From HPO
Nephrolithiasis- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Aggressive behavior- MedGen UID:
- 1375
- •Concept ID:
- C0001807
- •
- Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Dyskinesia- MedGen UID:
- 8514
- •Concept ID:
- C0013384
- •
- Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Sleep abnormality- MedGen UID:
- 52372
- •Concept ID:
- C0037317
- •
- Sign or Symptom
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Self-injurious behavior- MedGen UID:
- 88371
- •Concept ID:
- C0085271
- •
- Individual Behavior
Self-aggression.
Choreoathetosis- MedGen UID:
- 39313
- •Concept ID:
- C0085583
- •
- Disease or Syndrome
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Hyperactivity- MedGen UID:
- 98406
- •Concept ID:
- C0424295
- •
- Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Epileptic encephalopathy- MedGen UID:
- 452596
- •Concept ID:
- C0543888
- •
- Disease or Syndrome
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Inability to walk- MedGen UID:
- 107860
- •Concept ID:
- C0560046
- •
- Finding
Incapability to ambulate.
Autistic behavior- MedGen UID:
- 163547
- •Concept ID:
- C0856975
- •
- Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Severe global developmental delay- MedGen UID:
- 332436
- •Concept ID:
- C1837397
- •
- Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Delayed gross motor development- MedGen UID:
- 332508
- •Concept ID:
- C1837658
- •
- Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Absent speech- MedGen UID:
- 340737
- •Concept ID:
- C1854882
- •
- Finding
Complete lack of development of speech and language abilities.
CNS hypomyelination- MedGen UID:
- 892446
- •Concept ID:
- C4025616
- •
- Finding
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
Thin corpus callosum- MedGen UID:
- 1785336
- •Concept ID:
- C5441562
- •
- Anatomical Abnormality
An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
Hypertonia- MedGen UID:
- 10132
- •Concept ID:
- C0026826
- •
- Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Rigidity- MedGen UID:
- 7752
- •Concept ID:
- C0026837
- •
- Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Cerebral visual impairment- MedGen UID:
- 890568
- •Concept ID:
- C4048268
- •
- Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality