| HPO |
HP:0006528 |
Chronic lung disease |
"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities." [IMM:tkuijpers] |
— |
HP:0002795 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0000737 |
Irritability |
"A proneness to anger, i.e., a condition of being easily bothered or annoyed." [PMID:27343883] |
— |
HP:0100851 |
| HPO |
HP:0001254 |
Lethargy |
"A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [HPO:probinson] |
— |
HP:0004372 |
| HPO |
HP:0006979 |
Sleep-wake cycle disturbance |
"Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake." [] |
— |
HP:0002360 |
| HPO |
HP:0000741 |
Apathy |
— |
— |
HP:0000745 |
| HPO |
HP:0002019 |
Constipation |
"Infrequent or difficult evacuation of feces." [HPO:probinson] |
— |
HP:0011458 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| HPO |
HP:0011471 |
Gastrostomy tube feeding in infancy |
"Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter] |
This is an extremely severe form of feeding problems in infancy. |
HP:0008872, HP:0033454 |
| HPO |
HP:0000716 |
Depression |
"Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior." [HPO:probinson, PMID:23902698] |
— |
HP:0031466 |
| HPO |
HP:0001545 |
Anteriorly placed anus |
"Anterior malposition of the anus." [HPO:probinson] |
— |
HP:0004397 |
| HPO |
HP:0011471 |
Gastrostomy tube feeding in infancy |
"Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter] |
This is an extremely severe form of feeding problems in infancy. |
HP:0008872, HP:0033454 |
| HPO |
HP:0001273 |
Abnormal corpus callosum morphology |
"Abnormality of the corpus callosum." [HPO:probinson, PMID:21263138] |
The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. |
HP:0002500 |
| HPO |
HP:0002418 |
Abnormal midbrain morphology |
"An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct." [HPO:probinson] |
— |
HP:0012443 |
| HPO |
HP:0012110 |
Hypoplasia of the pons |
"Underdevelopment of the pons." [HPO:probinson] |
— |
HP:0002977, HP:0007361 |
| HPO |
HP:0002474 |
Expressive language delay |
"A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [HPO:probinson] |
— |
HP:0000750 |
| HPO |
HP:0000863 |
Central diabetes insipidus |
"A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators] |
— |
HP:0000873, HP:0011751 |
| 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:0100710 |
Impulsivity |
"Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress." [PMID:23902698] |
— |
HP:0000734 |
| HPO |
HP:0000772 |
Abnormality of the ribs |
"An anomaly of the rib." [HPO:probinson] |
— |
HP:0001547 |
| HPO |
HP:0012650 |
Perisylvian polymicrogyria |
"Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly." [COST:neuromig, HPO:probinson, PMID:15159468, PMID:20301504] |
The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly. |
HP:0002126 |
| HPO |
HP:0002015 |
Dysphagia |
"Difficulty in swallowing." [HPO:probinson] |
— |
HP:0012638, HP:0025270 |
| HPO |
HP:0003468 |
Abnormal vertebral morphology |
"An abnormality of one or more of the vertebrae." [HPO:probinson] |
A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). |
HP:0000925 |
| HPO |
HP:0000736 |
Short attention span |
"Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] |
— |
HP:0000708 |