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Two carpal ossification centers present at birth
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HP_0006176 |
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Metacarpal diaphyseal endosteal sclerosis
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HP_0006174 |
[Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.] |
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Thistle tube shaped pulp
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HP_0033790 |
[A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.] |
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Crowded carpal bones
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HP_0006180 |
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obsolete Impaired leukocyte adhesion
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HP_0033798 |
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basophil
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CL_0000767 |
[Any of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A basophil is CD123-positive, CD193-positive, CD203c-positive, and FceRIa-positive.] |
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granulocyte
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CL_0000094 |
[A leukocyte with abundant granules in the cytoplasm.] |
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Decreased acrosin in sperm head
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HP_0031136 |
[A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.] |
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Leukocyte migration defect
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HP_0033797 |
[Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.] |
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Increased annexin V binding to platelet phosphatidylserine
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HP_0031133 |
[Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.] |
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Impaired annexin V binding to platelet phosphatidylserine
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HP_0031132 |
[Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.] |
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Cor triatriatum sinister
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HP_0031134 |
[A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.] |
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Growth without growth hormone
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HP_0033795 |
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Acral overgrowth
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HP_0033794 |
[Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement.] |
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Abnormal platelet phosphatidylserine exposure
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HP_0031131 |
[An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.] |
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Cross bite
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HP_0033792 |
[Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.] |
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Impaired calcium ionophore-induced platelet aggregation
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HP_0031130 |
[Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.] |
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Tooth ankylosis
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HP_0033791 |
[Fusion of a tooth with alveolar bone.] |
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eosinophil
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CL_0000771 |
[Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive.] |
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neutrophil
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CL_0000775 |
[Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.] |