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Disease	Synonyms	Description	Articles	Phenotypes
immunodeficiency 19	IMD19; SCID T cell-negative, B cell-positive, NK c.. [+] IMD19; SCID T cell-negative, B cell-positive, NK cell-positive; severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive; CD3-delta deficiency [-]	A severe combined immunodeficiency characterized b..[+] A 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 that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. [-]
immunodeficiency 17	IMD17; immunodeficiency 17, CD3 gamma deficient; C.. [+] immunodeficiency 17, CD3 gamma deficient; IMD17; CD3-gamma deficiency; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive [-]	A T cell deficiency characterized by partial T-cel..[+] A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. [-]
immunodeficiency 59	IMD59; immunodeficiency 59 and hypoglycemia; granu.. [+] immunodeficiency 59 and hypoglycemia; IMD59; granulocytopenia with immunoglobin abnormality [-]	A B cell and dendritic cell deficiency characteriz..[+] A 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 hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. [-]
immunodeficiency 44	IMD44	A primary immunodeficiency disease characterized b..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. [-]
immunodeficiency 9	immune dysfunction with T-cell inactivation due to.. [+] immune dysfunction with T-cell inactivation due to calcium entry defect 1; IMD9; CID due to ORAI1 deficiency; combined immunodeficiency due to ORAI1 deficiency [-]	A T cell deficiency characterized by early onset o..[+] A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. [-]
immunodeficiency 7	immunodeficiency 7, TCR-alpha/beta deficient; IMD7.. [+] immunodeficiency 7, TCR-alpha/beta deficient; IMD7; TCR-alpha-beta-positive T-cell deficiency [-]	A T cell deficiency characterized by decreased or ..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. [-]
immunodeficiency 65	immunodeficiency 65, susceptibility to viral infec.. [+] immunodeficiency 65, susceptibility to viral infections; IMD65 [-]	A primary immunodeficiency disease characterized b..[+] A 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 vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. [-]
immunodeficiency 49	IMD49; SCID, T-cell negative, B-cell positive, NK .. [+] IMD49; SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities; severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities [-]	A T cell deficiency characterized by T cell lympho..[+] A 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 has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. [-]
immunodeficiency 64	IMD64	A T cell, B cell, and NK cell deficiency character..[+] A 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 T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. [-]
immunodeficiency 43	IMD43; B2M deficiency; beta-2-microglobulin defici.. [+] IMD43; B2M deficiency; beta-2-microglobulin deficiency; hypercatabolic hypoproteinemia [-]	A primary immunodeficiency disease characterized b..[+] A 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 excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. [-]
immunodeficiency 56	IL21R immunodeficiency; IMD56; combined immunodefi.. [+] IMD56; IL21R immunodeficiency; combined immunodeficiency due to IL21R deficiency [-]	A combined T cell and B cell immunodeficiency char..[+] A 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, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. [-]
immunodeficiency 52	IMD52; severe combined immunodeficiency due to LAT.. [+] IMD52; severe combined immunodeficiency due to LAT deficiency [-]	A T cell deficiency characterized by onset of seve..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. [-]
immunodeficiency 58	IMD58; severe combined immunodeficiency due to CAR.. [+] IMD58; severe combined immunodeficiency due to CARMIL2 deficiency [-]	A combined T cell and B cell immunodeficiency char..[+] A 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-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. [-]
immunodeficiency 32B	immunodeficiency 32B, monocyte and dendritic cell .. [+] immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive; IMD32B; autosomal recessive IRF8 deficiency [-]	A monocyte, dendritic cell, and NK cell deficiency..[+] A 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 that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. [-]
immunodeficiency 32A	immunodeficiency 32A, mycobacteriosis, autosomal d.. [+] immunodeficiency 32A, mycobacteriosis, autosomal dominant; IMD32A; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; MSMD due to partial IRF8 deficiency [-]	A dendritic cell deficiency characterized by marke..[+] A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. [-]
immunodeficiency 13	IMD13; idiopathic CD4 lymphopenia; ICL	A T cell deficiency characterized by decreased CD4..[+] A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. [-]
immunodeficiency 12	IMD12; combined immunodeficiency due to MALT1 defi.. [+] IMD12; combined immunodeficiency due to MALT1 deficiency [-]	A combined immunodeficiency characterized by decre..[+] A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. [-]
immunodeficiency 35	IMD35; autosomal recessiv HIES with atypical mycob.. [+] IMD35; autosomal recessiv HIES with atypical mycobacteriosis; autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis; susceptibility to infection due to TYK2 deficiency; TYK2 deficiency; tyrosine kinase 2 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. [-]
immunodeficiency 30	IMD30; Mendelian susceptibility to interleukin 12 .. [+] IMD30; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency [-]	A T cell and NK cell immunodeficiency characterize..[+] A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. [-]
immunodeficiency 62	IMD62	A B cell deficiency characterized by onset late in..[+] A 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 almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. [-]
immunodeficiency 53	IMD53	A combined T cell and B cell immunodeficiency char..[+] A 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 antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. [-]
immunodeficiency 55	IMD55; combined immunodeficiency due to GINS1 defi.. [+] IMD55; combined immunodeficiency due to GINS1 deficiency [-]	A combined immunodeficiency characterized by intra..[+] A 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 chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. [-]
immunodeficiency 45	IMD45	A primary immunodeficiency disease characterized b..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. [-]
immunodeficiency 28	IMD28; immunodeficiency 28, mycobacteriosis; IFNGR.. [+] immunodeficiency 28, mycobacteriosis; IMD28; IFNGR2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency; MSMD due to complete IFNgammaR2 deficiency; MSMD due to complete interferon gamma receptor 2 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. [-]
immunodeficiency 51	IMD51; CANDF5; familial candidiasis 5	A primary immunodeficiency disease characterized b..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. [-]
immunodeficiency 63	immunodeficiency 63 with lymphoproliferation and a.. [+] immunodeficiency 63 with lymphoproliferation and autoimmunity; IMD63; IL2RB deficiency [-]	A T cell and NK cell immunodeficiency characterize..[+] A 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 proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. [-]
immunodeficiency 66	IMD66	A primary immunodeficiency disease characterized b..[+] A 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 affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. [-]
immunodeficiency 61	IMD61	A B cell deficiency characterized by onset in earl..[+] A 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 has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. [-]
immunodeficiency 34	immunodeficiency 34, mycobacteriosis, X-linked; IM.. [+] immunodeficiency 34, mycobacteriosis, X-linked; IMD34; AMCBX2; familial atypical mycobacteriosis X-linked 2; X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; X-linked MSMD due to CYBB deficiency [-]	A phagocyte bactericidal dysfunction characterized..[+] A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. [-]
immunodeficiency 50	IMD50; immunodeficiency 50 X linked recessive; CID.. [+] immunodeficiency 50 X linked recessive; IMD50; CID due to Moesin deficiency; combined immunodeficiency due to Moesin deficiency; X-linked Moesin-associated immunodeficiency; MSN-related combined immunodeficiency [-]	A combined immunodeficiency characterized by profo..[+] A 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 zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. [-]
immunodeficiency 47	immunodeficiency and hepatopathy with or without n.. [+] immunodeficiency and hepatopathy with or without neurologic features; IMD47; CDG IIs; CDG2S; CDGIIs; congenital disorder of glycosylation type IIs [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. [-]
immunodeficiency 33	IMD33; X-linked mendelian susceptibility to mycoba.. [+] IMD33; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency; X-linked MSMD due to IKBKG deficiency; X-linked MSMD due to NEMO deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency [-]	A combined immunodeficiency characterized by early..[+] A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. [-]
immunodeficiency 71	immunodeficiency 71 with inflammatory disease and .. [+] immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia; IMD71; platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID [-]	A combined immunodeficiency characterized by throm..[+] A 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 features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. [-]
immunodeficiency 70	IMD70	A combined T cell and B cell immunodeficiency char..[+] A 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 has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. [-]
immunodeficiency 69	IMD69	A T cell and NK cell immunodeficiency characterize..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. [-]
immunodeficiency 72	immunodeficiency 72 with autoinflammation	A combined immunodeficiency characterized by onset..[+] A 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, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. [-]
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	IMD73B	A combined immunodeficiency characterized by onset..[+] A 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, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. [-]
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	IMD73C	A combined immunodeficiency characterized by onset..[+] A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. [-]
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	IMD73A; neutrophil immunodeficiency syndrome	A combined immunodeficiency characterized by onset..[+] A 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 has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. [-]
inflammatory bowel disease 30	inflammatory bowel disease (Crohn disease) 30; IBD.. [+] inflammatory bowel disease (Crohn disease) 30; IBD30 [-]	An inflammatory bowel disease characterized by abd..[+] An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. [-]
inflammatory bowel disease 29	IBD29	An inflammatory bowel disease that has_material_ba..[+] An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. [-]
iminoglycinuria		A renal tubular transport disease characterized by..[+] A 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 has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. [-]
degenerative disc disease	intervertebral disc degeneration; cervical disc de.. [+] intervertebral disc degeneration; cervical disc degenerative disease; vertebral disc disease; lumbar disc degeneration [-]	A bone deterioration disease that has_material_bas..[+] A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. [-]
melanotic neuroectodermal tumor	Infantile Melanotic neuroectodermal neoplasm; Mela.. [+] Infantile Melanotic neuroectodermal neoplasm; Melanotic neuroectodermal tumor (morphologic abnormality); Melanotic neuroectodermal tumor of infancy (morphologic abnormality); Melanotic neuroectodermal tumor; Melanotic neuroectodermal tumor of infancy; Melanotic neuroectodermal tumour of infancy; Pigmented neuroectodermal tumour of infancy; melanotic neuroectodermal tumour; Melanotic neuroectodermal tumour [-]	n_a
arthropathy	Infectious arthropathy; ankylosis of forearm joint.. [+] Infectious arthropathy; ankylosis of forearm joint; ankylosis of hand joint; Ankylosis of joint of ankle and/or foot (disorder); Ankylosis of joint of forearm (disorder); Ankylosis of joint of hand (disorder); ankylosis of joint of multiple sites; Ankylosis of joint of multiple sites (disorder); ankylosis of joint of pelvic region and thigh; Ankylosis of joint of upper arm (disorder); ankylosis of lower leg joint; ankylosis of upper arm joint; Joint ankylosis of the ankle and foot; Joint ankylosis of the ankle and/or foot (disorder); Joint ankylosis of the forearm; Joint ankylosis of the forearm (disorder); Joint ankylosis of the hand; Joint ankylosis of the lower leg; Joint ankylosis of the lower leg (disorder); Joint ankylosis of the pelvic region and thigh; Joint ankylosis of the shoulder region (disorder); Joint ankylosis of the upper arm; Joint ankylosis of the upper arm (disorder); Ankylosis of joint of lower leg (disorder); Ankylosis of joint of shoulder region (disorder); Joint ankylosis of the pelvic region and thigh (disorder); ankylosis of ankle and foot joint; Ankylosis of joint of ankle and/or foot; Ankylosis of joint of forearm; Ankylosis of joint of hand; Ankylosis of joint of multiple sites; Ankylosis of joint of shoulder region; Ankylosis of multiple joints; Joint ankylosis of the ankle and/or foot; Ankylosis of joint of lower leg; ankylosis of joint of shoulder region; Ankylosis of joint of upper arm; Joint ankylosis of the shoulder region [-]	A bone disease that is located_in the joint.
renal tubular transport disease	inborn renal tubular transport disorder	n_a	38 articles
kidney disease	impaired renal function disease; nephropathy	A urinary system disease that is located_in the ki..[+] A urinary system disease that is located_in the kidney. [-]	92 articles	51 matches
primary immunodeficiency disease	immunodeficiency syndrome; immune deficiency disor.. [+] immunodeficiency syndrome; immune deficiency disorder; hypoimmunity [-]	An immune system disease that results when one or ..[+] An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. [-]	26 articles	12 matches
myositis	Inflammatory disorder of muscle; Inflammatory diso.. [+] Inflammatory disorder of muscle; Inflammatory disorder of muscle (disorder) [-]	A myopathy characterized by muscle inflammation.	4 articles
purine-pyrimidine metabolic disorder	inborn errors of purine-pyrimidine metabolism	An inherited metabolic disorder involving dysfunct..[+] An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. [-]

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