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Results: 12

1.

Adrenocortical carcinoma

A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. [from HPO]

MedGen UID:
505968
Concept ID:
CN005871
Finding
2.

Li-Fraumeni-like syndrome

MedGen UID:
382523
Concept ID:
C2675080
Disease or Syndrome
3.

Li-Fraumeni syndrome

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias. In addition, a variety of other neoplasms may occur. LFS-related cancers often occur in childhood or young adulthood and survivors have an increased risk for multiple primary cancers. Age-specific cancer risks have been calculated. [from GeneReviews]

MedGen UID:
88399
Concept ID:
C0085390
Neoplastic Process
4.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
5.

Corpus callosum agenesis

The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis. [from OMIM]

MedGen UID:
104498
Concept ID:
C0175754
Disease or Syndrome
6.

Aplasia cutis congenita

Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC. [from OMIM]

MedGen UID:
79390
Concept ID:
C0282160
Disease or Syndrome
7.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
8.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
9.

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
10.

Adenocarcinoma

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

MedGen UID:
122
Concept ID:
C0001418
Neoplastic Process
11.

Neoplasm of the adrenal cortex

The presence of a neoplasm of the adrenal cortex. [from HPO]

MedGen UID:
451929
Concept ID:
CN117533
Finding
12.

Li-Fraumeni syndrome 1

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias. In addition, a variety of other neoplasms may occur. LFS-related cancers often occur in childhood or young adulthood and survivors have an increased risk for multiple primary cancers. Age-specific cancer risks have been calculated. [from GeneReviews]

MedGen UID:
322656
Concept ID:
C1835398
Disease or Syndrome

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