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Items: 15

  • The following terms were not found in MedGen: Q7.opopcapital, Cyrillicop.
1.

Blood group, ER

MedGen UID:
1814869
Concept ID:
C5703066
Body System
2.

Tapentadol response

MedGen UID:
776900
Concept ID:
CN185911
Sign or Symptom
3.

ALG1-congenital disorder of glycosylation

Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi (Schwarz et al., 2004). CDG1K is a type I CDG characterized by predominant neurologic involvement. Survival ranges from the second day of life to adulthood. The liver is affected in a minority of patients and shows hepatomegaly, edema, ascites, cholestatic jaundice, portal hypertension, and Budd-Chiari syndrome (summary by Marques-da-Silva et al., 2017). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]

MedGen UID:
419308
Concept ID:
C2931005
Disease or Syndrome
4.

Hereditary spastic paraplegia 57

An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. [from SNOMEDCT_US]

MedGen UID:
811490
Concept ID:
C3714897
Disease or Syndrome
5.

estrogen receptor status

The estrogen receptor level measured in a primary tumor or in metastases. There are essentially two distinct forms of breast cancer, one that tends to have an early onset and is characterized by an ER- status, and one that tends to have a late onset and is characterized by an ER+ status. However, these two variants tend to overlap with respect to age, so it is possible for a young woman to have a ""late-onset"" form of breast cancer and for an older woman to have an ""early-onset"" variant of the disease. [from NCI]

MedGen UID:
275841
Concept ID:
C1516974
Finding
6.

Hormone receptor-positive breast cancer

A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and is negative for expression of human epidermal growth factor receptor 2 (HER2). [from MONDO]

MedGen UID:
1825950
Concept ID:
C5442556
Neoplastic Process
7.

Triple-positive breast carcinoma

A breast carcinoma which is positive for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). [from MONDO]

MedGen UID:
1825949
Concept ID:
C5243562
Neoplastic Process
8.

Basal-like breast carcinoma

A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis. [from NCI]

MedGen UID:
770987
Concept ID:
C3642347
Neoplastic Process
9.

Luminal A breast carcinoma

A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. [from NCI]

MedGen UID:
770985
Concept ID:
C3642345
Neoplastic Process
10.

HER2 positive breast carcinoma

A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). [from NCI]

MedGen UID:
743175
Concept ID:
C1960398
Neoplastic Process
11.

Luminal B breast carcinoma

A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. [from NCI]

MedGen UID:
770986
Concept ID:
C3642346
Neoplastic Process
12.

Triple-Negative Breast Cancer Finding

Triple-negative breast cancer finding is a negative test result that occurs when the cells in the tumor of a breast cancer patient lack the receptors for both estrogen and progesterone and the human epidermal growth factor receptor 2. [from NCI]

MedGen UID:
418132
Concept ID:
C2348819
Finding
13.

Triple-negative breast cancer

The absence of staining for estrogen receptor, progesterone receptor, and hormone epidermal growth factor receptor 2 (HER2/neu). [from SNOMEDCT_US]

MedGen UID:
761659
Concept ID:
C3539878
Neoplastic Process
14.

Estrogen-receptor negative breast cancer

A subtype of breast cancer that is estrogen-receptor negative [from MONDO]

MedGen UID:
1054040
Concept ID:
CN377663
Disease or Syndrome
15.

Estrogen-receptor positive breast cancer

A subtype of breast cancer that is estrogen-receptor positive [from MONDO]

MedGen UID:
1843470
Concept ID:
C2938924
Neoplastic Process
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