| HPO |
HP:0002829 |
Arthralgia |
"Joint pain." [HPO:probinson] |
Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. |
HP:0012531 |
| HPO |
HP:0002028 |
Chronic diarrhea |
"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [HPO:probinson] |
— |
HP:0002014 |
| HPO |
HP:0003019 |
Abnormality of the wrist |
"Abnormality of the wrist, the structure connecting the hand and the forearm." [HPO:probinson] |
— |
HP:0009810 |
| HPO |
HP:0010729 |
Cherry red spot of the macula |
"Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula." [HPO:probinson] |
— |
HP:0000630 |
| HPO |
HP:0001618 |
Dysphonia |
"An impairment in the ability to produce voice sounds." [HPO:probinson] |
— |
HP:0001608, HP:0002167 |
| HPO |
HP:0001336 |
Myoclonus |
"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:probinson, PMID:20589866] |
Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. |
HP:0004305 |
| 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:0002098 |
Respiratory distress |
"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." [] |
— |
HP:0002094 |
| HPO |
HP:0025392 |
Nodular pattern on pulmonary HRCT |
"A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter." [PMID:23247773] |
— |
HP:0025389 |
| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| HPO |
HP:0009381 |
Short finger |
"Abnormally short finger associated with developmental hypoplasia." [HPO:probinson] |
— |
HP:0005922, HP:0006265, HP:0011927 |
| HPO |
HP:0001386 |
Joint swelling |
— |
— |
HP:0000969, HP:0001367 |
| HPO |
HP:0007470 |
Periarticular subcutaneous nodules |
"Subcutaneous nodules that are located in the vicinity of joints." [HPO:probinson] |
— |
HP:0001482 |
| HPO |
HP:0000939 |
Osteoporosis |
"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453] |
Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. |
HP:0004349 |
| HPO |
HP:0002376 |
Developmental regression |
"Loss of developmental skills, as manifested by loss of developmental milestones." [DDD:hvfirth] |
Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. |
HP:0012759 |
| HPO |
HP:0001433 |
Hepatosplenomegaly |
"Simultaneous enlargement of the liver and spleen." [HPO:probinson] |
— |
HP:0003271, HP:0025408, HP:0410042 |
| HPO |
HP:0001508 |
Failure to thrive |
"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] |
Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). |
HP:0004325 |
| HPO |
HP:0001612 |
Weak cry |
— |
— |
HP:0025429 |
| HPO |
HP:0002207 |
Diffuse reticular or finely nodular infiltrations |
— |
— |
HP:0002113 |
| HPO |
HP:0100750 |
Atelectasis |
"Collapse of part of a lung associated with absence of inflation (air) of that part." [HPPO:probinson] |
— |
HP:0031983 |
| 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:0001954 |
Recurrent fever |
"Periodic (episodic or recurrent) bouts of fever." [HPO:probinson] |
— |
HP:0001945 |
| HPO |
HP:0001371 |
Flexion contracture |
"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] |
— |
HP:0003549, HP:0011729, HP:0011805, HP:0100261 |
| HPO |
HP:0003640 |
CNS foam cells |
"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system." [] |
— |
HP:0003651 |
| HPO |
HP:0002093 |
Respiratory insufficiency |
— |
— |
HP:0002795 |