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hyper IgE syndrome
|
DOID_0080545 |
[A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.] |
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phagocyte bactericidal dysfunction
|
DOID_3262 |
[A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection.] |
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microcystic meningioma
|
DOID_4594 |
|
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childhood meningioma
|
DOID_4593 |
|
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piebaldism
|
DOID_3263 |
[An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12.] |
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integumentary system disease
|
DOID_16 |
[A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.] |
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subacute leukemia
|
DOID_3264 |
[A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.] |
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leukemia
|
DOID_1240 |
[A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.] |
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obsolete central nervous system adult tumor
|
DOID_4596 |
|
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obsolete adult meningioma
|
DOID_4595 |
|
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chronic granulomatous disease
|
DOID_3265 |
[A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.] |
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obsolete deletion of chromosome 3p associated meningioma
|
DOID_4598 |
|
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mucinous ovarian cystadenoma
|
DOID_3267 |
[An ovarian cystadenoma that is characterized by the presence of mucin.] |
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ovarian cystadenoma
|
DOID_3269 |
[An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed.] |
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ovarian benign neoplasm
|
DOID_0060112 |
[A female reproductive organ benign neoplasm that is located_in the ovary.] |
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Abnormality of connective tissue
|
HP_0003549 |
|
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Abnormality of the musculoskeletal system
|
HP_0033127 |
|
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proliferative type fibrocystic change of breast
|
DOID_3274 |
[A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.] |
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obsolete thymus epithelial cancer
|
DOID_3276 |
|
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thymus gland disease
|
DOID_533 |
|