| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| HP:0000015 | Bladder diverticula | "The presence of one or more diverticula (sac or pouch) in the wall of the urinary bladder." [HPO:curators] |
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| HP:0000023 | Inguinal hernia | |
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| HP:0000163 | Abnormality of the oral cavity | "Abnormality of the opening or hollow part of the mouth." [HPO:curators] |
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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:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000324 | Facial asymmetry | |
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| HP:0000325 | Triangular facies | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000362 | Otosclerosis | |
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| HP:0000365 | Hearing loss | |
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| HP:0000394 | Lop ears | "The term lop ear refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears." [HPO:curators] |
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| HP:0000444 | Beaked nose | |
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| HP:0000520 | Proptosis | |
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| HP:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000592 | Blue sclerae | |
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| HP:0000703 | Dentinogenesis imperfecta | |
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| HP:0000707 | Neurological abnormality | "An abnormality of the central or peripheral nervous system." [HPO:curators] |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [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:0000776 | Diaphragmatic hernia | "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators] |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000923 | Beaded ribs | "The presence of a row of beadlike prominences at the junction of a rib and its cartilag." [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:0000963 | Thin skin | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0000977 | Soft skin | |
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| HP:0000978 | Ecchymoses | |
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| HP:0000993 | Molluscoid pseudotumors | |
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| HP:0001030 | Fragile skin | |
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| HP:0001058 | Poor wound healing | |
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| HP:0001072 | Thickened skin | |
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| HP:0001073 | Cigarette-paper scars | |
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| HP:0001075 | Atrophic scars | |
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| HP:0001083 | Ectopia lentis | |
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| HP:0001187 | Hyperextensibility of the finger joints | "The ability of the finger joints to move beyond their normal range of motion." [HPO:curators] |
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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:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
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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:0001388 | Joint laxity | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001507 | Growth abnormality | |
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| HP:0001518 | Low birth weight | |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001622 | Premature birth | |
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| HP:0001623 | breech presentation | |
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| HP:0001634 | Mitral valve prolapse | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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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:0001790 | Nonimmune hydrops fetalis | |
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| HP:0001822 | Hallux valgus | "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
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| HP:0001945 | Fever | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002010 | Narrow maxilla | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002194 | Delayed gross motor development | |
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| HP:0002586 | Peritonitis | |
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| HP:0002616 | Aortic root dilatation | |
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| HP:0002619 | Varicose veins | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0002645 | Wormian bones | |
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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:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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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:0002691 | Platybasia | |
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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:0002758 | Osteoarthritis | |
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| HP:0002808 | Kyphosis | |
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| HP:0002816 | Genu recurvatum | |
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| HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0003023 | Bowing of limbs due to multiple fractures | "Curvature of the shafts of the long bones due to multiple fractures." [HPO:curators] |
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| HP:0003088 | Premature osteoarthritis | |
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| HP:0003100 | Thin long bones | |
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| HP:0003179 | Protrusio acetabuli | "Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the heep joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head." [HPO:curators] |
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| HP:0003321 | Biconcave flattened vertebrae | |
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| HP:0003502 | Mild short stature | "A mild degree of short stature." [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:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0004490 | Calvarial hyperostosis | "Excessive growth of the calvarial bone." [HPO:curators] |
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| HP:0004586 | Biconcave vertebral bodies | |
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| HP:0004942 | Aortic aneurysms | |
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| HP:0005005 | femoral bowing present at birth, straightening with time | |
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| HP:0005100 | premature birth following premature rupture of fetal membranes | |
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| HP:0005222 | Bowel diverticula | |
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| HP:0005474 | Poorly ossified calvaria | "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [HPO:curators] |
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| HP:0005622 | Widened long bones with translucent metaphyseal flaring | |
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| HP:0005623 | Absent ossification of skull vault | "Absent ossification of the calvaria (vault of the skull)." [HPO:curators] |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0005731 | Cortical irregularity | "An abnormal irregularity of cortical bone." [HPO:curators] |
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| HP:0005758 | Foramen magnum lesion | |
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| HP:0005791 | Cortical thickening of long bone diaphyses | "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators] |
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| HP:0005855 | Multiple prenatal fractures | "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [HPO:curators] |
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| HP:0005897 | Severe osteoporosis | "Severe degree of osteoporosis." [HPO:curators] |
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| HP:0006316 | Irregularly spaced teeth | |
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| HP:0006367 | Broad crumpled long bones | |
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| HP:0006465 | Periosteal thickening of long tubular bones | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0008780 | Congenital bilateral hip dislocation | |
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| HP:0008872 | Feeding problems in infancy | |
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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:0008921 | Neonatal short-limbed dwarfism | |
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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:0010444 | Pulmonary insufficiency | "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators] |
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| HP:0010485 | Hyperextensibility at elbow | "The ability of the elbow joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0010500 | Hyperextensibility of the knee | "The ability of the knee joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0010702 | Increased immunoglobulin level | "An abnormally increased level of immunoglobulin in blood." [HPO:probinson] |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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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:0025014 | Subcutaneous spheroids | "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [] {comment="PMID:20847697"} |
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| HP:0100244 | Fibrosarcoma | "A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells." [HPO:sdoelken] |
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| HP:0100541 | Femoral hernia | "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken] |
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| HP:0100658 | Cellulitis | |
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| HP:0100963 | Hyperaesthesia | |
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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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