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Results: 1 to 20 of 26

1.

Exostosis

Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component. [from MeSH]

MedGen UID:
257035
Concept ID:
C1442903
Pathologic Function
2.

Multiple exostoses

Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. [from HPO]

MedGen UID:
505349
Concept ID:
CN002506
Finding
3.

Exostoses

An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. [from HPO]

MedGen UID:
452009
Concept ID:
CN117667
Finding
4.

Hereditary multiple osteochondromas

The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). [from GeneReviews]

MedGen UID:
449089
Concept ID:
CN072831
Disease or Syndrome
5.

Multiple exostoses type 2

The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). [from GeneReviews]

MedGen UID:
377018
Concept ID:
C1851413
Disease or Syndrome
6.

Multiple congenital exostosis

The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). [from GeneReviews]

MedGen UID:
4612
Concept ID:
C0015306
Disease or Syndrome
7.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Pharmacologic Substance
8.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
9.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
10.

Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
11.

Neoplasms, Bone Tissue

Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones. [from MeSH]

MedGen UID:
104905
Concept ID:
C0206639
Neoplastic Process
12.

Osteochondromatosis

A neoplastic chondrogenic process affecting multiple sites. Grossly and microscopically it resembles an osteochondroma. [from NCI]

MedGen UID:
64625
Concept ID:
C0206641
Neoplastic Process
13.

Connective and Soft Tissue Neoplasm

Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. [from MeSH]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
14.

Neoplasm of connective tissues

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. [from MeSH]

MedGen UID:
45035
Concept ID:
C0027656
Neoplastic Process
15.

Neoplastic Syndromes, Hereditary

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. [from MeSH]

MedGen UID:
14326
Concept ID:
C0027672
Neoplastic Process
16.

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
17.

Cartilaginous exostosis

A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors. [from MeSH]

MedGen UID:
10496
Concept ID:
C0029423
Neoplastic Process
18.

Osteochondrodysplasia

Abnormal development of cartilage and bone. [from MeSH]

MedGen UID:
10495
Concept ID:
C0029422
Congenital Abnormality
19.

Hyperostosis

Increase in the mass of bone per unit volume. [from MeSH]

MedGen UID:
9366
Concept ID:
C0020492
Disease or Syndrome
20.

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

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