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Results: 14

1.

Female pseudohermaphroditism

MedGen UID:
65964
Concept ID:
C0238394
Disease or Syndrome
2.

Hyperplasia

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

MedGen UID:
43784
Concept ID:
C0020507
Pathologic Function
3.

Pseudohermaphroditism

A condition of sexual ambiguity in which the individual (pseudohermaphrodite) possesses gonadal tissue of one SEX but exhibits external PHENOTYPE of the opposite sex. Female pseudohermaphroditism is an individual with XX karyotype, normal development of OVARIES and internal reproductive tract, but with ambiguous or virilized external GENITALIA. Male pseudohermaphroditism is characterized by the presence of a Y CHROMOSOME and TESTES, but the genital tract and external genitalia are ambiguous or completely female. [from MeSH]

MedGen UID:
10991
Concept ID:
C0033804
Congenital Abnormality
4.

Female

A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI) [from NCI_CDISC]

MedGen UID:
8807
Concept ID:
C0015780
Finding
5.

Adenocarcinoma

A malignant neoplasm arising from glandular cells. [from NCI]

MedGen UID:
122
Concept ID:
C0001418
Neoplastic Process
6.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. [from ORDO]

MedGen UID:
831949
Concept ID:
CN227536
Congenital Abnormality
7.

Female pseudohermaphroditism

Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. [from HPO]

MedGen UID:
506363
Concept ID:
CN009289
Finding
8.

Congenital adrenal hyperplasia

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

MedGen UID:
506200
Concept ID:
CN007259
Finding
9.

Adrenal hyperplasia

Enlargement of the adrenal gland. [from HPO]

MedGen UID:
506187
Concept ID:
CN007224
Finding
10.

Epithelial-myoepithelial carcinoma

Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002). [from OMIM]

MedGen UID:
429765
Concept ID:
CN030217
Disease or Syndrome
11.

46, XX Disorders of Sex Development

Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical. [from MeSH]

MedGen UID:
424728
Concept ID:
C2936403
Congenital Abnormality
12.

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
13.

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
14.

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

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