| HPO |
HP:0000978 |
Bruising susceptibility |
"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson] |
An ecchymosis is defined as being larger than 1 cm in size. |
HP:0001933 |
| HPO |
HP:0001562 |
Oligohydramnios |
"Diminished amniotic fluid volume in pregnancy." [HPO:probinson] |
Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. |
HP:0001560 |
| 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:0001252 |
Hypotonia |
"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [HPO:probinson, PMID:21418198] |
Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. |
HP:0003808 |
| HPO |
HP:0000337 |
Broad forehead |
"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [PMID:19125436] |
Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. |
HP:0000290 |
| HPO |
HP:0001083 |
Ectopia lentis |
"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson] |
— |
HP:0000517 |
| HPO |
HP:0003758 |
Reduced subcutaneous adipose tissue |
"A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness." [] |
— |
HP:0001001, HP:0040063 |
| HPO |
HP:0002705 |
High, narrow palate |
"The presence of a high and narrow palate." [HPO:curators] |
— |
HP:0000189, HP:0000218 |
| HPO |
HP:0000098 |
Tall stature |
"A height above that which is expected according to age and gender norms." [HPO:probinson] |
— |
HP:0000002 |
| HPO |
HP:0002616 |
Aortic root aneurysm |
"An abnormal localized widening (dilatation) of the aortic root." [] |
— |
HP:0012727 |
| HPO |
HP:0011003 |
High myopia |
"A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] |
— |
HP:0000545 |
| HPO |
HP:0000278 |
Retrognathia |
"An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] |
— |
HP:0000277 |
| HPO |
HP:0001097 |
Keratoconjunctivitis sicca |
"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:probinson] |
— |
HP:0001096 |
| HPO |
HP:0008081 |
Pes valgus |
"An outward deviation of the foot at the talocalcaneal or subtalar joint." [] |
Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body. |
HP:0001760 |
| HPO |
HP:0008872 |
Feeding difficulties in infancy |
"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [HPO:probinson] |
— |
HP:0011968 |
| HPO |
HP:0000995 |
Melanocytic nevus |
"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger." [HPO:probinson] |
Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. |
HP:0001000, HP:0003764 |
| HPO |
HP:0100960 |
Asymmetric ventricles |
— |
— |
HP:0002118 |
| HPO |
HP:0007485 |
Absence of subcutaneous fat |
"Lack of subcutaneous adipose tissue." [HPO:probinson] |
— |
HP:0008887 |
| HPO |
HP:0003596 |
Middle age onset |
"A type of adult onset with onset of symptoms at the age of 40 to 60 years." [HPO:probinson] |
Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. |
HP:0003581 |
| HPO |
HP:0003621 |
Juvenile onset |
"Onset of signs or symptoms of disease between the age of 5 and 15 years." [HPO:probinson] |
— |
HP:0410280 |
| HPO |
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] |
— |
HP:0000005 |
| HPO |
HP:0011462 |
Young adult onset |
"Onset of disease at the age of between 16 and 40 years." [DDD:hfirth] |
— |
HP:0003581 |
| HPO |
HP:0001083 |
Ectopia lentis |
"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson] |
— |
HP:0000517 |
| HPO |
HP:0001166 |
Arachnodactyly |
"Abnormally long and slender fingers (\"spider fingers\")." [HPO:probinson] |
— |
HP:0001238, HP:0100807 |
| HPO |
HP:0001763 |
Pes planus |
"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [HPO:probinson, PMID:19125433] |
'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal)) |
HP:0001760 |