| 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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000121 | Nephrocalcinosis | |
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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:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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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:0000365 | Hearing loss | |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000452 | Choanal stenosis | "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000453 | Choanal atresia | "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000506 | Telecanthus | "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000520 | Proptosis | |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000692 | Misalignment of teeth | |
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| HP:0000695 | Neonatal teeth | |
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| HP:0000773 | Short ribs | |
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| HP:0000774 | Narrow chest | |
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| HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| HP:0000829 | Hypoparathyroidism | |
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| HP:0000916 | Broad clavicles | "Increased breadth of the clavicles." [HPO:curators] |
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| HP:0000926 | Platyspondyly | |
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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:0000944 | Abnormality of the metaphyses | |
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| HP:0001169 | Broad hands | |
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| HP:0001211 | Abnormality of the fingertips | |
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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:0001482 | Subcutaneous nodules | |
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| HP:0001538 | Protuberant abdomen | "A thrusting or bulging out of the abdomen." [HPO:curators] |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001622 | Premature birth | |
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| HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
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| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001831 | Brachydactyly (feet) | |
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| HP:0001903 | Anemia | |
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| HP:0001928 | Abnormality of coagulation | |
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| HP:0002089 | Pulmonary hypoplasia | |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002515 | Waddling gait | |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002653 | Bone pain | |
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| HP:0002656 | Epiphyseal dysplasia | |
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| HP:0002663 | Late ossifying epiphyses | |
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| HP:0002737 | Thick skull base | |
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| HP:0002753 | Thin bony cortex | "Abnormal thinning of the cortical region of bones." [HPO:curators] |
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| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| HP:0002797 | Osteolysis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002967 | Cubitus valgus | |
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| HP:0002983 | Micromelia | |
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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:0003021 | Metaphyseal cupping | "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003026 | Short long bones | |
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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:0003038 | Fibular hypoplasia | "Underdevelopment of the fibula." [HPO:curators] |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003170 | Abnormality of the acetabulum | "An abnormality of the acetabulum, which together with the head of the femur forms the hip joint." [HPO:curators] |
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| HP:0003177 | Square iliac bones | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003273 | Hip contractures | |
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| HP:0003275 | Narrow pelvis | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003826 | Stillborn or neonatal death | |
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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:0004233 | Advanced maturation/advanced ossification of carpal bones | |
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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:0004676 | prominent supraorbital arches in adult | |
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| HP:0004936 | Venous thrombosis | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated 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:0005701 | Multiple enchondromatosis | |
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| HP:0005716 | Lethal skeletal dysplasia | |
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| HP:0005789 | Osteosclerosis, diffuse symmetrical | |
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| HP:0005871 | Metaphyseal chondrodysplasia | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006335 | Delayed loss of deciduous teeth | |
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| HP:0006352 | Failure of secondary teeth eruption | |
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| HP:0006376 | Limited elbow flexion | |
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| HP:0006380 | Knee flexion deformities | |
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| HP:0006402 | Distal shortening of limbs | |
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| HP:0006487 | Bowing of the long bones | |
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| HP:0006660 | Aplastic clavicles | |
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| HP:0006765 | Increased risk of chondrosarcoma | |
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| HP:0008108 | Advanced tarsal ossification | |
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| HP:0008754 | Laryngeal calcifications | "Calcification (abnormal deposits of calcium) in the laryngeal tissues." [HPO:curators] |
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| HP:0008800 | Limited hip movement | |
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| HP:0008808 | High, narrow iliac wings | "A high and narrow appearance of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:curators] |
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| HP:0008905 | Rhizomelic short stature | |
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| HP:0008921 | Neonatal short-limbed dwarfism | |
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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:0010305 | Absence of the sacrum | "Absence (aplasia) of the sacrum." [HPO:curators] |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0010808 | Protruding tongue | "Tongue extending beyond the alveolar ridges or teeth at rest." [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:0100240 | Synostosis of joints | |
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| HP:0100671 | Abnormality of bone trabeculation | |
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| HP:0100759 | Clubbing of fingers | "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken] |
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| HP:0100761 | Visceral angiomatosis | |
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| HP:0100764 | Lymphangioma | "Malformation of the lymphatic system." [HPO:sdoelken] |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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