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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
Kawasaki disease
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acute febrile mucocutaneous lymph node syndrome [M..
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acute febrile mucocutaneous lymph node syndrome [MCLS]; MLNS; mucocutaneous lymph node syndrome; Kawasaki's disease; acute febrile mucocutaneous lymph node syndrome; acute febrile MCLS;
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A lymphadenitis characterized by swelling of cervi.. [+]
A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.
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Kearns-Sayre syndrome
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Kearns-Sayre syndrome (disorder);
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n_a
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Keipert syndrome
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KPTS; nasodigitoacoustic syndrome;
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A syndrome characterized by craniofacial and digit.. [+]
A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2.
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Kennedy's disease
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Kennedy disease; SBMA; spinal bulbar muscular atro..
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Kennedy disease; SBMA; spinal bulbar muscular atrophy; X-Linked Bulbo-Spinal Atrophy; X-linked Spinal and Bulbar Muscular Atrophy; Spinobulbar Muscular Atrophy;
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A spinal muscular dystrophy that has_material_basi.. [+]
A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
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1 articles
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Kenny-Caffey syndrome
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A syndrome that is characterized by growth retarda.. [+]
A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.
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Kenny-Caffey syndrome type 1
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A Kenny-Caffey syndrome that has_material_basis_in.. [+]
A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
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Kenny-Caffey syndrome type 2
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A Kenny-Caffey syndrome that has_material_basis_in.. [+]
A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12.
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Keshan disease
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A nutritional deficiency that is disease character.. [+]
A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.
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Kimura disease
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Kimura's disease;
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n_a
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Kindler syndrome
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hereditary acrokeratotic poikiloderma of Kindler-W..
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hereditary acrokeratotic poikiloderma of Kindler-Weary; poikiloderma of Kindler;
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A skin disease characterized by congenital blister.. [+]
A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
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King Denborough syndrome
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A myopathy that is characterized by distinctive fa.. [+]
A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.
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Klatskin's tumor
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hilar cholangiocarcinoma; Klatskin tumor; Klatskin..
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hilar cholangiocarcinoma; Klatskin tumor; Klatskin tumour; Perihilar extrahepatic bile duct carcinoma; hilar cholangiocellular carcinoma; Klatskin's tumour;
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An intrahepatic cholangiocarcinoma arising near or.. [+]
An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.
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Klebsiella pneumonia
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Pneumonia due to Klebsiella pneumoniae; Pneumonia ..
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Pneumonia due to Klebsiella pneumoniae; Pneumonia due to Klebsiella pneumoniae (disorder);
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A bacterial pneumonia involving Klebsiella pneumon.. [+]
A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis.
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Kleefstra syndrome
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A syndrome that is characterized by developmental .. [+]
A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
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Kleefstra syndrome 1
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9q-syndrome; 9q34 deletion syndrome; 9q subtelomer..
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9q-syndrome; 9q34 deletion syndrome; 9q subtelomeric deletion syndrome;
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A Kleefstra syndrome that is characterized by seve.. [+]
A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
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Kleefstra syndrome 2
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A Kleefstra syndrome that is characterized by dela.. [+]
A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36.
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Kleine-Levin syndrome
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A recurrent hypersomnia that is characterized by r.. [+]
A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
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Klinefelter syndrome
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Klinefelter syndrome; XXY syndrome; XXY trisomy; H..
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Klinefelter syndrome; XXY syndrome; XXY trisomy; Hypogonadotropic Hypogonadism; 47, XXY; Klinefelter's syndrome;
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A chromosomal duplication syndrome that is charact.. [+]
A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men.
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Klippel-Feil syndrome
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autosomal dominant Klippel-Feil syndrome; congenit..
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autosomal dominant Klippel-Feil syndrome; congenital synostosis of cervical vertebrae; congenital dystrophia brevicollis; Klippel-Feil and Turner syndrome; Klippel-Feil deformity, deafness and facial asymmetry;
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A physical disorder that is characterized by abnor.. [+]
A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
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1 articles
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Klippel-Feil syndrome 1
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A Klippel-Feil syndrome that has_material_basis_in.. [+]
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
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Klippel-Feil syndrome 2
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A Klippel-Feil syndrome that has_material_basis_in.. [+]
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21.
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Klippel-Feil syndrome 3
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A Klippel-Feil syndrome that has_material_basis_in.. [+]
A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13.
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Klippel-Feil syndrome 4
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A Klippel-Feil syndrome that has_material_basis_in.. [+]
A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.
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Klippel-Trenaunay syndrome
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Haemangiectatic hypertrophy; Klippel-Trenaunay-Web..
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Haemangiectatic hypertrophy; Klippel-Trenaunay-Weber syndrome; angioosteohypertrophy syndrome;
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A syndrome that is characterized by large cutaneou.. [+]
A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
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Kluver-Bucy syndrome
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Klver-Bucy syndrome;
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An impulse control disorder that involves abnormal.. [+]
An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior.
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Kniest dysplasia
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An osteochondrodysplasia that has_material_basis_i.. [+]
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
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Kohler's disease
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Kohler disease; Juvenile osteochondrosis of foot;
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An osteochondrosis that results_in death and colla.. [+]
An osteochondrosis that results_in death and collapse located_in navicular bone of foot.
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Kohlschutter-Tonz syndrome
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amelocerebrohypohidrotic syndrome; epilepsy and ye..
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amelocerebrohypohidrotic syndrome; epilepsy and yellow teeth; epilepsy dementia amelogenesis imperfecta; Kohlschutter's syndrome; KTZS; epilepsy-dementia-amelogenesis imperfecta syndrome;
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A syndrome characterized by severe global developm.. [+]
A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.
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Koolen de Vries syndrome
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KANSL1-related intellectual disability syndrome; K..
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KANSL1-related intellectual disability syndrome; KdVS; Koolen-De Vries syndrome; 17q21.31 microdeletion syndrome;
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A syndrome that is characterized by developmental .. [+]
A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
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Korean hemorrhagic fever
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A hemorrhagic fever with renal syndrome that resul.. [+]
A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
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Krabbe disease
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beta galactocerebrosidase deficiency; Galactosylce..
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beta galactocerebrosidase deficiency; Galactosylceramide beta-galactosidase deficiency (disorder); GLOBOID CELL LEUKOENCEPHALOPATHY; Krabbe's leukodystrophy; globoid cell leukodystrophy; Galactosylceramide beta-galactosidase deficiency; Diffuse globoid body sclerosis; Krabbe's disease;
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n_a
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Krukenberg carcinoma
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Krukenberg neoplasm; Krukenberg tumor;
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An ovary epithelial cancer that is a metastatic si.. [+]
An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue.
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Kufor-Rakeb syndrome
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autosomal recessive Parkinson disease 9; autosomal..
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autosomal recessive Parkinson disease 9; autosomal recessive juvenile onset Parkinson disease 9;
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An early-onset Parkinson's disease that is charact.. [+]
An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36.
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Kuhnt-Junius degeneration
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Exudative senile macular degeneration of retina; S..
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Exudative senile macular degeneration of retina; Senile macular degeneration, wet; Neovascular age-related macular degeneration; Wet senile macular retinal degeneration;
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n_a
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Kummell's disease
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Kummell's spondylitis; Traumatic spondylopathy; Ku..
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Kummell's spondylitis; Traumatic spondylopathy; Kummell disease;
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n_a
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Kunjin encephalitis
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A West Nile encephalitis that results_in infection.. [+]
A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
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Kyasanur forest disease
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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.
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L-2-hydroxyglutaric aciduria
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L-2-HYDROXYGLUTARIC ACIDEMIA;
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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).
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L-cell glucagon-like peptide producing tumor
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n_a
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LADD syndrome
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Lacrimo-auriculo-dento-digital (LADD) syndrome; la..
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Lacrimo-auriculo-dento-digital (LADD) syndrome; lacrimoauriculodentodigital syndrome;
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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.
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La Crosse encephalitis
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California Encephalitis; Neuroinvasive California ..
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California Encephalitis; Neuroinvasive California encephalitis virus infection; California virus encephalitis;
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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.
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Lafora disease
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MYOCLONIC EPILEPSY OF LAFORA; Lafora's disease; La..
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MYOCLONIC EPILEPSY OF LAFORA; Lafora's disease; Lafora Progressive Myoclonic Epilepsy;
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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.
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Lambert-Eaton myasthenic syndrome
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Eaton-Lambert syndrome; Lambert-Eaton syndrome; LE..
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Eaton-Lambert syndrome; Lambert-Eaton syndrome; LEMS;
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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.
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1 articles
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Landau-Kleffner syndrome
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acquired epileptic aphasia;
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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.
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1 articles
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Langerhans cell sarcoma
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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.
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Langerhans-cell histiocytosis
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Histiocytosis X; Langerhans cell granulomatosis; L..
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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;
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A histiocytosis that is characterized by clonal pr.. [+]
A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
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Laron syndrome
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Laron-type isolated somatotropin defect (disorder)..
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Laron-type isolated somatotropin defect (disorder); Laron-type isolated somatotropin defect;
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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.
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Larsen syndrome
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dominant larsen syndrome;
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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.
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Larsen-like syndrome B3GAT3 type
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Larsen-like syndrome, B3GAT3 type; multiple joint ..
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Larsen-like syndrome, B3GAT3 type; multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome;
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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.
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Lassa fever
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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.
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