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Disease	Synonyms	Description	Articles
lymph node tuberculosis	king's evil; Lymph Node Tuberculosis; Tuberculous .. [+] king's evil; Lymph Node Tuberculosis; Tuberculous adenitis; scrofula; Tuberculous lymphadenopathy [-]	An extrapulmonary tuberculosis that is located_in ..[+] An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. [-]
rectum Kaposi's sarcoma	Kaposi's sarcoma of rectum; rectum Kaposi sarcoma; .. [+] Kaposi's sarcoma of rectum; rectum Kaposi sarcoma [-]	A sarcoma of the rectum that results_in lesions th..[+] A sarcoma of the rectum that results_in lesions that are located_in the rectum. [-]
Baastrup's syndrome	Kissing spine; Baastrup syndrome	n_a
leukoplakia of penis	Kraurosis of penis; Penile Leukoplakia	n_a
tinea nigra	Keratomycosis nigricans; Tinea palmaris nigra; mic.. [+] Keratomycosis nigricans; Tinea palmaris nigra; microsporosis nigra; Infection by Cladosporium werneckii [-]	A superficial mycosis that is a superficial fungal..[+] A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. [-]
visceral leishmaniasis	Kala-Azar; Infection by visceral leishmaniasis	A leishmaniasis that is the most severe form of th..[+] A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. [-]
maple syrup urine disease	Ketoacidaemia; branched chain ketoaciduria; dihydr.. [+] Ketoacidaemia; branched chain ketoaciduria; dihydrolipoamide dehydrogenase deficiency [-]	An organic acidemia that is caused by a deficiency..[+] An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. [-]
acute hydrops keratoconus	Keratoconus, acute hydrops	A keratoconus that is characterized by stromal ede..[+] A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane. [-]
stable condition keratoconus	Keratoconus, stable condition	n_a
amnestic disorder	Korsakoff's psychosis or syndrome; amnesia; Amnest.. [+] Korsakoff's psychosis or syndrome; amnesia; Amnestic syndrome [-]	A cognitive disorder where the memory is disturbed..[+] A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. [-]
Wernicke-Korsakoff syndrome	Korsakov's psychosis; Korsakoff's psychosis; Korsa.. [+] Korsakoff's psychosis; Korsakov's psychosis; Korsakov psychosis; Korsakoff's syndrome; Korsakoff's psychosis (disorder); Korsakoff Syndrome [-]	A nutritional deficiency disease that is character..[+] A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. [-]
neurocirculatory asthenia	Krishaber's disease; Cardiovascular malfunction ar.. [+] Krishaber's disease; Cardiovascular malfunction arising from mental factors; Da Costa's syndrome; Cardiovascular neurosis [-]	A somatoform disorder that involves heart disease ..[+] A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. [-]
juvenile spinal muscular atrophy	Kugelberg-Welander disease; SMA3; Spinal muscular .. [+] Kugelberg-Welander disease; SMA3; Spinal muscular atrophy, familial; Type III Spinal Muscular Atrophy; spinal muscular atrophy of childhood; Spinal Muscular Atrophy Type 3 [-]	A childhood spinal muscular atrophy that has age o..[+] A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. [-]
autistic disorder	Kanner's syndrome; autism; autistic disorder of ch.. [+] Kanner's syndrome; autism; autistic disorder of childhood onset; childhood autism; infantile autism [-]	An autism spectrum disorder that is characterized ..[+] An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. [-]	3 articles
acquired hyperkeratosis	Keratoderma, acquired; Keratoderma - acquired; acq.. [+] Keratoderma - acquired; Keratoderma, acquired; acquired Keratoderma; acquired keratoderma (disorder); acquired keratoderma NOS; acquired keratoderma; acquired keratoderma NOS (disorder) [-]	n_a
scrub typhus	Kedani fever; Chigger-borne typhus; Mite-borne typ.. [+] Kedani fever; Chigger-borne typhus; Mite-borne typhus; Scrub mite-borne typhus; Tsutsugamushi; Tsutsugamushi disease; Typhus fever due to Rickettsia tsutsugamushi; Tropical typhus; Mite-borne rickettsiosis; Chigger-borne rickettsiosis; Japanese river fever; Scrub (mite-borne) typhus; Tsutsugamushi fever [-]	A typhus that has_material_basis_in Orientia tsuts..[+] A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. [-]
boutonneuse fever	kenya tick typhus; Kenyan tick typhus; Kenya fever.. [+] Kenyan tick typhus; kenya tick typhus; Kenya fever; african tick typhus; African tick typhus (disorder); Boutonneuse disease; Mediterranean spotted fever; Mediterranean tick fever; South African tick-bite fever (disorder); African tick typhus; marseilles fever; South African tick-bite fever; Rickettsia conorii spotted fever; Conor and Bruch's disease [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
propionic acidemia	KETOTIC HYPERGLYCINEMIA; ketotic II glycinemia; ke.. [+] ketotic II glycinemia; KETOTIC HYPERGLYCINEMIA; ketotic glycinemia; GLYCINEMIA, KETOTIC; propionyl-CoA carboxylase deficiency; propionic aciduria [-]	An organic acidemia that involes a nonfunctional p..[+] An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. [-]
FG syndrome	Keller syndrome; Opitz-Kaveggia syndrome	A syndrome characterized by retardation, hyperacti..[+] A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. [-]
brittle cornea syndrome 1	Kyphoscoliosis type; brittle cornea syndrome 2; ty.. [+] Kyphoscoliosis type; brittle cornea syndrome 2; type VIB Ehlers-Danlos syndrome [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. [-]
quinidine allergy	Kinidin allergy	A drug allergy that has_allergic_trigger quinidine..[+] A drug allergy that has_allergic_trigger quinidine. [-]
familial partial lipodystrophy	Koberling-Dunnigan Syndrome; Dunnigan Syndrome	A partial lipodystrophy characterized by abnormal ..[+] A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. [-]
intestinal schistosomiasis	Katayama fever; Schistosoma japonicum infection; s.. [+] Katayama fever; Schistosoma japonicum infection; schistosomiasis japonica; Schistosoma mansoni infectious disease [-]	A schistosomiasis that involves parasitic infectio..[+] A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. [-]
Bart-Pumphrey syndrome	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFN.. [+] KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS [-]	A syndrome that is characterized by leukonychia, w..[+] A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. [-]	1 articles
spondyloepiphyseal dysplasia with congenital joint dislocations	Kozlowski Celermajer Tink syndrome; CHST3-Related .. [+] Kozlowski Celermajer Tink syndrome; CHST3-Related Skeletal Dysplasia; Humero-spinal dysostosis with congenital heart disease; Humerospinal Dysostosis; Humerospinal dysostosis; Omani Type; Spondyloepiphyseal Dysplasia; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; humero-spinal dysostosis; humerospinal dysostosis [-]	A spondyloepiphyseal dysplasia that is characteriz..[+] A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [-]
peeling skin syndrome	keratosis exfoliativa congenita; deciduous skin; f.. [+] keratosis exfoliativa congenita; deciduous skin; familial continuous skin peeling syndrome; peeling skin disease; PSS [-]	A skin disease that is characterized by the painle..[+] A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. [-]
hyperekplexia	Kok disease; congenital stiff man syndrome; famili.. [+] Kok disease; congenital stiff man syndrome; familial startle disease; hereditary hyperekplexia; startle disease [-]	A nervous system disease characterized by an exagg..[+] A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. [-]	6 articles
mal de Meleda	keratosis palmoplantaris transgrediens of Siemens; .. [+] keratosis palmoplantaris transgrediens of Siemens; transgrediens palmoplantar keratoderma of Siemens; Meleda disease [-]	A palmoplantar keratosis characterized by autosoma..[+] A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. [-]
SMARCB1-deficient renal medullary carcinoma	kidney medullary carcinoma; medullary carcinoma of.. [+] kidney medullary carcinoma; medullary carcinoma of the kidney; medullary renal cell carcinoma; RMC; renal medullary carcinoma [-]	A renal cell carcinoma that develops in the renal ..[+] A renal cell carcinoma that develops in the renal medulla. [-]
Peters plus syndrome	Krause-Kivlin syndrome; Peters anomaly-short limb .. [+] Krause-Kivlin syndrome; Peters anomaly-short limb dwarfism syndrome; Peters-plus syndrome [-]	A syndrome that is characterized by anterior chamb..[+] A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. [-]
developmental and epileptic encephalopathy 7	KCNQ2-related neonatal epileptic encephalopathy; K.. [+] KCNQ2-related neonatal epileptic encephalopathy; KCNQ2-related epileptic encephalopathy; early infantile epileptic encephalopathy 7 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. [-]
autosomal dominant nonsyndromic deafness 1	Konigsmark syndrome; autosomal dominant deafness 1.. [+] Konigsmark syndrome; autosomal dominant deafness 1; DFNA1; hereditary low frequency hearing loss 1; autosomal dominant deafness 1, with or without thrombocytopenia; LFHL1 [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. [-]
hereditary spastic paraplegia 15	Kjellin syndrome; hereditary spastic paraparesis t.. [+] Kjellin syndrome; hereditary spastic paraparesis type 15; autosomal recessive spastic paraplegia 15; autosomal recessive spastic paraplegia type 15; spastic paraplegia and retinal degeneration; spastic paraplegia-retinal degeneration syndrome; SPG15 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. [-]
Waardenburg syndrome type 3	Klein-Waardenburg syndrome; Waardenburg syndrome w.. [+] Klein-Waardenburg syndrome; Waardenburg syndrome with upper limb anomalies; WS3; Waardenburg syndrome type III [-]	A Waardenburg syndrome characterized by upper limb..[+] A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. [-]
congenital muscular dystrophy-dystroglycanopathy type A	klissencephaly type 2 with muscular and ocular inv.. [+] klissencephaly type 2 with muscular and ocular involvement; congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; MDDGA [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. [-]
palmoplantar keratoderma and congenital alopecia 1	keratoderma-hypotrichosis-leukonychia totalis synd.. [+] keratoderma-hypotrichosis-leukonychia totalis syndrome; autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; autosomal dominant palmoplantar keratoderma and congenital alopecia; palmoplantar keratoderma and congenital alopecia, Stevanovic type; PPK-CA, Stevanovic type; PPKCA Stevanovic type; PPKCA1 [-]	An ectodermal dysplasia characterized by autosomal..[+] An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. [-]
McKusick-Kaufman syndrome	Kaufman McKusick syndrome; HMCS; hydrometrocolpos,.. [+] Kaufman McKusick syndrome; HMCS; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; hydrometrocolpos-postaxial polydactyly syndrome; hydrometrocolpos syndrome; MKKS [-]	A syndrome characterized by neonatal onset of geni..[+] A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. [-]
Vohwinkel syndrome	keratoderma hereditarium mutilans; KHM; congenital.. [+] KHM; keratoderma hereditarium mutilans; congenital deafness with keratopachydermia and constrictions fo fingers and toes; mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness; VOWNKL; PPK mutilans and deafness [-]	A syndrome characterized by severe, honeycomb-patt..[+] A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. [-]
palmoplantar keratoderma-deafness syndrome	keratoderma palmoplantar deafness; palmoplantar ke.. [+] keratoderma palmoplantar deafness; palmoplantar keratoderma with deafness; PPK-deafness syndrome; palmoplantar keratoderma-hearing loss syndrome; palmoplantar hyperkeratosis-hearing loss syndrome; palmoplantar hyperkeratosis-deafness syndrome [-]	A syndrome characterized by sensorineural hearing ..[+] A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. [-]
palmoplantar keratoderma-esophageal carcinoma syndrome	keratosis palmoplantaris-esophageal carcinoma synd.. [+] keratosis palmoplantaris-esophageal carcinoma syndrome; keratosis palmaris et plantaris with esophageal cancer; Bennion-Patterson syndrome; Howell-Evans syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; palmoplantar keratoderma with esophageal cancer; TOC; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome [-]	A syndrome characterized by palmoplantar keratoder..[+] A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. [-]
neurogenic scapuloperoneal syndrome Kaeser type	Kaeser syndrome; scapuloperoneal syndrome type Kae.. [+] Kaeser syndrome; scapuloperoneal syndrome type Kaeser; Stark-Kaeser syndrome; scapuloperoneal syndrome, neurogenic, Kaeser type [-]	A myopathy characterized by adult onset of foot do..[+] A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. [-]
Schopf-Schulz-Passarge syndrome	keratosis palmoplantaris-cystic eyelids-hypodontia.. [+] keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; SSPS; eccrine tumors-ectodermal dysplasia; palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome [-]	An ectodermal dysplasia characterized by multiple ..[+] An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. [-]
essential fructosuria	ketohexokinase deficiency; fructokinase deficiency.. [+] ketohexokinase deficiency; fructokinase deficiency; hepatic fructokinase deficiency [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. [-]
HRPT-related hyperuricemia	Kelley-Seegmiller syndrome; HPRT deficiency, grade.. [+] Kelley-Seegmiller syndrome; HPRT deficiency, grade I; HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; HPRT1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; hypoxanthine guanine phosphoribosyltransferase partial deficiency [-]	A hyperuricemia characterized by excessive purine ..[+] A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. [-]
severe congenital neutropenia 3	Kostmann disease; Kostmann syndrome; infantile agr.. [+] Kostmann syndrome; Kostmann disease; infantile agranulocytosis; SCN3 [-]	A severe congenital neutropenia characterized by b..[+] A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. [-]
multiple benign circumferential skin creases on limbs	Kunze-Riehm syndrome; CCSF; circumferential skin c.. [+] Kunze-Riehm syndrome; CCSF; circumferential skin creases, Kunze type; congenital circumferential skin folds [-]	A skin disease characterized by benign circumferen..[+] A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. [-]
hydroxykynureninuria	kynureninase deficiency; xanthurenic aciduria	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. [-]

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