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Disease	Synonyms	Description	Articles
intracranial berry aneurysm 6		An intracranial berry aneurysm that is characteriz..[+] An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. [-]
intracranial berry aneurysm 7		An intracranial berry aneurysm that is characteriz..[+] An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. [-]
intracranial berry aneurysm 9		An intracranial berry aneurysm that is characteriz..[+] An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. [-]
intracranial berry aneurysm 10		An intracranial berry aneurysm that is characteriz..[+] An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. [-]
intracranial berry aneurysm 12		An intracranial berry aneurysm that is characteriz..[+] An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. [-]
intellectual developmental disorder with cardiac arrhythmia	GNB5-related intellectual disability-cardiac arrhy.. [+] GNB5-related intellectual disability-cardiac arrhythmia syndrome [-]	A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. [-]
inclusion body myopathy and brain white matter abnormalities	multisystem proteinopathy 6	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. [-]
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 B-cell lymphoma that is characterized by the pre..[+] A 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. [-]
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. [-]
inflammatory bowel disease 12	IBD12	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. [-]
inflammatory bowel disease 18	IBD18	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. [-]
inflammatory bowel disease 5	IBD5	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. [-]
inflammatory bowel disease 19	inflammatory bowel disease (Crohn disease) 19; IBD.. [+] inflammatory bowel disease (Crohn disease) 19; IBD19 [-]	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. [-]
inflammatory bowel disease 3	IBD3	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. [-]
inflammatory bowel disease 1	IBD1	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. [-]
inflammatory bowel disease 13	IBD13	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. [-]
inflammatory bowel disease 11	IBD11	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. [-]
inflammatory bowel disease 14	IBD14	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. [-]
inflammatory bowel disease 16	IBD16	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. [-]
inflammatory bowel disease 15	IBD15	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. [-]
inflammatory bowel disease 20	IBD20	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. [-]
inflammatory bowel disease 28	IBD28; early onset autosomal recessive inflammator.. [+] IBD28; early onset autosomal recessive inflammatory bowel disease 28 [-]	An inflammatory bowel disease characterized by aut..[+] An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. [-]
inflammatory bowel disease 2	IBD2	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. [-]
inflammatory bowel disease 26	IBD26	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. [-]
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. [-]

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