| HPO |
HP:0012745 |
Short palpebral fissure |
"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [PMID:19125427] |
— |
HP:0200007 |
| HPO |
HP:0006610 |
Wide intermamillary distance |
"A larger than usual distance between the left and right nipple." [HPO:probinson] |
— |
HP:0040157 |
| 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:0002188 |
Delayed CNS myelination |
"Delayed myelination in the central nervous system." [HPO:probinson] |
A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. |
HP:0011400, HP:0012448 |
| HPO |
HP:0003320 |
C1-C2 subluxation |
"A partial dislocation of the atlantoaxial joints." [HPO:curators] |
A subluxation affecting the intervertebral joint between the first and second cervical vertebrae. |
HP:0003308, HP:0008440 |
| HPO |
HP:0000966 |
Hypohidrosis |
"Abnormally diminished capacity to sweat." [HPO:probinson] |
— |
HP:0007550 |
| 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:0011344 |
Severe global developmental delay |
"A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
— |
HP:0001263 |
| HPO |
HP:0002024 |
Malabsorption |
"Impaired ability to absorb one or more nutrients from the intestine." [HPO:probinson] |
— |
HP:0002242 |
| HPO |
HP:0000028 |
Cryptorchidism |
"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [HPO:probinson, PMID:23650202] |
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. |
HP:0000035 |
| HPO |
HP:0004322 |
Short stature |
"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] |
— |
HP:0000002, HP:0001510 |
| HPO |
HP:0010627 |
Anterior pituitary hypoplasia |
"Underdevelopment of the anterior pituitary gland." [DDD:spark, HPO:probinson] |
— |
HP:0010625 |
| HPO |
HP:0007328 |
Impaired pain sensation |
"Reduced ability to perceive painful stimuli." [HPO:probinson] |
— |
HP:0010832 |
| HPO |
HP:0033078 |
Decreased circulating free T4 level |
"A reduced concentration of free thyroxine (fT4) in the blood circulation." [] |
— |
HP:0033076 |
| HPO |
HP:0000322 |
Short philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0001522 |
Death in infancy |
"Death within the first 24 months of life." [HPO:probinson] |
— |
HP:0011420 |
| HPO |
HP:0031861 |
Decreased heart rate variability |
"Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle." [ORCID:0000-0001-5356-4174, PMID:8598068] |
— |
HP:0031860 |
| 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:0000522 |
Alacrima |
"Absence of tear secretion." [HPO:probinson] |
Alacrima is generally a congenital deficiency. |
HP:0000633 |
| HPO |
HP:0001319 |
Neonatal hypotonia |
"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0000871 |
Panhypopituitarism |
"A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [HPO:probinson, PMID:12466332] |
— |
HP:0000830 |
| HPO |
HP:0002353 |
EEG abnormality |
"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
— |
HP:0030178 |
| HPO |
HP:0000369 |
Low-set ears |
"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, PMID:19152421] |
— |
HP:0000357 |
| HPO |
HP:0003196 |
Short nose |
"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, PMID:19152422] |
Note: a small nose has both decreased height and a decreased width. These should be coded separately. |
HP:0005105 |
| HPO |
HP:0011421 |
Death in adolescence |
"Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years)." [HPO:probinson] |
— |
HP:0011420 |