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Items: 10

1.

Exudative vitreoretinopathy 4, digenic

MedGen UID:
865277
Concept ID:
C4016840
Finding
2.

Exudative vitreoretinopathy 4, autosomal recessive

MedGen UID:
865276
Concept ID:
C4016839
Finding
3.

Exudative vitreoretinopathy 4, autosomal dominant

MedGen UID:
865275
Concept ID:
C4016838
Finding
4.

At risk of osteoporosis

MedGen UID:
700660
Concept ID:
C1277579
Finding
5.

High bone mass

MedGen UID:
356443
Concept ID:
C1866080
Finding
6.

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 GTR]

MedGen UID:
356442
Concept ID:
C1866079
Finding
7.

Osteopetrosis autosomal dominant type 1

The osteopetroses are a heterogeneous group of genetic disorders characterized by increased bone density due to impaired bone resorption by osteoclasts. Autosomal dominant osteopetrosis-1 is characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate. Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is characterized by sclerosis predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. Genetic Heterogeneity of Autosomal Dominant Osteopetrosis Autosomal dominant osteopetrosis-2 (OPTA2; 166600) is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13. [from GTR]

MedGen UID:
335932
Concept ID:
C1843330
Disease or Syndrome
8.

Van Buchem disease type 2

MedGen UID:
334380
Concept ID:
C1843323
Disease or Syndrome
9.

Worth disease

MedGen UID:
140932
Concept ID:
C0432273
Disease or Syndrome
10.

Osteoporosis with pseudoglioma

Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).Most affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures. [from GTR]

MedGen UID:
98480
Concept ID:
C0432252
Disease or Syndrome
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