| HPO |
HP:0001561 |
Polyhydramnios |
"The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson] |
Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. |
HP:0001560 |
| 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:0001563 |
Fetal polyuria |
"Abnormally increased production of urine by the fetus resulting in polyhydramnios." [HPO:probinson, PMID:21460147] |
The fetal urine production rate can be measured by ultrasonography. |
HP:0001560 |
| HPO |
HP:0001566 |
Widely-spaced maxillary central incisors |
"Increased distance between the maxillary central permanent incisor tooth." [HPO:ibailleulforestier] |
— |
HP:0006304 |
| HPO |
HP:0001571 |
Multiple impacted teeth |
"The presence of multiple impacted teeth." [HPO:ibailleulforestier] |
— |
HP:0011079 |
| HPO |
HP:0001572 |
Macrodontia |
"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [HPO:ibailleulforestier, PMID:19125428] |
The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. |
HP:0006482 |
| HPO |
HP:0001574 |
Abnormality of the integument |
"An abnormality of the integument, which consists of the skin and the superficial fascia." [HPO:probinson] |
Abnormality of skin, hair, or nails. |
HP:0000118 |
| HPO |
HP:0001575 |
obsolete Mood changes |
— |
— |
— |
| HPO |
HP:0001579 |
Primary hypercortisolism |
"Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol." [HPO:probinson] |
— |
HP:0003118 |
| HPO |
HP:0001580 |
Pigmented micronodular adrenocortical disease |
— |
— |
HP:0000849 |
| HPO |
HP:0001581 |
Recurrent skin infections |
"Infections of the skin that happen multiple times." [HPO:curators] |
— |
HP:0011123 |
| HPO |
HP:0001582 |
Redundant skin |
"Loose and sagging skin often associated with loss of skin elasticity." [HPO:probinson] |
— |
HP:0000973 |
| HPO |
HP:0001583 |
Rotary nystagmus |
"A form of nystagmus in which the eyeball makes rotary motions around the axis." [HPO:probinson] |
— |
HP:0000639 |
| HPO |
HP:0001586 |
Vesicovaginal fistula |
"The presence of a fistula connecting the urinary bladder to the vagina." [HPO:probinson] |
— |
HP:0004320, HP:0004321 |
| HPO |
HP:0001587 |
obsolete Primary ovarian failure |
— |
— |
— |
| HPO |
HP:0001591 |
Bell-shaped thorax |
"The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." [HPO:probinson] |
A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. |
HP:0001547 |
| HPO |
HP:0001592 |
Selective tooth agenesis |
"Agenesis specifically affecting one of the classes incisor, premolar, or molar." [HPO:ibailleulforestier] |
— |
HP:0009804 |
| HPO |
HP:0001593 |
Maxillary lateral incisor microdontia |
"Decreased size of the maxillary permanent incisor." [HPO:ibailleulforestier] |
— |
HP:0000691, HP:0011063 |
| HPO |
HP:0001595 |
Abnormal hair morphology |
"An abnormality of the hair." [HPO:probinson] |
— |
HP:0011138 |
| HPO |
HP:0001596 |
Alopecia |
"A noncongenital process of hair loss, which may progress to partial or complete baldness." [PMID:14676077] |
— |
HP:0011362 |
| HPO |
HP:0001597 |
Abnormality of the nail |
"Abnormality of the nail." [HPO:probinson] |
Abnormality of the fingernails and/or toenails. |
HP:0011138 |
| HPO |
HP:0001598 |
Concave nail |
"The natural longitudinal (posterodistal) convex arch is not present or is inverted." [PMID:19125433] |
Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. |
HP:0002164 |
| HPO |
HP:0001600 |
Abnormality of the larynx |
"An abnormality of the larynx." [HPO:probinson] |
— |
HP:0002087 |
| HPO |
HP:0001601 |
Laryngomalacia |
"Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [HPO:probinson] |
Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. |
HP:0025423 |
| HPO |
HP:0001602 |
Laryngeal stenosis |
"Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing." [HPO:probinson] |
— |
HP:0025423 |