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Triangular epiphysis of the distal phalanx of the thumb
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HP_0009685 |
[A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.] |
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Dermal papillary IgA deposition
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HP_0034642 |
[Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.] |
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Abnormal foot bone ossification
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HP_0010675 |
[An abnormality of the formation and mineralization of any bone of the skeleton of foot.] |
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Mechanical ileus
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HP_0010676 |
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Dermal immune complex deposition
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HP_0034643 |
[Accumulation of antigen-bound antibody in the skin.] |
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Abnormal liver metabolite concentration
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HP_0034644 |
[The concentration of a metabolite in the liver is above or below the limits of normal.] |
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Hepatic polyglucosan accumulation
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HP_0034645 |
[Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver.] |
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Storage in hepatocytes
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HP_0031137 |
[Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.] |
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Decreased CSF guanidinoacetic acid concentration
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HP_0020005 |
[The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is below the lower limit of normal.] |
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Ciliary body coloboma
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HP_0020006 |
[A coloboma of the ciliary body.] |
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History of disease onset in winter
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HP_0020008 |
[The initial manifestation of a disease or symptom occurring during the winter season.] |
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History of disease onset in summer
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HP_0020009 |
[The initial manifestation of a disease or symptom occurring during the summer season.] |
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Symmetric T2-signal increase with T1-signal decrease in the putamen
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HP_0007039 |
[A symmetric magnetic resonance imaing (MRI) abnormality of the basal ganglia characterized by an increase of signal intensity in T2-weighted images and a corresponding signal decrease on T1-weighted images.] |
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Muscle fiber granulofilamentous inclusion bodies
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HP_0034635 |
[The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments.] |
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Muscle fiber inclusion bodies
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HP_0100299 |
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Bone marrow myeloid vacuolization
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HP_0034636 |
[Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.] |
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Hypoplasia of olfactory tract
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HP_0007036 |
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Pulmonary cylindroma
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HP_0034637 |
[A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.] |
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Low placental alkaline phosphatase
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HP_0010688 |
[An abnormally reduced level of alkaline phosphatase, placental type in the blood.] |
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Anterior encephalocele
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HP_0007035 |
[A type of congenital malformation in which brain tissue protrudes through a defect in the anterior (front) part of the skull.] |