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Disease	Synonyms	Description	Articles
Joubert syndrome 2	JBTS2; cerebellooculorenal syndrome 2; CORS2	A Joubert syndrome characterized by molar tooth si..[+] A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. [-]
Joubert syndrome 20	JBTS20	A Joubert syndrome that has_material_basis_in comp..[+] A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. [-]
Joubert syndrome 21	JBTS21	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. [-]
Joubert syndrome 22	JBTS22	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. [-]
Joubert syndrome 23	JBTS23	A Joubert syndrome characterized by delayed develo..[+] A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. [-]
Joubert syndrome 24	JBTS24	A Joubert syndrome characterized by delayed psycho..[+] A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. [-]
Joubert syndrome 25	JBTS25	A Joubert syndrome characterized by delayed psycho..[+] A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. [-]
Joubert syndrome 26	JBTS26	A Joubert syndrome characterized by global develop..[+] A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. [-]
Joubert syndrome 27	JBTS27	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. [-]
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. [-]
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. [-]
breast fibroadenoma	Juvenile fibroadenoma; juvenile fibroadenoma of br.. [+] Juvenile fibroadenoma; juvenile fibroadenoma of breast; Juvenile fibroadenoma (morphologic abnormality); Complex Fibroadenoma of breast; fibroadenoma; Fibroadenoma of breast (disorder); cellular Fibroadenoma; Fibroadenoma; Fibroadenoma of breast [-]	A breast benign neoplasm comprised of fibrous and ..[+] A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. [-]
capillary hemangioma	Juvenile hemangioma; Capillary hemangioma (disorde.. [+] Juvenile hemangioma; Capillary hemangioma (disorder); Capillary hemangioma (morphologic abnormality); cellular hemangioma of Infancy (Strawberry nevus); Congenital vascular hamartoma; Infantile hemangioma; Strawberry haemangioma; Strawberry nevus; Congenital vascular naevus; Strawberry nevus of skin (disorder); Capillary hemangioma; cellular hemangioma of Infancy; Strawberry nevus of skin; Capillary haemangioma [-]	A hemangioma that is characterized by the presence..[+] A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. [-]
childhood astrocytic tumor	Juvenile astrocytoma; juvenile astrocytoma; Juveni.. [+] juvenile astrocytoma; Juvenile astrocytoma; Juvenile astrocytoma (morphologic abnormality); pediatric astrocytoma [-]	n_a
hyper IgE recurrent infection syndrome 1	Job syndrome; Job's syndrome; hyperimmunoglobulin .. [+] Job's syndrome; Job syndrome; hyperimmunoglobulin E syndrome [-]	A hyper IgE syndrome that has_material_basis_in he..[+] A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. [-]
parosteal osteosarcoma	juxtacortical osteosarcoma; Parosteal Osteogenic s.. [+] juxtacortical osteosarcoma; Parosteal Osteogenic sarcoma; Parosteal Osteosarcoma [-]	n_a
Leigh disease	juvenile subacute necrotizing encephalomyelopathy; .. [+] juvenile subacute necrotizing encephalomyelopathy; Leigh syndrome; Infantile necrotizing encephalomyelopathy; subacute necrotizing encephalomyelopathy [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. [-]	1 articles
breast secretory carcinoma	Juvenile carcinoma of the breast; juvenile breast .. [+] Juvenile carcinoma of the breast; juvenile breast carcinoma; Juvenile Secretory carcinoma of breast; Juvenile carcinoma of the breast (morphologic abnormality); juvenile carcinoma of the breast [-]	A breast adenocarcinoma that has_material_basis_in..[+] A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm. [-]
breast juvenile papillomatosis	Juvenile papillomatosis of the breast	A breast benign neoplasm that is characterized by ..[+] A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. [-]
Osgood-Schlatter's disease	juvenile osteochondrosis of tibial tubercle; Osgoo.. [+] juvenile osteochondrosis of tibial tubercle; Osgood-Schlatter disease; Osteochondritis of tibial tubercle; Osteochondrosis of proximal tibia [-]	A bone inflammation disease that involves rupture ..[+] A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. [-]
yellow fever	jungle yellow fever; urban yellow fever; Yellow fe.. [+] jungle yellow fever; urban yellow fever; Yellow fever, sylvan; Sylvatic yellow fever [-]	A viral infectious disease that results in infecti..[+] A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. [-]	1 articles
late congenital syphilis	juvenile neurosyphilis	A congenital syphilis that occurs in children at o..[+] A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. [-]
neuroretinitis	Juxtapapillary focal retinitis AND retinochoroidit.. [+] Juxtapapillary focal retinitis AND retinochoroiditis; Focal retinitis and retinochoroiditis, juxtapapillary; Papilloretinitis [-]	An eye disease that is characterized by inflammati..[+] An eye disease that is characterized by inflammation of the retina. [-]
typhus	Jail fever; Classical typhus (fever); endemic flea.. [+] Jail fever; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; Exanthematic Typhus fever; Exanthematous typhus; Flea-borne rickettsiosis; Louse-borne [epidemic] typhus; Louse-borne typhus; Murine typhus; Rat flea typhus; Shop typhus; Typhus fever; European typhus; Famine fever; Mexican typhus; Ship fever; Urban typhus; Classical typhus; epidemic louse-borne typhus; Flea typhus; Murine [endemic] typhus; Prison fever; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; Flea-borne typhus; Hospital fever; Louse-borne rickettsiosis; Moscow typhus; Petechial fever [-]	A primary bacterial infectious disease that refers..[+] A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. [-]
Kohler's disease	Juvenile osteochondrosis of foot; Kohler disease	An osteochondrosis that results_in death and colla..[+] An osteochondrosis that results_in death and collapse located_in navicular bone of foot. [-]
Creutzfeldt-Jakob disease	Jakob-Creutzfeldt disease; CJD (Creutzfeldt Jakob .. [+] Jakob-Creutzfeldt disease; CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob syndrome; Creutzfeldt Jakob disease; Transmissible virus dementia (disorder); Subacute spongiform encephalopathy; CJD; Transmissible virus dementia; Creutzfeldt-Jacob disease [-]	n_a
idiopathic juvenile osteoporosis	juvenile osteoporosis; Idiopathic osteoporosis (di.. [+] juvenile osteoporosis; Idiopathic osteoporosis (disorder); Idiopathic osteoporosis [-]	An osteoporosis with no known cause that is charac..[+] An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. [-]
Scheuermann's disease	Juvenile osteochondrosis of spine; Juvenile osteoc.. [+] Juvenile osteochondrosis of spine; Juvenile osteochondrosis of Scheurermann; Juvenile osteochondritis of the spine; Scheuermann disease; Scheuermann's kyphosis; Sherman's Disease [-]	An osteochondrosis that results_in abnormal bone g..[+] An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. [-]
scrub typhus	Japanese river fever; Chigger-borne typhus; Mite-b.. [+] Japanese river fever; Chigger-borne typhus; Mite-borne typhus; Scrub mite-borne typhus; Tsutsugamushi; Tsutsugamushi disease; Typhus fever due to Rickettsia tsutsugamushi; Kedani fever; Tropical typhus; Mite-borne rickettsiosis; Chigger-borne rickettsiosis; Scrub (mite-borne) typhus; Tsutsugamushi fever [-]	A typhus that has_material_basis_in Orientia tsuts..[+] A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. [-]
childhood type dermatomyositis	Juvenile dermatomyositis; childhood Dermatomyositi.. [+] Juvenile dermatomyositis; childhood Dermatomyositis [-]	n_a
Legg-Calve-Perthes disease	Juvenile osteochondrosis of hip and/or pelvis; Juv.. [+] Juvenile osteochondrosis of hip and/or pelvis; Juvenile osteochondrosis of hip and/or pelvis (disorder); juvenile osteochondrosis of hip and pelvis; Juvenile osteochond-hip/pelvis; Legg-Calve-Perthes symptom; osteochondrosis of Legg-Calve-Perthes; Perthe's disease; Perthes disease; Coxa plana; Calve - Perthes' disease; pseudocoxalgia; Pseudocoxalgia [-]	An osteochondrosis that results_in death and fract..[+] An osteochondrosis that results_in death and fracture located_in hip joint. [-]
dumping syndrome	Jejunal syndrome; Dumping (jejunal) syndrome	n_a
pachyonychia congenita	Jadassohn-Lewandowsky Syndrome; Jackson-Lawler Typ.. [+] Jadassohn-Lewandowsky Syndrome; Jackson-Lawler Type Pachyonychia Congenita; PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE; Pachyonychia Congenita Type 1 [-]	A syndrome that is characterized by hypertrophic n..[+] A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. [-]
proteasome-associated autoinflammatory syndrome 1	JMP syndrome; JOINT CONTRACTURES, MUSCULAR ATROPHY.. [+] JMP syndrome; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; CANDLE; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; Nakajo-Nishimura syndrome; NKJO; PRAAS1 [-]	A proteasome-associated autoinflammatory syndrome ..[+] A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21. [-]
spondylocostal dysostosis	Jarcho-Levin syndrome; spondylocostal dysostosis, .. [+] Jarcho-Levin syndrome; spondylocostal dysostosis, autosomal recessive 3; spondylothoracic dysostosis; spondylothoracic dysplasia; costovertebral dysplasia [-]	A dysostosis that results_in abnormal development ..[+] A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. [-]
asphyxiating thoracic dystrophy	Jeune syndrome; thoracic pelvic phalangeal dystrop.. [+] Jeune syndrome; thoracic pelvic phalangeal dystrophy; short-rib thoracic dysplasia with or without polydactyly [-]	A bone development disease characterized by skelet..[+] A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. [-]	1 articles
vitelliform macular dystrophy	juvenile-onset vitelliform macular dystrophy; Best.. [+] juvenile-onset vitelliform macular dystrophy; Best disease; Best macular dystrophy [-]	A macular degeneration that it is characterized by..[+] A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. [-]

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