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Osteolysis of patellae
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HP_0006378 |
|
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Dumbbell-shaped femur
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HP_0006375 |
[The femur is shortened and displays flaring (widening) of the metaphyses.] |
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Broad long bone diaphyses
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HP_0006371 |
[Increased width of the diaphysis of long bones.] |
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Knee flexion contracture
|
HP_0006380 |
[A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.] |
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Rudimentary fibula
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HP_0006381 |
[Absent or nearly absent fibula. (Does not include aplastic)] |
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Microvillar PAS-positive secretory granules
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HP_0033996 |
[The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.] |
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Myocardial sarcomeric disarray
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HP_0031333 |
[A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.] |
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Microvillus inclusions
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HP_0033995 |
[The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.] |
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Dependency on parenteral nutrition
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HP_0033994 |
[Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.] |
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Cardiomyocyte degeneration
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HP_0031332 |
[Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.] |
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Chronotropic incompetence
|
HP_0033992 |
[Inability of the heart to increase its rate commensurate with increased activity or demand.] |
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Perivascular myocardial immune cell infiltration
|
HP_0031330 |
[An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.] |
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Myocardial immune cell infiltration
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HP_0031321 |
[An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).] |
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Vasa previa
|
HP_0033991 |
[Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.] |
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Cartilaginous tracheobronchomalacia
|
HP_0033990 |
[Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.] |
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Perivascular cardiac fibrosis
|
HP_0031328 |
[A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.] |
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Interstitial cardiac fibrosis
|
HP_0031329 |
[A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.] |
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Hippocampal microinfarct
|
HP_0033989 |
[An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.] |
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Monoclonal light chain cardiac amyloidosis
|
HP_0031326 |
[A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.] |
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Cardiac transthyretin amyloid deposition
|
HP_0031327 |
[A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.] |