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Results: 16

1.

Goldenhar syndrome

Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Characteristic findings include facial asymmetry resulting from maxillary and/or mandibular hypoplasia; preauricular or facial tags; ear malformations that can include microtia (hypoplasia of the external ear), anotia (absence of the external ear), or aural atresia (absence of the external ear canal); and hearing loss. Severity can range from subtle facial asymmetry with a small skin tag in front of an otherwise normal-appearing ear to bilateral involvement (typically asymmetric), microtia/anotia with atresia of the ear canals, microphthalmia, and respiratory compromise from severe mandibular hypoplasia. Other craniofacial malformations including cleft lip and/or palate can be seen. Non-craniofacial malformations, especially vertebral, renal, cardiac, and limb, can be seen. [from GeneReviews]

MedGen UID:
75554
Concept ID:
C0265240
Disease or Syndrome
2.

Microsomia hemifacial radial defects

MedGen UID:
67392
Concept ID:
C0220681
Congenital Abnormality
3.

Somatotropin preparation

A protein made by the pituitary gland that helps control body growth and the use of glucose and fat in the body. [from NCI]

MedGen UID:
20836
Concept ID:
C0037663
Pharmacologic Substance
4.

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]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Isolated somatotropin deficiency

Insufficient production of growth hormone. [from NCI]

MedGen UID:
811475
Concept ID:
C3714796
Disease or Syndrome
6.

Goldenhar syndrome

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies. [from ORDO]

MedGen UID:
799750
Concept ID:
CN204886
Disease or Syndrome
7.

Idiopathic growth hormone deficiency

MedGen UID:
450529
Concept ID:
C0342381
Disease or Syndrome
8.

Error occurred: cannot get document summary

ID:
449084

9.

Error occurred: cannot get document summary

ID:
441161

10.

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
11.

Somatotropin deficiency

An abnormality of growth hormone production resulting in below normal levels of circulating growth hormone. [from NCI]

MedGen UID:
82880
Concept ID:
C0271561
Disease or Syndrome
12.

Non-acquired isolated growth hormone deficiency

A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development. [from MeSH]

MedGen UID:
8506
Concept ID:
C0013338
Disease or Syndrome
13.

Hemifacial microsomia

MedGen UID:
831007
Concept ID:
CN199493
Disease or Syndrome
14.

Hemifacial microsomia

MedGen UID:
501171
Concept ID:
C3495417
Congenital Abnormality
15.

Parachute mitral valve

MedGen UID:
488916
Concept ID:
C0546965
Congenital Abnormality
16.

Error occurred: cannot get document summary

ID:
449612

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