| 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:0000049 | Shawl scrotum | "A condition in which the upper scrotal skin rises over the base of the penis." [HPO:curators] |
Show
|
| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
Show
|
| 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] |
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: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:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000389 | Chronic otitis media | |
Show
|
| HP:0000411 | Protruding ears | |
Show
|
| HP:0000414 | Bulbous nose | |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000498 | Blepharitis | "Inflammation of the eyelids." [HPO:curators] |
Show
|
| HP:0000527 | Long eyelashes | "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427] |
Show
|
| HP:0000687 | Widely spaced teeth | |
Show
|
| HP:0000708 | Behavioural/Psychiatric Abnormality | |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0000960 | Sacral dimple | "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] |
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:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001376 | Decreased mobility of joints | |
Show
|
| HP:0001385 | Hip dysplasia | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
Show
|
| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
Show
|
| HP:0001643 | Patent ductus arteriosus | |
Show
|
| HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
Show
|
| HP:0001852 | Gap between first and second toes | "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators] |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002092 | Pulmonary hypertension | |
Show
|
| HP:0002094 | Dyspnea | |
Show
|
| HP:0002553 | Arched eyebrows | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002803 | Congenital contractures | |
Show
|
| HP:0002812 | Coxa vara | |
Show
|
| HP:0002999 | Dislocation of patella | "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:curators] |
Show
|
| HP:0003065 | Patellar hypoplasia | "Underdevelopment of the patella." [HPO:curators] |
Show
|
| HP:0003097 | Short femur | "An abnormal shortening of the thigh bones." [HPO:curators] |
Show
|
| HP:0003182 | Shallow acetabular fossae | |
Show
|
| HP:0003279 | Coxa magna | |
Show
|
| HP:0003370 | Flat capital femoral epiphyses | |
Show
|
| 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] |
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:0005280 | Depressed nasal root and bridge | |
Show
|
| HP:0005682 | Talocalcaneal synostosis | |
Show
|
| HP:0005930 | Abnormality of the epiphyses | |
Show
|
| HP:0006443 | Patellar aplasia | "Absence of the patella." [HPO:curators] |
Show
|
| HP:0006498 | Aplasia/Hypoplasia of the patella | "Absence or underdevelopment of the patella." [HPO:curators] |
Show
|
| HP:0007598 | Bilateral single palmar creases | |
Show
|
| HP:0008784 | Flat, wide capital femoral epiphyses | |
Show
|
| HP:0008801 | Lesser trochanter hypoplasia | |
Show
|
| HP:0010511 | Increased length of toes | "The presence of abnormally long toes." [HPO:curators] |
Show
|
| HP:0011342 | Mild global developmental delay | "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
Show
|
| HP:0011343 | Moderate global developmental delay | "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
Show
|
| HP:0011803 | Bifid nose | "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [pmid:19152422] |
Show
|
| HP:0100807 | Long fingers | "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433] |
Show
|
