| HPO |
HP:0000280 |
Coarse facial features |
"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [PMID:19125436] |
— |
HP:0001999 |
| HPO |
HP:0010943 |
Echogenic fetal bowel |
"Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone." [HPO:probinson, PMID:16100637, PMID:20175047] |
Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater. |
HP:0011425 |
| HPO |
HP:0000568 |
Microphthalmia |
"A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] |
— |
HP:0008056, HP:0100887 |
| HPO |
HP:0001622 |
Premature birth |
"The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson] |
— |
HP:0001197 |
| HPO |
HP:0030842 |
Choking episodes |
"Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing." [HPO:probinson] |
— |
HP:0100738 |
| HPO |
HP:0000527 |
Long eyelashes |
"Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [PMID:19125427, PMID:26288407] |
Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. |
HP:0000499 |
| HPO |
HP:0001274 |
Agenesis of corpus callosum |
"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
— |
HP:0007370 |
| HPO |
HP:0040288 |
Nasogastric tube feeding |
"The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food." [PMID:25874832] |
— |
HP:0033454 |
| HPO |
HP:0000400 |
Macrotia |
"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [PMID:19152421] |
This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. |
HP:0000377 |
| 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:0001396 |
Cholestasis |
"Impairment of bile flow due to obstruction in bile ducts." [HPO:probinson] |
— |
HP:0004297 |
| HPO |
HP:0002779 |
Tracheomalacia |
— |
— |
HP:0002778 |
| 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:0002240 |
Hepatomegaly |
"Abnormally increased size of the liver." [HPO:probinson] |
— |
HP:0003271, HP:0410042 |
| HPO |
HP:0005164 |
Dysplastic pulmonary valve |
"A congenital malformation of the pulmonary valve characterized by leaflet deformation." [PMID:7704986] |
— |
HP:0001641 |
| HPO |
HP:0001882 |
Leukopenia |
"An abnormal decreased number of leukocytes in the blood." [HPO:probinson] |
— |
HP:0011893 |
| HPO |
HP:0001363 |
Craniosynostosis |
"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:probinson] |
Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. |
HP:0002648, HP:0011329 |
| HPO |
HP:0001945 |
Fever |
"Body temperature elevated above the normal range." [HPO:sdoelken, PMID:9759682] |
Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. |
HP:0004370 |
| HPO |
HP:0002721 |
Immunodeficiency |
"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227] |
— |
HP:0010978 |
| HPO |
HP:0000980 |
Pallor |
"Abnormally pale skin." [HPO:probinson] |
— |
HP:0011121 |
| HPO |
HP:0001655 |
Patent foramen ovale |
"Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [DDD:dbrown, HPO:probinson] |
The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. |
HP:0001631 |
| HPO |
HP:0012447 |
Abnormal myelination |
"Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [HPO:probinson, MP:0000920] |
— |
HP:0012639 |
| HPO |
HP:0000343 |
Long philtrum |
"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [PMID:19152422] |
— |
HP:0000288 |
| HPO |
HP:0001357 |
Plagiocephaly |
"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [PMID:19125436] |
Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. |
HP:0002648 |
| HPO |
HP:0000278 |
Retrognathia |
"An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] |
— |
HP:0000277 |