| 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:0000162 | Glossoptosis | |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
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| HP:0000242 | Parietal bossing | "Parietal bossing is an unusual prominence in the parietal region." [HPO:curators] |
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| HP:0000246 | Sinusitis | |
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| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000322 | Short philtrum | |
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| HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [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:0000389 | Chronic otitis media | |
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| HP:0000444 | Beaked nose | |
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| HP:0000670 | Carious teeth | |
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| HP:0000680 | Delayed eruption of deciduous teeth | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000696 | Delayed eruption of secondary teeth | |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000882 | Hypoplastic scapulae | |
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| HP:0000891 | Cervical ribs | |
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| HP:0000894 | Short clavicles | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001172 | Abnormality of the thumb | |
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| HP:0001182 | Tapered fingers | |
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| HP:0001810 | Dystrophic toenails | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002643 | Neonatal respiratory distress | |
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| HP:0002645 | Wormian bones | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
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| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
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| HP:0002688 | Absent frontal sinuses | |
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| HP:0002689 | Absent paranasal sinuses | |
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| HP:0002700 | Large foramen magnum | "An abnormal increase in the size of the foramen magnum." [HPO:curators] |
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| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
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| HP:0002738 | Hypoplastic frontal sinuses | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002812 | Coxa vara | |
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| HP:0002857 | Genu valgum | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
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| HP:0003183 | Wide pubic symphysis | "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [HPO:curators] |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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| HP:0003302 | Spondylolisthesis | |
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| HP:0003304 | Spondylolysis | |
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| HP:0003396 | Syringomyelia | |
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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:0004220 | Hypoplastic/small middle phalanx of the 5th finger | "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) 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:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
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| HP:0004474 | Persistent open anterior fontanelle | "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [HPO:curators] |
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| HP:0005107 | Abnormality of the sacrum | |
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| HP:0005259 | Abnormal facility in opposing the shoulders | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005625 | Osteoporosis of vertebrae | "Osteoporosis affecting predominantly the vertebrae." [HPO:curators] |
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| HP:0005877 | Multiple small vertebral fractures | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006040 | Long second metacarpal | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0006480 | Premature loss of teeth | |
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| HP:0006660 | Aplastic clavicles | |
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| HP:0008391 | Mildly dystrophic fingernails | |
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| HP:0008788 | Delayed pubic bone ossification | |
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| HP:0008821 | Hypoplastic inferior ilia | |
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| HP:0008848 | Moderately short stature | "A moderate degree of short stature." [HPO:curators] |
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| HP:0009577 | Hypoplastic/small middle phalanx of the 2nd finger | "Hypoplastic/small middle phalanx of the 2nd (index) finger." [HPO:curators] |
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| HP:0010047 | Hypoplastic/short 5th metacarpal | |
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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:0010535 | Sleep apnea | "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] |
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| HP:0010669 | Hypoplasia of the zygomatic bone | "Underdevelopment of the `zygomatic bone` (FMA:52747)." [HPO:probinson] |
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| HP:0010751 | Chin dimple | "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436] |
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| HP:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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| HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
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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:0011219 | Short face | "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)." [pmid:19125436] |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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| HP:0100255 | Metaphyseal dysplasia | "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken] |
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| HP:0100864 | Hypoplasia of the femoral neck | |
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| HP:0200021 | Rounded shoulders | |
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