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Corneal erosion
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HP_0200020 |
[An erosion or abrasion of the cornea's outermost layer of epithelial cells.] |
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Band keratopathy
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HP_0000585 |
[An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.] |
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Central opacification of the cornea
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HP_0011493 |
[Reduced transparency of the central portion of the corneal stroma.] |
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Pigmentary retinopathy
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HP_0000580 |
[An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.] |
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Abnormal retinal pigmentation
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HP_0007703 |
[Any deviation from the normal pigmentation of the retina.] |
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Delayed menarche
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HP_0012569 |
[First period after the age of 15 years.] |
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Delayed puberty
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HP_0000823 |
[Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.] |
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bile acid
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CHEBI_3098 |
[Any member of a group of hydroxy-5beta-cholanic acids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration.] |
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bile acids
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CHEBI_138366 |
[Any member of a group of hydroxy steroids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration, while in lower vertebrates, some bile acids, known as allo-bile acids, have 5alpha-configuration.] |
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hydroxy-5beta-cholanic acid
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CHEBI_24663 |
[Any member of the class of 5beta-cholanic acids carrying at least one hydroxy group at unspecified position.] |
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Premature epimetaphyseal fusion in tibia
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HP_0012564 |
[Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
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Premature epimetaphyseal fusion
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HP_0010588 |
[Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
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Premature epimetaphyseal fusion in foot
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HP_0012563 |
[Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
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Premature epimetaphyseal fusion in hand
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HP_0012562 |
[Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
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Unicuspid aortic valve
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HP_0012561 |
[The presence of an aortic valve with one instead of the normal three cusps (flaps).] |
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Abnormal aortic valve cusp morphology
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HP_0031567 |
[Any structural anomaly of the aortic valve leaflets.] |
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Lower eyelid edema
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HP_0012568 |
[Edema in the region of the Lower eyelid.] |
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Palpebral edema
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HP_0100540 |
[Edema in the region of the eyelids.] |
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Premature epimetaphyseal fusion in ulna
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HP_0012567 |
[Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |
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Premature epimetaphyseal fusion in radius
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HP_0012566 |
[Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.] |