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Disease	Synonyms	Description
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; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; DMSD; XLAAD; XPID [-]	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	inflammatory bowel disease (Crohn disease) 10; IBD.. [+] inflammatory bowel disease (Crohn disease) 10; IBD10 [-]	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 an a..[+] A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12. [-]
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. [-]
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. [-]
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 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 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 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. [-]
isolated hyperchlorhidrosis	carbonic anhydrase XII deficiency; HYCHL	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. [-]
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. [-]
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. [-]
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. [-]
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 22	IMD22; SCID due to LCK deficiency; SCID due to lym.. [+] IMD22; SCID due to LCK deficiency; 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 [-]	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 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. [-]
immunodeficiency 21	IMD21; combined immunodeficiency with susceptibili.. [+] IMD21; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; monocyte-B-natural killer-dendritic cell deficiency syndrome; monocytopenia and mycobacterial infection syndrome; monocytopenia with susceptibility to infections; MonoMAC [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. [-]
immunodeficiency 57	immunodeficiency 57 with autoinflammation; immune .. [+] immunodeficiency 57 with autoinflammation; immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome; IMD57 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. [-]
immunodeficiency 27B	IMD27B; autosomal dominant IFNGR1 deficiency; auto.. [+] IMD27B; autosomal dominant IFNGR1 deficiency; autosomal dominant immunodeficiency 27B, mycobacteriosis; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency; autosomal dominant MSMD due to partial IFNgammaR1 deficiency; autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. [-]
immunodeficiency 15B	IMD15B	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. [-]
immunodeficiency 15A	IMD15A	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. [-]

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