From HPO
Aggressive behavior- MedGen UID:
- 1375
- •Concept ID:
- C0001807
- •
- Individual Behavior
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Anxiety- MedGen UID:
- 1613
- •Concept ID:
- C0003467
- •
- Finding
Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
Depression- MedGen UID:
- 4229
- •Concept ID:
- C0011581
- •
- Mental or Behavioral Dysfunction
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.
Scleroderma- MedGen UID:
- 3770
- •Concept ID:
- C0011644
- •
- Disease or Syndrome
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
Eczema- MedGen UID:
- 3968
- •Concept ID:
- C0013595
- •
- Disease or Syndrome
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Psychosis- MedGen UID:
- 19568
- •Concept ID:
- C0033975
- •
- Mental or Behavioral Dysfunction
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
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.
Self-mutilation- MedGen UID:
- 19925
- •Concept ID:
- C0036601
- •
- Injury or Poisoning
The act of injuring one''s own body to the extent of cutting off or permanently destroying a limb or other essential part of a body.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Cerebral calcification- MedGen UID:
- 124360
- •Concept ID:
- C0270685
- •
- Finding
The presence of calcium deposition within brain structures.
Hyperactivity- MedGen UID:
- 98406
- •Concept ID:
- C0424295
- •
- Finding
Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
Blue irides- MedGen UID:
- 108297
- •Concept ID:
- C0578626
- •
- Finding
A markedly blue coloration of the iris.
Compulsive behaviors- MedGen UID:
- 109373
- •Concept ID:
- C0600104
- •
- Mental or Behavioral Dysfunction
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Hyperphenylalaninemia- MedGen UID:
- 155558
- •Concept ID:
- C0751435
- •
- Disease or Syndrome
An increased concentration of L-phenylalanine in the blood.
Attention deficit hyperactivity disorder- MedGen UID:
- 220387
- •Concept ID:
- C1263846
- •
- Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.
Fair hair- MedGen UID:
- 336542
- •Concept ID:
- C1849221
- •
- Finding
A lesser degree of hair pigmentation than would otherwise be expected.
Generalized hypopigmentation- MedGen UID:
- 340426
- •Concept ID:
- C1849923
- •
- Finding
Phenylpyruvic acidemia- MedGen UID:
- 376669
- •Concept ID:
- C1849926
- •
- Finding
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a condition of being easily bothered or annoyed.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
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.
Maternal hyperphenylalaninemia- MedGen UID:
- 867625
- •Concept ID:
- C4022014
- •
- Finding
A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.
Reduced phenylalanine hydroxylase level- MedGen UID:
- 892453
- •Concept ID:
- C4025094
- •
- Finding
A reduction in phenylalanine 4-monooxygenase level.
Pregnancy history- MedGen UID:
- 871211
- •Concept ID:
- C4025690
- •
- Anatomical Abnormality
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Increased level of hippuric acid in urine- MedGen UID:
- 1640306
- •Concept ID:
- C4703632
- •
- Finding
An increase in the level of hippuric acid in the urine.
Elevated urinary phenylpyruvic acid level- MedGen UID:
- 1001955
- •Concept ID:
- CN323159
- •
- Finding
An abnormally increased amount of phenylpyruvic acid in the urine.