Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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IGSF1 deficiency syndrome |
central hypothyroidism and testicular enlargement;..
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An X-linked disease characterized by hypothyroidis..[+]
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IMAGe syndrome |
intrauterine growth restriction, metaphyseal dyspl..
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A syndrome that is characterized by intrauterine g..[+]
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ITM2B-related cerebral amyloid angiopathy 1 |
Cerebral Amyloid Angiopathy, British Type; Familia..
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A cerebral amyloid angiopathy characterized by ons..[+]
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ITM2B-related cerebral amyloid angiopathy 2 |
Cerebellar Ataxia, Cataract, Deafness, and Dementi..
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A cerebral amyloid angiopathy characterized by ata..[+]
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IgA glomerulonephritis |
Berger's IgA or IgG nephropathy; Focal Glomerulone..
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A glomerulonephritis characterized by build up of ..[+]
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Indian plum allergy |
Ziziphus mauritiana fruit allergy;
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A fruit allergy triggered by Ziziphus mauritiana p..[+]
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Indian prawn allergy |
Fenneropenaeus indicus allergy;
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A crustacean allergy triggered by Fenneropenaeus i..[+]
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Indian tick typhus |
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A spotted fever that has_material_basis_in Rickett..[+]
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Israeli tick typhus |
Israeli spotted fever;
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A spotted fever that has_material_basis_in Rickett..[+]
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JMP syndrome |
JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC A..
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A syndrome that is characterized by childhood onse..[+]
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Jaccoud's syndrome |
Jaccoud syndrome;
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n_a
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Jackson-Weiss syndrome |
craniosynostosis-midfacial hypoplasia-foot abnorma..
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A syndrome characterized by craniosynostosis, midf..[+]
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Jacobsen Syndrome |
chromosome 11q deletion syndrome; Jacobsen distal ..
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A chromosomal deletion syndrome that is characteri..[+]
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Jansen's metaphyseal chondrodysplasia |
Jansen Disease; Jansen metaphyseal chondrodysplasi..
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A metaphyseal dysplasia that has_material_basis_in..[+]
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Japanese encephalitis |
Japanese B encephalitis;
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A viral infectious disease that results_in infecti..[+]
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Japanese spotted fever |
oriental spotted fever; Rickettsia japonica spotte..
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A spotted fever that has_material_basis_in Rickett..[+]
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Jensen syndrome |
opticoacoustic nerve atrophy with dementia;
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A syndrome that is characterized by sensorineural ..[+]
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Jervell-Lange Nielsen syndrome |
Jervell and Lange-Nielson syndrome (disorder);
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n_a
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Jewett-Marshall bladder cancer |
Jewett-Marshall stage D1 bladder cancer; Jewett-Ma..
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n_a
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Job's syndrome |
hyperimmunoglobulin E syndrome; Job syndrome;
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n_a
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Johanson-Blizzard syndrome |
Johanson-Blizzard syndrome (disorder);
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An autosomal recessive disease that involves abnor..[+]
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Joubert syndrome |
JBTS;
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A ciliopathy that is characterized by congenital m..[+]
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Joubert syndrome 1 |
cerebellooculorenal syndrome 1; cerebelloparenchym..
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome 10 |
JBTS10;
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A Joubert syndrome that has_material_basis_in X-li..[+]
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Joubert syndrome 13 |
JBTS13;
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome 14 |
JBTS14;
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A Joubert syndrome characterized by severe mental ..[+]
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Joubert syndrome 15 |
JBTS15;
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A Joubert syndrome characterized by ataxia, hypoto..[+]
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Joubert syndrome 16 |
JBTS16;
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A Joubert syndrome characterized by molar tooth si..[+]
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Joubert syndrome 17 |
JBTS17;
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A Joubert syndrome characterized by episodic hyper..[+]
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Joubert syndrome 18 |
JBTS18;
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome 2 |
cerebellooculorenal syndrome 2; CORS2; JBTS2;
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A Joubert syndrome characterized by molar tooth si..[+]
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Joubert syndrome 20 |
JBTS20;
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A Joubert syndrome that has_material_basis_in comp..[+]
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Joubert syndrome 21 |
JBTS21;
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome 22 |
JBTS22;
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome 23 |
JBTS23;
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A Joubert syndrome characterized by delayed develo..[+]
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Joubert syndrome 24 |
JBTS24;
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A Joubert syndrome characterized by delayed psycho..[+]
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Joubert syndrome 25 |
JBTS25;
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A Joubert syndrome characterized by delayed psycho..[+]
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Joubert syndrome 26 |
JBTS26;
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A Joubert syndrome characterized by global develop..[+]
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Joubert syndrome 27 |
JBTS27;
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome 28 |
JBTS28;
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A Joubert syndrome that has_material_basis_in homo..[+]
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Joubert syndrome 3 |
JBTS3;
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A Joubert syndrome that has_material_basis_in homo..[+]
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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; orofaciodigital syndrome VI; Varadi syndrome..
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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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Kabuki syndrome |
Kabuki make up syndrome; KMS; Niikawa-Kuroki syndr..
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A syndrome characterized by multiple congenital a..[+]
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