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Results: 18

1.

Sclerosteosis

SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD). [from GeneReviews]

MedGen UID:
120530
Concept ID:
C0265301
Disease or Syndrome
2.

MedGen UID:
108287
Concept ID:
C0577559
3.

Osteoporosis

A disorder characterized by reduced bone mass, with a decrease in cortical thickness and in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. [from NCI]

MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
4.

Osteoporosis

MedGen UID:
776590
Concept ID:
C2911643
Finding
5.

Bone mineral density quantitative trait locus 8

MedGen UID:
394842
Concept ID:
C2678504
Disease or Syndrome
6.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
7.

Stress

The response of the body to physical, mental, or emotional pressure. This may make a person feel frustrated, angry, or anxious, and may cause unhealthy chemical changes in the body. Untreated, long-term stress may lead to many types of mental and physical health problems. [from NCI]

MedGen UID:
20971
Concept ID:
C0038435
Finding
8.

Osteoporosis

Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. [from MeSH]

MedGen UID:
10498
Concept ID:
C0029458
Disease or Syndrome
9.

Elderly person

A person 65 through 79 years of age. For a person older than 79 years, AGED, 80 AND OVER is available. [from MeSH]

MedGen UID:
7927
Concept ID:
C0001792
Finding
10.

Biochemical Processes

Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things. [from MeSH]

MedGen UID:
267723
Concept ID:
C1511130
Molecular Function
11.

MedGen UID:
108834
Concept ID:
C0591833
12.

Sugar

A white crystalline carbohydrate, typically sucrose, used as a sweetener and preservative. [from NCI]

MedGen UID:
69157
Concept ID:
C0242209
Pharmacologic Substance
13.

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
14.

Up-Regulation (Physiology)

A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
12003
Concept ID:
C0041904
Molecular Function
15.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
16.

Disorder of musculoskeletal system

condition in which there is a deviation from or interruption of the normal structure or function of any muscles, bones, or cartilages of the body. [from CRISP]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
17.

Interrupted ossification

MedGen UID:
673566
Concept ID:
C0686764
Pathologic Function
18.

Environment-to-Cell Communication

Any process by which signals are passed between two distinct cell types over a distance, typically through the circulatory system. This process is employed in most hormone-receptor communication, and is involved in metabolism, immune response, sexual development, behavior, nervous system function, regulation of mood and circadian rhythms, as well as other processes. [from NCI]

MedGen UID:
275823
Concept ID:
C1516882
Molecular Function

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