| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
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| HP:0000189 | Narrow palate | "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] |
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| 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:0000219 | Thin upper lip | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000319 | Flat philtrum | |
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| HP:0000325 | Triangular facies | |
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| HP:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| HP:0000400 | Large ears | |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000411 | Protruding ears | |
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| HP:0000414 | Bulbous nose | |
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| HP:0000430 | Hypoplastic nasal alae | "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422] |
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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:0000447 | Pear-shaped nose | |
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| HP:0000535 | Sparse eyebrows | |
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| HP:0000574 | Thick eyebrows | |
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| HP:0000653 | Sparse eyelashes | "Decreased density/number of eyelashes." [pmid:19125427] |
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| HP:0000670 | Carious teeth | |
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| HP:0000678 | Dental overcrowding | |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| HP:0000691 | Microdontia | |
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| HP:0000707 | Neurological abnormality | "An abnormality of the central or peripheral nervous system." [HPO:curators] |
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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:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001249 | Mental retardation | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001582 | Loose, redundant skin | |
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| HP:0001598 | Koilonychia | |
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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:0001808 | Fragile nails | |
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| HP:0001816 | Thin nails | |
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| HP:0001820 | Leukonychia | |
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| HP:0001883 | Talipes | |
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| HP:0002002 | Deep philtrum | |
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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:0002205 | Recurrent respiratory infections | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002213 | Fine hair | |
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| HP:0002217 | Slow-growing hair | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002653 | Bone pain | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002758 | Osteoarthritis | |
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| HP:0002805 | Accelerated bone age after puberty | |
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| HP:0002829 | Arthralgia | |
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| HP:0002857 | Genu valgum | |
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| HP:0003279 | Coxa magna | |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003370 | Flat capital femoral epiphyses | |
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| HP:0003691 | Scapular winging | |
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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:0004279 | Hypoplastic hand | |
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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:0005039 | multiple exostoses of long tubular bones | |
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| HP:0005338 | Sparse lateral eyebrows | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005743 | Abnormal femoral head with degenerative changes | |
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| HP:0006253 | Swelling of proximal interphalangeal joints | |
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| HP:0007598 | Bilateral single palmar creases | |
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| HP:0008070 | Sparse hair | |
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| HP:0008947 | Infantile muscular hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] |
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| HP:0009118 | Aplasia/Hypoplasia of the mandible | "Absence or underdevelopment of the mandible." [HPO:curators] |
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| HP:0009381 | Hypoplastic/small fingers | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0009928 | Ala nasi, thick | "Increase in bulk of the ala nasi." [pmid:19152422] |
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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:0010252 | Ivory epiphyses of the distal phalanges of the hand | |
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| HP:0010259 | Cone-shaped epiphyses of the middle phalanges of the hand | |
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| HP:0010270 | Cone-shaped epiphyses of the proximal phalanges of the hand | |
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| HP:0010300 | Abnormally low-pitched voice | "An abnormally low-pitched voice." [HPO:curators] |
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| HP:0010579 | Cone-shaped epiphyses | |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0011069 | Increased number of teeth | "The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth." [HPO:ibailleulforestier] |
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| HP:0011341 | Long upper lip | "Increased width of the `upper lip` (FMA:59817)." [DDD:jhurst] |
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| HP:0011823 | Chin with horizontal crease | "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." [pmid:19125436] |
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| HP:0011910 | Shortening of all phalanges of fingers | "Abnormal reduction in length affecting all phalanges." [HPO:probinson] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0045074 | Thin eyebrow | "Decreased diameter of eyebrow hairs." [] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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