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Items: 19

1.

Fibromatosis

A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. [from NCI]

MedGen UID:
8836
Concept ID:
C0016048
Neoplastic Process
2.

Hyaline fibromatosis syndrome

Inherited systemic hyalinosis is characterized by hyaline deposits in the papillary dermis and other tissues. It typically presents at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) die in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood. [from GeneReviews]

MedGen UID:
411197
Concept ID:
C2745948
Disease or Syndrome
3.

Skin lesions

MedGen UID:
508146
Concept ID:
C0037284
Disease or Syndrome
4.

Papule

A small, solid lesion, less than 1 cm in diameter, raised above the surface of the surrounding skin and hence palpable [from SNOMEDCT_US]

MedGen UID:
507324
Concept ID:
C0332563
Finding
5.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
6.

Flexion contracture

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [from HPO]

MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
7.

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
8.

Fibrous tissue neoplasm

Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue. [from MeSH]

MedGen UID:
60198
Concept ID:
C0206643
Neoplastic Process
9.

Fibromyxoid Tumor

A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present. [from NCI]

MedGen UID:
60023
Concept ID:
C0205766
Neoplastic Process
10.

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
11.

Fibroma

Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \ [from HPO]

MedGen UID:
42016
Concept ID:
C0016045
Neoplastic Process
12.

Consanguinity

The magnitude of INBREEDING in humans. [from MeSH]

MedGen UID:
3213
Concept ID:
C0009789
Finding
13.

Benign neoplasm of skin of neck

MedGen UID:
577976
Concept ID:
C0347367
Neoplastic Process
14.

Benign neoplasm of skin of scalp

MedGen UID:
577975
Concept ID:
C0347366
Neoplastic Process
15.

Malignant neoplasm of scalp

MedGen UID:
577589
Concept ID:
C0346737
Neoplastic Process
16.

Hypertrophic condition of skin

MedGen UID:
538021
Concept ID:
C0263630
Disease or Syndrome
17.

Benign neoplasm of scalp and skin of neck

MedGen UID:
509497
Concept ID:
C0153986
Neoplastic Process
18.

Contractures of the large joints

Sclerosis (increased density) affecting vertebral end plates. [from HPO]

MedGen UID:
347211
Concept ID:
C1859698
Finding
19.

Cutaneous Fibroblastic Neoplasm

A benign or malignant neoplasm arising from the dermis. It is characterized by the presence of neoplastic fibroblasts. [from NCI]

MedGen UID:
138097
Concept ID:
C0349527
Neoplastic Process
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