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Disease	Synonyms	Description	Articles
inflammatory bowel disease 27	IBD27	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. [-]
inflammatory bowel disease 4	IBD4	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. [-]
inflammatory bowel disease 8	IBD8	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. [-]
inflammatory bowel disease 22	IBD22	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. [-]
inflammatory bowel disease 21	IBD21	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. [-]
inflammatory bowel disease 6	IBD6	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. [-]
inflammatory bowel disease 24	IBD24	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. [-]
inflammatory bowel disease 25	IBD25; early onset autosomal recessive inflammator.. [+] IBD25; early onset autosomal recessive inflammatory bowel disease 25 [-]	An inflammatory bowel disease characterized by aut..[+] An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. [-]
infantile hypophosphatasia	Hops; phosphoethanolaminuria	A hypophosphatasia that has_material_basis_in homo..[+] A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. [-]
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. [-]
isolated ectopia lentis	IEL; familial ectopia lentis	A lens disease characterized by abnormal stretchin..[+] A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. [-]
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	postnatal progressive microcephaly, seizures, and .. [+] postnatal progressive microcephaly, seizures, and brain atrophy [-]	A brain disease characterized by cerebral and cere..[+] A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. [-]
isolated sulfite oxidase deficiency	sulfocysteinuria	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. [-]
idiopathic generalized epilepsy 10	EIG10	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. [-]
idiopathic generalized epilepsy 11	EIG11	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. [-]
idiopathic generalized epilepsy 12	EIG12	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. [-]
idiopathic generalized epilepsy 13	EIG13	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. [-]
idiopathic generalized epilepsy 14	EIG14	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. [-]
idiopathic generalized epilepsy 15	EIG15	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. [-]
idiopathic generalized epilepsy 2	EIG2	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. [-]
idiopathic generalized epilepsy 3	EIG3	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. [-]
idiopathic generalized epilepsy 4	EIG4	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. [-]
idiopathic generalized epilepsy 5	EIG5	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. [-]
idiopathic generalized epilepsy 7	EIG7	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. [-]
idiopathic generalized epilepsy 8	EIG8	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. [-]
idiopathic generalized epilepsy 9	EIG9	An idiopathic generalized epilepsy that has_materi..[+] An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. [-]
intellectual disability-severe speech delay-mild dysmorphism syndrome	FOXP1 Haploinsufficiency; FOXP1 syndrome; Mental r.. [+] FOXP1 Haploinsufficiency; FOXP1 syndrome; Mental retardation with language impairment and with or without autistic features; FOXP1-Related Neurodevelopmental Disorder [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. [-]
isolated elevated serum creatine phosphokinase levels	idiopathic hyperCKemia; isolated hyperCKemia; elev.. [+] isolated hyperCKemia; idiopathic hyperCKemia; elevated serum CPK [-]	An inherited metabolic disorder characterized by e..[+] An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. [-]
isolated hyperchlorhidrosis	HYCHL; carbonic anhydrase XII deficiency	A skin disease characterized by excessive loss of ..[+] A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. [-]
IVIC syndrome	Instituto Venezolano de Investigaciones Cientifica.. [+] Instituto Venezolano de Investigaciones Cientificas syndrome; Oculootoradial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; oculo-oto-radial syndrome; OORS [-]	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. [-]
ischiocoxopodopatellar syndrome	ischiopatellar dysplasia; ischiocoxopodopatellar s.. [+] ischiopatellar dysplasia; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; congenital coxa vara, patella aplasia and tarsal synostosis; coxo-podo-patellar syndrome; coxopodipatellar syndrome; small patella syndrome; SPS; patella aplasia, coxa vara, and tarsal synostosis; Scott-Taor syndrome [-]	A dysostosis characterized by hypoplasia or aplasi..[+] A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. [-]	1 articles
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	IBMPFD2; MSP2; multisystem proteinopathy 2	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. [-]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	IBMPFD1; MSP1; multisystem proteinopathy 1	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. [-]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	IBMPFD3; MSP3; multisystem proteinopathy 3	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. [-]
intellectual developmental disorder with short stature and behavioral abnormalities	IDDSSBA	A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. [-]
isolated cryptophthalmia	CRYPTOP; unilateral or bilateral isolated cryptoph.. [+] CRYPTOP; unilateral or bilateral isolated cryptophthalmos [-]	A cryptophthalmia characterized by absence of the ..[+] A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. [-]
infantile hypertrophic cardiomyopathy		A hypertrophic cardiomyopathy characterized by iso..[+] A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. [-]
ichthyosis follicularis-alopecia-photophobia syndrome 1	IFAP syndrome 1 with or without BRESHECK syndrome; .. [+] IFAP syndrome 1 with or without BRESHECK syndrome; IFAP syndrome 1; ichthyosis follicularis-atrichia-photophobia syndrome 1; IFAP syndrome; IFAP syndrome with or without BRESHECK syndrome; ichthyosis follicularis-atrichia-photophobia syndrome [-]	A syndrome characterized by ichthyosis folliculari..[+] A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. [-]
immunodeficiency 38	immunodeficiency 38, mycobacteriosis, autosomal re.. [+] immunodeficiency 38, mycobacteriosis, autosomal recessive; immunodeficiency 38 with basal ganglia calcification; IMD38; autosomal recessive ISG15 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. [-]
immunodeficiency 16	IMD16; combined immunodeficiency due to OX40 defic.. [+] IMD16; combined immunodeficiency due to OX40 deficiency; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with impaired immunity to human herpes virus 8; OX40 deficiency [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. [-]
immunodeficiency 14	IMD14; activated PI3K-delta syndrome; APDS; PASLI .. [+] IMD14; activated PI3K-delta syndrome; APDS; PASLI disease; senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. [-]
immunodeficiency 22	IMD22; SCID due to lymphocyte-specific protein tyr.. [+] IMD22; SCID due to lymphocyte-specific protein tyrosine kinase deficiency; severe combined immunodeficiency due to LCK deficiency; severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency; SCID due to LCK deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. [-]
immunodeficiency 24	IMD24; SCID due to CTPS1 deficiency; severe combin.. [+] IMD24; SCID due to CTPS1 deficiency; severe combined immunodeficiency due to CTPS1 deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. [-]
immunodeficiency 37	IMD37	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. [-]
immunodeficiency 42	IMD42; autosomal recessive mendelian susceptibilit.. [+] IMD42; autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; autosomal recessive MSMD due to complete RORgamma receptor defiency; autosomal recessive primary immunodeficiency due to RORC mutation [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. [-]
immunodeficiency 20	IMD20; autosomal recessive primary immunodeficienc.. [+] IMD20; autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity; CD16 deficiency; autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. [-]
immunodeficiency 25	IMD25; immunodeficiency due to defect in CD3-zeta; .. [+] immunodeficiency due to defect in CD3-zeta; IMD25 [-]	A T cell deficiency characterized by decreased T c..[+] A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. [-]
immunodeficiency 48	IMD48; combined immunodeficiency due to ZAP70 defi.. [+] IMD48; combined immunodeficiency due to ZAP70 deficiency; zeta-associated-protein 70 deficiency [-]	A T cell deficiency characterized by a selective T..[+] A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. [-]
immunodeficiency 31B	IMD31B; autosomal recessive immunodeficiency 31B, .. [+] IMD31B; autosomal recessive immunodeficiency 31B, mycobacterial and viral infections; autosomal recessive STAT1 deficiency; predisposition to severe viral infection due to STAT1 deficiency; susceptibility to viral and mycobacterial infections due to STAT1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 31A	IMD31A; autosomal dominant immunodeficiency 31A, m.. [+] IMD31A; autosomal dominant immunodeficiency 31A, mycobacteriosis; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; MSMD due to partial STAT1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]

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