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Results: 1 to 20 of 43

1.

Hyperammonaemia

Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA. [from MeSH]

MedGen UID:
113136
Concept ID:
C0220994
Pathologic Function
2.

Lethargy

A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION. [from MeSH]

MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
3.

Hyperammonemia

An increased concentration of ammonia in the blood. [from HPO]

MedGen UID:
505040
Concept ID:
CN001799
Finding
4.

Lethargy

A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. [from HPO]

MedGen UID:
504769
Concept ID:
CN001149
Finding
5.

Ornithine carbamoyltransferase deficiency

Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a late-onset (partial) disease in males and females. Males with severe neonatal-onset OTC deficiency are typically normal at birth but become symptomatic from hyperammonemia on day two to three of life and are usually catastrophically ill by the time they come to medical attention. After successful treatment of neonatal hyperammonemic coma these infants can easily become hyperammonemic again despite appropriate treatment; they typically require liver transplant by age six months to improve quality of life. Males and heterozygous females with late-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. No matter how mild the disease, a hyperammonemic crisis can be precipitated by stressors and become a life-threatening event at any age and in any situation in life. For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention deficit hyperactivity disorder (ADHD), and executive function deficits. [from GeneReviews]

MedGen UID:
75692
Concept ID:
C0268542
Disease or Syndrome
6.

Orotic acid

MedGen UID:
45233
Concept ID:
C0029300
Pharmacologic Substance
7.

Arginine

One of the twenty common amino acids (building blocks of proteins). Arginine is being studied as a nutritional supplement in the treatment and prevention of cancer and other conditions. [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Pharmacologic Substance
8.

Coma

A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
9.

Arginine supplement

MedGen UID:
830380
Concept ID:
C3853287
Pharmacologic Substance
10.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
11.

Coma

Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. [from HPO]

MedGen UID:
446396
Concept ID:
CN001154
Finding
12.

Abnormality

A condition that differs from the usual physical or mental state. [from NCI]

MedGen UID:
309940
Concept ID:
C1704258
Finding
13.

Oculomotor apraxia - Cogan type

MedGen UID:
154254
Concept ID:
C0543874
Congenital Abnormality
14.

Cogan's syndrome

Congenital oculomotor apraxia, first reported by Cogan (1952), is characterized by (1) defective or absent horizontal voluntary eye movements, and (2) defective or absent horizontal ocular attraction movements. Oculomotor apraxia occurs in ataxia-telangiectasia (208900). Also see ataxia-oculomotor apraxia syndrome (208920; 606002). Oculomotor apraxia has been observed in the neuronopathic form of Gaucher disease (type III; 231000) (Erikson and Wahlberg, 1985; Gross-Tsur et al., 1989). [from OMIM]

MedGen UID:
82871
Concept ID:
C0271270
Disease or Syndrome
15.

X-linked inheritance

MedGen UID:
66838
Concept ID:
C0241764
16.

Finding

The result of an examination or inquiry. [from NCI]

MedGen UID:
66215
Concept ID:
C0243095
Finding
17.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
18.

Infection

Invasion of the host organism by microorganisms that can cause pathological conditions or diseases. [from MeSH]

MedGen UID:
811352
Concept ID:
C3714514
Pathologic Function
19.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
20.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome

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