Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Joubert syndrome 4 |
JBTS4;
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A Joubert syndrome that has_material_basis_in dele..[+]
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Joubert syndrome 5 |
JBTS5;
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A Joubert syndrome that has_material_basis_in muta..[+]
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Joubert syndrome 6 |
JBTS6;
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome 7 |
JBTS7;
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A Joubert syndrome that has_material_basis_in muta..[+]
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Joubert syndrome 8 |
JBTS8;
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A Joubert syndrome that has_material_basis_in muta..[+]
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Joubert syndrome 9 |
JBTS9;
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome with orofaciodigital defect |
OFD6; Varadi-Papp syndrome; Polydactyly cleft lip ..
[+]
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A Joubert syndrome that is characterized by orofac..[+]
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KBG syndrome |
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A syndrome that is characterized by short stature,..[+]
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KINSSHIP syndrome |
AFF3-related mesomelic dysplasia; KINS; Steichen-G..
[+]
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A syndrome characterized by developmental delay, i..[+]
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Kabuki syndrome |
Kabuki make up syndrome; Niikawa-Kuroki syndrome; ..
[+]
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A syndrome characterized by multiple congenital an..[+]
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4 articles | 27 matches |
Kagami-Ogata syndrome |
KOS;
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A syndrome characterized by polyhydramnios, fetal ..[+]
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Kahrizi syndrome |
intellectual disability, Kahrizi type; intellectua..
[+]
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A syndrome that is characterized by mental retarda..[+]
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Kallmann syndrome |
familial hypogonadism with anosmia; Hypogonadism w..
[+]
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A hypogonadotropic hypogonadism with a defective s..[+]
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2 articles | |
Kanzaki disease |
adult-onset alpha-N-acetylgalactosaminidase defici..
[+]
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A Schindler disease characterized by adult-onset o..[+]
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Kaposi's sarcoma |
African lymphadenopathic Kaposi's sarcoma; anal Ka..
[+]
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A connective tissue cancer that derives_from lymph..[+]
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Kartagener syndrome |
Kartagener's syndrome;
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A primary ciliary dyskinesia that is characterized..[+]
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Kaufman oculocerebrofacial syndrome |
blepharophimosis ptosis intellectual disability sy..
[+]
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A syndromic intellectual disability characterized ..[+]
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Kawasaki disease |
acute febrile mucocutaneous lymph node syndrome [M..
[+]
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A lymphadenitis characterized by swelling of cervi..[+]
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Kearns-Sayre syndrome |
Kearns-Sayre syndrome (disorder);
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n_a
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Keipert syndrome |
KPTS; nasodigitoacoustic syndrome;
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A syndrome characterized by craniofacial and digit..[+]
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Kennedy's disease |
Kennedy disease; SBMA; spinal bulbar muscular atro..
[+]
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A spinal muscular dystrophy that has_material_basi..[+]
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1 articles | |
Kenny-Caffey syndrome |
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A syndrome that is characterized by growth retarda..[+]
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Kenny-Caffey syndrome type 1 |
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A Kenny-Caffey syndrome that has_material_basis_in..[+]
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Kenny-Caffey syndrome type 2 |
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A Kenny-Caffey syndrome that has_material_basis_in..[+]
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Keshan disease |
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A nutritional deficiency that is disease character..[+]
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Kimura disease |
Kimura's disease;
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n_a
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Kindler syndrome |
hereditary acrokeratotic poikiloderma of Kindler-W..
[+]
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A skin disease characterized by congenital blister..[+]
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King Denborough syndrome |
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A myopathy that is characterized by distinctive fa..[+]
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Klatskin's tumor |
hilar cholangiocarcinoma; Klatskin tumor; Klatskin..
[+]
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An intrahepatic cholangiocarcinoma arising near or..[+]
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Klebsiella pneumonia |
Pneumonia due to Klebsiella pneumoniae; Pneumonia ..
[+]
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A bacterial pneumonia involving Klebsiella pneumon..[+]
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Kleefstra syndrome |
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A syndrome that is characterized by developmental ..[+]
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Kleefstra syndrome 1 |
9q-syndrome; 9q34 deletion syndrome; 9q subtelomer..
[+]
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A Kleefstra syndrome that is characterized by seve..[+]
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Kleefstra syndrome 2 |
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A Kleefstra syndrome that is characterized by dela..[+]
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Kleine-Levin syndrome |
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A recurrent hypersomnia that is characterized by r..[+]
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Klinefelter syndrome |
Klinefelter syndrome; XXY syndrome; XXY trisomy; H..
[+]
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A chromosomal duplication syndrome that is charact..[+]
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Klippel-Feil syndrome |
autosomal dominant Klippel-Feil syndrome; congenit..
[+]
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A physical disorder that is characterized by abnor..[+]
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1 articles | |
Klippel-Feil syndrome 4 |
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A Klippel-Feil syndrome that has_material_basis_in..[+]
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Klippel-Trenaunay syndrome |
Haemangiectatic hypertrophy; Klippel-Trenaunay-Web..
[+]
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A syndrome that is characterized by large cutaneou..[+]
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Kluver-Bucy syndrome |
Klver-Bucy syndrome;
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An impulse control disorder that involves abnormal..[+]
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Kniest dysplasia |
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An osteochondrodysplasia that has_material_basis_i..[+]
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Kohler's disease |
Kohler disease; Juvenile osteochondrosis of foot;
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An osteochondrosis that results_in death and colla..[+]
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Kohlschutter-Tonz syndrome |
amelocerebrohypohidrotic syndrome; epilepsy and ye..
[+]
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A syndrome characterized by severe global developm..[+]
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Koolen de Vries syndrome |
KANSL1-related intellectual disability syndrome; K..
[+]
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A syndrome that is characterized by developmental ..[+]
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Korean hemorrhagic fever |
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A hemorrhagic fever with renal syndrome that resul..[+]
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Krabbe disease |
beta galactocerebrosidase deficiency; Galactosylce..
[+]
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n_a
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Krukenberg carcinoma |
Krukenberg neoplasm; Krukenberg tumor;
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An ovary epithelial cancer that is a metastatic si..[+]
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Kufor-Rakeb syndrome |
autosomal recessive Parkinson disease 9; autosomal..
[+]
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An early-onset Parkinson's disease that is charact..[+]
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Kuhnt-Junius degeneration |
Exudative senile macular degeneration of retina; S..
[+]
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n_a
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Kummell's disease |
Kummell's spondylitis; Traumatic spondylopathy; Ku..
[+]
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n_a
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Kunjin encephalitis |
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A West Nile encephalitis that results_in infection..[+]
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