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Disease	Synonyms	Description
IGSF1 deficiency syndrome	central hypothyroidism and testicular enlargement;.. [+] central hypothyroidism and testicular enlargement; CHTE; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement; [-]	An X-linked disease characterized by hypothyroidis..[+] An X-linked disease 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 ITM2B on chromosome 13q14.2. [-]
IgA glomerulonephritis	Berger's IgA or IgG nephropathy; Focal Glomerulone.. [+] Berger's IgA or IgG nephropathy; Focal Glomerulonephritis; IGA glomerulonephritis; IgA nephropathy; primary IgA nephropathy; segmental glomerulonephritis; [-]	A glomerulonephritis characterized by build up of ..[+] A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. [-]
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. [-]
JMP syndrome	JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC A.. [+] JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; [-]	A syndrome that is characterized by childhood onse..[+] A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21.32. [-]
Jaccoud's syndrome	Jaccoud syndrome;	n_a
Jackson-Weiss syndrome	craniosynostosis-midfacial hypoplasia-foot abnorma.. [+] craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; JWS; [-]	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. [-]
Jansen's metaphyseal chondrodysplasia	Jansen Disease; Jansen metaphyseal chondrodysplasi.. [+] Jansen Disease; Jansen metaphyseal chondrodysplasia; Jansen Metaphyseal Dysostosis; Murk Jansen Type 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. [-]
Jensen syndrome	opticoacoustic nerve atrophy with dementia;	A syndrome that is characterized by sensorineural ..[+] A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. [-]
Jervell-Lange Nielsen syndrome	Jervell and Lange-Nielson syndrome (disorder);	n_a
Jewett-Marshall bladder cancer	Jewett-Marshall stage D1 bladder cancer; Jewett-Ma.. [+] Jewett-Marshall stage D1 bladder cancer; Jewett-Marshall stage D2 bladder cancer; stage IVB urinary bladder carcinoma; [-]	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..[+] An autosomal recessive disease 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. [-]
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. [-]
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 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. [-]
Joubert syndrome with orofaciodigital defect	OFD6; orofaciodigital syndrome VI; Varadi syndrome.. [+] OFD6; orofaciodigital syndrome VI; Varadi syndrome; Varadi-Papp syndrome; [-]	A Joubert syndrome that is characterized by orofac..[+] A Joubert syndrome that is characterized by orofaciodigital defect. [-]
KBG syndrome		A syndrome that is characterized by short stature,..[+] A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. [-]
Kabuki syndrome	Kabuki make up syndrome; KMS; Niikawa-Kuroki syndr.. [+] Kabuki make up syndrome; KMS; Niikawa-Kuroki syndrome; [-]	A syndrome characterized by multiple congenital a..[+] A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. [-]

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