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Disease	Synonyms	Description	Articles	Phenotypes
keratoconjunctivitis sicca	KCS	n_a
Kearns-Sayre syndrome	Kearns-Sayre syndrome (disorder)	n_a
Klebsiella pneumonia	Pneumonia due to Klebsiella pneumoniae; Pneumonia .. [+] Pneumonia due to Klebsiella pneumoniae; Pneumonia due to Klebsiella pneumoniae (disorder) [-]	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. [-]
Kawasaki disease	Kawasaki's disease; acute febrile mucocutaneous ly.. [+] Kawasaki's disease; acute febrile mucocutaneous lymph node syndrome [MCLS]; MLNS; mucocutaneous lymph node syndrome; acute febrile mucocutaneous lymph node syndrome; acute febrile MCLS [-]	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. [-]
kwashiorkor	Kwashiokor; Nutritional edema with dyspigmentation.. [+] Kwashiokor; Nutritional edema with dyspigmentation of skin and hair; Nutritional oedema with dyspigmentation of skin and/or hair [-]	A protein-energy malnutrition that is characterize..[+] A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. [-]
KBG syndrome		A syndrome that is characterized by short stature,..[+] A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. [-]
ketoprofen photoallergic dermatitis	photoallergic dermatitis to Orudis	A photoallergic dermatitis that has_allergic_trigg..[+] A photoallergic dermatitis that has_allergic_trigger ketoprofen. [-]
Keshan disease		A nutritional deficiency that is disease character..[+] A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. [-]
Kartagener syndrome	Kartagener's syndrome	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. [-]
Kunjin encephalitis		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. [-]
Korean hemorrhagic fever		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. [-]
Kahrizi syndrome	KHRZ; intellectual disability, Kahrizi type; intel.. [+] KHRZ; intellectual disability, Kahrizi type; intellectual disability-cataract-coloboma-kyphosis syndrome [-]	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. [-]
Koolen de Vries syndrome	KdVS; Koolen-De Vries syndrome; KANSL1-related int.. [+] Koolen-De Vries syndrome; KdVS; KANSL1-related intellectual disability syndrome; 17q21.31 microdeletion syndrome [-]	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. [-]
Kennedy's disease	Kennedy disease; SBMA; spinal bulbar muscular atro.. [+] Kennedy disease; SBMA; spinal bulbar muscular atrophy; X-Linked Bulbo-Spinal Atrophy; X-linked Spinal and Bulbar Muscular Atrophy; Spinobulbar Muscular Atrophy [-]	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. [-]	1 articles
Kleine-Levin syndrome		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. [-]
Kleefstra syndrome 1	9q-syndrome; 9q34 deletion syndrome; 9q subtelomer.. [+] 9q-syndrome; 9q34 deletion syndrome; 9q subtelomeric deletion syndrome [-]	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. [-]
Kindler syndrome	hereditary acrokeratotic poikiloderma of Kindler-W.. [+] hereditary acrokeratotic poikiloderma of Kindler-Weary; poikiloderma of Kindler [-]	A skin disease characterized by congenital blister..[+] A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. [-]
Kabuki syndrome	Kabuki make up syndrome; KMS; Niikawa-Kuroki syndr.. [+] KMS; Kabuki make up syndrome; Niikawa-Kuroki syndrome [-]	A syndrome characterized by multiple congenital an..[+] A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. [-]	4 articles	27 matches
Kufor-Rakeb syndrome	autosomal recessive Parkinson disease 9; autosomal.. [+] autosomal recessive Parkinson disease 9; autosomal recessive juvenile onset Parkinson disease 9 [-]	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. [-]
karyomegalic interstitial nephritis	KMIN; KIN	An interstitial nephritis characterized by nephrit..[+] An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. [-]
Kniest dysplasia		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. [-]
Klippel-Feil syndrome 4		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. [-]
Kleefstra syndrome		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. [-]
Kleefstra syndrome 2		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. [-]
kidney cortex disease		A kidney disease that is located_in the kidney cor..[+] A kidney disease that is located_in the kidney cortex. [-]
Kenny-Caffey syndrome type 1		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. [-]
Kenny-Caffey syndrome type 2		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. [-]
Kenny-Caffey syndrome		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. [-]
keratosis pilaris atrophicans		An ichthyosis that is characterized by perifollicu..[+] An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. [-]
keratosis follicularis spinulosa decalvans		A keratosis pilaris atrophicans that is characteri..[+] A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. [-]
King Denborough syndrome		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. [-]
keratosis palmoplantaris striata 1		A keratosis palmoplantaris striata that is charact..[+] A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. [-]
keratosis palmoplantaris striata 2		A keratosis palmoplantaris striata that is charact..[+] A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. [-]
keratosis palmoplantaris striata 3		A keratosis palmoplantaris striata that has_materi..[+] A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. [-]
Kaufman oculocerebrofacial syndrome	KOS; blepharophimosis ptosis intellectual disabili.. [+] KOS; blepharophimosis ptosis intellectual disability syndrome; oculocerebrofacial syndrome, Kaufman type [-]	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. [-]
Kohlschutter-Tonz syndrome	Kohlschutter's syndrome; KTZS; amelocerebrohypohid.. [+] KTZS; Kohlschutter's syndrome; amelocerebrohypohidrotic syndrome; epilepsy and yellow teeth; epilepsy dementia amelogenesis imperfecta; epilepsy-dementia-amelogenesis imperfecta syndrome [-]	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. [-]
Kagami-Ogata syndrome	KOS	A syndrome characterized by polyhydramnios, fetal ..[+] A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. [-]
Keipert syndrome	KPTS; nasodigitoacoustic syndrome	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. [-]
Kanzaki disease	adult-onset alpha-N-acetylgalactosaminidase defici.. [+] adult-onset alpha-N-acetylgalactosaminidase deficiency; alpha-N-acetylgalactosaminidase deficiency type 2; NAGA deficiency type 2 [-]	A Schindler disease characterized by adult-onset o..[+] A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. [-]
KINSSHIP syndrome	KINS; AFF3-related mesomelic dysplasia; Steichen-G.. [+] KINS; AFF3-related mesomelic dysplasia; Steichen-Gersdorf type mesomelic dysplasia [-]	A syndrome characterized by developmental delay, i..[+] A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. [-]
nephrolithiasis	kidney stones; calculus of kidney and ureter; NEPH.. [+] kidney stones; calculus of kidney and ureter; NEPHROLITHIASIS, CALCIUM OXALATE; UROLITHIASIS, CALCIUM OXALATE; Stone - kidney/ureter [-]	A kidney disease characterized by the formation of..[+] A kidney disease characterized by the formation of stoney concentrations in the kidneys. [-]	5 articles
diabetic ketoacidosis	ketosis-prone diabetes mellitus; DIABETES MELLITUS.. [+] ketosis-prone diabetes mellitus; DIABETES MELLITUS, KETOSIS-PRONE [-]	A metabolic acidosis that is characterized by the ..[+] A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. [-]
Gaucher's disease	kerasin thesaurismosis; glocucerebrosidase deficie.. [+] kerasin thesaurismosis; glocucerebrosidase deficiency; lipoid histiocytosis (kerasin type); glucosylceramide beta-glucosidase deficiency; acid beta-glucosidase deficiency; Gaucher disease [-]	A sphingolipidosis characterized by deficiency of ..[+] A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. [-]
cystic kidney disease	KIDNEY CYST; renal Cyst	n_a	17 articles	6 matches
acanthosis nigricans	Keratosis nigricans; keratosis nigricans; Acanthos.. [+] keratosis nigricans; Keratosis nigricans; Acanthosis nigricans (disorder); Acanthosis nigricans; AN - Acanthosis nigricans [-]	A pigmentation disease characterized by velvety, d..[+] A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. [-]	1 articles
palmoplantar keratosis	Keratosis palmaris et plantaris; Palmoplantar Kera.. [+] Keratosis palmaris et plantaris; Palmoplantar Keratoderma; palmo-plantar keratodermas [-]	A keratosis characterized by abnormal thickening o..[+] A keratosis characterized by abnormal thickening of the palms and the soles. [-]
Turner syndrome	Karyotype 45, X; Gonadal dysgenesis - Turner; Mono.. [+] Karyotype 45, X; Gonadal dysgenesis - Turner; Monosomy X; XO syndrome; monosomy X syndrome; Bonnevie-Ullrich syndrome [-]	A gonadal dysgenesis that is characterized by shor..[+] A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. [-]	1 articles
renal carcinoma	kidney carcinoma; carcinoma of kidney	A kidney cancer that derives_from the lining of th..[+] A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). [-]
chromophobe renal cell carcinoma	kidney chromophobe; chromophobe adenocarcinoma; re.. [+] kidney chromophobe; chromophobe adenocarcinoma; renal cell carcinoma, chromophobe cell; Chromophobe carcinoma of kidney [-]	A renal cell carcinoma that has_material_basis_in ..[+] A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. [-]
Ollier disease	Kast's syndrome; DYSCHONDROPLASIA; ENCHONDROMATOSI.. [+] Kast's syndrome; DYSCHONDROPLASIA; ENCHONDROMATOSIS, MULTIPLE; OSTEOCHONDROMATOSIS; Enchondromatosis with haemangiomata [-]	A syndrome that is characterized by an asymmetric ..[+] A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. [-]

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