| 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:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
Show
|
| HP:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
Show
|
| HP:0000219 | Thin upper lip | |
Show
|
| 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] |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000368 | Low-set, posteriorly rotated ears | |
Show
|
| HP:0000405 | Hearing loss, conductive | |
Show
|
| HP:0000411 | Protruding ears | |
Show
|
| HP:0000414 | Bulbous nose | |
Show
|
| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000574 | Thick eyebrows | |
Show
|
| HP:0000896 | Rib exostoses | |
Show
|
| HP:0000918 | Scapular exostoses | |
Show
|
| HP:0000924 | Abnormality of the musculoskeletal system | "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] |
Show
|
| HP:0000944 | Abnormality of the metaphyses | |
Show
|
| HP:0001156 | Brachydactyly | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| 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] |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001373 | Joint dislocation | "Displacement or malalignment of joints." [HPO:curators] |
Show
|
| HP:0001385 | Hip dysplasia | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001582 | Loose, redundant skin | |
Show
|
| HP:0001697 | Abnormality of the pericardium | |
Show
|
| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
Show
|
| HP:0001883 | Talipes | |
Show
|
| HP:0002002 | Deep philtrum | |
Show
|
| HP:0002119 | Ventriculomegaly | |
Show
|
| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
Show
|
| HP:0002318 | Cervical myelopathy | |
Show
|
| HP:0002617 | Aneurysm | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002653 | Bone pain | |
Show
|
| 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] |
Show
|
| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
Show
|
| HP:0002758 | Osteoarthritis | |
Show
|
| HP:0002762 | Multiple exostoses | |
Show
|
| HP:0002797 | Osteolysis | |
Show
|
| HP:0002812 | Coxa vara | |
Show
|
| HP:0002823 | Abnormality of the femur | "Abnormality of the femur (i.e., the thigh bone)." [HPO:curators] |
Show
|
| HP:0002857 | Genu valgum | |
Show
|
| HP:0002983 | Micromelia | |
Show
|
| HP:0002986 | Radial bowing | |
Show
|
| HP:0002992 | Abnormality of the tibia | "Abnormality of the tibia (shinbone)." [HPO:curators] |
Show
|
| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
Show
|
| HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
Show
|
| HP:0003063 | Abnormality of the humerus | "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] |
Show
|
| HP:0003067 | Madelung deformity | |
Show
|
| HP:0003068 | Madelung-like forearm deformities | |
Show
|
| HP:0003105 | Protuberances at ends of long bones | |
Show
|
| HP:0003276 | Pelvic exostoses | |
Show
|
| HP:0003406 | Peripheral nerve compression | |
Show
|
| HP:0003621 | Juvenile onset | |
Show
|
| 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] |
Show
|
| HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
Show
|
| HP:0005039 | multiple exostoses of long tubular bones | |
Show
|
| HP:0005692 | Joint hyperflexibility | |
Show
|
| HP:0005743 | Abnormal femoral head with degenerative changes | |
Show
|
| HP:0006765 | Increased risk of chondrosarcoma | |
Show
|
| HP:0006824 | Cranial nerve paralysis | |
Show
|
| HP:0007256 | Mild pyramidal signs | |
Show
|
| HP:0007598 | Bilateral single palmar creases | |
Show
|
| HP:0009118 | Aplasia/Hypoplasia of the mandible | "Absence or underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0009928 | Ala nasi, thick | "Increase in bulk of the ala nasi." [pmid:19152422] |
Show
|
| HP:0010049 | Hypoplastic/short metacarpal bones | |
Show
|
| 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] |
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:0011069 | Increased number of teeth | "The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth." [HPO:ibailleulforestier] |
Show
|
| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
Show
|
| HP:0100240 | Synostosis of joints | |
Show
|
