| HPO |
HP:0011003 |
High myopia |
"A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] |
— |
HP:0000545 |
| HPO |
HP:0001642 |
Pulmonic stenosis |
"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] |
Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. |
HP:0031654 |
| HPO |
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 criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453] |
Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. |
HP:0004349 |
| HPO |
HP:0000974 |
Hyperextensible skin |
"A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [HPO:sdoelken] |
Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. |
HP:0008067 |
| HPO |
HP:0000175 |
Cleft palate |
"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [HPO:probinson] |
Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. |
HP:0000202, HP:0100737 |
| HPO |
HP:0001634 |
Mitral valve prolapse |
"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] |
Mitral valve prolapse can be associated with mitral regurgitation. |
HP:0001633 |
| HPO |
HP:0001822 |
Hallux valgus |
"Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
— |
HP:0010051 |
| HPO |
HP:0001131 |
Corneal dystrophy |
"An abnormality of the cornea that is characterized by opacity of one or parts of the cornea." [HPO:probinson] |
— |
HP:0000481 |
| HPO |
HP:0001119 |
Keratoglobus |
"Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [PMID:19667340] |
— |
HP:0007700, HP:0100689, HP:0100692 |
| HPO |
HP:0000365 |
Hearing impairment |
"A decreased magnitude of the sensory perception of sound." [HPO:probinson] |
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. |
HP:0000364 |
| HPO |
HP:0000993 |
Molluscoid pseudotumors |
"Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [HPO:probinson] |
— |
HP:0011355 |
| HPO |
HP:0000987 |
Atypical scarring of skin |
"Atypically scarred skin ." [HPO:sdoelken] |
— |
HP:0011355, HP:0100699 |
| HPO |
HP:0100689 |
Decreased corneal thickness |
"A decreased anteroposterior thickness of the cornea." [HPO:gblack] |
— |
HP:0011486 |
| HPO |
HP:0000592 |
Blue sclerae |
"An abnormal bluish coloration of the sclera." [HPO:probinson] |
— |
HP:0000591 |
| HPO |
HP:0003302 |
Spondylolisthesis |
"Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [HPO:probinson, PMID:20411054] |
— |
HP:0000925 |
| HPO |
HP:0001519 |
Disproportionate tall stature |
"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." [DDD:hfirth, HPO:probinson] |
— |
HP:0000098 |
| HPO |
HP:0007517 |
Palmoplantar cutis laxa |
"Loose, wrinkled skin of hands and feet." [HPO:probinson] |
— |
HP:0000973, HP:0007605, HP:0100872 |
| HPO |
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0000563 |
Keratoconus |
"A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex." [HPO:probinson, PMID:7767020] |
Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. |
HP:0100689, HP:0100692 |
| HPO |
HP:0000286 |
Epicanthus |
"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:probinson] |
In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. |
HP:0000492 |
| HPO |
HP:0000572 |
Visual loss |
"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [HPO:sdoelken] |
— |
HP:0000505 |
| HPO |
HP:0001388 |
Joint laxity |
"Lack of stability of a joint." [HPO:probinson] |
Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. |
HP:0011729 |
| HPO |
HP:0001634 |
Mitral valve prolapse |
"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] |
Mitral valve prolapse can be associated with mitral regurgitation. |
HP:0001633 |
| HPO |
HP:0002297 |
Red hair |
— |
— |
HP:0009887 |
| HPO |
HP:0000545 |
Myopia |
"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] |
— |
HP:0000539 |