| HP:0000833 | Glucose intolerance | |
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| HP:0000953 | Hyperpigmentation | |
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| HP:0000980 | Pallor | |
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| HP:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
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| HP:0001081 | Cholelithiasis | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001891 | Iron deficiency anemia | |
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| HP:0001903 | Anemia | |
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| HP:0001924 | Sideroblastic anemia | |
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| HP:0001972 | Macrocytic anemia | |
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| HP:0002094 | Dyspnea | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0004840 | hypochromic, microcytic anemia | |
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| HP:0011031 | Abnormality of iron homeostasis | "An abnormality of the homeostasis (concentration) of `iron cation` (CHEBI:24875)." [HPO:probinson] |
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| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| HP:0012187 | Increased erythrocyte protoporphyrin concentration | "An increased concentration of `protoporphyrins` (CHEBI:26361) in erythrocytes." [HPO:probinson, pmid:18760763] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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