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immunodeficiency 64
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DOID_0111980 |
[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.] |
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obsolete lipomatous cancer
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DOID_3939 |
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obsolete primary streptococcal infectious disease
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DOID_0050421 |
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obsolete primary Streptococcaceae infectious disease
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DOID_0050420 |
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immunodeficiency 13
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DOID_0111987 |
[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.] |
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long QT syndrome 15
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DOID_0110656 |
[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.] |
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congenital myasthenic syndrome 8
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DOID_0110657 |
[A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.] |
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immunodeficiency 12
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DOID_0111988 |
[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.] |
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immunodeficiency 32B
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DOID_0111985 |
[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.] |
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long QT syndrome 13
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DOID_0110654 |
[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3.] |
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long QT syndrome 14
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DOID_0110655 |
[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11.] |
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immunodeficiency 32A
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DOID_0111986 |
[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.] |
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immunodeficiency 52
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DOID_0111983 |
[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.] |
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long QT syndrome 11
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DOID_0110652 |
[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2.] |
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long QT syndrome 12
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DOID_0110653 |
[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.] |
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immunodeficiency 58
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DOID_0111984 |
[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.] |
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immunodeficiency 43
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DOID_0111981 |
[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.] |
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long QT syndrome 9
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DOID_0110650 |
[A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3.] |
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long QT syndrome 10
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DOID_0110651 |
[A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3.] |
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immunodeficiency 56
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DOID_0111982 |
[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.] |
