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Items: 1 to 20 of 23

1.

Hyperplasia

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

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

Congenital adrenal hyperplasia

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

MedGen UID:
506200
Concept ID:
CN007259
Finding
3.

Adrenal hyperplasia

Enlargement of the adrenal gland. [from HPO]

MedGen UID:
301220
Concept ID:
C1621895
Disease or Syndrome
4.

Cholesterol monooxygenase (side-chain cleaving) deficiency

Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy (summary by Lin et al., 1991 and Bose et al., 1996). [from OMIM]

MedGen UID:
83341
Concept ID:
C0342474
Disease or Syndrome
5.

Congenital adrenal hyperplasia

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

MedGen UID:
7900
Concept ID:
C0001627
Disease or Syndrome
6.

Adrenogenital syndrome

Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. [from HPO]

MedGen UID:
86215
Concept ID:
C0302280
Disease or Syndrome
7.

Adrenogenital syndrome

MedGen UID:
799716
Concept ID:
CN200506
Disease or Syndrome
8.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
9.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
10.

Steroid Metabolism, Inborn Errors

Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
219772
Concept ID:
C1257809
Disease or Syndrome
11.

Adreson

MedGen UID:
152288
Concept ID:
C0701248
Hormone; Organic Chemical; Pharmacologic Substance
12.

Abnormality of the genitourinary system

The presence of any abnormality of the genitourinary system. [from HPO]

MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
13.

Disorders of Sex Development

disorder or perturbation of rate or processes of sexual maturation; includes abnormalities in sexual differentiation due to the presence or absence of genetic and endocrine factors; sex determining genes dictate the gonadal sex whereas the fetal testicular hormones determine the somatic sex during sex differentiation. [from CRISP]

MedGen UID:
20725
Concept ID:
C0036875
Congenital Abnormality
14.

Pseudohermaphroditism

Gonads of one sex are present, while the external genital organs resemble in whole or in part those of the opposite sex. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) [from NCI_CDISC]

MedGen UID:
10991
Concept ID:
C0033804
Congenital Abnormality
15.

Gonadal Disorders

Pathological processes of the OVARIES or the TESTES. [from MeSH]

MedGen UID:
9074
Concept ID:
C0018050
Disease or Syndrome
16.

Hermaphroditism

Presence of both male and female gonadal tissue. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) [from NCI_CDISC]

MedGen UID:
6815
Concept ID:
C0019269
Disease or Syndrome
17.

Inborn error of metabolism

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
18.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
19.

Adrenal Cortex Hormones

Any steroid hormone made in the adrenal cortex (the outer part of the adrenal gland). They are also made in the laboratory. Corticosteroids have many different effects in the body, and are used to treat many different conditions. They may be used as hormone replacement, to suppress the immune system, and to treat some side effects of cancer and its treatment. Corticosteroids are also used to treat certain lymphomas and lymphoid leukemias. [from NCI_NCI-GLOSS]

MedGen UID:
1767
Concept ID:
C0001617
Hormone; Organic Chemical; Pharmacologic Substance
20.

Congenital Abnormality

Malformations of organs or body parts during development in utero. [from MeSH]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
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