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Synonyms |
Description |
Articles |
Phenotypes |
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immunodeficiency 50
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IMD50; immunodeficiency 50 X linked recessive; CID..
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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
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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.
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immunodeficiency 47
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immunodeficiency and hepatopathy with or without n..
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immunodeficiency and hepatopathy with or without neurologic features; IMD47; CDG IIs; CDG2S; CDGIIs; congenital disorder of glycosylation type IIs
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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.
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immunodeficiency 33
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IMD33; X-linked mendelian susceptibility to mycoba..
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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
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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.
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immunodeficiency 71
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immunodeficiency 71 with inflammatory disease and ..
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immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia; IMD71; platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID
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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.
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immunodeficiency 70
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IMD70
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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.
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immunodeficiency 69
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IMD69
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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.
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immunodeficiency 72
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immunodeficiency 72 with autoinflammation
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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.
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immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
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IMD73B
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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.
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immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
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IMD73C
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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.
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immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
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IMD73A; neutrophil immunodeficiency syndrome
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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.
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inflammatory bowel disease 30
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inflammatory bowel disease (Crohn disease) 30; IBD..
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inflammatory bowel disease (Crohn disease) 30; IBD30
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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.
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inflammatory bowel disease 29
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IBD29
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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.
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iminoglycinuria
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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.
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degenerative disc disease
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intervertebral disc degeneration; cervical disc de..
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intervertebral disc degeneration; cervical disc degenerative disease; vertebral disc disease; lumbar disc degeneration
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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.
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melanotic neuroectodermal tumor
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Infantile Melanotic neuroectodermal neoplasm; Mela..
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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
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n_a
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arthropathy
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Infectious arthropathy; ankylosis of forearm joint..
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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
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A bone disease that is located_in the joint.
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renal tubular transport disease
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inborn renal tubular transport disorder
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n_a
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38 articles
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kidney disease
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impaired renal function disease; nephropathy
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A urinary system disease that is located_in the ki.. [+]A urinary system disease that is located_in the kidney.
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92 articles
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51 matches
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primary immunodeficiency disease
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immunodeficiency syndrome; immune deficiency disor..
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immunodeficiency syndrome; immune deficiency disorder; hypoimmunity
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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.
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26 articles
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12 matches
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myositis
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Inflammatory disorder of muscle; Inflammatory diso..
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Inflammatory disorder of muscle; Inflammatory disorder of muscle (disorder)
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A myopathy characterized by muscle inflammation.
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4 articles
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