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Items: 7

1.

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
Congenital Abnormality
2.

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_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
4.

Hydrocortisone

The main glucocorticoid secreted by the ADRENAL CORTEX. Its synthetic counterpart is used, either as an injection or topically, in the treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock, and some neoplastic conditions. [from MeSH]

MedGen UID:
9337
Concept ID:
C0020268
Hormone; Organic Chemical; Pharmacologic Substance
5.

Cortosyn

MedGen UID:
196153
Concept ID:
C0701511
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
6.

Acute adrenal insufficiency

Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. [from ORDO]

MedGen UID:
797657
Concept ID:
CN206756
Finding
7.

Central adrenal insufficiency

A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. [from HPO]

MedGen UID:
184925
Concept ID:
C0948387
Disease or Syndrome
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