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Disease	Synonyms	Description
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. [-]

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