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Disease Synonyms Description Articles Phenotypes
IGSF1 deficiency syndrome
central hypothyroidism and testicular enlargement;.. [+]
An X-linked disease characterized by hypothyroidis..[+]
IMAGe syndrome
intrauterine growth restriction, metaphyseal dyspl.. [+]
A syndrome that is characterized by intrauterine g..[+]
ITM2B-related cerebral amyloid angiopathy 1
Cerebral Amyloid Angiopathy, British Type; Familia.. [+]
A cerebral amyloid angiopathy characterized by ons..[+]
ITM2B-related cerebral amyloid angiopathy 2
Cerebellar Ataxia, Cataract, Deafness, and Dementi.. [+]
A cerebral amyloid angiopathy characterized by ata..[+]
IgA glomerulonephritis
Berger's IgA or IgG nephropathy; Focal Glomerulone.. [+]
A glomerulonephritis characterized by build up of ..[+]
Indian plum allergy
Ziziphus mauritiana fruit allergy;
A fruit allergy triggered by Ziziphus mauritiana p..[+]
Indian prawn allergy
Fenneropenaeus indicus allergy;
A crustacean allergy triggered by Fenneropenaeus i..[+]
Indian tick typhus
A spotted fever that has_material_basis_in Rickett..[+]
Israeli tick typhus
Israeli spotted fever;
A spotted fever that has_material_basis_in Rickett..[+]
JMP syndrome
JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC A.. [+]
A syndrome that is characterized by childhood onse..[+]
Jaccoud's syndrome
Jaccoud syndrome;
n_a
Jackson-Weiss syndrome
craniosynostosis-midfacial hypoplasia-foot abnorma.. [+]
A syndrome characterized by craniosynostosis, midf..[+]
Jacobsen Syndrome
chromosome 11q deletion syndrome; Jacobsen distal .. [+]
A chromosomal deletion syndrome that is characteri..[+]
Jansen's metaphyseal chondrodysplasia
Jansen Disease; Jansen metaphyseal chondrodysplasi.. [+]
A metaphyseal dysplasia that has_material_basis_in..[+]
Japanese encephalitis
Japanese B encephalitis;
A viral infectious disease that results_in infecti..[+]
Japanese spotted fever
oriental spotted fever; Rickettsia japonica spotte.. [+]
A spotted fever that has_material_basis_in Rickett..[+]
Jensen syndrome
opticoacoustic nerve atrophy with dementia;
A syndrome that is characterized by sensorineural ..[+]
Jervell-Lange Nielsen syndrome
Jervell and Lange-Nielson syndrome (disorder);
n_a
Jewett-Marshall bladder cancer
Jewett-Marshall stage D1 bladder cancer; Jewett-Ma.. [+]
n_a
Job's syndrome
hyperimmunoglobulin E syndrome; Job syndrome;
n_a
Johanson-Blizzard syndrome
Johanson-Blizzard syndrome (disorder);
An autosomal recessive disease that involves abnor..[+]
Joubert syndrome
JBTS;
A ciliopathy that is characterized by congenital m..[+]
Joubert syndrome 1
cerebellooculorenal syndrome 1; cerebelloparenchym.. [+]
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 10
JBTS10;
A Joubert syndrome that has_material_basis_in X-li..[+]
Joubert syndrome 13
JBTS13;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 14
JBTS14;
A Joubert syndrome characterized by severe mental ..[+]
Joubert syndrome 15
JBTS15;
A Joubert syndrome characterized by ataxia, hypoto..[+]
Joubert syndrome 16
JBTS16;
A Joubert syndrome characterized by molar tooth si..[+]
Joubert syndrome 17
JBTS17;
A Joubert syndrome characterized by episodic hyper..[+]
Joubert syndrome 18
JBTS18;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 2
cerebellooculorenal syndrome 2; CORS2; JBTS2;
A Joubert syndrome characterized by molar tooth si..[+]
Joubert syndrome 20
JBTS20;
A Joubert syndrome that has_material_basis_in comp..[+]
Joubert syndrome 21
JBTS21;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 22
JBTS22;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 23
JBTS23;
A Joubert syndrome characterized by delayed develo..[+]
Joubert syndrome 24
JBTS24;
A Joubert syndrome characterized by delayed psycho..[+]
Joubert syndrome 25
JBTS25;
A Joubert syndrome characterized by delayed psycho..[+]
Joubert syndrome 26
JBTS26;
A Joubert syndrome characterized by global develop..[+]
Joubert syndrome 27
JBTS27;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 28
JBTS28;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 3
JBTS3;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 4
JBTS4;
A Joubert syndrome that has_material_basis_in dele..[+]
Joubert syndrome 5
JBTS5;
A Joubert syndrome that has_material_basis_in muta..[+]
Joubert syndrome 6
JBTS6;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome 7
JBTS7;
A Joubert syndrome that has_material_basis_in muta..[+]
Joubert syndrome 8
JBTS8;
A Joubert syndrome that has_material_basis_in muta..[+]
Joubert syndrome 9
JBTS9;
A Joubert syndrome that has_material_basis_in homo..[+]
Joubert syndrome with orofaciodigital defect
OFD6; orofaciodigital syndrome VI; Varadi syndrome.. [+]
A Joubert syndrome that is characterized by orofac..[+]
KBG syndrome
A syndrome that is characterized by short stature,..[+]
Kabuki syndrome
Kabuki make up syndrome; KMS; Niikawa-Kuroki syndr.. [+]
A syndrome characterized by multiple congenital a..[+]

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