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Items: 7

1.

DNA Cleavage

A reaction that severs one of the covalent sugar-phosphate linkages between NUCLEOTIDES that compose the sugar phosphate backbone of DNA. It is catalyzed enzymatically, chemically or by radiation. Cleavage may be exonucleolytic - removing the end nucleotide, or endonucleolytic - splitting the strand in two. [from MeSH]

MedGen UID:
328454
Concept ID:
C1721094
Molecular Function
2.

Separated from cohabitee

Indicates a person living apart from his/her spouse by legal arrangement. [from NCI]

MedGen UID:
88651
Concept ID:
C0086972
Finding
3.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
4.

Mobility

Ability to move purposefully in own environment independently with or without assistive device [from NOC]

MedGen UID:
603859
Concept ID:
C0425245
Finding
5.

DNA Double Strand Break

A DNA Double Strand Break involves a disruption of the covalent linkages among the phosphodeoxyribose moieties within the sugar-phosphate backbone in both strands of a DNA molecule. [from NCI]

MedGen UID:
267994
Concept ID:
C1511667
Cell or Molecular Dysfunction
6.

Russell-Silver syndrome

Russell-Silver syndrome (RSS) is characterized by intrauterine growth retardation accompanied by postnatal growth deficiency. The birth weight of affected infants is typically two or more SD below the mean, and postnatal growth two or more SD below the mean for length or height. Affected individuals typically have proportionately short stature, normal head circumference, fifth-finger clinodactyly, typical facial features with triangular facies characterized by broad forehead and narrow chin, and limb-length asymmetry that may result from hemihypotrophy with diminished growth of the affected side. Growth velocity is normal in children with RSS. The average adult height of males is 151.2 cm and that of females is 139.9 cm. Evidence exists that children with RSS are at significant risk for developmental delay (both motor and cognitive) and learning disabilities. [from GTR]

MedGen UID:
104492
Concept ID:
C0175693
Disease or Syndrome
7.

Eichsfeld type congenital muscular dystrophy

Multiminicore disease (MmD) is broadly classified into four groups: Classic form (75% of individuals). Moderate form, with hand involvement (<10%). Antenatal form, with arthrogryposis multiplex congenita (<10%). Ophthalmoplegic form (<10%). Onset of the classic form is usually congenital or early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement (often with secondary cardiac impairment). Spinal rigidity of varying severity is present. [from GTR]

MedGen UID:
98047
Concept ID:
C0410180
Disease or Syndrome
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