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Items: 1 to 20 of 28

1.

Alzheimer disease

MedGen UID:
1461959
Concept ID:
CN807353
Disease or Syndrome
2.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
3.

Ameliorated by

An ameliorating factor is defined as an external factor that leads to the manifestation of a sign or symptom in a person improving or becoming more bearable. [from HPO]

MedGen UID:
83049
Concept ID:
C0332161
Qualitative Concept
4.

Alzheimer disease

Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., =2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [from OMIM]

MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
5.

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
6.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
7.

Ependymoastrocytoma

MedGen UID:
155907
Concept ID:
C0751677
Neoplastic Process
8.

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
9.

Ependymoblastoma

MedGen UID:
152150
Concept ID:
C0700367
Neoplastic Process
10.

Peripheral neuroepithelioma

The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous tumors that are characterized by nonrandom chromosomal translocations involving the EWS gene on chromosome 22q12 and one of several members of the ETS family of transcription factors. The tumors include Ewing sarcoma, peripheral neuroepithelioma, and Askin tumor. In approximately 90% of cases of ESFT, the FLI1 gene (193067) on chromosome 11 is the fusion partner of EWS; in approximately 10%, the EWS fusion partner is the ERG gene (165080) on chromosome 22. Many other ETS family members have been identified as fusion partners of EWS, but these cases are rare (Khoury, 2005). [from OMIM]

MedGen UID:
151926
Concept ID:
C0684337
Neoplastic Process
11.

Spongioblastoma [obs]

MedGen UID:
137785
Concept ID:
C0334584
Neoplastic Process
12.

Astroblastoma

A rare glial neoplasm more commonly found in young adults. It is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. The cells have broad, non-tapering processes radiating towards a central blood vessel. The biologic behavior of astroblastomas is variable, so no WHO grade has been established, yet. (Adapted from WHO.) [from NCI]

MedGen UID:
90811
Concept ID:
C0334587
Neoplastic Process
13.

Medulloepithelioma

MedGen UID:
87272
Concept ID:
C0334596
Neoplastic Process
14.

Primitive neuroectodermal tumor

MedGen UID:
64627
Concept ID:
C0206663
Neoplastic Process
15.

Neuroepithelial neoplasm

MedGen UID:
60215
Concept ID:
C0206715
Neoplastic Process
16.

Neuroectodermal neoplasm

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
17.

Embryonal neoplasm

MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
18.

Neuroblastoma

ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood. [from GeneReviews]

MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
19.

Nervous tissue neoplasm

MedGen UID:
14324
Concept ID:
C0027665
Neoplastic Process
20.

Neoplasms, Glandular and Epithelial

Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue. [from MeSH]

MedGen UID:
10217
Concept ID:
C0027660
Neoplastic Process
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