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Hypoplasia of the midbrain
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HP_0034259 |
[A developmental defect characterized by underdevelopment of the mesencephalon.] |
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Distal radioulnar joint translation
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HP_5000049 |
[Abnormal linear movement or displacement of the ulnar head relative to the radius at the wrist, indicating instability of the distal radioulnar joint, which is the distal articulation between the radius and ulna, acting as a major weight-bearing joint at the wrist and distributing forces across the forearm bones.] |
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Anti-Kv1.4 antibody
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HP_5000048 |
[The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.] |
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Anti-ryanodine receptor antibody
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HP_5000047 |
[The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor.] |
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Anti-Lrp4 antibody positivity
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HP_5000046 |
[The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).] |
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Fetal nuchal edema
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HP_0034250 |
[Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.] |
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Abnormal corneal reflex
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HP_0034251 |
[An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.] |
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Absent corneal reflex
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HP_0034252 |
[Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.] |
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macromolecule catabolic process
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GO_0009057 |
[The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass.] |
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D-asparagine
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CHEBI_28159 |
[An optically active form of asparagine having D-configuration.] |
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asparagine
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CHEBI_22653 |
[An alpha-amino acid in which one of the hydrogens attached to the alpha-carbon of glycine is substituted by a 2-amino-2-oxoethyl group.] |
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obsolete Pneumocystis carinii pneumonia
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HP_0034286 |
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Afibrinogenemia
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HP_0034287 |
[Lack of detectable fibrinogen in the blood circulation.] |
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Elevated circulating reverse T3 concentration
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HP_0034288 |
[Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is above the upper limit of normal.] |
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Abnormal circulating reverse T3 concentration
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HP_0025120 |
[Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is ouside of the limits of normal.] |
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Elevated circulating rT3/T3 ratio
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HP_0034289 |
[An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.] |
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euchromatin
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GO_0000791 |
[A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation.] |
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chromatin
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GO_0000785 |
[The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.] |
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heterochromatin
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GO_0000792 |
[A compact and highly condensed form of chromatin that is refractory to transcription.] |
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Target cells
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HP_0034280 |
[Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.] |