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obsolete Mildly reduced visual acuity
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HP_0007739 |
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Uncontrolled eye movements
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HP_0007738 |
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Spicular pigmentation of the retina
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HP_0007737 |
[Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).] |
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obsolete Pericentral retinal dystrophy
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HP_0007736 |
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proepicardium
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UBERON_0004160 |
[An embryonic group of progenitor cells that forms from an outpouching of the septum transversum near the venous pole of the heart and gives rise to the epicardium.] |
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Enlarged lacrimal glands
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HP_0007734 |
[Abnormally big lacrimal glands.] |
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Abnormal lacrimal gland morphology
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HP_0011482 |
[Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.] |
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Laterally curved eyebrow
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HP_0007733 |
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septum transversum
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UBERON_0004161 |
[A thick plate of mesodermal tissue that occupies the space between the thoracic cavity and yolk stalk in the early embryo, forming a transverse partition partially separating the coelomic cavity into thoracic and abdominal portions. It gives rise to the central tendon of the diaphragm[VHOG].] |
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Lacrimal gland hypoplasia
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HP_0007732 |
[Underdevelopment of the lacrimal gland.] |
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Chorioretinal dysplasia
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HP_0007731 |
[Abnormal development of the choroid and retina.] |
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Abnormal circulating amino sulfonic acid concentration
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HP_0500180 |
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Iris hypopigmentation
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HP_0007730 |
[An abnormal reduction in the amount of pigmentation of the iris.] |
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Hypertaurinemia
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HP_0500181 |
[An increased amount of taurine in the blood.] |
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Hypotaurinemia
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HP_0500182 |
[A decreased amount of taurine in the blood.] |
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anionic amino-acid residue
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CHEBI_64898 |
[An amino-acid residue carrying an overall negative charge.] |
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integrin beta-7
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PR_000009143 |
[An integrin beta that is a translation product of the human ITGB7 gene or a 1:1 ortholog thereof.] |
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integrin beta
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PR_000001861 |
[A protein with core architecture consisting of a large extracellular region containing one Integrin, beta chain domain (Pfam:PF00362), up to four EGF-like domains (Pfam:PF07974), and an Integrin beta tail domain (Pfam:PF07965), followed by a single-pass transmembrane region and a small cytoplasmic region often containing an Integrin beta cytoplasmic domain (Pfam:PF08725).] |
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Reflex asystolic syncope
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HP_0500173 |
[A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.] |
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Focal aware cognitive seizure with left-right confusion
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HP_0032706 |
[A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.] |