| 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:0000034 | Hydrocele | |
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| HP:0000282 | Facial edema | |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000378 | Cup-shaped ears | "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] |
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| HP:0000465 | Webbed neck | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000821 | Hypothyroidism | |
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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:0000980 | Pallor | |
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| HP:0001004 | Lymphedema | |
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| HP:0001081 | Cholelithiasis | |
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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:0001541 | Ascites | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001790 | Nonimmune hydrops fetalis | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002593 | Intestinal lymphangiectasia | |
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| HP:0002619 | Varicose veins | |
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| HP:0002625 | Deep venous thrombosis | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0003281 | Increased serum ferritin | |
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| HP:0003641 | Hemoglobinuria | |
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| HP:0003812 | Phenotypic variability | |
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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:0004392 | Prune belly | |
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| HP:0005535 | Exercise-induced hemolysis | |
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| HP:0007430 | Generalized edema | "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:curators] |
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| HP:0008269 | Increased red cell hemolysis by shear stress | |
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| HP:0010310 | Chylothorax | "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators] |
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| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
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| HP:0031188 | Genital edema | "A buildup of fluid that causes swelling in the soft tissues of the genital area." [] |
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| HP:0100539 | Periorbital edema | |
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| HP:0100658 | Cellulitis | |
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