| 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: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:0000772 | Abnormality of the ribs | |
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| HP:0000889 | Abnormality of the clavicles | "Any abnormality of the clavicles (collar bones)." [HPO:curators] |
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| HP:0000894 | Short clavicles | |
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| HP:0000912 | Sprengel anomaly | "A complex deformity characterized by congenital elevation of the scapula." [HPO:curators] |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001191 | Abnormality of the carpal bones | "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:curators] |
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| HP:0001199 | Triphalangeal thumb | "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators] |
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| HP:0001245 | Thenar hypoplasia | "Underdevelopment of the thenar eminence." [HPO:curators] |
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| HP:0001377 | Limited elbow extension | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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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:0001643 | Patent ductus arteriosus | |
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| HP:0001679 | Abnormalities of the aorta | |
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| HP:0001684 | Secundum atrial septal defect | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002943 | Thoracic scoliosis | |
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| HP:0002974 | Radioulnar synostosis | "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:curators] |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003063 | Abnormality of the humerus | "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] |
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| HP:0003468 | Abnormalities of the vertebrae | |
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| HP:0003974 | Absent ossification/absence of radius | |
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| HP:0003982 | Absent ossification/absent ulna | |
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| HP:0004383 | Hypoplastic left heart | |
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| HP:0004757 | paroxysmal atrial fibrillation | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006501 | Aplasia/Hypoplasia of the radius | "A small/hypoplastic or absent/aplastic radius." [HPO:curators] |
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| HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
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| HP:0009751 | Aplasia of the pectoralis major muscle | "Absence of the pectoralis major muscle." [HPO:curators] |
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| HP:0009777 | Aplasia of the thumb | "Absent thumb." [HPO:curators] |
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| HP:0009829 | Phocomelia | "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:curators] |
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| HP:0009944 | Partial duplication of the phalanges of the thumb | "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] |
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| HP:0010772 | Anomalous pulmonary venous return | "A developmental defect characterized by abnormal connection of or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood." [HPO:probinson] |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011705 | First degree atrioventricular block | "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." [DDD:dbrown, HPO:probinson] |
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| HP:0011927 | Short digit | "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [HPO:probinson] |
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| HP:0040019 | Finger clinodactyly | |
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| HP:0200021 | Rounded shoulders | |
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