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Decreased circulating dihydrotestosterone concentration
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HP_0033810 |
[A reduced concentration of dihydrotestosterone in the blood circulation.] |
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tyrosine-protein phosphatase non-receptor type substrate 1
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PR_000001968 |
[A SIRP/SHPS-1 family protein that is a translation product of the human SIRPA gene or a 1:1 ortholog thereof.] |
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SIRP/SHPS-1 family protein
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PR_000001832 |
[A protein with core architecture consisting of a signal sequence, one Immunoglobulin V-set domain (Pfam:PF07686), two Immunoglobulin C1-set domains (Pfam:PF07654), a single-pass transmembrane region and a very small cytoplasmic region.] |
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urokinase plasminogen activator surface receptor
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PR_000001969 |
[A protein that is a translation product of the human PLAUR gene or a 1:1 ortholog thereof.] |
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Severe postnatal growth retardation
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HP_0008850 |
[Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.] |
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CD27 molecule
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PR_000001963 |
[A protein that is a translation product of the human CD27 gene or a 1:1 ortholog thereof.] |
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Perilymphatic
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HP_0033819 |
[Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel).] |
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Reticular
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HP_0033818 |
[Applies to an abnormality whose distribution and appearance resembles a net or network-like structure.] |
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ammonium
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CHEBI_28938 |
[An onium cation obtained by protonation of ammonia.] |
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citrate(3-)
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CHEBI_16947 |
[A tricarboxylic acid trianion, obtained by deprotonation of the three carboxy groups of citric acid.] |
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Partial-complete absence of 5th phalanges
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HP_0006209 |
|
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Non-necrotizing granuloma
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HP_0033805 |
[A granuloma which is not associated with necrotic changes.] |
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Partial fusion of carpals
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HP_0006207 |
|
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Blistering by histological location
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HP_0033801 |
[Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.] |
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Metaphyseal cupping of proximal phalanges
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HP_0006208 |
[Metaphyseal cupping affecting the proximal phalanges.] |
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Sub-lamina densa cleavage
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HP_0033803 |
[A type of blistering in which the cleavage plane of blisters is located below the lamina densa.] |
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calciol
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CHEBI_28940 |
[A hydroxy seco-steroid that is (5Z,7E)-9,10-secocholesta-5,7,10(19)-triene in which the pro-S hydrogen at position 3 has been replaced by a hydroxy group. It is the inactive form of vitamin D3, being hydroxylated in the liver to calcidiol (25-hydroxyvitamin D3), which is then further hydroxylated in the kidney to give calcitriol (1,25-dihydroxyvitamin D3), the active hormone.] |
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seco-cholestane
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CHEBI_36818 |
|
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Irregular phalanges
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HP_0006205 |
[Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.] |
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Hypersegmentation of proximal phalanx of second finger
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HP_0006206 |
[Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.] |