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Items: 9

1.

Fibrosarcoma

A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. [from HPO]

MedGen UID:
5178
Concept ID:
C0016057
Neoplastic Process
2.

Minimally invasive lung adenocarcinoma

Adenocarcinoma of the Bronchus. [from HPO]

MedGen UID:
2871
Concept ID:
C0007120
Neoplastic Process
3.

Myalgic encephalomeyelitis/chronic fatigue syndrome

A syndrome of unknown etiology. Chronic fatigue syndrome (CFS) is a clinical diagnosis characterized by an unexplained persistent or relapsing chronic fatigue that is of at least six months'' duration, is not the result of ongoing exertion, is not substantially alleviated by rest, and results in substantial reduction of previous levels of occupational, educational, social, or personal activities. Common concurrent symptoms of at least six months duration include impairment of memory or concentration, diffuse pain, sore throat, tender lymph nodes, headaches of a new type, pattern, or severity, and nonrestorative sleep. The etiology of CFS may be viral or immunologic. Neurasthenia and fibromyalgia may represent related disorders. Also known as myalgic encephalomyelitis. [from NCI]

MedGen UID:
5130
Concept ID:
C0015674
Disease or Syndrome
4.

Gonorrhea

An infection that is caused by Gonococcus. [from NCI]

MedGen UID:
9077
Concept ID:
C0018081
Disease or Syndrome
5.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present. [from GeneReviews]

MedGen UID:
46057
Concept ID:
C0032897
Disease or Syndrome
6.

Congenital fibrosarcoma

A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. [from NCI]

MedGen UID:
87246
Concept ID:
C0334459
Neoplastic Process
7.

Chromosome 12p deletion

A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. [from MONDO]

MedGen UID:
208640
Concept ID:
C0795844
Disease or Syndrome
8.

Chromosome 15q24 deletion syndrome

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. [from ORDO]

MedGen UID:
462024
Concept ID:
C3150674
Disease or Syndrome
9.

Prader-Willi syndrome due to translocation

MedGen UID:
1826085
Concept ID:
C5680509
Disease or Syndrome
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