L

L1CAM syndrome
L1 syndrome
L-2-HGA
L-2-hydroxyglutaric acidemia
L-2-hydroxyglutaric aciduria
LAAHD
Laband syndrome
Labrune syndrome
L-ACAOS
Lacrimal drainage system anomaly
Lacrimal drainage system anomaly of genetic origin
Lacrimoauriculodentodigital syndrome
Lacrimoauriculoradiodental syndrome
La Crosse encephalitis
Lactate dehydrogenase A deficiency
Lactate dehydrogenase B deficiency
Lactotroph adenoma
LAD
LAD-1 variant
Ladda-Zonana-Ramer syndrome
LADD syndrome
LAD-I
LAD-II
LAD-III
LAEB
Lafora disease
Lagophthalmia-cleft lip and palate syndrome
Laing early-onset distal myopathy
LAL deficiency
LAM
LAMA2-related muscular dystrophy
LAMA5-related multisystemic syndrome
LAMB2-related infantile-onset nephrotic syndrome
Lambert-Eaton myasthenic syndrome
Lambert syndrome
Lamb-Shaffer syndrome
Lamellar ichthyosis
Laminin subunit alpha 2-related congenital muscular dystrophy
Laminin subunit alpha 2-related late-onset muscular dystrophy
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
Laminin subunit alpha 2-related muscular dystrophy
Laminopathy
Laminopathy with lipodystrophy
Laminopathy with peripheral neuropathy
Laminopathy with premature aging
Laminopathy with striated muscle involvement
LAMM syndrome
Landau-Kleffner syndrome
Landing disease
Landouzy-Dejerine myopathy
Lane disease
Langer-Giedion syndrome
Langerhans cell granulomatosis
Langerhans cell granulomatosis in childhood and adulthood
Langerhans cell granulomatosis specific to adulthood
Langerhans cell granulomatosis specific to childhood
Langerhans cell histiocytosis
Langerhans cell histiocytosis in childhood and adulthood
Langerhans cell histiocytosis specific to adulthood
Langerhans cell histiocytosis specific to childhood
Langerhans cell sarcoma
Langer mesomelic dysplasia
Laparoschisis
LARD syndrome
Large cell lymphoma of the mediastinum
Large congenital melanocytic nevus
Large granular lymphocyte leukemia
L-Arginine:glycine amidinotransferase deficiency
Laron-like syndrome
Laron syndrome
Laron syndrome with immunodeficiency
Laron-type dwarfism
Larsen-like osseous dysplasia-short stature syndrome
Larsen-like syndrome, B3GAT3 type
Larsen syndrome
Laryngeal abductor paralysis
Laryngeal abductor paralysis-intellectual disability syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Laryngeal neuroendocrine tumor
Laryngocele
Laryngo-onycho-cutaneous syndrome
Laryngotracheal angioma
Laryngotracheoesophageal cleft
Laryngo-tracheo-esophageal cleft
Laryngotracheoesophageal cleft type 0
Laryngo-tracheo-esophageal cleft type 0
Laryngotracheoesophageal cleft type 1
Laryngo-tracheo-esophageal cleft type 1
Laryngotracheoesophageal cleft type 2
Laryngo-tracheo-esophageal cleft type 2
Laryngotracheoesophageal cleft type 3
Laryngo-tracheo-esophageal cleft type 3
Laryngotracheoesophageal cleft type 4
Laryngo-tracheo-esophageal cleft type 4
Laryngo-tracheo-esophageal diastema
Larynx anomaly
Larynx atresia
Lassa fever
Lassa hemorrhagic fever
Late hereditary endothelial dystrophy
Late infantile CACH syndrome
Late-infantile GM1 gangliosidosis
Late-infantile/juvenile Krabbe disease
Late infantile NCL
Late infantile neuronal ceroid lipofuscinosis
Late-onset ataxia with dementia
Late-onset benign childhood occipital epilepsy
Late-onset citrullinemia type 1
Late-onset citrullinemia type I
Late-onset distal crystallinopathy
Late-onset distal myopathy, Markesbery-Griggs type
Late-onset familial encephalopathy with neuroserpin inclusion bodies
Late-onset familial hyperreninemic hypoaldosteronism
Late-onset familial hypoaldosteronism
Late-onset focal dermal elastosis
Late-onset infantile spasms
Late-onset isolated ACTH deficiency
Late-onset junctional epidermolysis bullosa
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Late-onset multiple carboxylase deficiency
Late-onset nephronophthisis
Late-onset primary lymphedema
Late-onset retinal degeneration
Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
Late-onset scapuloperoneal syndrome, myopathic type
Late-onset SPMD with hyaline bodies
Lateral facial cleft
Lateralization defect
Lateral meningocele syndrome
Laterofacial microsomia
Lathosterolosis
Lattice corneal dystrophy type 1
Lattice corneal dystrophy type I
Laubry-Pezzi syndrome
Launois-Bensaude lipomatosis
Laurence-Moon syndrome
Laurin-Sandrow syndrome
Lawrence-Seip syndrome
Lawrence syndrome
Laxova-Opitz syndrome
LBSL
LBWC syndrome
LC
LCAD
LCAT deficiency
LCC
LCCS
LCCS1
LCCS2
LCCS3
LCCS5
LCD1
LCDD
LCDI
LCH
LCHADD
LCHAD deficiency
LCM
L-CMD
LCMN
LCPS
L-CPT1 deficiency
L-CPTI deficiency
LDD
LDH deficiency
LDH-H subunit deficiency
LDH-M subunit deficiency
Lead intoxication
Lead poisoning
Learman syndrome
Leber congenital amaurosis
Leber hereditary optic neuropathy
Leber miliary aneurysm
Leber optic atrophy
Leber plus disease
LECD
Lecithin-cholesterol acyltransferase deficiency
Ledderhose disease
Left coronary artery from right aortic sinus
Left renal vein entrapment syndrome
Left ventricular hypertrabeculation
Left ventricular noncompaction
Left ventricular-to-right atrial communication
Leg duplication-mirror foot syndrome
Legg-Calvé-Perthes disease
Legionellosis
Legionnaires disease
Legius syndrome
Lehman syndrome
Leichtman-Wood-Rohn syndrome
Leigh disease
Leigh disease with leukodystrophy
Leigh disease with myopathy
Leigh disease with nephrotic syndrome
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Leigh syndrome
Leigh syndrome due to PC deficiency
Leigh syndrome due to pyruvate carboxylase deficiency
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Leigh syndrome with nephrotic syndrome
Leiner disease
Leiomyomatosis peritonealis disseminate
Leiomyosarcoma
Leiomyosarcoma of small intestine
Leiomyosarcoma of the cervix uteri
Leiomyosarcoma of the corpus uteri
Leishmaniasis
Lelis syndrome
Le Merrer syndrome
Lemierre postanginal sepsis
Lemierre syndrome
Lenk-Ploski syndrome
Lennox-Gastaut syndrome
Lens-induced endophthalmitis
Lens-induced iridocyclitis
Lens-induced uveitis
Lens position anomaly
Lens position anomaly of genetic origin
Lens shape anomaly
Lens size anomaly
Lens size anomaly of genetic origin
Lenz-Majewski hyperostotic dwarfism
Lenz microphthalmia
LEOPARD syndrome
Lepore-beta-thalassemia syndrome
Leprechaunism
Leprosy
Leptomeningeal melanomatosis
Leptomyelolipoma
Leptospirosis
Leri pleonosteosis
Léri-Weill dyschondrosteosis
Léri-Weill syndrome
Lesch-Nyhan syndrome
Lethal acantholytic epidermolysis bullosa
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Lethal arthrogryposis-anterior horn cell disease syndrome
Lethal ataxia with deafness and optic atrophy
Lethal chondrodysplasia
Lethal congenital contracture syndrome
Lethal congenital contracture syndrome type 1
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
Lethal congenital contracture syndrome type 5
Lethal faciocardiomelic dysplasia
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal hemolytic anemia-genital anomalies syndrome
Lethal hydranencephaly-diaphragmatic hernia syndrome
Lethal hydrocephalus-cardiac malformation-dense bones syndrome
Lethal hyperkeratosis-contracture syndrome
Lethal infantile mitochondrial disease
Lethal infantile mitochondrial myopathy
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Lethal Kniest-like dysplasia
Lethal Larsen-like syndrome
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Lethal midline granuloma
Lethal multiple congenital anomalies/dysmorphic syndrome
Lethal multiple pterygium syndrome
Lethal neonatal rigidity-multifocal seizure syndrome
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Lethal neurodegenerative disorder due to copper transport defect
Lethal occipital encephalocele-skeletal dysplasia syndrome
Lethal omphalocele-cleft palate syndrome
Lethal osteogenesis imperfecta
Lethal osteosclerotic bone dysplasia
Lethal polymalformative syndrome, Boissel type
Lethal popliteal pterygium syndrome
Lethal recessive chondrodysplasia
Lethal restrictive dermopathy
Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome
Lethal tight skin-contracture syndrome
Letrozole toxicity
Leukemic reticuloendotheliosis
Leukemic reticuloendotheliosis variant
Leukocyte adhesion deficiency
Leukocyte adhesion deficiency-1 variant
Leukocyte adhesion deficiency type I
Leukocyte adhesion deficiency type II
Leukocyte adhesion deficiency type III
Leukocyte chemotactic factor-2 amyloidosis
Leukodystrophy
Leukodystrophy due to alkaline ceramidase 3 deficiency
Leukodystrophy with oligodontia
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
Leukoencephalopathy-palmoplantar keratoderma syndrome
Leukoencephalopathy-spondylometaphyseal dysplasia syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukoencephalopathy with vanishing white matter
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Leukonychia totalis
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome
Leukotriene C4 synthase deficiency
Levic-Stefanovic-Nikolic syndrome
Levine-Critchley syndrome
Levocardia
Levocardia with situs inversus
Levo-transposition of the great arteries
Levy-Hollister syndrome
Lewandowsky-Lutz syndrome
Lewis-Sumner syndrome
Leydig cell hypoplasia
Leydig cell hypoplasia due to complete LH receptor inactivation
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to complete luteinizing hormone resistance
Leydig cell hypoplasia due to LHB deficiency
Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
Leydig cell hypoplasia due to partial LH receptor inactivation
Leydig cell hypoplasia due to partial LH resistance
Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation
Leydig cell hypoplasia due to partial luteinizing hormone resistance
LF
L-ferritin deficiency
LGL syndrome
L-glyceric aciduria
LGMD
LGMD1A
LGMD1B
LGMD1C
LGMD1D
LGMD1E
LGMD1F
LGMD1G
LGMD1H
LGMD1I
LGMD2A
LGMD2B
LGMD2C
LGMD2D
LGMD2E
LGMD2F
LGMD2G
LGMD2H
LGMD2I
LGMD2J
LGMD2K
LGMD2L
LGMD2M
LGMD2N
LGMD2O
LGMD2P
LGMD2Q
LGMD2R
LGMD2S
LGMD2T
LGMD2U
LGMD2W
LGMD2X
LGMD2Y
LGMD2Z
LGMD due to POMK deficiency
LHCDD
Lhermitte-Duclos disease
LHON
LHON plus disease
LI
Lichen amyloidosis
Lichen amyloidosus
Lichen follicularis
Lichen myxedematosus
Lichenoid melanodermatitis
Lichen planopilaris
Lichen planus actinus
Lichen planus follicularis
Lichen planus pemphigoides
Lichen planus pigmentosa
Lichen planus pigmentosus
Lichen planus pigmentosus inversus
Lichen planus subtropicus
Lichen planus tropicus
Lichtenstein-Knorr syndrome
Lichtenstein syndrome
Liddle syndrome
Liebenberg syndrome
Li-Fraumeni syndrome
LIG4 syndrome
Ligase 4 syndrome
Light and heavy chain deposition disease
Light-chain amyloidosis
Light chain deposition disease
Ligneous conjunctivitis
Limbal stem cell deficiency
Limb body wall complex
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to calpain deficiency
Limb-girdle muscular dystrophy due to caveolin-3 deficiency
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to dysferlin deficiency
Limb-girdle muscular dystrophy due to FKRP deficiency
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to lamin A/C deficiency
Limb-girdle muscular dystrophy due to myotilin deficiency
Limb-girdle muscular dystrophy due to POMK deficiency
Limb-girdle muscular dystrophy due to telethonin deficiency
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Limb-girdle muscular dystrophy-intellectual disability syndrome
Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
Limb-girdle muscular dystrophy with Paget disease of bone
Limbic encephalitis
Limbic encephalitis associated with antibodies to cell membrane antigens
Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome
Limbic encephalitis with caspr2 antibodies
Limbic encephalitis with dipeptidyl-peptidase 6 antibodies
Limbic encephalitis with DPP6 antibodies
Limbic encephalitis with DPPX antibodies
Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
Limbic encephalitis with LGI1 antibodies
Limbic encephalitis with neurexin-3 antibodies
Limbic encephalitis with NMDA receptor antibodies
Limbic encephalitis with N-methyl-D-aspartate receptor antibodies
Limb-mammary syndrome
Limb, scalp and skull defects
LIMD
Limit dextrinosis
Limited cutaneous systemic scleroderma
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
LIMM
LINCL
Lindau disease
Lindsay-Burn syndrome
Linear and whorled nevoid hypermelanosis
Linear atrophoderma of Moulin
Linear focal dermal elastosis
Linear focal elastosis
Linear hamartoma syndrome
Linear IgA dermatosis
Linear lichen planus
Linear LP
Linear nevus sebaceus syndrome
Linear verrucous nevus syndrome
Linitis plastica of the stomach
Lipedema
LIPE-related familial partial lipodystrophy
LIPE-related FPLD
Lipidosis with triglyceride storage disease
Lipid storage disease
Lipid storage myopathy
Lipoamide dehydrogenase deficiency
Lipoate biosynthesis defect
Lipoatrophia semicircularis
Lipoatrophic diabetes
Lipoatrophy caused by injected drug
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
Lipoblastoma
Lipodystrophia centrifugalis abdominalis infantilis
Lipodystrophy due to peptidic growth factors deficiency
Lipodystrophy-intellectual disability-deafness syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Lipoic acid biosynthesis defect
Lipoic acid synthetase deficiency
Lipoid dermatoarthritis
Lipoid proteinosis
Lipoma associated with neurospinal dysraphism
Lipomatosis dolorosa
Lipomatous mesenteritis
Lipomucopolysaccharidosis
Lipomyelomeningocele
Lipoprotein glomerulopathy
Liposarcoma
Liposclerotic mesenteritis
Lipoyl transferase 1 deficiency
Lipoyl transferase 2 deficiency
Lip-pit syndrome
Lisch epithelial corneal dystrophy
Lisker-Garcia-Ramos syndrome
Lison syndrome
Lissencephaly
Lissencephaly due to 17p13.3 deletion
Lissencephaly due to LIS1 mutation
Lissencephaly due to TUBA1A mutation
Lissencephaly syndrome, Norman-Roberts type
Lissencephaly type 1
Lissencephaly type 1 due to doublecortin gene mutation
Lissencephaly type 2
Lissencephaly type 2 with muscular and ocular involvement
Lissencephaly type 2 without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement
Lissencephaly type 3
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia type A
Lissencephaly with cerebellar hypoplasia type B
Lissencephaly with cerebellar hypoplasia type C
Lissencephaly with cerebellar hypoplasia type D
Lissencephaly with cerebellar hypoplasia type E
Lissencephaly with cerebellar hypoplasia type F
Listeria infection
Listeriosis
Livedoid vasculopathy
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
Livedo reticularis with summer ulcerations
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
Liver glycogen phosphorylase deficiency
LKS
LM
LMNA-related cardiocutaneous progeria syndrome
LMNA-related congenital muscular dystrophy
LMPS
LMS
Lobar holoprosencephaly
Lobstein disease
Localized AL amyloidosis
Localized Castleman disease
Localized deciduous skin
Localized epidermolysis bullosa simplex
Localized fibrosing scleroderma
Localized junctional epidermolysis bullosa, non-Herlitz type
Localized lichen myxedematosus
Localized lichen myxedematosus with mixed features of different subtypes
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
Localized lipodystrophy
Localized pagetoid reticulosis
Localized PSS
Localized pustular psoriasis
Localized scleroderma
Locked-in syndrome
LOC syndrome
Loeffler endocarditis
Loeys-Dietz syndrome
LOGIC syndrome
Logopenic primary progressive aphasia
Logopenic progressive aphasia
Logopenic variant PPA
Loiasis
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
Long eyelashes-intellectual disability syndrome
Longitudinal limb defect
Longitudinal meromelia
Longitudinal vaginal septum
Longman-Tolmie syndrome
Long QT interval-deafness syndrome
Long QT syndrome-syndactyly syndrome
Long QT syndrome type 7
Long QT syndrome type 8
Loose anagen syndrome
LOPD
Lopes-Gorlin syndrome
Lopes-Marques de Faria syndrome
LORD
Loricrin keratoderma
Lou Gehrig disease
Louis-Bar syndrome
Lowe disease
Lowe-Kohn-Cohen syndrome
Lowe oculo-cerebro-renal syndrome
Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
Lower limb hypertrophy
Lower limb malformation-hypospadias syndrome
Lower lip fistula
Lower motor neuron syndrome with late-adult onset
Lowe syndrome
Low-flow priapism
Low-grade astrocytoma
Low-grade neuroendocrine tumor of the corpus uteri
Low-grade neuroendocrine tumor of the uterine corpus
Low isolated anorectal malformation
Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
Lown-Ganong-Levine syndrome
Low phospholipid-associated cholelithiasis
Lowry-MacLean syndrome
Lowry syndrome
Lowry-Wood syndrome
Lowry-Yong syndrome
LPA
LPAC
LPD
LPG
LPI
LPL deficiency
LPP
LPP
LP pemphigoides
LP pigmentosa
LP pigmentosus
LQT7
LQT8
LRP5-related primary osteoporosis
LTBL
LTC4 synthase deficiency
LTEC
LTEC0
LTEC1
LTEC2
LTEC3
LTEC4
LTEC I
LTEC II
LTEC III
LTEC IV
L-transposition of the great arteries
Lubag
Lubag syndrome
Lubani-Al Saleh-Teebi syndrome
Lubinsky syndrome
Lucey-Driscoll syndrome
Lujan-Fryns syndrome
Lujan syndrome
Lujo hemorrhagic fever
LUMBAR syndrome
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Lunatomalacia
Lundberg syndrome
Lung agenesis-heart defect-thumb anomalies syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Lupus erythematosus panniculitis
Lupus erythematosus profundus
Lupus erythematosus tumidus
Luteal-phase-dependent febrile episode
Luteal-phase-dependent periodic fever
Luteinizing hormone-releasing hormone deficiency with ataxia
LUTO
Lutz-Lewandowsky epidermodysplasia verruciformis
LVNC
LWNH
Lyell syndrome
LYG
Lyme borreliosis
Lyme disease
Lymphangioleiomyomatosis
Lymphangioma
Lymphatic filariasis
Lymphedema
Lymphedema-atrial septal defects-facial changes syndrome
Lymphedema-cerebral arteriovenous anomaly syndrome
Lymphedema-distichiasis syndrome
Lymphedema-hypoparathyroidism syndrome syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
Lymphedema-posterior choanal atresia syndrome
Lymphedema with yellow nails
Lymphoblastoid variant of NK-cell lymphoma
Lymphocytic hypereosinophilic syndrome
Lymphocytic interstitial pneumonia
Lymphocytic variant HES
Lymphoepithelial-like carcinoma
Lymphogranulomatosis X
Lymphoid hemopathy
Lymphoid HES
Lymphoid interstitial pneumonia
Lymphoma
Lymphomatoid granulomatosis
Lymphomatoid papulosis
Lymphoplasmacytic inflammatory pseudotumor of the liver
Lymphoplasmacytic lymphoma without IgM production
Lymphoplasmacytic lymphoma without Immunoglobulin M production
Lymphoplasmacytic sclerosing pancreatitis
Lymphoproliferative disease associated with primary immune disease
Lymphoproliferative syndrome
Lynch-Lee-Murday syndrome
Lynch syndrome
Lyngstadaas syndrome
LyP
Lysine alpha-ketoglutarate reductase deficiency
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
Lysosomal acid phosphatase deficiency
Lysosomal alpha-D-mannosidase deficiency
Lysosomal alpha-D-mannosidase deficiency, adult form
Lysosomal alpha-D-mannosidase deficiency, infantile form
Lysosomal disease
Lysosomal disease with epilepsy
Lysosomal disease with hypertrophic cardiomyopathy
Lysosomal disease with restrictive cardiomyopathy
Lysosomal glycogen storage disease
Lysosomal glycogen storage disease with normal acid maltase activity
Lysosomal membrane cobalamin transporter deficiency
Lysosomal storage disease with skeletal involvement
Lysozyme amyloidosis
Lysyl hydroxylase-deficient EDS
Lytico-Bodig disease

No items found.