Format

Send to:

Choose Destination

Links from PubMed

Items: 5

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.

Growth hormone deficiency

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. [from HPO]

MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
3.

Idiopathic growth hormone deficiency

MedGen UID:
450529
Concept ID:
C0342381
Disease or Syndrome
4.

Growth hormone deficiency

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. [from HPO]

MedGen UID:
428231
Concept ID:
CN000771
Finding
5.

Ankle swelling

MedGen UID:
65906
Concept ID:
C0235439
Finding
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...