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Items: 12

1.

Progressive multifocal leukoencephalopathy

A progressive demyelination within the central nervous system associated with reactivation of a latent JC virus infection. [from NCI]

MedGen UID:
7327
Concept ID:
C0023524
Disease or Syndrome
2.

Abetalipoproteinaemia

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). [from GTR]

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
3.

Very Important

A subjective answer of very strong agreement regarding the importance of something. [from NCI]

MedGen UID:
854240
Concept ID:
C3844729
Finding
4.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
5.

Profound

Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
615266
Concept ID:
C0439808
Qualitative Concept
6.

Maternal

A designation that has some relationship to motherhood. [from NCI]

MedGen UID:
348949
Concept ID:
C1858460
Finding
7.

Headache associated with sexual activity

The International Headache Society (1988) classifies headache associated with sexual activity (HSA) as an idiopathic headache under 'miscellaneous headaches unassociated with structural lesions.' Based on initial descriptions, 3 subtypes are differentiated: type 1 is a dull ache in the head and neck that slowly intensifies as sexual excitement increases, and is believed to be caused by muscle contraction similar to tension-type headache; type 2, also called 'vascular-type,' is a sudden severe, explosive headache occurring at orgasm, which may be due to increased intracranial pressure; type 3, the most uncommon type, is a postural headache resembling that caused by decreased CSF pressure, perhaps due to a meningeal tear during coitus (summary by Frese et al., 2003). [from GTR]

MedGen UID:
95989
Concept ID:
C0393754
Sign or Symptom
8.

Mutagenesis

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
9.

Chromosomal translocation

A genetic exchange where a piece of one chromosome is transfered to another chromosome. [from NCI]

MedGen UID:
21243
Concept ID:
C0040715
Cell or Molecular Dysfunction
10.

Chromosomal anomaly

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. [from MeSH]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
11.

PML-RARA Fusion Protein Expression

Expression of a fusion protein that results from a fusion of the human genes PML and RARA. [from NCI]

MedGen UID:
309533
Concept ID:
C1518798
Cell or Molecular Dysfunction
12.

Bone Marrow and Blood Involvement

MedGen UID:
267388
Concept ID:
C1511248
Finding
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