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2-hydroxyglutarate aciduria
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HP_0032278 |
[The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Absent pigmentation of the limbs
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HP_0012320 |
[Lack of skin pigmentation (coloring) of the arms and legs.] |
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layer of tympanic membrane
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UBERON_0010071 |
|
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intermediate layer of tympanic membrane
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UBERON_0010070 |
[The intermediate fibrous layer of the tympanic membrane.] |
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Chronic myelomonocytic leukemia
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HP_0012325 |
[A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.] |
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Sleep myoclonus
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HP_0012323 |
[Myoclonus that occurs during the initial phases of sleep.] |
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Myoclonus
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HP_0001336 |
[Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.] |
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sacral neural crest
|
UBERON_0010075 |
[One of the 5 distinct and partially overlapping functional domains of the premigratory neural crest. The vagal and sacral neural crest cells develop into the ganglia of the enteric nervous system, also known as the parasympathetic ganglia.] |
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gravid organism
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UBERON_0009097 |
[An organism containing a developing embryo, fetus, or unborn offspring within the body.] |
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adult organism
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UBERON_0007023 |
[A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage.] |
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chromaffin system
|
UBERON_0010074 |
[Organ system subdivision that consists primarily of chromaffin cells and their supporting structures.] |
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network of trabecular spaces in bone tissue
|
UBERON_0010076 |
[Tissue cavity consisting of intercommunicating trabecular spaces in the cancellous bone.] |
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aromatic carboxylic acid
|
CHEBI_33859 |
[Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring.] |
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High forehead
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HP_0000348 |
[An abnormally increased height of the forehead.] |
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Widow's peak
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HP_0000349 |
[Frontal hairline with bilateral arcs to a low point in the midline of the forehead.] |
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High anterior hairline
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HP_0009890 |
[Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.] |
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amino acid
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CHEBI_33709 |
[A carboxylic acid containing one or more amino groups.] |
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Posteriorly rotated ears
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HP_0000358 |
[A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).] |
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Increased resting energy expenditure
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HP_0012339 |
[An increase in the number of calories used per unit time.] |
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Abnormal energy expenditure
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HP_0012338 |
[Any anomaly in the utilization of energy (calories).] |