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Items: 5

1.

Idiopathic scoliosis

MedGen UID:
910775
Concept ID:
CN241052
Disease or Syndrome
2.

Scoliosis, isolated, susceptibility to, 1

Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994). Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (154700), dysautonomia (223900), neurofibromatosis (see 162200), Friedreich ataxia (see 229300), and muscular dystrophies. Genetic Heterogeneity of Susceptibility to Isolated Scoliosis Loci for isolated scoliosis have been mapped to chromosome 19 (IS1), chromosome 17 (IS2; 607354), chromosome 8 (IS3; 608765), chromosome 9q31-q34 (IS4; 612238), and chromosome 17q25-qter (IS5; 612239). [from OMIM]

MedGen UID:
438003
Concept ID:
C2700406
Finding
3.

Scoliosis

The presence of an abnormal lateral curvature of the spine. [from HPO]

MedGen UID:
21278
Concept ID:
C0037932
Anatomical Abnormality; Finding
4.

Skin tags

Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. [from HPO]

MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
5.

Scoliosis, idiopathic 3

Idiopathic scoliosis, an abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees, affects approximately 2 to 3% of the worldwide population and has a heritable component (summary by Bashiardes et al., 2004). For a discussion of genetic heterogeneity of isolated scoliosis, see IS1 (181800). [from OMIM]

MedGen UID:
373333
Concept ID:
C1837461
Finding
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