| 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] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0000280 | Coarse facial features | |
Show
|
| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000771 | Gynecomastia | |
Show
|
| HP:0000845 | Acromegaly | "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [HPO:curators] |
Show
|
| HP:0000890 | Long clavicles | |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
Show
|
| HP:0000972 | Palmoplantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson] |
Show
|
| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
Show
|
| HP:0000976 | Eczematoid dermatitis | |
Show
|
| HP:0000982 | Palmoplantar keratoderma | |
Show
|
| HP:0001051 | Seborrheic dermatitis | "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] |
Show
|
| HP:0001061 | Acne | |
Show
|
| HP:0001070 | Mottled pigmentation | |
Show
|
| HP:0001217 | Clubbing | "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] |
Show
|
| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
Show
|
| HP:0001369 | Arthritis | |
Show
|
| HP:0001376 | Decreased mobility of joints | |
Show
|
| HP:0001386 | Joint swelling | |
Show
|
| 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] |
Show
|
| HP:0001519 | Dolichostenomelia | "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [HPO:curators] |
Show
|
| HP:0001582 | Loose, redundant skin | |
Show
|
| HP:0001643 | Patent ductus arteriosus | |
Show
|
| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002239 | Gastrointestinal hemorrhage | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002645 | Wormian bones | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002653 | Bone pain | |
Show
|
| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
Show
|
| HP:0002754 | Osteomyelitis | |
Show
|
| HP:0002758 | Osteoarthritis | |
Show
|
| HP:0002797 | Osteolysis | |
Show
|
| HP:0002815 | Abnormality of the knees | "An abnormality of the knee joint or surrounding structures." [HPO:curators] |
Show
|
| HP:0002829 | Arthralgia | |
Show
|
| HP:0002970 | Genu varum | |
Show
|
| HP:0002992 | Abnormality of the tibia | "Abnormality of the tibia (shinbone)." [HPO:curators] |
Show
|
| HP:0003040 | Arthropathy | |
Show
|
| HP:0003103 | Abnormality of cortical bone | "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] |
Show
|
| HP:0003577 | Onset at birth | |
Show
|
| HP:0004097 | Deviated fingers | "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [HPO:curators] |
Show
|
| HP:0004398 | Peptic ulcer | |
Show
|
| HP:0005561 | Generalized abnormality of the bone marrow | |
Show
|
| HP:0005930 | Abnormality of the epiphyses | |
Show
|
| HP:0008069 | Neoplasia of the skin | |
Show
|
| HP:0009771 | Osteolytic defects of the phalanges of the hand | "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators] |
Show
|
| HP:0010541 | Cutis gyrata of scalp | "The presence of convoluted folds and furrows formed from thickened skin of the scalp resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." [HPO:curators] |
Show
|
| HP:0010720 | Abnormal hair growth pattern | "An abnormality of the distribution of hair growth." [HPO:probinson] |
Show
|
| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
Show
|
| HP:0010829 | Loss of temperature sensation | |
Show
|
| HP:0010885 | Aseptic necrosis | "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] |
Show
|
| HP:0011362 | Abnormal hair quantity | "An abnormal amount of hair." [DDD:cmoss] |
Show
|
| HP:0100021 | Cerebral paralysis | "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken] |
Show
|
| HP:0100526 | Neoplasia of the lungs | |
Show
|
| HP:0100760 | Clubbing of toes | "Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken] |
Show
|
| HP:0200055 | Small hands | |
Show
|
