| HPO |
HP:0000821 |
Hypothyroidism |
"Deficiency of thyroid hormone." [HPO:probinson] |
— |
HP:0002926 |
| HPO |
HP:0000347 |
Micrognathia |
"Developmental hypoplasia of the mandible." [HPO:probinson] |
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. |
HP:0009118 |
| HPO |
HP:0001539 |
Omphalocele |
"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [HPO:probinson] |
— |
HP:0004299 |
| HPO |
HP:0002025 |
Anal stenosis |
"Abnormal narrowing of the anal opening." [HPO:probinson] |
— |
HP:0004378 |
| HPO |
HP:0000324 |
Facial asymmetry |
"An abnormal difference between the left and right sides of the face." [HPO:probinson] |
— |
HP:0001999 |
| 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:0011382 |
Hypoplasia of the semicircular canal |
"Underdevelopment of the semicircular canal." [DDD:dfitzpatrick] |
— |
HP:0011380 |
| HPO |
HP:0002410 |
Aqueductal stenosis |
"Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [HPO:curators] |
— |
HP:0002118 |
| HPO |
HP:0011611 |
Interrupted aortic arch |
"Non-continuity of the arch of aorta with an atretic point or absent segment." [DDD:dbrown] |
— |
HP:0012303 |
| HPO |
HP:0002937 |
Hemivertebrae |
"Absence of one half of the vertebral body." [HPO:probinson] |
Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. |
HP:0003312, HP:0003422 |
| HPO |
HP:0007018 |
Attention deficit hyperactivity disorder |
"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
— |
HP:0000736, HP:0000752 |
| HPO |
HP:0000486 |
Strabismus |
"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] |
— |
HP:0000549 |
| HPO |
HP:0000648 |
Optic atrophy |
"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson] |
The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. |
HP:0012795 |
| HPO |
HP:0002093 |
Respiratory insufficiency |
— |
— |
HP:0002795 |
| HPO |
HP:0010751 |
Dimple chin |
"A persistent midline depression of the skin over the fat pad of the chin." [PMID:19125436] |
— |
HP:0000306 |
| 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: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:0001671 |
Abnormal cardiac septum morphology |
"An anomaly of the intra-atrial or intraventricular septum." [HPO:probinson] |
— |
HP:0001627 |
| HPO |
HP:0000044 |
Hypogonadotropic hypogonadism |
"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:probinson, PMID:23503957] |
— |
HP:0000135 |
| HPO |
HP:0002992 |
Abnormality of tibia morphology |
"Abnormality of the tibia (shinbone)." [HPO:curators] |
— |
HP:0002981, HP:0040069 |
| HPO |
HP:0010978 |
Abnormality of immune system physiology |
"A functional abnormality of the immune system." [HPO:probinson, MP:0001790] |
— |
HP:0002715 |
| HPO |
HP:0004348 |
Abnormality of bone mineral density |
"This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [HPO:probinson] |
— |
HP:0011849 |
| HPO |
HP:0001646 |
Abnormal aortic valve morphology |
"Any abnormality of the aortic valve." [HPO:curators] |
— |
HP:0001654 |
| HPO |
HP:0000076 |
Vesicoureteral reflux |
"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:probinson] |
— |
HP:0000009, HP:0025634 |
| HPO |
HP:0008572 |
External ear malformation |
"A malformation of the auricle of the ear." [HPO:probinson] |
— |
HP:0000356 |