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Items: 10

1.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
2.

Basal cell carcinoma

The presence of a basal cell carcinoma of the skin. [from HPO]

MedGen UID:
505327
Concept ID:
CN002427
Finding
3.

Carcinoma, Basal Cell

A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471) [from MeSH]

MedGen UID:
2870
Concept ID:
C0007117
Neoplastic Process
4.

Neoplasm of the skin

A tumor (abnormal growth of tissue) of the skin. [from HPO]

MedGen UID:
428780
Concept ID:
CN007095
Finding
5.

Fair hair

A lesser degree of hair pigmentation than would otherwise be expected. [from HPO]

MedGen UID:
500923
Concept ID:
CN002075
Finding
6.

Basal cell carcinoma 2

MedGen UID:
442769
Concept ID:
C2751606
Neoplastic Process
7.

Basal cell carcinoma 3

MedGen UID:
414419
Concept ID:
C2751605
Neoplastic Process
8.

Basal cell carcinoma 4

MedGen UID:
414061
Concept ID:
C2751602
Neoplastic Process
9.

Basal cell carcinoma 5

MedGen UID:
414060
Concept ID:
C2751601
Neoplastic Process
10.

Skin/hair/eye pigmentation, variation in, 1

Genetic Heterogeneity of Variation in Skin/Hair/Eye Pigmentation Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (266300) is determined by variation at the MC1R locus (155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (601800) encompasses pigment variation influenced by the TYR gene (606933); SHEP4 (113750), that influenced by the SLC24A5 gene (609802). Variation in the SLC45A2 (606202) and SLC24A4 (609840) genes result in the phenotypic associations SHEP5 (227240) and SHEP6 (210750), respectively. Sequence variation thought to affect expression of KITLG (184745) results in the SHEP7 (611664) phenotypic association. SHEP8 (611724) is associated with variation in the IRF4 gene (601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (600201) influences the SHEP9 association (611742). The SHEP10 association (612267) comprises variation in the TPCN2 gene (612163), and SHEP11 (612271) is associated with polymorphism near the TYRP1 gene (115501). [from OMIM]

MedGen UID:
347326
Concept ID:
C1856895
Finding
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