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Disease	Synonyms	Description
Joubert syndrome 28	JBTS28	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. [-]
Joubert syndrome 3	JBTS3	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. [-]
Joubert syndrome 4	JBTS4	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. [-]
Joubert syndrome 5	JBTS5	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. [-]
Joubert syndrome 6	JBTS6	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. [-]
Joubert syndrome 7	JBTS7	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. [-]
Joubert syndrome 8	JBTS8	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. [-]
Joubert syndrome 9	JBTS9	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. [-]
juvenile absence epilepsy 1	JAE1; EJA1	A juvenile absence epilepsy that has_material_basi..[+] A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. [-]
juvenile myoclonic epilepsy 10	EJM10	A juvenile myoclonic epilepsy that has_material_ba..[+] A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. [-]
juvenile myoclonic epilepsy 3	EJM3	A juvenile myoclonic epilepsy that has_material_ba..[+] A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. [-]
juvenile myoclonic epilepsy 4	EJM4	A juvenile myoclonic epilepsy that has_material_ba..[+] A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. [-]
juvenile myoclonic epilepsy 9	EJM9	A juvenile myoclonic epilepsy that has_material_ba..[+] A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. [-]
Jackson-Weiss syndrome	JWS; craniosynostosis-midfacial hypoplasia-foot ab.. [+] JWS; craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome [-]	A syndrome characterized by craniosynostosis, midf..[+] A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. [-]
Jalili syndrome	Cone rod dystrophy-amelogenesis imperfecta syndrom.. [+] Cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy and amelogenesis imperfecta [-]	A syndrome characterized by amelogenesis imperfect..[+] A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. [-]
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome	JP-HHT	A syndrome characterized by hamartomatous polyps i..[+] A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2. [-]
Jacobsen Syndrome	Jacobsen distal 11q deletion syndrome; chromosome .. [+] Jacobsen distal 11q deletion syndrome; chromosome 11q deletion syndrome; partial 11q monosomy syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. [-]
arthropathy	Joint ankylosis of the shoulder region; Joint anky.. [+] Joint ankylosis of the shoulder region; Joint ankylosis of the ankle and/or foot; Joint ankylosis of the pelvic region and thigh (disorder); Joint ankylosis of the upper arm (disorder); Joint ankylosis of the upper arm; Joint ankylosis of the shoulder region (disorder); Joint ankylosis of the pelvic region and thigh; Joint ankylosis of the lower leg (disorder); Joint ankylosis of the lower leg; Joint ankylosis of the hand; Joint ankylosis of the forearm (disorder); Joint ankylosis of the forearm; Joint ankylosis of the ankle and/or foot (disorder); Joint ankylosis of the ankle and foot; ankylosis of forearm joint; ankylosis of hand joint; Ankylosis of joint of ankle and/or foot (disorder); Ankylosis of joint of forearm (disorder); Ankylosis of joint of hand (disorder); ankylosis of joint of multiple sites; Ankylosis of joint of multiple sites (disorder); ankylosis of joint of pelvic region and thigh; Ankylosis of joint of upper arm (disorder); ankylosis of lower leg joint; ankylosis of upper arm joint; Ankylosis of joint of lower leg (disorder); Ankylosis of joint of shoulder region (disorder); ankylosis of ankle and foot joint; Ankylosis of joint of ankle and/or foot; Ankylosis of joint of forearm; Ankylosis of joint of hand; Ankylosis of joint of multiple sites; Ankylosis of joint of shoulder region; Ankylosis of multiple joints; Infectious arthropathy; Ankylosis of joint of lower leg; ankylosis of joint of shoulder region; Ankylosis of joint of upper arm [-]	A bone disease that is located_in the joint.
biotinidase deficiency	Juvenile-onset multiple carboxylase deficiency; BT.. [+] Juvenile-onset multiple carboxylase deficiency; BTD deficiency; deficiency of biotinidase (disorder); Late-onset multiple carboxylase deficiency; deficiency of biotinidase [-]	A multiple carboxylase deficiency that involves a ..[+] A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. [-]
aggressive periodontitis	juvenile periodontitis	A periodontitis that is characterized by rapid att..[+] A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. [-]

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