| 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:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
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:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
Show
|
| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
Show
|
| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
Show
|
| HP:0000365 | Hearing loss | |
Show
|
| HP:0000405 | Hearing loss, conductive | |
Show
|
| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| 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] |
Show
|
| HP:0000523 | Subcapsular cataracts | |
Show
|
| HP:0000541 | Detached retina | |
Show
|
| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
|
| HP:0000618 | Blindness | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000648 | Optic atrophy | |
Show
|
| HP:0000667 | Phthisis bulbi | "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [HPO:curators] |
Show
|
| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
Show
|
| HP:0000772 | Abnormality of the ribs | |
Show
|
| HP:0000889 | Abnormality of the clavicles | "Any abnormality of the clavicles (collar bones)." [HPO:curators] |
Show
|
| HP:0000925 | Abnormality of the vertebral column | "Any abnormality of the spine (vertebral column)." [HPO:curators] |
Show
|
| HP:0000926 | Platyspondyly | |
Show
|
| HP:0000935 | Thickened cortex of long bones | "Abnormal thickening of the cortex of long bones." [HPO:curators] |
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:0001089 | Iris atrophy | |
Show
|
| HP:0001103 | Abnormality of the macula | |
Show
|
| HP:0001136 | Retinal arteriolar tortuosity | |
Show
|
| HP:0001147 | Retinal exudates | |
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:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
Show
|
| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
Show
|
| HP:0001425 | Heterogeneous | |
Show
|
| HP:0001489 | Vitreous detachment | |
Show
|
| HP:0001493 | Falciform retinal folds | |
Show
|
| HP:0001507 | Growth abnormality | |
Show
|
| HP:0001518 | Low birth weight | |
Show
|
| HP:0001552 | Barrel-shaped chest | |
Show
|
| HP:0001622 | Premature birth | |
Show
|
| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
Show
|
| HP:0001732 | Abnormality of the pancreas | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002027 | Abdominal pain | |
Show
|
| HP:0002093 | Respiratory insufficiency | |
Show
|
| HP:0002239 | Gastrointestinal hemorrhage | |
Show
|
| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
Show
|
| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
Show
|
| HP:0002516 | Increased intracranial pressure | |
Show
|
| HP:0002617 | Aneurysm | |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
Show
|
| HP:0002751 | Kyphoscoliosis | |
Show
|
| 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] |
Show
|
| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
Show
|
| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
Show
|
| HP:0003312 | Abnormal form of the vertebral bodies | |
Show
|
| HP:0003418 | Back pain | |
Show
|
| HP:0003573 | Increased total bilirubin | |
Show
|
| HP:0003593 | Early onset | |
Show
|
| HP:0003677 | Slow progression | |
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:0004425 | Flattened forehead | "An abnormally flat form of the forehead." [HPO:curators] |
Show
|
| HP:0004437 | Cranial hyperostosis | "Excessive growth of the cranial bones." [HPO:curators] |
Show
|
| HP:0004493 | Craniofacial hyperostosis | "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] |
Show
|
| HP:0005019 | Diaphyseal thickening | |
Show
|
| HP:0005562 | Multiple renal cysts | |
Show
|
| HP:0005789 | Osteosclerosis, diffuse symmetrical | |
Show
|
| HP:0006174 | Metacarpal diaphyseal endosteal sclerosis | |
Show
|
| HP:0006557 | Polycystic liver disease | |
Show
|
| HP:0007663 | Decreased central vision | |
Show
|
| HP:0007685 | Peripheral retinal avascularization | |
Show
|
| HP:0007773 | Vitreoretinal abnormalities | |
Show
|
| HP:0007811 | Horizontal pendular nystagmus | "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity." [HPO:curators] |
Show
|
| HP:0007902 | Vitreous hemorrhage | |
Show
|
| HP:0007917 | Tractional retinal detachment | |
Show
|
| HP:0008037 | Absent anterior eye chamber | |
Show
|
| HP:0008114 | Metatarsal diaphyseal endosteal sclerosis | "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones." [HPO:curators] |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0009733 | Glioma | "A type of brain or spinal tumor originating from a glial cell. Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas." [HPO:curators] |
Show
|
| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0011002 | Osteopetrosis | |
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:0012802 | Broad jaw | "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436] |
Show
|
| HP:0030490 | Exudative vitreoretinopathy | |
Show
|
| HP:0030666 | Retinal neovascularization | "In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment." [PMID:23329331] |
Show
|
| HP:0100789 | Torus palatinus | "A bony protrusion present on the midline of the hard palate." [HPO:sdoelken] |
Show
|
| HP:0100861 | Vertebral body sclerosis | "Increase in bone density of the vertebral body." [HPO:probinson] |
Show
|
| HP:0100923 | Clavicular sclerosis | "An increase in bone density within the clavicula." [HPO:probinson] |
Show
|
