| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
Kyasanur forest disease
|
|
A viral infectious disease that is a hemorrhagic f.. [+]A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems.
[-]
|
|
|
|
L-2-hydroxyglutaric aciduria
|
L-2-HYDROXYGLUTARIC ACIDEMIA;
|
An 2-hydroxyglutaric aciduria that involves damage.. [+]An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
[-]
|
|
|
|
L-cell glucagon-like peptide producing tumor
|
|
n_a
|
|
|
|
LADD syndrome
|
Lacrimo-auriculo-dento-digital (LADD) syndrome; la..
[+]Lacrimo-auriculo-dento-digital (LADD) syndrome; lacrimoauriculodentodigital syndrome;
[-]
|
A syndrome that is characterized by defects in the.. [+]A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers.
[-]
|
|
|
|
La Crosse encephalitis
|
California Encephalitis; Neuroinvasive California ..
[+]California Encephalitis; Neuroinvasive California encephalitis virus infection; California virus encephalitis;
[-]
|
A viral infectious disease that results_in inflamm.. [+]A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
[-]
|
|
|
|
Lafora disease
|
MYOCLONIC EPILEPSY OF LAFORA; Lafora's disease; La..
[+]MYOCLONIC EPILEPSY OF LAFORA; Lafora's disease; Lafora Progressive Myoclonic Epilepsy;
[-]
|
A progressive myoclonus epilepsy characterized by .. [+]A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
[-]
|
|
|
|
Lambert-Eaton myasthenic syndrome
|
Eaton-Lambert syndrome; Lambert-Eaton syndrome; LE..
[+]Eaton-Lambert syndrome; Lambert-Eaton syndrome; LEMS;
[-]
|
A neuromuscular junction disease that is character.. [+]A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
[-]
|
1 articles
|
|
|
Landau-Kleffner syndrome
|
acquired epileptic aphasia;
|
A childhood electroclinical syndrome that is chara.. [+]A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.
[-]
|
1 articles
|
|
|
Langerhans cell sarcoma
|
|
A histiocytic and dendritic cell cancer that deriv.. [+]A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones.
[-]
|
|
|
|
Langerhans-cell histiocytosis
|
Histiocytosis X; Langerhans cell granulomatosis; L..
[+]Histiocytosis X; Langerhans cell granulomatosis; Letterer-Siwe disease; Letterer-Siwe disease involving intra-abdominal lymph nodes; Letterer-Siwe disease involving intrapelvic lymph nodes; Letterer-Siwe disease involving lymph nodes of axilla and upper limb; Letterer-Siwe disease involving lymph nodes of head, face and neck; Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb; Letterer-Siwe disease involving lymph nodes of multiple sites; Letterer-Siwe disease involving spleen; Letterer-Siwe disease of intra-abdominal lymph nodes; Letterer-Siwe disease of intrapelvic lymph nodes; Letterer-Siwe disease of intrapelvic lymph nodes (disorder); Letterer-Siwe disease of intrathoracic lymph nodes; Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder); Letterer-Siwe disease of lymph nodes of axilla and/or upper limb; Letterer-Siwe disease of lymph nodes of head, face and neck (disorder); Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder); Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb; Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder); Letterer-Siwe disease of lymph nodes of multiple sites; Letterer-Siwe disease of lymph nodes of multiple sites (disorder); Letterer-Siwe disease of spleen; Letterer-Siwe disease of spleen (disorder); Langerhan's cell histiocytosis (disorder); Letterer-Siwe disease involving intrathoracic lymph nodes; Letterer-Siwe disease involving lymph nodes of head, face, and neck; Letterer-Siwe disease of intra-abdominal lymph nodes (disorder); Letterer-Siwe disease of intrathoracic lymph nodes (disorder); Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder); Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder); Langerhan's cell histiocytosis; Letterer-Siwe disease of lymph nodes of axilla and upper limb; Letterer-Siwe disease of lymph nodes of head, face and neck; Letterer-Siwe disease of lymph nodes of head, face and/or neck; Letterer-Siwe disease of lymph nodes of inguinal region and lower limb; Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb;
[-]
|
A histiocytosis that is characterized by clonal pr.. [+]A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
[-]
|
|
|
|
Laron syndrome
|
Laron-type isolated somatotropin defect (disorder)..
[+]Laron-type isolated somatotropin defect (disorder); Laron-type isolated somatotropin defect;
[-]
|
A syndrome characterized by marked short stature w.. [+]A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.
[-]
|
|
|
|
Larsen syndrome
|
dominant larsen syndrome;
|
A syndrome that is characterized by autosomal domi.. [+]A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities.
[-]
|
|
|
|
Larsen-like syndrome B3GAT3 type
|
Larsen-like syndrome, B3GAT3 type; multiple joint ..
[+]Larsen-like syndrome, B3GAT3 type; multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome;
[-]
|
A syndrome that is characterized by laxity, disloc.. [+]A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.
[-]
|
|
|
|
Lassa fever
|
|
A viral infectious disease that results_in infecti.. [+]A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.
[-]
|
|
|
|
Laurence-Moon syndrome
|
Laurence-Moon-Biedl syndrome; LNMS;
|
A syndrome characterized by pituitary dysfunction,.. [+]A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2.
[-]
|
|
|
|
Laurin-Sandrow syndrome
|
miccor hands and feet with nasal defects; MIPdupli..
[+]miccor hands and feet with nasal defects; MIPduplication of fibuland ulna with absence of tibia and radius; mirror hands and feets-nasal defects syndrome; mirror-image polydactyly; Sandrow syndrome; tetramelic mirror-image polydactyly; TMIP;
[-]
|
A dysostosis characterized by polysyndactyly of ha.. [+]A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
[-]
|
|
|
|
Leber congenital amaurosis
|
LCA; Leber's amaurosis; Leber's disease; Leber's c..
[+]LCA; Leber's amaurosis; Leber's disease; Leber's congenital amaurosis;
[-]
|
A retinal disease that is characterized by nystagm.. [+]A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
[-]
|
1 articles
|
|
|
Leber congenital amaurosis 1
|
amaurosis congenita of Leber I; LCA1;
|
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 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 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 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 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 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 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 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 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.
[-]
|
|
|
|
Leber congenital amaurosis 2
|
amaurosis congenita of Leber II; LCA2;
|
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 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 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 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 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.
[-]
|
|
|
|
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 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 with early-onset deafness
|
LCAEOD;
|
A sensory system disease characterized by early-on.. [+]A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3.
[-]
|
|
|
|
Leber hereditary optic neuropathy
|
Leber's hereditary optic neuropathy; Leber's optic..
[+]Leber's hereditary optic neuropathy; Leber's optic atrophy (disorder); Leber's optic atrophy;
[-]
|
n_a
|
|
|
|
Leber hereditary optic neuropathy and dystonia
|
Leber optic atrophy and dystonia; Leber optic atro..
[+]Leber optic atrophy and dystonia; Leber optic atrophy with dystonia; Marsden syndrome; LDYT; familial dystonia with visual failure and striatal lucencies;
[-]
|
A Leber plus disease characterized by Leber heredi.. [+]A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.
[-]
|
|
|
|
Leber hereditary optic neuropathy with demyelinating disease of CNS
|
|
A Leber plus disease characterized by Leber heredi.. [+]A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system.
[-]
|
|
|
|
Leber plus disease
|
LHON plus disease;
|
A syndrome characterized by Leber's hereditary opt.. [+]A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.
[-]
|
|
|
|
Legg-Calve-Perthes disease
|
Juvenile osteochond-hip/pelvis; juvenile osteochon..
[+]Juvenile osteochond-hip/pelvis; juvenile osteochondrosis of hip and pelvis; Juvenile osteochondrosis of hip and/or pelvis (disorder); Legg-Calve-Perthes symptom; osteochondrosis of Legg-Calve-Perthes; Perthe's disease; Perthes disease; Coxa plana; Calve - Perthes' disease; Juvenile osteochondrosis of hip and/or pelvis; pseudocoxalgia; Pseudocoxalgia;
[-]
|
An osteochondrosis that results_in death and fract.. [+]An osteochondrosis that results_in death and fracture located_in hip joint.
[-]
|
|
|
|
Legionnaires' disease
|
(Legionella) or (Legionnaire's disease); Infection..
[+](Legionella) or (Legionnaire's disease); Infection by Legionella pneumophilia (disorder); Legionella pneumonia (disorder); Legionella; Legionella pneumonia; Legionnaire's disease; Infection by Legionella pneumophilia;
[-]
|
A legionellosis that is characterized by severe fo.. [+]A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
[-]
|
|
|
|
Legius syndrome
|
LGSS; neurofibromatosis type 1-like syndrome; NF1-..
[+]LGSS; neurofibromatosis type 1-like syndrome; NF1-like syndrome;
[-]
|
A RASopathy characterized by multiple cafe-au-lait.. [+]A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.
[-]
|
|
|
|
Leigh disease
|
juvenile subacute necrotizing encephalomyelopathy;..
[+]juvenile subacute necrotizing encephalomyelopathy; Leigh syndrome; Infantile necrotizing encephalomyelopathy; subacute necrotizing encephalomyelopathy;
[-]
|
A cytochrome-c oxidase deficiency disease characte.. [+]A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
[-]
|
1 articles
|
|
|
Lemierre's syndrome
|
Lemierre syndrome; postanginal sepsis; human necro..
[+]Lemierre syndrome; postanginal sepsis; human necrobacillosis; acute sore throat;
[-]
|
A commensal bacterial infectious disease that is c.. [+]A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling.
[-]
|
|
|
|
Lennox-Gastaut syndrome
|
Lennox syndrome;
|
A childhood electroclinical syndrome that is chara.. [+]A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood.
[-]
|
3 articles
|
|
|
Lenz-Majewski hyperostotic dwarfism
|
Lenz-Majewski syndrome;
|
A syndrome characterized by intellectual disabilit.. [+]A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1.
[-]
|
|
|
|
Leri-Weill dyschondrosteosis
|
|
An osteochondrodysplasia characterized by abnormal.. [+]An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain.
[-]
|
1 articles
|
|
|
Lesch-Nyhan syndrome
|
deficiency of IMP pyrophosphorylase; HG-PRT defici..
[+]deficiency of IMP pyrophosphorylase; HG-PRT deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch-Nyhan syndrome (disorder); X-linked hyperuricemia (disorder) [Ambiguous]; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency; X-linked hyperuricemia; Hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch - Nyhan syndrome;
[-]
|
A purine-pyrimidine metabolic disorder characteriz.. [+]A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.
[-]
|
|
|
|
Lewy body dementia
|
Diffuse Lewy body disease (disorder); Senile demen..
[+]Diffuse Lewy body disease (disorder); Senile dementia of the Lewy body type (disorder); Diffuse Lewy body disease; Lewy body disease; Senile dementia of the Lewy body type; Dementia with Lewy bodies;
[-]
|
A dementia that is characterized by the developmen.. [+]A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.
[-]
|
|
|
