| HPO |
HP:0002270 |
Abnormality of the autonomic nervous system |
"An abnormality of the autonomic nervous system." [HPO:probinson] |
The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. |
HP:0410008 |
| HPO |
HP:0002827 |
Hip dislocation |
"Displacement of the femur from its normal location in the hip joint." [HPO:probinson] |
— |
HP:0001384, HP:0030311 |
| HPO |
HP:0009062 |
Infantile axial hypotonia |
"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy." [HPO:curators] |
— |
HP:0008936, HP:0008947 |
| 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: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:0000119 |
Abnormality of the genitourinary system |
"The presence of any abnormality of the genitourinary system." [HPO:curators] |
— |
HP:0000118 |
| HPO |
HP:0001257 |
Spasticity |
"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] |
— |
HP:0001276, HP:0002493 |
| HPO |
HP:0100704 |
Cerebral visual impairment |
"A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson, PMID:28082927] |
The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. |
HP:0000505 |
| HPO |
HP:0000238 |
Hydrocephalus |
"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, PMID:18211712, PMID:19410151] |
Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. |
HP:0002118, HP:0002921 |
| HPO |
HP:0002871 |
Central apnea |
"Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [HPO:curators] |
— |
HP:0002104 |
| HPO |
HP:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| HPO |
HP:0002363 |
Abnormal brainstem morphology |
"An anomaly of the brainstem." [HPO:probinson] |
— |
HP:0012443 |
| HPO |
HP:0012718 |
Morphological abnormality of the gastrointestinal tract |
"Abnormal structure of the gastrointestinal tract." [HPO:probinson] |
— |
HP:0011024, HP:0025033 |
| HPO |
HP:0012285 |
Abnormal hypothalamus physiology |
"An abnormal functionality of the hypothalamus." [HPO:probinson] |
The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. |
HP:0000864, HP:0010662, HP:0012638 |
| HPO |
HP:0011951 |
Aspiration pneumonia |
"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] |
— |
HP:0002090 |
| HPO |
HP:0031860 |
Abnormal heart rate variability |
"Any abnormality in the variability of the time interval between successive heartbeats." [PMID:8598068] |
— |
HP:0011675 |
| 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:0002451 |
Limb dystonia |
"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [HPO:probinson] |
— |
HP:0001332 |
| HPO |
HP:0000737 |
Irritability |
"A proneness to anger, i.e., a condition of being easily bothered or annoyed." [PMID:27343883] |
— |
HP:0100851 |
| HPO |
HP:0006315 |
Solitary median maxillary central incisor |
"A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors." [PMID:19125428] |
The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and A single maxillary central incisor positioned in the midline with mor- can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-rays examinations. |
HP:0011064 |
| HPO |
HP:0007301 |
Oromotor apraxia |
— |
— |
HP:0002186 |
| HPO |
HP:0002020 |
Gastroesophageal reflux |
"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] |
— |
HP:0025270 |
| HPO |
HP:0045005 |
Neural tube defect |
"A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine." [HPO:probinson, PMID:19808787] |
— |
HP:0410043 |
| HPO |
HP:0000161 |
Median cleft lip |
"A type of cleft lip presenting as a midline (median) gap in the upper lip." [HPO:probinson] |
— |
HP:0000204 |
| HPO |
HP:0000741 |
Apathy |
— |
— |
HP:0000745 |