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1.

beta-Galactosidase

A group of enzymes that catalyzes the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-galactosides. Deficiency of beta-Galactosidase A1 may cause GANGLIOSIDOSIS, GM1. [from MeSH]

MedGen UID:
550
Concept ID:
C0005220
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
2.

Microvascular Proliferation

MedGen UID:
269057
Concept ID:
C1513287
Finding
3.

Proliferation

MedGen UID:
137720
Concept ID:
C0334094
Pathologic Function
4.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
5.

Papillary thyroid carcinoma

Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by Bonora et al., 2010). Genetic Heterogeneity of Susceptibility to Nonmedullary Thyroid Cancer Other susceptibilities to nonmedullary thyroid cancer include NMTC2 (188470), caused by mutation in the SRGAP1 gene (606523); NMTC3 (606240), mapped to chromosome 2q21; NMTC4 (616534), caused by mutation in the FOXE1 gene (602617); and NMTC5 (616535), caused by mutation in the HABP2 gene (603924). A susceptibility locus for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; 603386) has been mapped to chromosome 19p. [from OMIM]

MedGen UID:
66773
Concept ID:
C0238463
Neoplastic Process
6.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
7.

Tumorigenesis

A pathologic process that involves the transformation of normal cells to a neoplastic state and resulting in polyclonal or monoclonal neoplastic cell proliferation. [from NCI]

MedGen UID:
3302
Concept ID:
C0007621
Neoplastic Process
8.

Endoglycosidases

MedGen UID:
760845
Concept ID:
C3537242
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
9.

Lactogest

MedGen UID:
327777
Concept ID:
C1564492
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
10.

Dairyaid

MedGen UID:
289840
Concept ID:
C1564491
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
11.

Intracranial Neoplasm

A benign or malignant neoplasm that arises from or metastasizes to structures within the cranium. This includes meningeal and other tumors that occur in the spaces that surround the brain, and neoplasms of the brain. [from NCI]

MedGen UID:
287152
Concept ID:
C1527390
Neoplastic Process
12.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
13.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
14.

Ependymoastrocytoma

MedGen UID:
155907
Concept ID:
C0751677
Neoplastic Process
15.

Oligodendroglioma

A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO) [from NCI]

MedGen UID:
155550
Concept ID:
C0751396
Neoplastic Process
16.

Polar Spongioblastoma

A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity. [from NCI]

MedGen UID:
154309
Concept ID:
C0555199
Neoplastic Process
17.

Mixed oligoastrocytoma

A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid haemorrhage. [from SNOMEDCT_US]

MedGen UID:
154285
Concept ID:
C0547065
Neoplastic Process
18.

Lactrase

MedGen UID:
152475
Concept ID:
C0721296
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
19.

Lactaid

MedGen UID:
149213
Concept ID:
C0733877
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
20.

Oligodendroblastoma

An obsolete term referring to neoplasms arising from oligodendrocytes. [from NCI]

MedGen UID:
91028
Concept ID:
C0344461
Neoplastic Process
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