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Items: 3

1.

Pregnancy

The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. [from NCI]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
2.

Renal carnitine transport defect

Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. It encompasses a broad clinical spectrum including: Metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis; Childhood myopathy involving heart and skeletal muscle with onset between age two and four years; Pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia; Fatigability in adulthood; Absence of symptoms. The latter two categories often include mothers diagnosed with CDSP after newborn screening has identified low carnitine levels in their infants. [from GeneReviews]

MedGen UID:
90999
Concept ID:
C0342788
Disease or Syndrome
3.

Sudden cardiac death

An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.(NICHD) [from NCI]

MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
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