilepsy
Lafora progressive myoclonus epilepsy
Laing distal myopathy
LAL deficiency
see
Wolman disease
LAM
see
lymphangioleiomyomatosis
LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome
see
Carney complex
lamellar ichthyosis
LAMM syndrome
see
congenital deafness with labyrinthine aplasia, microtia, and microdontia
Landouzy-Dejerine Dystrophy
see
facioscapulohumeral muscular dystrophy
Landry-Guillain-Barre syndrome
see
Guillain-Barré syndrome
Langer-Giedion syndrome
Langer mesomelic dysplasia
Langerhans cell histiocytosis
LAPS syndrome
see
Myhre syndrome
Larsen syndrome
laryngotracheal stenosis, arthropathy, prognathism, and short stature
see
Myhre syndrome
Late-onset biotin-responsive multiple carboxylase deficiency
see
biotinidase deficiency
Late-onset multiple carboxylase deficiency
see
biotinidase deficiency
Late-onset spondyloepiphyseal dysplasia
see
X-linked spondyloepiphyseal dysplasia tarda
lateral facial dysplasia
see
craniofacial microsomia
lattice corneal dystrophy type I
lattice corneal dystrophy type II
Laurence-Moon-Bardet-Biedl syndrome
see
Bardet-Biedl syndrome
Laurence-Moon-Biedl syndrome
see
Bardet-Biedl syndrome
Laurence-Moon syndrome
see
Bardet-Biedl syndrome
LBSL
see
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
LCA
see
Leber congenital amaurosis
LCH
see
Langerhans cell histiocytosis
;
Leydig cell hypoplasia
LCHAD deficiency
see
long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LDH deficiency
see
lactate dehydrogenase deficiency
Le Merrer syndrome
see
3-M syndrome
Learning Disorders
Leber congenital amaurosis
Leber hereditary optic neuropathy
Legius syndrome
Leigh syndrome
leiomyomatosis and renal cell cancer
see
hereditary leiomyomatosis and renal cell cancer
Leisti-Hollander-Rimoin syndrome
see
Floating-Harbor syndrome
Lennox-Gastaut syndrome
Lentiginosis, Perioral
see
Peutz-Jeghers syndrome
lentiginosis profusa
see
multiple lentigines syndrome
Lenz microphthalmia syndrome
LEOPARD syndrome
see
multiple lentigines syndrome
Léri-Weill dyschondrosteosis
Lesch-Nyhan syndrome
leukemia, acute promyelocytic
see
acute promyelocytic leukemia
Leukodystrophies
see
Aicardi-Goutieres syndrome
;
Alexander disease
;
Canavan disease
;
hereditary diffuse leukoencephalopathy with spheroids
;
hypomyelination and congenital cataract
;
Krabbe disease
;
leukoencephalopathy with vanishing white matter
;
megalencephalic leukoencephalopathy with subcortical cysts
;
metachromatic leukodystrophy
;
Pelizaeus-Merzbacher disease
;
X-linked adrenoleukodystrophy
;
Zellweger spectrum
Leukodystrophy, spongiform
see
Canavan disease
leukodystrophy with Rosenthal fibers
see
Alexander disease
leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
leukoencephalopathy with swelling and a discrepantly mild course
see
megalencephalic leukoencephalopathy with subcortical cysts
leukoencephalopathy with swelling and cysts
see
megalencephalic leukoencephalopathy with subcortical cysts
leukoencephalopathy with vanishing white matter
Lewy Body Disease
see
Parkinson disease
Leydig cell hypoplasia
LFS
see
Li-Fraumeni syndrome
;
Lujan syndrome
LGMD
see
limb-girdle muscular dystrophy
LGS
see
Lennox-Gastaut syndrome
LH resistance due to LH receptor deactivation
see
Leydig cell hypoplasia
LHON
see
Leber hereditary optic neuropathy
LI
see
lamellar ichthyosis
Li-Fraumeni syndrome
limb-girdle muscular dystrophy
limit dextrinosis
see
glycogen storage disease type III
lip-pit syndrome
see
van der Woude syndrome
lip pseudocleft-hemagiomatous branchial cyst syndrome
see
branchio-oculo-facial syndrome
LIPA deficiency
see
Wolman disease
Lipase D deficiency
see
familial lipoprotein lipase deficiency
LIPD deficiency
see
familial lipoprotein lipase deficiency
Lipid Metabolism, Inborn Errors
lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency
see
short-chain acyl-CoA dehydrogenase deficiency
lipid transport defect of intestine
see
chylomicron retention disease
lipodystrophy, congenital generalized
see
Berardinelli-Seip congenital lipodystrophy
lipoid histiocytosis (classical phosphatide)
see
Niemann-Pick disease
Lipoid histiocytosis (kerasin type)
see
Gaucher disease
lipomatosis dolorosa
see
adiposis dolorosa
Lipoprotein Deficiency Disease, HDL, Familial
see
Tangier disease
Lipoprotein Lipase Deficiency, Familial
see
familial lipoprotein lipase deficiency
Liposomal Acid Lipase Deficiency, Wolman Type
see
Wolman disease
lissencephaly and agenesis of corpus callosum
see
X-linked lissencephaly
lissencephaly type 1
see
X-linked lissencephaly
lissencephaly, X-linked
see
X-linked lissencephaly
LISX
see
X-linked lissencephaly
Liver Diseases
liver form of carnitine palmitoyltransferase deficiency
see
carnitine palmitoyltransferase I deficiency
liver phosphorylase deficiency syndrome
see
glycogen storage disease type VI
LMBBS
see
Bardet-Biedl syndrome
LMD
see
Langer mesomelic dysplasia
LMS
see
Bardet-Biedl syndrome
LND
see
Lesch-Nyhan syndrome
LNS
see
Lesch-Nyhan syndrome
Loeys-Dietz syndrome
Loken-Senior syndrome
see
Senior-Løken syndrome
long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long QT Syndrome
Long QT syndrome 7
see
Andersen-Tawil syndrome
Long QT syndrome with syndactyly
see
Timothy syndrome
Lou Gehrig disease
see
amyotrophic lateral sclerosis
Louis-Bar syndrome
see
ataxia-telangiectasia
low gamma-GT familial intrahepatic cholestasis
see
benign recurrent intrahepatic cholestasis
;
progressive familial intrahepatic cholestasis
low serum HDL cholesterol
see
familial HDL deficiency
Lowe syndrome
Lower motor neuron degeneration with Paget-like bone disease
see
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
LPI
see
lysinuric protein intolerance
LQT7
see
Andersen-Tawil syndrome
LQT8
see
Timothy syndrome
LRCC
see
hereditary leiomyomatosis and renal cell cancer
LRS
see
Larsen syndrome
Lubag
see
X-linked dystonia-parkinsonism
Lubs X-linked mental retardation syndrome
see
MECP2 duplication syndrome
Lujan syndrome
Lundborg-Unverricht syndrome
see
Unverricht-Lundborg disease
Lung Diseases
Luschka-Magendie foramina atresia
see
Dandy-Walker syndrome
LVM
see
megalencephalic leukoencephalopathy with subcortical cysts
LWD
see
Léri-Weill dyschondrosteosis
lymphangioleiomyomatosis
lymphangiomyomatosis
see
lymphangioleiomyomatosis
Lymphatic Diseases
Lymphedema
lymphedema-distichiasis syndrome
lymphedema praecox
see
Meige lymphedema
lymphedema with distichiasis
see
lymphedema-distichiasis syndrome
Lymphoma
see
X-linked lymphoproliferative disease
Lynch syndrome
lysine alpha-ketoglutarate reductase deficiency disease
see
hyperlysinemia
lysinuric protein intolerance
Lysosomal acid lipase deficiency
see
Wolman disease
lysosomal alpha B mannosidosis
see
alpha-mannosidosis
lysosomal alpha-D-mannosidase deficiency
see
alpha-mannosidosis
lysosomal beta A mannosidosis
see
beta-mannosidosis
lysosomal beta-mannosidase deficiency
see
beta-mannosidosis
lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum
see
Schindler disease
lysosomal glycogen storage disease with normal acid maltase
see
Danon disease
lysosomal protective protein deficiency
see
galactosialidosis
Lysosomal Storage Diseases
Published: February 11, 2013