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Disease	Synonyms	Description
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 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 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. [-]
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. [-]
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 upper arm (disorder); Joint.. [+] Joint ankylosis of the upper arm (disorder); Joint ankylosis of the upper arm; Joint ankylosis of the shoulder region (disorder); Joint ankylosis of the shoulder region; Joint ankylosis of the pelvic region and thigh (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 ankle and foot joint; 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 lower leg (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 shoulder region; Ankylosis of joint of shoulder region (disorder); Ankylosis of joint of upper arm (disorder); ankylosis of lower leg joint; Ankylosis of multiple joints; ankylosis of upper arm joint; Infectious arthropathy [-]	A bone inflammation disease that is located_in joi..[+] A bone inflammation disease that is located_in 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 of breast; Juvenile fibroade.. [+] juvenile fibroadenoma of breast; Juvenile fibroadenoma (morphologic abnormality); cellular Fibroadenoma; Complex Fibroadenoma of breast; Fibroadenoma; fibroadenoma; Fibroadenoma of breast (disorder) [-]	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; Congenital vascular naevus; Infantile hemangioma; Strawberry haemangioma; Strawberry nevus; Strawberry nevus of skin (disorder) [-]	n_a
childhood astrocytic tumor	juvenile astrocytoma; Juvenile astrocytoma (morpho.. [+] juvenile astrocytoma; Juvenile astrocytoma (morphologic abnormality); Juvenile astrocytoma; pediatric astrocytoma [-]	n_a
Leigh disease	juvenile subacute necrotizing encephalomyelopathy; .. [+] juvenile subacute necrotizing encephalomyelopathy; Infantile necrotizing encephalomyelopathy; Leigh syndrome; subacute necrotizing encephalomyelopathy [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism 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. [-]
breast secretory carcinoma	Juvenile Secretory carcinoma of breast; Juvenile c.. [+] Juvenile Secretory carcinoma of breast; Juvenile carcinoma of the breast (morphologic abnormality); juvenile carcinoma of the breast; juvenile breast carcinoma [-]	n_a
breast juvenile papillomatosis	Juvenile papillomatosis of the breast	n_a
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; Sylvatic yellow fever; urban .. [+] jungle yellow fever; Sylvatic yellow fever; urban yellow fever; Yellow fever, sylvan [-]	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. [-]
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 [-]	n_a
typhus	Jail fever; Classical typhus (fever); endemic flea.. [+] Jail fever; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; epidemic louse-borne typhus; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; European typhus; Exanthematic Typhus fever; Exanthematous typhus; Famine fever; Flea typhus; Flea-borne rickettsiosis; Flea-borne typhus; Hospital fever; Louse-borne [epidemic] typhus; Louse-borne rickettsiosis; Louse-borne typhus; Mexican typhus; Moscow typhus; Murine [endemic] typhus; Murine typhus; Petechial fever; Prison fever; Rat flea typhus; Ship fever; Shop typhus; Typhus exanthematique; Typhus fever; Urban typhus [-]	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; Creutzfeldt-Jacob disease; Subacute spongiform encephalopathy; Transmissible virus dementia (disorder) [-]	n_a
idiopathic juvenile osteoporosis	juvenile osteoporosis; Idiopathic osteoporosis (di.. [+] juvenile osteoporosis; Idiopathic osteoporosis (disorder) [-]	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 rickettsiosis; .. [+] Japanese river fever; Chigger-borne rickettsiosis; Chigger-borne typhus; Kedani fever; Mite-borne rickettsiosis; Mite-borne typhus; Scrub (mite-borne) typhus; Scrub mite-borne typhus; Tropical typhus; Tsutsugamushi; Tsutsugamushi disease; Tsutsugamushi fever; Typhus fever due to Rickettsia tsutsugamushi [-]	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 (dis.. [+] Juvenile osteochondrosis of hip and/or pelvis (disorder); juvenile osteochondrosis of hip and pelvis; Juvenile osteochond-hip/pelvis; Calve - Perthes' disease; Coxa plana; Legg-Calve-Perthes symptom; osteochondrosis of Legg-Calve-Perthes; Perthe's disease; 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 Type 1; PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE [-]	n_a
spondylocostal dysostosis	Jarcho-Levin syndrome; spondylocostal dysostosis, .. [+] Jarcho-Levin syndrome; spondylocostal dysostosis, autosomal recessive 3; spondylothoracic dysostosis; spondylothoracic 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; short-rib thoracic dysplasia with .. [+] Jeune syndrome; short-rib thoracic dysplasia with or without polydactyly; thoracic pelvic phalangeal dystrophy [-]	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. [-]
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. [-]
Blau syndrome	Jabs syndrome; ARTHROCUTANEOUVEAL GRANULOMATOSIS	An autosomal dominant disease characterized by fam..[+] An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes. [-]
Meesmann corneal dystrophy	juvenile hereditary epithelial dystrophy; MECD; St.. [+] juvenile hereditary epithelial dystrophy; MECD; Stocker-Holt dystrophy [-]	n_a
early infantile epileptic encephalopathy 9	Juberg Hellman syndrome; early infantile female-li.. [+] Juberg Hellman syndrome; early infantile female-limited epilecptic encephalopathy; EFMR; EIEE9; female restricted epilepsy with mental retardation [-]	An infantile epileptic encephalopathy that has_mat..[+] An infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
Schmid metaphyseal chondrodysplasia	Japanese type spondylometaphyseal dysplasia; Schmi.. [+] Japanese type spondylometaphyseal dysplasia; Schmid type metaphyseal dysplasia [-]	A metaphyseal dysplasia that results_in dwarfism a..[+] A metaphyseal dysplasia that results_in dwarfism and bowed legs. [-]

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