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Cone-shaped epiphysis
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HP_0010579 |
[Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.] |
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Subcutaneous ossification
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HP_0034282 |
[Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.] |
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Ectopic ossification
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HP_0011986 |
[Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.] |
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Increased fecal protoporphyrin concentration
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HP_0034283 |
[Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces.] |
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Recurrent gingivitis
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HP_0034284 |
[Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.] |
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Enteroviral encephalitis
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HP_0034285 |
[Inflammation of the brain related to infection by an enterovirus.] |
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aspartate family amino acid metabolic process
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GO_0009066 |
[The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine.] |
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butan-1-amine
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CHEBI_43799 |
[A primary aliphatic amine that is butane substituted by an amino group at position 1.] |
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primary aliphatic amine
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CHEBI_17062 |
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urea
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CHEBI_16199 |
[A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O).] |
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monocarboxylic acid amide
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CHEBI_29347 |
[A carboxamide derived from a monocarboxylic acid.] |
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Verrucous epidermal nevus
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HP_0034275 |
[A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life.] |
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Epidermal nevus
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HP_0010816 |
[Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.] |
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Elevated circulating thymidine concentration
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HP_0034276 |
[Concentration of thymidine in the blood circulation above the normal range.] |
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Elevated circulating deoxyuridine concentration
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HP_0034277 |
[Concentration of 2-deoxyuridine in the blood circulation is above the normal range.] |
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Multinucleated erythroblast
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HP_0034278 |
[Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.] |
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2,8-dihydroxyadenine crystalluria
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HP_0034279 |
[The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.] |
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Crystalluria
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HP_0020074 |
[The presence of crystals in the urine.] |
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Serrated incisors
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HP_0034270 |
[Incisor teeth with irregular edges said to resemble a saw.] |
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Copper beaten skull
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HP_0034271 |
[Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.] |