Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 ???pagination.result.next???

Disease	Synonyms	Description	Articles
injection anthrax	injectional anthrax; injectional anthrax syndrome; .. [+] injectional anthrax syndrome; injectional anthrax [-]	An anthrax disease that is characterized by infect..[+] An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. [-]
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies		An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. [-]
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	IDDBAS	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. [-]
infant-type hemispheric glioma		A malignant astrocytoma that is characterized by r..[+] A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. [-]
intellectual developmental disorder with ocular anomalies and distinctive facial features	IDDOF; MTSS2-related neurodevelopmental disorder	A syndromic intellectual disability that is charac..[+] A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. [-]
intravascular large B-cell lymphoma		A large B-cell lymphoma that is characterized by t..[+] A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. [-]
isolated mitochondrial myopathy	Autosomal dominant mitochondrial myopathy with exe.. [+] Autosomal dominant mitochondrial myopathy with exercise intolerance [-]	A mitochondrial myopathy that is characterized by ..[+] A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. [-]
intellectual developmental disorder with autistic features and language delay, with or without seizures	IDDALDS	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. [-]
immunodeficiency-centromeric instability-facial anomalies syndrome	ICF syndrome	A syndrome characterized by immunodeficiency, rear..[+] A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. [-]	1 articles
immunodeficiency-centromeric instability-facial anomalies syndrome 1	ICF syndrome 1	An immunodeficiency-centromeric instability-facial..[+] An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. [-]
immunodeficiency-centromeric instability-facial anomalies syndrome 2	ICF syndrome 2	An immunodeficiency-centromeric instability-facial..[+] An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. [-]
immunodeficiency-centromeric instability-facial anomalies syndrome 3	ICF syndrome 3	An immunodeficiency-centromeric instability-facial..[+] An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. [-]
immunodeficiency-centromeric instability-facial anomalies syndrome 4	ICF syndrome 4	An immunodeficiency-centromeric instability-facial..[+] An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. [-]
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	IPEX; immunodysregulation, polyendocrinopathy, and.. [+] IPEX; immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked; immunodeficiency, polyendocrinopathy, and enteropathy, X-linked; IDDM-secretory diarrhea syndrome; autoimmunity-immunodeficiency syndrome, X-linked; X-linked autoimmunity-allergic dysregulation syndrome; Autoimmune enteropathy type 1; diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; DMSD; XLAAD; XPID; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea [-]	A hypersensitivity reaction type II disease charac..[+] A hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in mutation in the FOXP3 gene on chromosome Xp11. [-]
isolated cleft palate		A cleft palate seen as an isolated malformation, d..[+] A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate. [-]
inflammatory bowel disease 7	IBD7	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. [-]
inflammatory bowel disease 17	IBD17	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. [-]
inflammatory bowel disease 23	IBD23	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. [-]
inflammatory bowel disease 10	IBD10; inflammatory bowel disease (Crohn disease) .. [+] IBD10; inflammatory bowel disease (Crohn disease) 10 [-]	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. [-]
inflammatory bowel disease 9	IBD9	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. [-]

???pagination.result.page??? ???pagination.result.prev??? 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 ???pagination.result.next???