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Results: 4

1.

Smith McCort dysplasia

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC (Spranger et al., 1976; Nakamura et al., 1997). Genetic Heterogeneity of Smith-McCort Dysplasia Smith-McCort dysplasia-2 (SMC2; 615222) is caused by mutation in the RAB33B gene (605950) on chromosome 18p. [from OMIM]

MedGen UID:
375887
Concept ID:
C1846431
Disease or Syndrome
2.

DNA Breaks, Double-Stranded

Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently. [from MeSH]

MedGen UID:
267994
Concept ID:
C1511667
Cell or Molecular Dysfunction
3.

DNA Breaks

Interruptions in the sugar-phosphate backbone of DNA. [from MeSH]

MedGen UID:
354581
Concept ID:
C1721104
Molecular Function
4.

DNA damage

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS. [from MeSH]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction

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