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Disease	Synonyms	Description	Articles
IGSF1 deficiency syndrome	CHTE; X-linked central congenital hypothyroidism w.. [+] CHTE; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement; central hypothyroidism and testicular enlargement [-]	A syndrome characterized by hypothyroidism that is..[+] A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. [-]
isolated ectopia lentis	IEL; familial ectopia lentis	A lens disease characterized by abnormal stretchin..[+] A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. [-]
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	postnatal progressive microcephaly, seizures, and .. [+] postnatal progressive microcephaly, seizures, and brain atrophy [-]	A brain disease characterized by cerebral and cere..[+] A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. [-]
isolated sulfite oxidase deficiency	sulfocysteinuria	An inherited metabolic disorder characterized by i..[+] An 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-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. [-]
intellectual disability-severe speech delay-mild dysmorphism syndrome	FOXP1 Haploinsufficiency; FOXP1 syndrome; Mental r.. [+] FOXP1 Haploinsufficiency; FOXP1 syndrome; Mental retardation with language impairment and with or without autistic features; FOXP1-Related Neurodevelopmental Disorder [-]	A syndromic intellectual disability characterized ..[+] A 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 speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. [-]
isolated elevated serum creatine phosphokinase levels	idiopathic hyperCKemia; isolated hyperCKemia; elev.. [+] isolated hyperCKemia; idiopathic hyperCKemia; elevated serum CPK [-]	An inherited metabolic disorder characterized by e..[+] An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. [-]
isolated hyperchlorhidrosis	HYCHL; carbonic anhydrase XII deficiency	A skin disease characterized by excessive loss of ..[+] A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. [-]
IVIC syndrome	Instituto Venezolano de Investigaciones Cientifica.. [+] Instituto Venezolano de Investigaciones Cientificas syndrome; Oculootoradial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; oculo-oto-radial syndrome; OORS [-]	A syndrome characterized by radial ray defect of v..[+] A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. [-]
ischiocoxopodopatellar syndrome	ischiopatellar dysplasia; ischiocoxopodopatellar s.. [+] ischiopatellar dysplasia; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; congenital coxa vara, patella aplasia and tarsal synostosis; coxo-podo-patellar syndrome; coxopodipatellar syndrome; small patella syndrome; SPS; patella aplasia, coxa vara, and tarsal synostosis; Scott-Taor syndrome [-]	A dysostosis characterized by hypoplasia or aplasi..[+] A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. [-]	1 articles
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	IBMPFD3; MSP3; multisystem proteinopathy 3	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. [-]
intellectual developmental disorder with short stature and behavioral abnormalities	IDDSSBA	A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. [-]
isolated cryptophthalmia	CRYPTOP; unilateral or bilateral isolated cryptoph.. [+] CRYPTOP; unilateral or bilateral isolated cryptophthalmos [-]	A cryptophthalmia characterized by absence of the ..[+] A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. [-]
infantile hypertrophic cardiomyopathy		A hypertrophic cardiomyopathy characterized by iso..[+] A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. [-]
ichthyosis follicularis-alopecia-photophobia syndrome 1	IFAP syndrome 1 with or without BRESHECK syndrome; .. [+] IFAP syndrome 1 with or without BRESHECK syndrome; IFAP syndrome 1; ichthyosis follicularis-atrichia-photophobia syndrome 1; IFAP syndrome; IFAP syndrome with or without BRESHECK syndrome; ichthyosis follicularis-atrichia-photophobia syndrome [-]	A syndrome characterized by ichthyosis folliculari..[+] A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. [-]
immunodeficiency 38	immunodeficiency 38, mycobacteriosis, autosomal re.. [+] immunodeficiency 38, mycobacteriosis, autosomal recessive; immunodeficiency 38 with basal ganglia calcification; IMD38; autosomal recessive ISG15 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. [-]
immunodeficiency 16	IMD16; combined immunodeficiency due to OX40 defic.. [+] IMD16; combined immunodeficiency due to OX40 deficiency; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with impaired immunity to human herpes virus 8; OX40 deficiency [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. [-]
immunodeficiency 14	IMD14; activated PI3K-delta syndrome; APDS; PASLI .. [+] IMD14; activated PI3K-delta syndrome; APDS; PASLI disease; senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation [-]	A combined T cell and B cell immunodeficiency char..[+] A 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 has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. [-]
immunodeficiency 22	IMD22; SCID due to lymphocyte-specific protein tyr.. [+] IMD22; SCID due to lymphocyte-specific protein tyrosine kinase deficiency; severe combined immunodeficiency due to LCK deficiency; severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency; SCID due to LCK deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. [-]
immunodeficiency 24	IMD24; SCID due to CTPS1 deficiency; severe combin.. [+] IMD24; SCID due to CTPS1 deficiency; severe combined immunodeficiency due to CTPS1 deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. [-]
immunodeficiency 37	IMD37	A combined T cell and B cell immunodeficiency char..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. [-]
immunodeficiency 42	IMD42; autosomal recessive mendelian susceptibilit.. [+] IMD42; autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; autosomal recessive MSMD due to complete RORgamma receptor defiency; autosomal recessive primary immunodeficiency due to RORC mutation [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. [-]
immunodeficiency 20	IMD20; autosomal recessive primary immunodeficienc.. [+] IMD20; autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity; CD16 deficiency; autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. [-]
immunodeficiency 25	IMD25; immunodeficiency due to defect in CD3-zeta; .. [+] immunodeficiency due to defect in CD3-zeta; IMD25 [-]	A T cell deficiency characterized by decreased T c..[+] A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. [-]
immunodeficiency 48	IMD48; combined immunodeficiency due to ZAP70 defi.. [+] IMD48; combined immunodeficiency due to ZAP70 deficiency; zeta-associated-protein 70 deficiency [-]	A T cell deficiency characterized by a selective T..[+] A 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 has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. [-]
immunodeficiency 31B	IMD31B; autosomal recessive immunodeficiency 31B, .. [+] IMD31B; autosomal recessive immunodeficiency 31B, mycobacterial and viral infections; autosomal recessive STAT1 deficiency; predisposition to severe viral infection due to STAT1 deficiency; susceptibility to viral and mycobacterial infections due to STAT1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 31A	IMD31A; autosomal dominant immunodeficiency 31A, m.. [+] IMD31A; autosomal dominant immunodeficiency 31A, mycobacteriosis; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; MSMD due to partial STAT1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 31C	IMD31C; autoimmune enteropathy and endocrinopathy-.. [+] IMD31C; autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; autosomal dominant chronic mucocutaneous familial candidiasis; autosomal dominant immunodeficiency 31C; CANDF7; familial candidiasis 7 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 21	IMD21; combined immunodeficiency with susceptibili.. [+] IMD21; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; monocyte-B-natural killer-dendritic cell deficiency syndrome; monocytopenia and mycobacterial infection syndrome; monocytopenia with susceptibility to infections; MonoMAC [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. [-]
immunodeficiency 46	IMD46; CID due to TFRC deficiency; combined immuno.. [+] IMD46; CID due to TFRC deficiency; combined immunodeficiency due to TFRC deficiency; TFRC-related combined immunodeficiency [-]	A combined T cell and B cell immunodeficiency char..[+] A 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 immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. [-]
immunodeficiency 36	IMD36; activated phosphoinositide 3-kinase delta s.. [+] IMD36; activated phosphoinositide 3-kinase delta syndrome 2 [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. [-]
immunodeficiency 29	IMD29; immunodeficiency 29, mycobacteriosis; IL12B.. [+] immunodeficiency 29, mycobacteriosis; IMD29; IL12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency; MSMD due to complete IL12B deficiency; MSMD due to complete interleukin 12B deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. [-]
immunodeficiency 40	IMD40; DOCK2 deficiency	A combined T cell and B cell immunodeficiency char..[+] A 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 viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. [-]
immunodeficiency 57	immunodeficiency 57 with autoinflammation; immune .. [+] immunodeficiency 57 with autoinflammation; immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome; IMD57 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. [-]
immunodeficiency 23	IMD23; CID due to PGM3 deficiency; combined immuno.. [+] IMD23; CID due to PGM3 deficiency; combined immunodeficiency due to PGM3 deficiency; PGM3-CDG; PGM3-related congenital disorder of glycosylation [-]	A combined T cell and B cells immunodeficiency cha..[+] A 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, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. [-]
immunodeficiency 60	IMD60; BACH2-related immunodeficiency and autoimmu.. [+] IMD60; BACH2-related immunodeficiency and autoimmunity; BRIDA [-]	A combined T cell and B cell immunodeficiency char..[+] A 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 sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. [-]
immunodeficiency 27A	IMD27A; autosomal recessive IFNGR1 deficiency; aut.. [+] IMD27A; autosomal recessive IFNGR1 deficiency; autosomal recessive immunodeficiency 27A, mycobacteriosis; autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency; autosomal recessive MSMD due to partial IFNgammaR1 deficiency; autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. [-]
immunodeficiency 27B	IMD27B; autosomal dominant IFNGR1 deficiency; auto.. [+] IMD27B; autosomal dominant IFNGR1 deficiency; autosomal dominant immunodeficiency 27B, mycobacteriosis; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency; autosomal dominant MSMD due to partial IFNgammaR1 deficiency; autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. [-]
immunodeficiency 11A	IMD11A; CARD11 deficiency; SCID due to CARD11 defi.. [+] IMD11A; CARD11 deficiency; SCID due to CARD11 deficiency; severe combined immunodeficiency due to CARD11 deficiency [-]	A severe combined immunodeficiency characterized b..[+] A 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 defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. [-]
immunodeficiency 11B	immunodeficiency 11B with atopic dermatitis; IMD11.. [+] immunodeficiency 11B with atopic dermatitis; IMD11B; atopic dermatitis, elevated IgE, and eosinophilia [-]	A T cell deficiency characterized by defects in T-..[+] A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. [-]
immunodeficiency 15B	IMD15B	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. [-]
immunodeficiency 15A	IMD15A	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. [-]
immunodeficiency 26	immunodeficiency 26, with or without neurologic ab.. [+] immunodeficiency 26, with or without neurologic abnormalities; IMD26; SCID due to DNA-PKcs deficiency; severe combined immunodeficiency due to DNA-PKcs deficiency [-]	A severe combined immunodeficiency characterized b..[+] A 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 breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. [-]
immunodeficiency 54	IMD54; familial isolated natural killer cell defic.. [+] IMD54; familial isolated natural killer cell deficiency; NKCD; primary immunodeficiency due to MCM4 deficiency; primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [-]	An NK cell deficiency characterized by severe intr..[+] An 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 has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. [-]
immunodeficiency 41	interleukin-2 receptor alpha chain deficiency; imm.. [+] interleukin-2 receptor alpha chain deficiency; immunodeficiency due to CD25 deficiency; immunodeficiency 41 with lymphoproliferation and autoimmunity; IMD41; IL2RA deficiency; CD25 deficiency [-]	A combined immunodeficiency characterized by a def..[+] A 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 bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. [-]
immunodeficiency 39	IMD39	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. [-]
immunodeficiency 10	immune dysfunction with T-cell inactivation due to.. [+] immune dysfunction with T-cell inactivation due to calcium entry defect 2; IMD10; CID due to STIM1 deficiency; combined immunodeficiency due to STIM1 deficiency; STIM1 deficiency [-]	A T cell and NK cell immunodeficiency characterize..[+] A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. [-]
immunodeficiency 18	IMD18; CD3-epsilon deficiency	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. [-]
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. [-]

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