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immunodeficiency 69
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DOID_0112006 |
[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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T cell and NK cell immunodeficiency
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DOID_0080710 |
[A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.] |
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immunodeficiency 70
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DOID_0112005 |
[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 71
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DOID_0112004 |
[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 33
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DOID_0112003 |
[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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anterograde amnesia
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DOID_5340 |
[An amnestic disorder that involves the impaired or lost ability to memorize new things.] |
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prostate transitional cell carcinoma
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DOID_4011 |
[A prostate carcinoma that derives_from transitional epithelial cells.] |
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childhood endodermal sinus tumor
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DOID_5342 |
[An endodermal sinus tumor that occurs in children.] |
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endodermal sinus tumor
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DOID_1911 |
[A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.] |
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obsolete renal pelvis and ureter cancer
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DOID_4010 |
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pineal region yolk sac tumor
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DOID_5341 |
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obsolete menopausal syndrome
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DOID_6675 |
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urethra transitional cell carcinoma
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DOID_4013 |
[An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.] |
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testicular non-seminomatous germ cell cancer
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DOID_5345 |
[A testicular malignant germ cell cancer that is characterized by the absence of a seminomatous component.] |
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central nervous system endodermal sinus tumor
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DOID_5343 |
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papillary transitional carcinoma
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DOID_4012 |
[A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium.] |
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tooth and nail syndrome
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DOID_6678 |
[A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails.] |
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obsolete mediastinal endodermal sinus tumor
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DOID_5346 |
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sarcomatoid transitional cell carcinoma
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DOID_4014 |
[A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.] |
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Froelich syndrome
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DOID_6676 |
[A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity.] |