Display Settings:

Format
Items per page

Send to:

Choose Destination

Results: 1 to 20 of 65

1.

Hyperplasia

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

MedGen UID:
43784
Concept ID:
C0020507
Pathologic Function
2.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
3.

Congenital adrenal hyperplasia

A type of adrenal hyperplasia with congenital onset. [from HPO]

MedGen UID:
506200
Concept ID:
CN007259
Finding
4.

Adrenal hyperplasia

Enlargement of the adrenal gland. [from HPO]

MedGen UID:
506187
Concept ID:
CN007224
Finding
5.

Renal salt wasting

A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). [from HPO]

MedGen UID:
504354
Concept ID:
CN000123
Finding
6.

Adrenal hyperplasia

A congenital or acquired hyperplasia of the cells of the adrenal cortex or medulla. [from NCI]

MedGen UID:
301220
Concept ID:
C1621895
Disease or Syndrome
7.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
8.

Congenital adrenal hyperplasia

A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. [from MeSH]

MedGen UID:
7900
Concept ID:
C0001627
Disease or Syndrome
9.

Dehydroepiandrosterone sulfate

The circulating form of a major C19 steroid produced primarily by the ADRENAL CORTEX. DHEA sulfate serves as a precursor for TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. [from MeSH]

MedGen UID:
27975
Concept ID:
C0057277
Pharmacologic Substance
10.

dehydroepiandrosterone

A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion. [from MeSH]

MedGen UID:
4171
Concept ID:
C0011185
Pharmacologic Substance
11.

Premature pubarche

The onset of growth of pubic hair at an earlier age than normal. [from HPO]

MedGen UID:
760111
Concept ID:
CN181473
Finding
12.

Bone age

MedGen UID:
607477
Concept ID:
C0429620
Finding
13.

Growth acceleration

MedGen UID:
569477
Concept ID:
C0333957
Pathologic Function
14.

Error occurred: cannot get document summary

ID:
472003

15.

Error occurred: cannot get document summary

ID:
472002

16.

21-hydroxylase deficiency

21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth. [from GeneReviews]

MedGen UID:
468578
Concept ID:
C0852654
Disease or Syndrome
17.

Accelerated skeletal maturation

An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [from HPO]

MedGen UID:
428158
Concept ID:
CN004973
Finding
18.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

MedGen UID:
424833
Concept ID:
C2936858
Congenital Abnormality
19.

Life Threatening

A situation that imperils the existence of an entity. [from NCI]

MedGen UID:
415288
Concept ID:
C2826244
Finding
20.

Spondyloepiphyseal dysplasia with congenital joint dislocations

CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect, vision, and hearing are normal. [from GeneReviews]

MedGen UID:
374477
Concept ID:
C1840471
Disease or Syndrome

Display Settings:

Format
Items per page

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...