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sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
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DOID_0080209 |
[A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.] |
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sideroblastic anemia
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DOID_8955 |
[A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).] |
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pulmonary hypertension
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DOID_6432 |
[A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.] |
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carcinoma of supraglottis
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DOID_7763 |
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supraglottis cancer
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DOID_13476 |
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subglottis carcinoma
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DOID_7764 |
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subglottis cancer
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DOID_11472 |
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childhood multilocular cystic kidney neoplasm
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DOID_7762 |
[A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma.] |
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auditory system cancer
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DOID_833 |
[An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs.] |
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Staphylococcaceae
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NCBITaxon_90964 |
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testicular infarct
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DOID_5104 |
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Coats disease
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DOID_7765 |
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retinal telangiectasia
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DOID_7736 |
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obsolete achromic nevus
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DOID_5107 |
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choroid cancer
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DOID_12759 |
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punctate palmoplantar keratoderma type I
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DOID_0080214 |
[A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles.] |
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punctate palmoplantar keratoderma
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DOID_0060361 |
[A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.] |
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lacrimal passage granuloma
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DOID_10174 |
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developmental and epileptic encephalopathy 8
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DOID_0080215 |
[A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.] |
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optic papillitis
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DOID_10175 |
[An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc.] |