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ICHAD SyndromeAn immune system disease characterized by onset of immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay soon after birth or in early infancy that is caused by heterozygous gai IchthyosisA group of skin disorders causing dry, scaly skin.Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that is caused by hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12.Ichthyosis VulgarisAn ichthyosis that is caused by heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.IDH-Mutant Anaplastic AstrocytomaAn anaplastic astrocytoma carrying IDH mutations.IDH-Mutant and 1p/19q-Codeleted OligodendrogliomaAn anaplastic oligodendroglioma that is caused by IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).IDH-Wildtype Anaplastic AstrocytomaAn anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.IDH-Wildtype GlioblastomaA glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.Idiopathic CD4-Positive T-LymphocytopeniaA lymphopenia that is caused by a reduction of CD4+ T lymphocytes.Idiopathic Generalized Epilepsy 20A generalized epilepsy characterized by partial epilepsy, with onset usually early in the first decade of life, that evolves to include complex partial seizures and secondary generalized tonic-clonic seizures associated Idiopathic Interstitial PneumoniaA pneumonia in the lung parenchyma of unknown cause.Idiopathic Juvenile OsteoporosisAn osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.Idiopathic Pulmonary FibrosisScarring of the lungs that worsens over time.Idiopathic ScoliosisA scoliosis with no known cause.IGA GlomerulonephritisA glomerulonephritis characterized by build up of IgA antibody in the glomerulus.IgA NephropathyA kidney disease from antibody deposits.IGA PemphigusA pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to ce IGA VasculitisA hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.IgG4-Related DiseaseAn autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and someti IGSF1 Deficiency SyndromeA syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that is caused by mutation of the IGSF1 gene on chromosome Xq26.IleitisAn inflammatory bowel disease characterized by inflammation in ileum, causes diarrhea, causes abdominal pain, often in the right lower quadrant, causes weight loss.IleocolitisAn inflammatory bowel disease characterized by inflammation in colon and in ileum, causes diarrhea, causes weight loss, causes abdominal pain in middle or lower right part. The most common type of Crohn's disease.Ileum CancerA small intestine cancer that is in the ileum.Illness Anxiety DisorderPersistent fear of having a serious illness.IMAGe SyndromeA syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and is caused by heterozygous mutation in the CDKN1C gene.IminoglycinuriaA renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that is caused by homozygous mutation in Immature CataractA senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining.Immature Teratoma of OvaryA malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies.Immune Dysregulation, Neurodevelopmental Defects, and ColitisA physical disorder characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues that is caused by homozygous or compound heterozygous mutation in the ITG Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked SyndromeAn autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that is caused by X-linked recessive mutation in the forkhead box P3 (FOX Immune System CancerAn organ system cancer in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.Immune System Organ Benign NeoplasmAn organ system benign neoplasm in the immune system organs.Immune ThrombocytopeniaThe immune system destroys platelets.Immunodeficiency 10A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that is caused by homozygous mutation in the STIM1 gene on chromosome 11p15.4.Immunodeficiency 100A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that is caused by heterozygous mutation in the OAS1 gen Immunodeficiency 101A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that is caused by heterozygous mutation in th Immunodeficiency 102A T cell and NK cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias and that is c Immunodeficiency 106A primary immunodeficiency disease that is characterized by increased susceptibility to viral infections beginning in infancy or early childhood and that is caused by homozygous or compound heterozygous mutation in the I Immunodeficiency 107A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that is caused by heterozygous mutation in Immunodeficiency 108A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolesce Immunodeficiency 109A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that is caused by homozygous mutation in the TNFRSF9 gene on chromosome 1p36.Immunodeficiency 112A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that is caused by homozygous mutation in the MAP3K14 gene on chromosome 17q21.Immunodeficiency 113A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosi Immunodeficiency 114A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that is caused by homozygous mutation in the SLC19A1 gene on chromos Immunodeficiency 115A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that is caused by homozygous or compound heterozygous mutation in the RNF31 gene on chromosom Immunodeficiency 116A T cell deficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in infancy or early childhood and that is caused by homozygous mutation in the CD8-alpha gene on chromosome Immunodeficiency 117A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that is caused by homozygous mutation in the IRF1 gene on ch Immunodeficiency 118A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that is caused by hemizygous Immunodeficiency 119A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that is caused by homozygous mutation in the ICOSLG gene on chrom Immunodeficiency 11AA severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defect Immunodeficiency 11BA T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that is caused by heterozygous mutation in the CARD11 gene Immunodeficiency 12A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that is caused by homozygous or compound heterozygous mutation in the MALT1 ge Immunodeficiency 120A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that is caused by homozygous or compound heterozygous muta Immunodeficiency 121A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that is caused by heterozygous mutat Immunodeficiency 122A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that is caused by homozygous mutation in the POLD3 Immunodeficiency 123A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that is caused by homozygous mutation in the CD28 gene on chromosome 2q33.Immunodeficiency 125A B cell deficiency that is characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections and that is caused by homozygous mutation in the FL Immunodeficiency 127A primary immunodeficiency disease that is characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis and that is caused by homozygous mutation in the TNF gene on chromosom Immunodeficiency 128A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that is caused by homozygous mutation in the COPG1 gene on chromosome Immunodeficiency 129A T cell deficiency that is characterized by recurrent bacterial, viral, and fungal infections beginning in the first or second decades of life and that is caused by homozygous mutation in the RHOH gene on chromosome 4p1 Immunodeficiency 13A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that is caused by heterozygous mutation in the UNC119 gene on chromosome 17q11.2.Immunodeficiency 130 with HPV-Related VerrucosisA primary immunodeficiency disease that is characterized mainly by the onset of warts and verrucous or plaque-like skin lesions associated with HPV infection, usually in the first 3 decades of life and that is caused by Immunodeficiency 131A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that is caused by heterozygous or homozygous muta Immunodeficiency 132AA primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that is caused by heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32 Immunodeficiency 132BA primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell su Immunodeficiency 133A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic co Immunodeficiency 14A 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 is caused by heterozygous activating mutation i Immunodeficiency 15AA combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that is caused by heterozygous missense mutation in the IKBKB ge Immunodeficiency 15BA 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 a Immunodeficiency 16A 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 is caused by homo Immunodeficiency 17A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that is caused by homozygous or compound heterozygous mutation in the CD3G gene Immunodeficiency 18A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that is caused by homozygous or compound heterozygous mutation in the CD3E gene on ch Immunodeficiency 19A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype Immunodeficiency 20A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that is caused by homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3.Immunodeficiency 21A 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 Immunodeficiency 22A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that is caused by homozygous or compound heterozygous mutation Immunodeficiency 23A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers,Immunodeficiency 24A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that is caused by homozygous or compound heterozygous mutation in Immunodeficiency 25A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that is caused by homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2.Immunodeficiency 26A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand bre Immunodeficiency 27AA primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that is caused by homozygous or compound hete Immunodeficiency 27BA 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 is caused by h Immunodeficiency 28A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that is caused by homozygous or compound Immunodeficiency 29A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that is caused by homozygous or compound heterozygous muta Immunodeficiency 30A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that is caused by homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.Immunodeficiency 31AA primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that is caused by heterozygous mutation in the STAT1 Immunodeficiency 31BA primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that is caused by homozygous or compo Immunodeficiency 31CA primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that is caused by heterozygous gain of function mutation in the STAT1 g Immunodeficiency 32AA dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that is caused by heterozygous mutation in the IRF8 gene on chromos Immunodeficiency 32BA monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections th Immunodeficiency 33A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that is caused by hemizygous mutation in the IKBKG gene on chromosome Xq28.Immunodeficiency 34A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that is caused by hemizygous mutation Immunodeficiency 35A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that is caused by h Immunodeficiency 36A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM Immunodeficiency 37A 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 is caused by homo Immunodeficiency 38A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that is caused by homozygous or compound heterozy Immunodeficiency 39A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that is caused by homozygous or compond heterozygous mutation in the IRF7 gene on chro Immunodeficiency 40A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and vira Immunodeficiency 41A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacter Immunodeficiency 42A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that is caused by homozygous or compound heterozygous mutation in the RORC gene on Immunodeficiency 43A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and exc Immunodeficiency 44A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that is caused Immunodeficiency 45A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that is caused by homoz Immunodeficiency 46A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired Immunodeficiency 47A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that is caused by hemizygous mutation in the ATP Immunodeficiency 48A 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 is caused by homozygous or compound Immunodeficiency 49A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that is Immunodeficiency 50A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella Immunodeficiency 51A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that is caused by homozyg Immunodeficiency 52A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that is caused by homozygous or compound hetero Immunodeficiency 53A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antig Immunodeficiency 54A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that is ca Immunodeficiency 55A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and Immunodeficiency 56A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, a Immunodeficiency 57A 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 inflammati Immunodeficiency 58A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-ce Immunodeficiency 59A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypogly Immunodeficiency 60A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent Immunodeficiency 61A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that is caused by hemizygous mutation in the SH3KBP1 gene o Immunodeficiency 62A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and al Immunodeficiency 63A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid Immunodeficiency 64A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in Immunodeficiency 65A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated Immunodeficiency 66A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be aff Immunodeficiency 69A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that is caused by Immunodeficiency 7A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that is caused by homozygous or compound heterozygou Immunodeficiency 70A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that is caused by he Immunodeficiency 71A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory featu Immunodeficiency 72A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies Immunodeficiency 73a with Defective Neutrophil Chemotaxis and LeukocytosisA combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that is c Immunodeficiency 73b with Defective Neutrophil Chemotaxis and LymphopeniaA combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, dec Immunodeficiency 73c with Defective Neutrophil Chemotaxis and HypogammaglobulinemiaA combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that is caused by homozy Immunodeficiency 79A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendri Immunodeficiency 80A primary immunodeficiency disease that is characterized by variable manifestations and that is caused by compound heterozygous mutation in the MCM10 gene on chromosome 10p13.Immunodeficiency 81A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune fea Immunodeficiency 82A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung,Immunodeficiency 84A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that is caused by heterozygous Immunodeficiency 85A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that is caused by heterozygous mutation in the TOM1 gene on chromosome 22q12.Immunodeficiency 86A T cell deficiency that is characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine and that is caused by homozygous mutation in the SPPL2A gene on chromosome 15q21.Immunodeficiency 87A primary immunodeficiency disease that is characterized by a wide phenotypic variation and severity and that is caused by homozygous mutation in the DEF6 gene on chromosome 6p21. Affected individuals usually present in Immunodeficiency 88A primary immunodeficiency disease that is characterized by the development of disseminated mycobacterial disease following vaccination with BCG and that is caused by homozygous mutation in the TBX21 gene on chromosome 1 Immunodeficiency 89A primary immunodeficiency disease that is characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease and that is caused by homozygous mutation in the CARD10 gene on chromosome Immunodeficiency 9A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that is caused by homozygous or compound heterozygous mutation in Immunodeficiency 90A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drow Immunodeficiency 91A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that is caused b Immunodeficiency 92A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that is caused by homozygous mutation in the REL gene on chromosome 2p16.Immunodeficiency 93A primary immunodeficiency disease that is characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life Immunodeficiency 94A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that is caused by heterozygous gain-of-functi Immunodeficiency 95A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that is caused by homozygous loss-of-function mutation in the I Immunodeficiency 96A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that is caused by homozygous or compound heterozygous mutation in th Immunodeficiency 97A T cell and NK cell immunodeficiency that is characterized by variable features and and that is caused by compound heterozygous mutation in the PIK3CG gene on chromosome 7q22.Immunodeficiency 98A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that is caused by hemizygous mutation i Immunodeficiency 99A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that is caused by homozygous mutation in the CTNNBL1 gene on chromosome 20q11.Immunodeficiency-Centromeric Instability-Facial Anomalies SyndromeA syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.Immunodeficiency, Developmental Delay, and HypohomocysteinemiaAn autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that is caused by heterozygou Immunodeficiency with Hyper-IGM Type 2A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that is caused by homozygous or compound Immunodeficiency with Hyper IGM Type 3A hyper IgM syndrome that is caused by mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an Immunodeficiency with Hyper-IGM Type 4A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR)Immunodeficiency with Hyper IGM Type 5A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR)Immunodysregulation with Variable Immunodeficiency and AutoimmunityAn immune system disease characterized by variable manifestations ranging from immunodeficiency, including recurrent respiratory infections and chronic fungal or viral infections often associated with lymphopenia and hyp Immunoglobulin Alpha DeficiencyA B cell deficiency that is an autosomal recessive disorder that is caused by mutation in the IgA (CD79 alpha) antigen receptor.Immunoglobulin Beta DeficiencyA B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and is caused by autosomal recessive inheritance.Immunoglobulin Heavy-and-Light ChainAn amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.Immunoglobulin Heavy Chain AmyloidosisAn amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm.Immunoglobulin Light Chain AmyloidosisAn amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells.Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac DefectsA syndromic intellectual disability characterized by mild-to-profound developmental delay, intellectual disability, speech delay, hypotonia, variable congenital heart defects, and distinctive dysmorphic facial features i ImpetigoA contagious bacterial skin infection, common in children.Impetigo HerpetiformisAn impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.ImpotenceA sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.Impulse Control DisorderA disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others.Inappropriate ADH SyndromeA pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH).Inclusion Body Myopathy and Brain White Matter AbnormalitiesAn 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 s Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal DementAn inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is caused by heterozygous mutation in VCP on chromosome 9p13.3.Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal DementiaA syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and is caused by mutation in the valosin containing protein.Inclusion Body MyositisA progressive inflammatory muscle disease.Inclusion ConjunctivitisA commensal bacterial infectious disease that causes inflammation, in conjunctiva of the eye, is caused by Chlamydia trachomatis, which is transmitted by sexual contact. The infection causes swollen conjunctiva and eyeli Indeterminate LeprosyA leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.Indian Plum AllergyA fruit allergy triggered by Ziziphus mauritiana plant fruit food product.Indian Prawn AllergyA crustacean allergy triggered by Fenneropenaeus indicus.Indian Tick TyphusA spotted fever that is caused by Rickettsia conorii subsp indica, which is transmitted by ticks (Rhipicephalus sanguineus). The infection causes fever, causes eschar, causes regional adenopathy, and causes maculopapular Indolent Plasma Cell MyelomaA multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm.Infancy Electroclinical SyndromeAn electroclinical syndrome with onset in infancy occurring between birth and one year of age.Infant BotulismA botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, is caused by Clostridium botulinum A or is caused by Clostridium botulinum B, which are transmitted by ingestion of bacterial Infant GynecomastiaA breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age.Infantile Cerebellar-Retinal DegenerationA neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.Infantile Cerebral and Cerebellar Atrophy with Postnatal Progressive MicrocephalyA brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that is caused by homozygous or compound heterozygous mutation in MED17 on 11q21.Infantile Histiocytoid CardiomyopathyAn intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and is caused by a mutation in the gene encoding mitochondrial cytochrome b.Infantile Hypercalcemia 1A hypercalcemia that is caused by homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.Infantile Hypercalcemia 2A hypercalcemia that is caused by homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35.Infantile Hypertrophic CardiomyopathyA hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that is caused by mutation in the overlapping mitochondrial genes MTATP6 and MTATP8.Infantile HypophosphatasiaA hypophosphatasia that is caused by homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that is caused b Infantile Liver Failure SyndromeA syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function te Infantile Liver Failure Syndrome 1An infantile liver failure syndrome that is caused by homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.Infantile MyofibromatosisA connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.Infantile Myofibromatosis 1An infantile myofibromatosis that is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32.Infantile Myofibromatosis 2An infantile myofibromatosis that is caused by heterozygous mutation in the NOTCH3 gene on chromosome 19p13.Infantile-Onset Distal MyopathyA distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development.Infantile Onset Multisystem Autoimmune DiseaseAn autoimmune disease characterized by systemic autoimmune manifestations with infantile onset.Infantile Onset Multisystem Autoimmune Disease 1An infantile onset multisystem autoimmune disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs that is caused by heterozygous gain of function mutation in the STA Infantile Onset Multisystem Autoimmune Disease 2An infantile onset multisystem autoimmune disease that is caused by compound heterozygous mutation in the ZAP70 gene on chromosome 2q12.Infantile Onset Multisystem Autoimmune Disease 3An infantile onset multisystem autoimmune disease characterized by the onset of various systemic autoimmune manifestations in the first months or years of life that is caused by homozygous mutation in the CBLB gene on ch Infantile Onset Multisystem Autoimmune Disease 4An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that is caused by homozygous mutation in the PDCD1 gene on chromosome 2q37.Infantile Onset Multisystem Autoimmune Disease 5An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that is caused by homozygous mutation in the PDL1 gene on chromo Infantile-Onset Myofibrillar Myopathy 12 with CardiomyopathyA myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that is caused by homozy Infantile-Onset Myofibrillar Myopathy-2BA myofibrillar myopathy that is caused by homozygous mutation in the CRYAB gene on chromosome 11q23.Infantile Parkinsonism-Dystonia 2A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that is caused by homozygous mutation in the SLC Infantile Refsum DiseaseA peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secon Infant-Type Hemispheric GliomaA 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.Infectious MononucleosisA viral infectious disease that results in inflammation, located in pharynx, is caused by Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and h Infective EndocarditisAn endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.InfertilityDifficulty conceiving after a year of trying. Tracking your symptoms and connecting with others who understand can help you manage day to day.Infiltrating AngiolipomaAn angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue.Infiltrating Nipple Syringomatous AdenomaA nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple.Infiltrating Renal Pelvis Transitional Cell CarcinomaA renal pelvis transitional cell carcinoma in the transitional epithelium of the renal pelvis.Infiltrative Basal Cell CarcinomaA basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern.Inflammatory and Toxic NeuropathyA neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment.Inflammatory Bowel DiseaseAn intestinal disease characterized by inflammation located in all parts of digestive tract.Inflammatory Bowel Disease 1An inflammatory bowel disease that is caused by mutations in the NOD2 gene on chromosome 16q12.1.Inflammatory Bowel Disease 10An inflammatory bowel disease that is caused by variation in the ATG16L1 gene on chromosome 2q37.Inflammatory Bowel Disease 11An inflammatory bowel disease that is caused by variation in the chromosome region 7q22.Inflammatory Bowel Disease 12An inflammatory bowel disease that is caused by variation in the chromosome region 3p21.3.Inflammatory Bowel Disease 13An inflammatory bowel disease that is caused by variation in the ABCB1 gene on chromosome 7q21.1.Inflammatory Bowel Disease 14An inflammatory bowel disease that is caused by variation in the IRF5 gene on chromosome 7q32.Inflammatory Bowel Disease 15An inflammatory bowel disease that is caused by variation in the chromosome region 10q21.Inflammatory Bowel Disease 16An inflammatory bowel disease that is caused by variation in the chromosome region 9q32.Inflammatory Bowel Disease 17An inflammatory bowel disease that is caused by variation in the IL23R gene on chromosome 1p31.3.Inflammatory Bowel Disease 18An inflammatory bowel disease that is caused by variation in the chromosome region 5p13.1.Inflammatory Bowel Disease 19An inflammatory bowel disease that is caused by variation in the chromosome region 5q33.1.Inflammatory Bowel Disease 2An inflammatory bowel disease that is caused by variation in the chromosome region 12p13.2-q24.1.Inflammatory Bowel Disease 20An inflammatory bowel disease that is caused by variation in the chromosome region 10q23-q24.Inflammatory Bowel Disease 21An inflammatory bowel disease that is caused by variation in the chromosome region 18p11.Inflammatory Bowel Disease 22An inflammatory bowel disease that is caused by variation in the chromosome region 17q21.2.Inflammatory Bowel Disease 23An inflammatory bowel disease that is caused by variation in the chromosome region 1q32.1.Inflammatory Bowel Disease 24An inflammatory bowel disease that is caused by variation in the chromosome 20q13.Inflammatory Bowel Disease 25An inflammatory bowel disease characterized by autosomal recessive inheritance that is caused by homozygous mutation in the IL10RB gene on chromosome 21q22.Inflammatory Bowel Disease 26An inflammatory bowel disease that is caused by variation in the chromosome region 12q15.Inflammatory Bowel Disease 27An inflammatory bowel disease that is caused by variation in the chromosome region 13q13.3.Inflammatory Bowel Disease 28An inflammatory bowel disease characterized by autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23.Inflammatory Bowel Disease 29An inflammatory bowel disease that is caused by heterozygous mutation in the INAVA gene on chromosome 1q32.1.Inflammatory Bowel Disease 3An inflammatory bowel disease that is caused by variation in the chromosome region 6p21.3.Inflammatory Bowel Disease 30An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that is caused by heterozygous mutation in the CARD8 gene on Inflammatory Bowel Disease 4An inflammatory bowel disease that is caused by variation in the chromosome region 14q11-q12.Inflammatory Bowel Disease 5An inflammatory bowel disease that is caused by variation in the chromosome region 5q31.Inflammatory Bowel Disease 6An inflammatory bowel disease that is caused by variation in the chromosome region 19p13.Inflammatory Bowel Disease 7An inflammatory bowel disease that is caused by variation in the chromosome region 1p36.Inflammatory Bowel Disease 8An inflammatory bowel disease that is caused by variation in the chromosome region 16p.Inflammatory Bowel Disease 9An inflammatory bowel disease that is caused by variation in the chromosome region 3p26.Inflammatory Breast CarcinomaA breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli.Inflammatory DiarrheaA gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to abs Inflammatory LeiomyosarcomaA leiomyosarcoma that is characterized by a prominent intristic inflammatory component.Inflammatory Myofibroblastic TumorA mesenchymal cell neoplasm that is caused by myofibroblastic cells admixed with inflammatory cells.Inflammatory Poikiloderma with Hair Abnormalities and Acral KeratosesA skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that is caused by homozygous mutation in the LTV1 ge InfluenzaA contagious respiratory illness caused by flu viruses.Infratentorial CancerA brain cancer that is in the infratentorial region.Infundibulocystic Basal Cell CarcinomaA variant of basal cell carcinoma characterized by follicular differentiation.Inguinal HerniaAn intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.Inhalation AnthraxAn anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms an Inherited Metabolic DisorderA disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.Injection AnthraxAn 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.Inner Ear CancerAn ear cancer in the inner ear.Inner Ear DiseaseAn auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium.in Situ CarcinomaA carcinoma that is an early development defined by the absence of invasion of surrounding tissues.InsomniaTrouble falling or staying asleep. Tracking your symptoms and connecting with others who understand can help you manage day to day.InsulinomaA pancreatic cystadenoma that is characterized by the overproduction of insulin.Integrative AgnosiaAn agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.Integumentary System Benign NeoplasmAn organ system benign neoplasm in the integumentary system organs.Integumentary System CancerAn organ system cancer that is in the skin, hair and nails.Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short StatureAn autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that is caused by homozygous mutation in the PUS7 gene on chromosome 7q22.Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without SeizuAn autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral AbnormalitiesAn autosomal dominant intellectual developmental disorder that is caused by heterozygous mutation in FBXO11 gene on chromosome 2p16.Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic FaciesAn 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 Intellectual Developmental Disorder with Ocular Anomalies and Distinctive Facial FeaturesA syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and charac Intellectual Developmental Disorder with Seizures and Dysmorphic FaciesAn autosomal dominant intellectual developmental disorder characterized by mildly impaired intellectual development, learning difficulties, and early-onset seizures that are well controlled by medication that is caused b Intellectual Developmental Disorder with Short Stature and Behavioral AbnormalitiesA syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that is caused by homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.Intellectual DisabilityA specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.Intellectual Disability and Myopathy SyndromeA syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that involves in homozygous or compoun Intellectual Disability-Severe Speech Delay-Mild Dysmorphism SyndromeA 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 sp Interdigitating Dendritic Cell SarcomaA histiocytic and dendritic cell cancer that effect dendritic cells.Interleukin-1 Receptor Antagonist DeficiencyAn autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that is caused by homozygous mutation in the IL1RN gene on chromosome 2q14.Intermediate Malignant TeratomaA malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.Intermediate Spinal Muscular AtrophyA childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and is Intermittent AsthmaA chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per w Intermittent Explosive DisorderSudden episodes of impulsive aggression.Internal Auditory Canal LipomaAn auditory system benign neoplasm that arises from adipose tissue and is in the internal auditory canal.Internal HemorrhoidA hemorrhoid that is in the rectum.Interstitial CystitisChronic bladder pain and pressure. Tracking your symptoms and connecting with others who understand can help you manage day to day.Interstitial KeratitisA connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation in the corneal stroma, causes visual acuity loss, causes pain, and causes lacrimation.Interstitial Lung DiseaseA lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often causes shortness of breath, dyspnea, and/or cough.Interstitial Lung Disease 1An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that is caused by heterozygous mutation in the SFTPA1 gene on chromosome 10q22.Interstitial Lung Disease 2An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that is caused by heterozygous mutation in the SFTPA2 gene on chromosome 10q22.Interval Angle-Closure GlaucomaA primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elev Intestinal Benign NeoplasmA gastrointestinal system benign neoplasm that is in the intestine.Intestinal BotulismA botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, is caused by Clostridium botulinum A, is caused by Clostridium botulinum B, is caused by Clostridium botulinum E and is Intestinal CancerA gastrointestinal system cancer that is in the intestine.Intestinal DiseaseA gastrointestinal system disease that is in the intestine.Intestinal Hypomagnesemia 1A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that is caused by homozygous or compound heterozygous mutations in Intestinal Infectious DiseaseAn intestinal disease that involves intestinal infection that is caused by viruses, bacteria, fungi and parasites.Intestinal Pseudo-ObstructionA colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.Intestinal SchistosomiasisA schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepa Intestinal TuberculosisA gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae in intestine. The infection causes abdominal pain, causes gastrointestinal bleeding, causes nausea and cause Intestinal Variant Cervical Mucinous AdenocarcinomaA cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation.Intestinal VolvulusAn intestinal obstruction characterized by abnormal rotation of the intestines.Intestine Carcinoma in SituAn in situ carcinoma that is in the intestine.Intracerebral HemorrhageBleeding within the brain tissue.Intracranial AbscessA central nervous system disease that is in the skull and is characterized by a collection of pus (infected material) inside the skull.Intracranial Berry AneurysmAn intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.Intracranial Berry Aneurysm 1An 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 l Intracranial Berry Aneurysm 10An 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 l Intracranial Berry Aneurysm 11An 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 l Intracranial Berry Aneurysm 12An 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 l Intracranial Berry Aneurysm 2An 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 l Intracranial Berry Aneurysm 3An 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 l Intracranial Berry Aneurysm 4An 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 l Intracranial Berry Aneurysm 5An 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 l Intracranial Berry Aneurysm 6An 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 l Intracranial Berry Aneurysm 7An 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 l Intracranial Berry Aneurysm 8An 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 l Intracranial Berry Aneurysm 9An 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 l Intracranial HypertensionA brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, causes headache, causes vomiting, causes altered mental status, causes papilledema.Intracranial HypotensionA brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavi Intracranial MeningiomaA meningioma that arises within the cranial cavity.Intraductal Breast Benign NeoplasmA breast benign neoplasm that is in the breast ducts.Intraductal Breast MyoepitheliosisA breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts.Intraductal Papillary Breast NeoplasmAn intraductal breast benign neoplasm that is characterized by fingerlike growth projections.Intrahepatic Bile Duct AdenomaA bile duct adenoma in an intrahepatic bile duct.Intrahepatic Bile Duct CystadenomaA bile duct cystadenoma in an intrahepatic bile duct.Intrahepatic Biliary PapillomatosisA biliary papillomatosis in an intrahepatic bile duct.Intrahepatic CholangiocarcinomaA cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.Intrahepatic CholestasisA cholestasis characterized by impairment of the bile flow caused by obstruction in liver.Intrahepatic Cholestasis of PregnancyAn intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 Intrahepatic Cholestasis of Pregnancy 1An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that is caused by mutation in the ATP8B1 gene on chromosome 18q21.Intrahepatic Cholestasis of Pregnancy 3An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that is caused by mutation in the ABCB4 gene on chromosome 7q21.Intraocular RetinoblastomaA retinoblastoma that is in the eye and has not spread to other parts of the body.Intraorbital MeningiomaA meningioma by site and orbital neoplasm that is in the area around the eye sockets of the skull and causes pressure in the eyes, giving a bulging appearance.Intrathyroid Thymic CarcinomaA thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation.Intratubular Embryonal CarcinomaAn embryonal testis carcinoma that is located within a tubule.Intravascular Large B-Cell LymphomaA large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries.Intravenous LeiomyomatosisA leiomyomatosis that is located within the blood vessels.Intrinsic AsthmaA chronic asthma that is triggered by factors not attributable to allergies.Intrinsic CardiomyopathyA cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.Invasive AspergillosisAn aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue Invasive Ductal CarcinomaA breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.Invasive Lobular CarcinomaA breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.Iris Spindle Cell MelanomaA malignant melanoma of iris and spindle cell intraocular melanoma that is in the iris.Iron Deficiency AnemiaAnemia from too little iron.Irritable Bowel SyndromeRecurring abdominal pain with changes in bowel habits. Tracking your symptoms and connecting with others who understand can help you manage day to day.Irritant DermatitisA contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often causes eryth Isaacs SyndromeA rare condition causing continuous muscle twitching.IschemiaA vascular disease that is characterized by a restriction in blood supply to tissues.Ischemic Bone DiseaseA bone disease that causes an interruption of blood supply in bone.Ischemic ColitisA colitis caused by inadequate blood supply to the colon.Ischemic StrokeA stroke that is characterized by a blood clot in a blood vessel blocking blood flow to the brain.Ischiocoxopodopatellar SyndromeA dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that is caused by heterozygous mutation in the TBX4 gene on chromosome 17q23.2.Islet Cell TumorA pancreatic cancer that is in the pancreatic islet cells.Isocyanates Allergic AsthmaAn allergic asthma that triggered by isocyanates.Isolated Anhidrosis with Normal Sweat GlandsAn anhidrosis that is caused by homozygous mutation in the ITPR2 gene on chromosome 12p11.Isolated Cleft PalateA cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate.Isolated CryptophthalmiaA cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye.Isolated Ectopia LentisA 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.Isolated Elevated Serum Creatine Phosphokinase LevelsAn inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that is caused by in some cases in heterozygous mutation in the CAV3 gene on chro Isolated Glycolic AciduriaA carbohydrate metabolic disorder that is characterized by markedly elevated urinary and plasma glycolate without further metabolic disease consequences and that is caused by homozygous mutation in the HAO1 gene on chrom Isolated Growth Hormone DeficiencyA hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.Isolated Growth Hormone Deficiency Type IAAn isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplem Isolated Growth Hormone Deficiency Type IBAn isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance Isolated Growth Hormone Deficiency Type IIAn isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that is c Isolated Growth Hormone Deficiency Type IIIAn isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that is caused by mutation in the BTK gene on chromoso Isolated HyperchlorhidrosisA 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 is caused by homozygous or compound heterozygous mutation in the CA12 gen Isolated MicrophthalmiaA microphthalmia that occurs by itself.Isolated Microphthalmia 1An isolated microphthalmia that is caused by variation in the chromosomal region 14q32.Isolated Microphthalmia 2An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that is caused by homozygous mutation in the CHX1 Isolated Microphthalmia 4An isolated microphthalmia that is caused by mutation in the GDF6 gene on chromosome 8q22.Isolated Microphthalmia 5An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod an Isolated Microphthalmia 6An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that is caused by homozy Isolated Microphthalmia 7An isolated microphthalmia characterized by unilateral microphthalmia that is caused by caused by mutation in the GDF3 gene on chromosome 12p13.Isolated Microphthalmia 8An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that is caused by homozygous mutation in the ALDH1A3 gene on chromosome 15q26.Isolated Mitochondrial MyopathyA mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that is caused by heterozygous mutation in the CHCHD10 gene on chromosome 2 Isolated Sulfite Oxidase DeficiencyAn 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-ons Isoniazide AllergyA drug allergy that triggered by isoniazide.Isovaleric AcidemiaAn organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.Israeli Tick TyphusA spotted fever that is caused by Rickettsia conorii subsp israelensis, which is transmitted by ticks (Rhipicephalus sanguineus). The infection causes fever, causes eschar, causes regional adenopathy, and causes maculopa ITM2B-Related Cerebral Amyloid Angiopathy 1A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that is caus ITM2B-Related Cerebral Amyloid Angiopathy 2A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that is caused by an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.ITPA low platelet count that can cause easy bruising and bleeding. Tracking your symptoms and connecting with others who understand can help you manage day to day.IVIC SyndromeA syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that is caused by heterozygous mutation in the SALL4 gene on chromoso

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