HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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HP:0000470 | Short neck | |
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HP:0000944 | Abnormality of the metaphyses | |
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HP:0001156 | Brachydactyly | |
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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: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:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
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HP:0002648 | Abnormality of skull shape | "An abnormality of the shape of the skull." [HPO:curators] |
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HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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HP:0002823 | Abnormality of the femur | "Abnormality of the femur (i.e., the thigh bone)." [HPO:curators] |
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HP:0002857 | Genu valgum | |
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HP:0002967 | Cubitus valgus | |
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HP:0002970 | Genu varum | |
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HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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HP:0002983 | Micromelia | |
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HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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HP:0002986 | Radial bowing | |
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HP:0002997 | Abnormality of the ulna | "Ab abnormality of the ulna bone of the forearm." [HPO:curators] |
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HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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HP:0003027 | Mesomelia | "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken] |
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HP:0003031 | Ulnar bowing | "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators] |
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HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [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:0003067 | Madelung deformity | |
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HP:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
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HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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HP:0003712 | Muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] |
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HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] |
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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:0005019 | Diaphyseal thickening | |
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HP:0005026 | mesomelic/rhizomelic limb shortening | |
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HP:0005280 | Depressed nasal root and bridge | |
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HP:0005736 | Hypoplastic tibia | |
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HP:0005856 | Ulnar dislocation of radial heads | |
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HP:0005930 | Abnormality of the epiphyses | |
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HP:0005974 | Ketoacidosis, episodic | |
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HP:0006248 | Limited wrist movement | "An abnormal limitation of the mobility of the wrist." [HPO:curators] |
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HP:0006443 | Patellar aplasia | "Absence of the patella." [HPO:curators] |
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HP:0006459 | Dorsal subluxation of ulna | "Partial dislocation of the ulna in the dorsal direction." [HPO:curators] |
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HP:0006487 | Bowing of the long bones | |
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HP:0006492 | Aplasia/Hypoplasia of the fibula | "Absence or underdevelopment of the fibula." [HPO:curators] |
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HP:0008873 | Short stature, disproportionate short-limbed | "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators] |
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HP:0009465 | Ulnar deviation of fingers | |
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HP:0009816 | Hypoplasia involving bones of the lower limbs | |
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HP:0009821 | Hypoplasia involving forearm bones | |
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HP:0010579 | Cone-shaped epiphyses | |
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HP:0010624 | Aplastic/hypoplastic toenails | |
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HP:0100777 | Exostoses | |
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HP:0100864 | Hypoplasia of the femoral neck | |
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