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Disease	Synonyms	Description	Articles
Huntington's disease-like 2	HDL2; Huntington disease-like 2;	A neurodegenerative disease characterized by invol..[+] A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. [-]
IDH-mutant anaplastic astrocytoma		An anaplastic astrocytoma carrying IDH mutations.
IDH-mutant and 1p/19q-codeleted oligodendroglioma	anaplastic oligodendroglioma, IDH-mutant and 1p/19.. [+] anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted; Oligodendroglioma, IDH-mutant and 1p/19q-codeleted; [-]	An anaplastic oligodendroglioma that has_material_..[+] An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). [-]
IDH-wildtype anaplastic astrocytoma		An anaplastic astrocytoma lacking mutations in IDH..[+] An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. [-]
IDH-wildtype glioblastoma		A glioblastoma that is characterized by high cellu..[+] A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. [-]
IGSF1 deficiency syndrome	CHTE; X-linked central congenital hypothyroidism w.. [+] CHTE; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement; central hypothyroidism and testicular enlargement; [-]	A syndrome characterized by hypothyroidism that is..[+] A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. [-]
IMAGe syndrome	intrauterine growth restriction, metaphyseal dyspl.. [+] intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities; [-]	A syndrome that is characterized by intrauterine g..[+] A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. [-]
ITM2B-related cerebral amyloid angiopathy 1	Cerebral Amyloid Angiopathy, British Type; Familia.. [+] Cerebral Amyloid Angiopathy, British Type; Familial British Dementia; FBD; Presenile Dementia with Spastic Ataxia; [-]	A cerebral amyloid angiopathy characterized by ons..[+] A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
ITM2B-related cerebral amyloid angiopathy 2	Cerebellar Ataxia, Cataract, Deafness, and Dementi.. [+] Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Familial Danish Dementia; FDD; Heredopathia Ophthalmootoencephalica; HOOE; [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
IVIC syndrome	Oculootoradial syndrome; radial ray defects, heari.. [+] Oculootoradial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; oculo-oto-radial syndrome; OORS; Instituto Venezolano de Investigaciones Cientificas syndrome; [-]	A syndrome characterized by radial ray defect of v..[+] A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. [-]
IgA glomerulonephritis	Berger's IgA or IgG nephropathy; Focal Glomerulone.. [+] Berger's IgA or IgG nephropathy; Focal Glomerulonephritis; IGA glomerulonephritis; IgA nephropathy; segmental glomerulonephritis; primary IgA nephropathy; [-]	A glomerulonephritis characterized by build up of ..[+] A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. [-]
IgA pemphigus		A pemphigus that is characterized by painful and p..[+] A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. [-]
IgG4-related disease		An autoimmune disease that is characterized by tum..[+] An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. [-]
Indian plum allergy	Ziziphus mauritiana fruit allergy;	A fruit allergy triggered by Ziziphus mauritiana p..[+] A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. [-]
Indian prawn allergy	Fenneropenaeus indicus allergy;	A crustacean allergy triggered by Fenneropenaeus i..[+] A crustacean allergy triggered by Fenneropenaeus indicus. [-]
Indian tick typhus		A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. [-]
Israeli tick typhus	Israeli spotted fever;	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. [-]
Jaccoud's syndrome	Jaccoud syndrome;	An autoimmune disease that is characterized by sev..[+] An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. [-]
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	chromosome 11q deletion syndrome; Jacobsen distal .. [+] chromosome 11q deletion syndrome; Jacobsen distal 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. [-]
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. [-]
Jansen's metaphyseal chondrodysplasia	Jansen Disease; Jansen Metaphyseal Dysostosis; Mur.. [+] Jansen Disease; Jansen Metaphyseal Dysostosis; Murk Jansen Type Metaphyseal Chondrodysplasia; Jansen metaphyseal chondrodysplasia; [-]	A metaphyseal dysplasia that has_material_basis_in..[+] A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. [-]
Japanese encephalitis	Japanese B encephalitis;	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. [-]
Japanese spotted fever	oriental spotted fever; Rickettsia japonica spotte.. [+] oriental spotted fever; Rickettsia japonica spotted fever; [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. [-]
Jervell-Lange Nielsen syndrome	Jervell and Lange-Nielson syndrome (disorder); Jer.. [+] Jervell and Lange-Nielson syndrome (disorder); Jervell and Lange-Nielson syndrome; [-]	n_a	3 articles
Jewett-Marshall bladder cancer	Jewett-Marshall stage D1 bladder cancer; stage IVB.. [+] Jewett-Marshall stage D1 bladder cancer; stage IVB urinary bladder carcinoma; Jewett-Marshall stage D2 bladder cancer; [-]	n_a
Johanson-Blizzard syndrome	Johanson-Blizzard syndrome (disorder); JBS;	A syndrome that involves abnormal development of t..[+] A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. [-]
Joubert syndrome	JBTS;	A ciliopathy that is characterized by congenital m..[+] A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. [-]	5 articles
Joubert syndrome 1	cerebellooculorenal syndrome 1; cerebelloparenchym.. [+] cerebellooculorenal syndrome 1; cerebelloparenchymal disorder IV; CORS1; CPD4; JBTS1; [-]	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. [-]
Joubert syndrome 10	JBTS10;	A Joubert syndrome that has_material_basis_in X-li..[+] A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. [-]
Joubert syndrome 13	JBTS13;	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. [-]
Joubert syndrome 14	JBTS14;	A Joubert syndrome characterized by severe mental ..[+] A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. [-]
Joubert syndrome 15	JBTS15;	A Joubert syndrome characterized by ataxia, hypoto..[+] A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. [-]
Joubert syndrome 16	JBTS16;	A Joubert syndrome characterized by molar tooth si..[+] A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. [-]
Joubert syndrome 17	JBTS17;	A Joubert syndrome characterized by episodic hyper..[+] A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. [-]	1 articles
Joubert syndrome 18	JBTS18;	A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. [-]
Joubert syndrome 2	cerebellooculorenal syndrome 2; CORS2; JBTS2;	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 30		A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. [-]
Joubert syndrome 31		A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. [-]
Joubert syndrome 33		A Joubert syndrome that has_material_basis_in homo..[+] A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. [-]

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