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Items: 18

1.

Disease susceptibility

A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. [from MONDO]

MedGen UID:
41610
Concept ID:
C0012655
Clinical Attribute
2.

Partial duplication of chromosome 4

MedGen UID:
1392317
Concept ID:
C4518492
Cell or Molecular Dysfunction
3.

Partial duplication of chromosome 11

MedGen UID:
1386777
Concept ID:
C4518499
Cell or Molecular Dysfunction
4.

Partial duplication of chromosome 1

MedGen UID:
1379629
Concept ID:
C4518488
Cell or Molecular Dysfunction
5.

Partial duplication of chromosome 2

MedGen UID:
1372476
Concept ID:
C4518490
Cell or Molecular Dysfunction
6.

Partial duplication of chromosome 12

MedGen UID:
1053574
Concept ID:
CN377725
Disease or Syndrome
7.

Bone mineral density variation quantitative trait locus

MedGen UID:
864388
Concept ID:
C4015951
Finding
8.

Bone mineral density quantitative trait locus 15

MedGen UID:
462030
Concept ID:
C3150680
Finding
9.

Partial duplication of chromosome 8

MedGen UID:
419136
Concept ID:
C2931671
Cell or Molecular Dysfunction
10.

Bone mineral density quantitative trait locus 8

MedGen UID:
394842
Concept ID:
C2678504
Finding
11.

Bone mineral density quantitative trait locus 9

MedGen UID:
393757
Concept ID:
C2677499
Finding
12.

Bone mineral density quantitative trait locus 11

MedGen UID:
393756
Concept ID:
C2677497
Finding
13.

Bone mineral density quantitative trait locus 12

MedGen UID:
390818
Concept ID:
C2675513
Finding
14.

Bone mineral density quantitative trait locus 1

Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems. [from MedlinePlus Genetics]

MedGen UID:
356442
Concept ID:
C1866079
Finding
15.

Bone size quantitative trait locus 1

MedGen UID:
355833
Concept ID:
C1864783
Finding
16.

Bone size quantitative trait locus 2

MedGen UID:
355832
Concept ID:
C1864782
Finding
17.

Bone mineral density quantitative trait locus 2

MedGen UID:
340084
Concept ID:
C1853912
Finding
18.

Bone mineral density quantitative trait locus 4

MedGen UID:
337191
Concept ID:
C1845236
Finding
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