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Results: 1 to 20 of 51

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.

Enchondromatosis

Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia, also known as spondyloenchondrodysplasia (271550), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas). [from OMIM]

MedGen UID:
41775
Concept ID:
C0014084
Congenital Abnormality
3.

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
4.

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
5.

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
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.

Complication Aspects

Used with diseases to indicate conditions that co-exist or follow, i.e., co-existing diseases, complications, or sequelae. [from MeSH]

MedGen UID:
223946
Concept ID:
C1171258
Pathologic Function
8.

vessel (polysaccharide)

MedGen UID:
56099
Concept ID:
C0148346
Pharmacologic Substance
9.

Pain

Unpleasant sensory and emotional experience associated with actual or potential tissue damage. [from OMS]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
10.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
11.

Maffucci syndrome

Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; and spondyloenchondrodysplasia, also known as spondyloenchondrodysplasia (271550), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas). [from OMIM]

MedGen UID:
7437
Concept ID:
C0024454
Congenital Abnormality
12.

Chondrosarcoma

A malignant mesenchymal neoplasm arising from cartilage-forming tissues. [from NCI]

MedGen UID:
3054
Concept ID:
C0008479
Neoplastic Process
13.

Pain

MedGen UID:
776584
Concept ID:
C2364139
Finding
14.

Discrepancy

MedGen UID:
713246
Concept ID:
C1290905
Finding
15.

Limb length discrepancy

MedGen UID:
593326
Concept ID:
C0410785
Finding
16.

Chondrosarcoma

A slowly growing malignant neoplasm derived from cartilage cells. [from HPO]

MedGen UID:
505973
Concept ID:
CN005888
Finding
17.

SUPERNUMERARY DER(22)t(8

Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). Although the supernumerary der(22)t(8;22) phenotype is variable between individuals, it tends to include ear and extremity abnormalities in addition to mild mental retardation (summary by Sheridan et al., 2010). [from OMIM]

MedGen UID:
462316
Concept ID:
C3150966
Disease or Syndrome
18.

Error occurred: cannot get document summary

ID:
429830

19.

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
20.

metaplastic cell transformation

The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function

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