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Items: 14

1.

Osteopetrosis

Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. [from HPO]

MedGen UID:
18223
Concept ID:
C0029454
Disease or Syndrome; Finding
2.

Osteopetrosis

Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. [from ORDO]

MedGen UID:
831363
Concept ID:
CN227101
Finding
3.

Profound

Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
615266
Concept ID:
C0439808
Qualitative Concept
4.

Osteopetrosis autosomal dominant type 2

The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII, Albers-Schönberg disease). Onset of ARO is in infancy. Findings may include: fractures; poor growth; sclerosis of the skull base (with or without choanal stenosis or hydrocephalus) resulting in optic nerve compression, facial palsy, and hearing loss; absence of the bone marrow cavity resulting in severe anemia and thrombocytopenia; dental abnormalities, odontomas, and risk for mandibular osteomyelitis; and hypocalcemia with tetanic seizures and secondary hyperparathyroidism. Without treatment maximal life span in ARO is ten years. Onset of IAO is in childhood. Findings may include fractures after minor trauma, characteristic skeletal radiographic changes found incidentally, mild anemia, and occasional visual impairment secondary to optic nerve compression. Life expectancy in IAO is usually normal. Onset of ADOII is usually late childhood or adolescence. Findings may include: fractures (in any long bone and/or the posterior arch of a vertebra), scoliosis, hip osteoarthritis, and osteomyelitis of the mandible or septic osteitis or osteoarthritis elsewhere. Cranial nerve compression is rare. [from GeneReviews]

MedGen UID:
371629
Concept ID:
C1833700
5.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. (NCI) [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
6.

Disorder of bone

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D and exercise. . There are many kinds of bone problems:. - Low bone density and osteoporosis, which make your bones weak and more likely to break . - Osteogenesis imperfecta makes your bones brittle . - Paget's disease of bone makes them weak . - Bone disease can make bones easy to break . - Bones can also develop cancer and infections. - Other bone diseases are caused by poor nutrition, genetic factors or problems with the rate of bone growth or rebuilding. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
7.

Increased bone mineral density

An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. [from HPO]

MedGen UID:
10502
Concept ID:
C0029464
Disease or Syndrome
8.

Osteochondrodysplasia

A general term describing features characterized by abnormal development of bones and connective tissues. [from HPO]

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality; Disease or Syndrome
9.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
10.

Dyschondroplasias

MedGen UID:
3933
Concept ID:
C0013366
Congenital Abnormality
11.

Disorder of bone development

Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. [from MeSH]

MedGen UID:
2309
Concept ID:
C0005941
Disease or Syndrome
12.

Osteopetrosis Autosomal Dominant Type 2

MedGen UID:
465707
Concept ID:
C3179239
Congenital Abnormality; Disease or Syndrome
13.

Osteochondrodysplasia with osteopetrosis

MedGen UID:
539184
Concept ID:
C0265300
Congenital Abnormality; Disease or Syndrome
14.

Mouse Extramedullary Hematopoiesis

MedGen UID:
285698
Concept ID:
C1522130
Pathologic Function
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