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Items: 1 to 20 of 43

1.

Complete deafness

Total inability to hear sounds in one or both ears. [from NCI]

MedGen UID:
108418
Concept ID:
C0581883
Disease or Syndrome; Finding
2.

Sensory ataxia

Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. [from HPO]

MedGen UID:
66020
Concept ID:
C0240991
Sign or Symptom
3.

Insulinoma

A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. [from HPO]

MedGen UID:
43907
Concept ID:
C0021670
Neoplastic Process
4.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
5.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
6.

Insulin

Insulin (51 aa, ~6 kDa) is encoded by the human INS gene. This protein is involved in the direct regulation of glucose metabolism. [from NCI]

MedGen UID:
5827
Concept ID:
C0021641
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
7.

Deafness

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
8.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. (NCI) [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
9.

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
10.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
5453
Concept ID:
C0018772
Finding
11.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
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.

Disorder of glucose metabolism

Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM. [from MeSH]

MedGen UID:
226229
Concept ID:
C1257958
Disease or Syndrome
14.

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
Organism Attribute
15.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
16.

Mutagenesis Process

OBSOLETE. The process by which genetic material undergoes a detectable and heritable structural change. There are three categories of mutation: genome mutations, involving addition or subtraction of one or more whole chromosomes; chromosome mutations, which alter the structure of chromosomes; and gene mutations, where the structure of a gene is altered at the molecular level. [ISBN:0198506732] [from GO]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
17.

Salivary Gland Monomorphic Adenoma

A benign epithelial neoplasm arising from the salivary glands. It is characterized by the presence of a monomorphic cellular infiltrate. [from NCI]

MedGen UID:
64421
Concept ID:
C0205649
Neoplastic Process
18.

Microcystic Adenoma

A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia. [from NCI]

MedGen UID:
64420
Concept ID:
C0205648
Neoplastic Process
19.

Follicular adenoma

MedGen UID:
61429
Concept ID:
C0205647
Neoplastic Process
20.

Trabecular Adenoma

A benign epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern. [from NCI]

MedGen UID:
60000
Concept ID:
C0205651
Neoplastic Process
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