| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Joubert syndrome 4
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JBTS4;
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A Joubert syndrome that has_material_basis_in dele.. [+]A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13.
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Joubert syndrome 5
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JBTS5;
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A Joubert syndrome that has_material_basis_in muta.. [+]A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.
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Joubert syndrome 6
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JBTS6;
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A Joubert syndrome that has_material_basis_in homo.. [+]A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.
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Joubert syndrome 7
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JBTS7;
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A Joubert syndrome that has_material_basis_in muta.. [+]A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2.
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Joubert syndrome 8
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JBTS8;
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A Joubert syndrome that has_material_basis_in muta.. [+]A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2
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Joubert syndrome 9
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JBTS9;
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A Joubert syndrome that has_material_basis_in homo.. [+]A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.
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Joubert syndrome with orofaciodigital defect
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OFD6; Varadi-Papp syndrome; Polydactyly cleft lip ..
[+]OFD6; Varadi-Papp syndrome; Polydactyly cleft lip palate psychomotor retardation; Varadi syndrome; orofaciodigital syndrome VI;
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A Joubert syndrome that is characterized by orofac.. [+]A Joubert syndrome that is characterized by orofaciodigital defect.
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KBG syndrome
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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.
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KINSSHIP syndrome
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AFF3-related mesomelic dysplasia; KINS; Steichen-G..
[+]AFF3-related mesomelic dysplasia; KINS; Steichen-Gersdorf type mesomelic dysplasia;
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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.
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Kabuki syndrome
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Kabuki make up syndrome; Niikawa-Kuroki syndrome; ..
[+]Kabuki make up syndrome; Niikawa-Kuroki syndrome; KMS;
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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.
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4 articles
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27 matches
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Kagami-Ogata syndrome
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KOS;
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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.
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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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2 articles
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Kanzaki disease
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adult-onset alpha-N-acetylgalactosaminidase defici..
[+]adult-onset alpha-N-acetylgalactosaminidase deficiency; alpha-N-acetylgalactosaminidase deficiency type 2; NAGA deficiency type 2;
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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.
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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; central nervous system Kaposi's sarcoma; Conjunctival Kaposi's sarcoma; Corneal Kaposi's sarcoma; Cutaneous Kaposi's sarcoma; cutaneous Kaposi's sarcoma; esophageal Kaposi's sarcoma; gallbladder Kaposi's sarcoma; Kaposi sarcoma; Kaposi's sarcoma of conjunctiva (disorder); Kaposi's sarcoma of cornea (disorder); 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 palate (disorder); Kaposi's sarcoma of penis; 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 gallbladder; Kaposi's sarcoma, lung; Kaposi's sarcoma-associated herpesvirus (KSHV); lymphadenopathic Kaposi's sarcoma; palate Kaposi's sarcoma; prostate Kaposi's sarcoma; soft tissue Kaposi's sarcoma; Kaposi's sarcoma of anus; Kaposi's sarcoma of esophagus; Kaposi's sarcoma of lymph nodes (disorder); Kaposi's sarcoma of the CNS; Kaposi's sarcoma, skin; pulmonary Kaposi's sarcoma; cardiac Kaposi's sarcoma; conjunctival Kaposi's sarcoma; corneal Kaposi's sarcoma; intestinal Kaposi's sarcoma; Kaposi's sarcoma of central nervous system; Kaposi's sarcoma of conjunctiva; Kaposi's sarcoma of cornea; Kaposi's sarcoma of palate; Kaposi's sarcoma of skin; Kaposi's sarcoma of soft tissue; Kaposi's sarcoma of the prostate; lymph node Kaposi's sarcoma; Palate Kaposi's sarcoma; penis Kaposi's sarcoma; gastric Kaposi's sarcoma; Kaposi's sarcoma of lung; 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; oculocerebrofacial syndrome, Kaufman type; KOS;
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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 mucocutaneous lymph node syndrome [M..
[+]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 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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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..
[+]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..
[+]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..
[+]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 ..
[+]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..
[+]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..
[+]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..
[+]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 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..
[+]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..
[+]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..
[+]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_physical_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..
[+]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..
[+]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..
[+]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..
[+]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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