| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Kahrizi syndrome
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intellectual disability, Kahrizi type; intellectua..
[+]intellectual disability, Kahrizi type; intellectual disability-cataract-coloboma-kyphosis syndrome; KHRZ;
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A syndrome that is characterized by mental retarda.. [+]A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
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Kallmann syndrome
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familial hypogonadism with anosmia; Hypogonadism w..
[+]familial hypogonadism with anosmia; Hypogonadism with anosmia (disorder); Kallman syndrome; Kallman's syndrome; Hypogonadism with anosmia;
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A hypogonadotropic hypogonadism with a defective s.. [+]A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
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Kaposi's sarcoma
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African lymphadenopathic Kaposi's sarcoma; anal Ka..
[+]African lymphadenopathic Kaposi's sarcoma; anal Kaposi's sarcoma; cardiac Kaposi's sarcoma; central nervous system Kaposi's sarcoma; Conjunctival Kaposi's sarcoma; conjunctival Kaposi's sarcoma; Corneal Kaposi's sarcoma; corneal Kaposi's sarcoma; Cutaneous Kaposi's sarcoma; cutaneous Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; gastric Kaposi's sarcoma; intestinal Kaposi's sarcoma; Kaposi sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva (disorder); Kaposi's sarcoma of cornea (disorder); Kaposi's sarcoma of esophagus; Kaposi's sarcoma of gastrointestinal sites; Kaposi's sarcoma of Heart; Kaposi's sarcoma of lung (disorder); Kaposi's sarcoma of lymph nodes; Kaposi's sarcoma of lymph nodes (disorder); Kaposi's sarcoma of palate (disorder); Kaposi's sarcoma of penis; Kaposi's sarcoma of skin; Kaposi's sarcoma of skin (disorder); Kaposi's sarcoma of soft tissue (disorder); Kaposi's sarcoma of soft tissues (disorder); Kaposi's sarcoma of the CNS; Kaposi's sarcoma of the gallbladder; Kaposi's sarcoma of the prostate; Kaposi's sarcoma, lung; Kaposi's sarcoma, skin; Kaposi's sarcoma-associated herpesvirus (KSHV); lymph node Kaposi's sarcoma; lymphadenopathic Kaposi's sarcoma; Palate Kaposi's sarcoma; palate Kaposi's sarcoma; penis Kaposi's sarcoma; prostate Kaposi's sarcoma; pulmonary Kaposi's sarcoma; soft tissue Kaposi's sarcoma; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of lung; Kaposi's sarcoma of palate; Kaposi's sarcoma of soft tissue; Kaposi's sarcoma of soft tissues;
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A connective tissue cancer that derives_from lymph.. [+]A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8).
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Kartagener syndrome
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Kartagener's syndrome;
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A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
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Kaufman oculocerebrofacial syndrome
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blepharophimosis ptosis intellectual disability sy..
[+]blepharophimosis ptosis intellectual disability syndrome; KOS; oculocerebrofacial syndrome, Kaufman type;
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A syndromic intellectual disability characterized .. [+]A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in the UBE3B gene on chromosome 12q24.11.
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Kawasaki disease
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acute febrile MCLS; acute febrile mucocutaneous ly..
[+]acute febrile MCLS; acute febrile mucocutaneous lymph node syndrome [MCLS]; Kawasaki's disease; MLNS; mucocutaneous lymph node syndrome;
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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 located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom 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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Kennedy's disease
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Kennedy disease; SBMA; spinal bulbar muscular atro..
[+]Kennedy disease; SBMA; spinal bulbar muscular atrophy; Spinobulbar Muscular Atrophy; X-Linked Bulbo-Spinal Atrophy; X-linked Spinal and Bulbar 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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Keshan disease
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n_a
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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..
[+]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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Klatskin's tumor
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hilar cholangiocarcinoma; Klatskin tumor; Perihila..
[+]hilar cholangiocarcinoma; Klatskin tumor; Perihilar extrahepatic bile duct carcinoma;
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n_a
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Kleefstra Syndrome
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9q subtelomeric deletion syndrome; 9q-syndrome; ch..
[+]9q subtelomeric deletion syndrome; 9q-syndrome; chromosome 9q34.3 deletion syndrome;
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An autosomal dominant non-syndromic intellectual d.. [+]An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
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Kleefstra syndrome
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9q subtelomeric deletion syndrome; 9q-syndrome; 9q..
[+]9q subtelomeric deletion syndrome; 9q-syndrome; 9q34 deletion syndrome;
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A syndrome characterized by childhood hypotonia, a.. [+]A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by 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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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's syndrome
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Hypogonadotropic Hypogonadism; Klinefelter syndrom..
[+]Hypogonadotropic Hypogonadism; Klinefelter syndrome; XXY syndrome; XXY trisomy;
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n_a
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Klippel-Feil syndrome
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autosomal dominant Klippel-Feil syndrome; congenit..
[+]autosomal dominant Klippel-Feil syndrome; congenital dystrophia brevicollis; congenital synostosis of cervical vertebrae; 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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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-Trenaunay syndrome
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angioosteohypertrophy syndrome; Haemangiectatic hy..
[+]angioosteohypertrophy syndrome; Haemangiectatic hypertrophy; Klippel-Trenaunay-Weber 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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Juvenile osteochondrosis of foot; Kohler disease;
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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..
[+]amelocerebrohypohidrotic syndrome; epilepsy and yellow teeth; epilepsy dementia amelogenesis imperfecta; epilepsy-dementia-amelogenesis imperfecta syndrome; Kohlschutter's syndrome; KTZS;
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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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17q21.31 microdeletion syndrome; KANSL1-related in..
[+]17q21.31 microdeletion syndrome; KANSL1-related intellectual disability syndrome; KdVS; Koolen-De Vries 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_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
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Koolen-De Vries syndrome
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chromosome 17q21.31 deletion syndrome; microdeleti..
[+]chromosome 17q21.31 deletion syndrome; microdeletion 17q21.31 syndrome;
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An autosomal dominant non-syndromic intellectual d.. [+]An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31.
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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; Diffuse glob..
[+]beta galactocerebrosidase deficiency; Diffuse globoid body sclerosis; Galactosylceramide beta-galactosidase deficiency (disorder); globoid cell leukodystrophy; GLOBOID CELL LEUKOENCEPHALOPATHY; Krabbe's disease; Krabbe's leukodystrophy;
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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 juvenile onset Parkinson disea..
[+]autosomal recessive juvenile onset Parkinson disease 9; autosomal recessive Parkinson disease 9;
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A disease that is characterized by supranuclear ga.. [+]A 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 (ATP13A2) on chromosome 1p36.
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Kuhnt-Junius degeneration
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Exudative senile macular degeneration of retina; N..
[+]Exudative senile macular degeneration of retina; Neovascular age-related macular degeneration; Senile macular degeneration, wet; Wet senile macular retinal degeneration;
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n_a
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Kummell's disease
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Kummell disease; Kummell's spondylitis; Traumatic ..
[+]Kummell disease; Kummell's spondylitis; Traumatic spondylopathy;
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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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lacrimoauriculodentodigital syndrome; LEVY-HOLLIST..
[+]lacrimoauriculodentodigital syndrome; LEVY-HOLLISTER SYNDROME;
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An autosomal dominant disease that is characterize.. [+]An autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
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LEOPARD syndrome
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Capute-Rimoin-Konigsmark-Esterly-Richardson syndro..
[+]Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Cardiocutaneous syndrome; Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Moynahan syndrome; Multiple lentigines syndrome (disorder); Progressive cardiomyopathic lentiginosis;
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n_a
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La Crosse encephalitis
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California Encephalitis; California virus encephal..
[+]California Encephalitis; California virus encephalitis; Neuroinvasive California encephalitis virus infection;
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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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Lafora Progressive Myoclonic Epilepsy; Lafora's di..
[+]Lafora Progressive Myoclonic Epilepsy; Lafora's disease; MYOCLONIC EPILEPSY OF LAFORA;
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n_a
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Lambert-Eaton myasthenic syndrome
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Eaton-Lambert syndrome; Lambert-Eaton syndrome; LE..
[+]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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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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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; Langerhan's cell histiocytosis (d..
[+]Histiocytosis X; Langerhan's cell histiocytosis (disorder); 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 intrathoracic 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 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 intra-abdominal lymph nodes (disorder); 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 intrathoracic lymph nodes (disorder); 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 axilla and/or upper limb (disorder); 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 inguinal region and/or 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);
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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)..
[+]Laron-type isolated somatotropin defect (disorder);
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n_a
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Larsen syndrome
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dominant larsen syndrome;
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An autosomal dominant disease that is characterize.. [+]An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.
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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 Lassa virus, 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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Laurence-Moon syndrome
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Laurence-Moon-Biedl syndrome;
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n_a
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Leber congenital amaurosis
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LCA; Leber's amaurosis; Leber's congenital amauros..
[+]LCA; Leber's amaurosis; Leber's congenital amaurosis; Leber's disease;
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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.
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Leber congenital amaurosis 1
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amaurosis congenita of Leber I; LCA1;
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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.
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