Echinobase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 12 13 ???pagination.result.next???

Disease	Synonyms	Description
leukoencephalopathy with vanishing white matter 2		A leukoencephalopathy with vanishing white matter ..[+] A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. [-]
lymphoblastic lymphoma		A lymphoma that has_material_basis_in immature mal..[+] A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. [-]
lupus nephritis		A glomerulonephritis that is characterized by infl..[+] A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. [-]
lung mucinous cystadenocarcinoma		A lung adenocarcinoma that is a very rare malignan..[+] A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. [-]
laryngomalacia	congenital laryngomalacia	A laryngeal disease that is characterized by inwar..[+] A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. [-]
long COVID	chronic COVID-19; PASC; post-acute sequelae of SAR.. [+] chronic COVID-19; PASC; post-acute sequelae of SARS-CoV-2 infection; post-COVID syndrome [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. [-]
Leber congenital amaurosis 19		A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. [-]
lacrimoauriculodentodigital syndrome 3	Lacrimo-auriculo-dento-digital syndrome 3	A LADD syndrome that is characterized by aplasia, ..[+] A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. [-]
lethal congenital glycogen storage disease of heart	fatal congenital nonlysosomal cardiac glycogenosis.. [+] fatal congenital nonlysosomal cardiac glycogenosis; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital hypertrophic cardiomyopathy due to GSD; phosphorylase kinase deficiency of heart [-]	A glycogen storage disease characterized by autoso..[+] A glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material_basis_in heterozygous mutation in the PRKAG2 gene on chromosome 7q36. [-]
Leber congenital amaurosis 9	LCA9	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. [-]
Leber congenital amaurosis 2	LCA2; amaurosis congenita of Leber II	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. [-]
Leber congenital amaurosis 1	LCA1; amaurosis congenita of Leber I	A Leber congenital amaurosis characterized by seve..[+] A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. [-]
Leber congenital amaurosis 8	LCA8	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. [-]
Leber congenital amaurosis 12	LCA12	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. [-]
Leber congenital amaurosis 16	LCA16	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. [-]
Leber congenital amaurosis 14	LCA14	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. [-]
Leber congenital amaurosis 15	LCA15	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. [-]
Leber congenital amaurosis 5	LCA5	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. [-]
Leber congenital amaurosis 11	LCA11	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. [-]
Leber congenital amaurosis 17	LCA17	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. [-]
Leber congenital amaurosis 10	LCA10	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. [-]
Leber congenital amaurosis 6	LCA6	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. [-]
Leber congenital amaurosis 13	LCA13	A Leber congenital amaurosis thatis characterized ..[+] A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. [-]
Leber congenital amaurosis 3	LCA3	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. [-]
Leber congenital amaurosis 4	LCA4	A Leber congenital amaurosis that is characterized..[+] A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. [-]
Leber congenital amaurosis 7	LCA7	A Leber congenital amaurosis that has_material_bas..[+] A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. [-]
late-adult onset retinitis pigmentosa	senile retinitis pigmentosa	A retinitis pigmentosa that is characterized by on..[+] A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. [-]
long QT syndrome 1	LQT1; ventricular fibrillation with prolonged QT i.. [+] LQT1; ventricular fibrillation with prolonged QT interval [-]	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. [-]
long QT syndrome 2	LQT2	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. [-]
long QT syndrome 3	LQT3	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. [-]
long QT syndrome 5	LQT5	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. [-]
long QT syndrome 6	LQT6	A long QT interval syndrome that has_material_basi..[+] A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. [-]
long QT syndrome 9	LQT9	A long QT syndrome that has_material_basis_in muta..[+] A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. [-]
long QT syndrome 10	LQT10	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. [-]
long QT syndrome 11	LQT11	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. [-]
long QT syndrome 12	LQT12	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. [-]
long QT syndrome 13	LQT13	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. [-]
long QT syndrome 14	LQT14	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. [-]
long QT syndrome 15	LQT15	A long QT syndrome that has_material_basis_in domi..[+] A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. [-]
leukocyte adhesion deficiency 1	lymphocyte function-associated antigen 1 immunodef.. [+] lymphocyte function-associated antigen 1 immunodeficiency; LFA1 immunodeficiency; leukocyte adhesion deficiency type I; LAD1 [-]	A leukocyte adhesion deficiency that has_material_..[+] A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. [-]
leukocyte adhesion deficiency 3	leukocyte adhesion deficiency type III; leukocyte .. [+] leukocyte adhesion deficiency type III; leukocyte adhesion deficiency 1 variant; LAD3; LAD1V; LAD1 variant; IADD; integrin activation deficiency disease [-]	A leukocyte adhesion deficiency that is characteri..[+] A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. [-]
large congenital melanocytic nevus	LCMN; Congenital pigmented nevus; Giant congenital.. [+] LCMN; Congenital pigmented nevus; Giant congenital melanocytic nevus; Giant pigmented hairy nevus; GMN [-]	A skin disease characterized by the presence at bi..[+] A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. [-]
Li-Fraumeni syndrome 1	LFS1	A Li-Fraumeni syndrome that has_material_basis_in ..[+] A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. [-]
linear nevus sebaceous syndrome	Jadassohn nevus phakomatosis; JNP; nevus sebaceus .. [+] Jadassohn nevus phakomatosis; JNP; nevus sebaceus of Jadassohn; nevus sebaceus syndrome; organoid nevus phakomatosis; organoid nevus syndrome; Schimmelpenning Feuerstein Mims syndrome; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome [-]	A syndrome characterized by sebaceous nevi typical..[+] A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. [-]
long QT syndrome 4	LQT4	A long QT syndrome that has_material_basis_in hete..[+] A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. [-]
low molecular weight proteinuria with hypercalciuric nephrocalcinosis		A Dent disease characterized by elevted levels of ..[+] A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. [-]
lissencephaly 10	LIS10	A lissencephaly characterized by variably delayed ..[+] A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. [-]
lissencephaly 4	lissencephaly 4 with microcephaly; LIS4	A microlissencephaly characterized by lissencephal..[+] A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. [-]
lissencephaly 1	LIS1; PAFAH1B1-related lissencephaly	A lissencephaly characterized by an abnormally thi..[+] A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. [-]
Leydig cell hypoplasia	46,XY disorder of sex development due to LH resist.. [+] 46,XY disorder of sex development due to LH resistance or LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency; 46,XY DSD due to LH resistance or LHB deficiency; 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency [-]	A pseudohermaphroditism that has_material_basis_in..[+] A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. [-]

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 12 13 ???pagination.result.next???