| HP:0000193 | Bifid uvula | "A split or cleft uvula." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000520 | Proptosis | |
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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:0000894 | Short clavicles | |
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| HP:0000922 | Posterior rib cupping | |
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| HP:0000926 | Platyspondyly | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001216 | Delayed maturation/delayed ossification of carpal bones | |
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| HP:0001230 | Broad metacarpals | |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001377 | Limited elbow extension | |
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| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [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:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002647 | Aortic dissection | "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators] |
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| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
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| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002869 | Flared iliac wings | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003026 | Short long bones | |
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| HP:0003085 | Disproportionately long fibulae | |
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| HP:0003180 | Flat acetabular roofs | |
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| HP:0003275 | Narrow pelvis | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0003988 | Long ulna | |
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| HP:0004000 | Chevron-shaped/cone-shaped radial epiphyses | |
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| HP:0004279 | Hypoplastic hand | |
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| HP:0004482 | Relative macrocephaly | "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators] |
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| HP:0004573 | wedge-shaped 11th or 12th thoracic vertebrae | |
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| HP:0004937 | pulmonary artery aneurysm | |
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| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
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| HP:0004981 | prominent ulnar styloid process | |
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| HP:0005066 | cone-shaped epiphyses fused within their metaphyses | |
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| HP:0006009 | Widened phalanges | |
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| HP:0006059 | Cone-shaped metacarpal epiphyses | "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a ball-in-a-socket appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators] |
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| HP:0006371 | Short, broad long bone diaphyses | |
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| HP:0009486 | Radial deviation of the hand | "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [HPO:curators] |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a ball-in-a-socket appearance. The related entity angel-shaped epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] |
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| HP:0010646 | Cervical spine instability | "An abnormal lack of stability of the cervical spine." [HPO:curators] |
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| HP:0011940 | Anterior wedging of T12 | "An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] |
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| HP:0012385 | Camptodactyly | "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] |
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