From HPO
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.
Growth abnormality- MedGen UID:
- 808205
- •Concept ID:
- C0262361
- •
- Finding
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Cerebral edema- MedGen UID:
- 2337
- •Concept ID:
- C0006114
- •
- Pathologic Function
Abnormal accumulation of fluid in the brain.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Coma- MedGen UID:
- 1054
- •Concept ID:
- C0009421
- •
- Disease or Syndrome
Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Hallucinations- MedGen UID:
- 6709
- •Concept ID:
- C0018524
- •
- Mental or Behavioral Dysfunction
Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.
Lethargy- MedGen UID:
- 7310
- •Concept ID:
- C0023380
- •
- Sign or Symptom
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
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.
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.
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.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Pancreatitis- MedGen UID:
- 14586
- •Concept ID:
- C0030305
- •
- Disease or Syndrome
The presence of inflammation in the pancreas.
Lactic acidosis- MedGen UID:
- 1717
- •Concept ID:
- C0001125
- •
- Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Ketosis- MedGen UID:
- 7206
- •Concept ID:
- C0022638
- •
- Disease or Syndrome
Presence of elevated levels of ketone bodies in the body.
Elevated circulating branched chain amino acid concentration- MedGen UID:
- 870259
- •Concept ID:
- C4024697
- •
- Finding
An increased concentration of a branched chain amino acid in the blood.
Elevated circulating L-alloisoleucine concentration- MedGen UID:
- 1753697
- •Concept ID:
- C5421646
- •
- Finding
Abnormally increased concentration of L-alloisoleucine in the blood circulation.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality