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Items: 1 to 20 of 74

1.

Hamartoma

A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. [from NCI]

MedGen UID:
6713
Concept ID:
C0018552
Neoplastic Process
2.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from GTR]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
3.

Lesion

A localized pathological or traumatic structural change, damage, deformity, or discontinuity of tissue, organ, or body part. [from NCI]

MedGen UID:
65128
Concept ID:
C0221198
Finding
4.

PTEN hamartoma tumor syndrome

The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS. [from GTR]

MedGen UID:
368366
Concept ID:
C1959582
Neoplastic Process
5.

Pain

An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. [from MeSH]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
6.

Hyperplasia

An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. [from NCI]

MedGen UID:
43784
Concept ID:
C0020507
Pathologic Function
7.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
8.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
9.

Cowden

MedGen UID:
880155
Concept ID:
CN235605
Finding
10.

Usually

A response indicating that something happens or happened most of the time. [from NCI]

MedGen UID:
854883
Concept ID:
C3888388
Finding
11.

Soft tissue lesion

MedGen UID:
592758
Concept ID:
C0410013
Pathologic Function
12.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
13.

Resonance

MedGen UID:
534094
Concept ID:
C0231881
Finding
14.

Overgrowth

Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. [from HPO]

MedGen UID:
376550
Concept ID:
C1849265
Finding
15.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
16.

Mass of body structure

A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammatory cells, or cystic changes. [from NCI]

MedGen UID:
108287
Concept ID:
C0577559
Finding
17.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
18.

Multifocal

Arising from, pertaining to, or having many locations. [from NCI]

MedGen UID:
59976
Concept ID:
C0205292
Spatial Concept
19.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
20.

Swelling

Enlargement; expansion in size; sign of inflammation [from NCI]

MedGen UID:
21042
Concept ID:
C0038999
Finding
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