HP:0000670 | Carious teeth | |
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HP:0000691 | Microdontia | |
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HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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HP:0000944 | Abnormality of the metaphyses | |
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HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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HP:0001249 | Mental retardation | |
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HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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HP:0001508 | Failure to thrive | |
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HP:0001738 | Exocrine pancreatic insufficiency | |
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HP:0001873 | Thrombocytopenia | |
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HP:0001875 | Neutropenia | |
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HP:0001903 | Anemia | |
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HP:0001915 | Aplastic anemia | |
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HP:0002024 | Malabsorption | |
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HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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HP:0002719 | Recurrent infections | |
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HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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HP:0002863 | Myelodysplasia | |
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HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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HP:0004808 | Acute myeloid leukemia | "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators] |
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HP:0005528 | Bone marrow hypoplasia | |
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HP:0008064 | Ichthyosiform abnormality of the skin | |
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HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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HP:0011107 | Recurrent aphthous stomatitis | "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson] |
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HP:0100651 | Diabetes mellitus Type I | |
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