| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0001081 | Cholelithiasis | |
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| HP:0001082 | Cholecystitis | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001560 | Abnormality of the amniotic fluid | "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001790 | Nonimmune hydrops fetalis | |
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| HP:0001901 | Erythrocytosis | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0003281 | Increased serum ferritin | |
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| HP:0003452 | Increased serum iron | |
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| HP:0004447 | Poikilocytosis | |
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| HP:0004804 | congenital hemolytic anemia | |
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| HP:0004870 | chronic hemolytic anemia | |
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| HP:0005502 | Increased red cell osmotic fragility | |
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| HP:0006579 | Prolonged neonatal jaundice | |
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| HP:0008282 | Unconjugated hyperbilirubinemia | |
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| HP:0011273 | Anisocytosis | "Abnormally increased variability in the size of erythrocytes." [HPO:probinson] |
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| HP:0012463 | Elevated transferrin saturation | "An above normal level of saturation of serum transferrin with iron." [HPO:probinson] |
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| HP:0025109 | Reduced red cell pyruvate kinase activity | "Decrease in the activity of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate." [PMID:7949104] |
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| HP:0030271 | Reduced erythrocyte 2,3-diphosphoglycerate concentration | "2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes." [HPO:probinson] |
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