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Decreased sialylation of O-linked protein glycosylation
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HP_0012363 |
[An reduced addition of sialic acids to O-linked glycans.] |
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Abnormal sialylation of O-linked protein glycosylation
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HP_0012362 |
[An anomaly of the addition of sialic acids to O-linked glycans.] |
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obsolete Abnormal malar bone morphology
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HP_0012369 |
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Flat face
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HP_0012368 |
[Absence of concavity or convexity of the face when viewed in profile.] |
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Extra fontanelles
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HP_0012367 |
[Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.] |
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Abnormal fontanelle morphology
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HP_0011328 |
[An abnormality of the fontanelle.] |
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Increased fucosylation of O-linked protein glycosylation
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HP_0012361 |
[Increased addition of fucose sugar units to O-linked glycans.] |
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Decreased fucosylation of O-linked protein glycosylation
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HP_0012360 |
[A reduction of the addition of fucose sugar units to O-linked glycans.] |
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Prelingual sensorineural hearing impairment
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HP_0000399 |
[A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.] |
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Childhood onset sensorineural hearing impairment
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HP_0011474 |
[Sensorineural hearing impairment with childhood onset.] |
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coordination entity
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CHEBI_33240 |
[An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands).] |
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Prominent antihelix
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HP_0000395 |
[The presence of an abnormally prominent antihelix.] |
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Abnormal antihelix morphology
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HP_0009738 |
[An abnormality of the antihelix.] |
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Overfolded helix
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HP_0000396 |
[A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.] |
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Abnormally folded helix
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HP_0008544 |
[Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.] |
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Thickened helices
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HP_0000391 |
[Increased thickness of the helix of the ear.] |
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Lop ear
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HP_0000394 |
[Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.] |
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Hemianopia
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HP_0012377 |
[Partial or complete loss of vision in one half of the visual field of one or both eyes.] |
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Visual field defect
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HP_0001123 |
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Microphakia
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HP_0012376 |
[Abnormal smallness of the lens.] |