| HPO |
HP:0007565 |
Multiple cafe-au-lait spots |
"The presence of six or more cafe-au-lait spots." [DDD:cmoss] |
— |
HP:0000957 |
| HPO |
HP:0006824 |
Cranial nerve paralysis |
— |
— |
HP:0031910 |
| HPO |
HP:0000135 |
Hypogonadism |
"A decreased functionality of the gonad." [HPO:curators] |
Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. |
HP:0000080, HP:0008373 |
| HPO |
HP:0001631 |
Atrial septal defect |
"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [DDD:dbrown, HPO:probinson] |
— |
HP:0005120, HP:0011994 |
| HPO |
HP:0000505 |
Visual impairment |
"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [DDD:gblack] |
— |
HP:0000504 |
| HPO |
HP:0001646 |
Abnormal aortic valve morphology |
"Any abnormality of the aortic valve." [HPO:curators] |
— |
HP:0001654 |
| HPO |
HP:0001053 |
Hypopigmented skin patches |
— |
— |
HP:0001010, HP:0011355 |
| HPO |
HP:0001249 |
Intellectual disability |
"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] |
This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). |
HP:0011446, HP:0012759 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| 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:0000083 |
Renal insufficiency |
"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [HPO:probinson] |
— |
HP:0012211 |
| HPO |
HP:0001770 |
Toe syndactyly |
"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators] |
— |
HP:0001159, HP:0001780 |
| HPO |
HP:0000252 |
Microcephaly |
"Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] |
Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition |
HP:0007364, HP:0040195 |
| HPO |
HP:0008572 |
External ear malformation |
"A malformation of the auricle of the ear." [HPO:probinson] |
— |
HP:0000356 |
| HPO |
HP:0100587 |
Abnormal preputium morphology |
"An abnormality of the retractable fold of skin that covers the tip of the penis." [] |
— |
HP:0000036 |
| HPO |
HP:0000813 |
Bicornuate uterus |
"The presence of a bicornuate uterus." [HPO:probinson] |
Uterus with two horn-shaped branches. |
HP:0031105 |
| HPO |
HP:0000582 |
Upslanted palpebral fissure |
"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [PMID:19125427] |
— |
HP:0200006 |
| HPO |
HP:0000072 |
Hydroureter |
"The distention of the ureter with urine." [HPO:probinson, PMID:33085364] |
— |
HP:0025633 |
| HPO |
HP:0100760 |
Clubbing of toes |
"Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken] |
— |
HP:0001217, HP:0010161 |
| 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:0000639 |
Nystagmus |
"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
— |
HP:0012547 |
| HPO |
HP:0001347 |
Hyperreflexia |
"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [HPO:probinson] |
Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. |
HP:0031826 |
| 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:0006101 |
Finger syndactyly |
"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators] |
— |
HP:0001159 |
| HPO |
HP:0000316 |
Hypertelorism |
"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427] |
— |
HP:0100886 |