Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 20

1.

Folliculin

MedGen UID:
148678
Concept ID:
C0700903
Hormone; Organic Chemical; Pharmacologic Substance
2.

Hip dysplasia, beukes type

Beukes hip dysplasia is characterized by severe progressive degenerative osteoarthritis of the hip joint in early adulthood, with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Symptoms of hip joint discomfort usually develop in infancy or later childhood, but may present as late as the fourth decade. Phenotypic expression is age-related and variable in severity; penetrance is incomplete and has been estimated to be 80%. The earliest primary radiographic features of BHD include bilateral shortening and broadening of the femoral neck, delayed appearance of the secondary ossification center, coxa vara, displacement of the femoral head in the acetabulum, and overgrowth of the greater trochanters. After onset of symptoms, the characteristic signs of osteoarthritis develop, including bone sclerosis, cyst formation, and narrowing of the joint space, with rapid deterioration of the joint (summary by Watson et al., 2015). [from GTR]

MedGen UID:
333593
Concept ID:
C1840572
Disease or Syndrome
3.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GTR]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
4.

Cyst

A sac-like closed membranous structure that may be empty or contain fluid or amorphous material. [from NCI]

MedGen UID:
41396
Concept ID:
C0010709
Disease or Syndrome
5.

Starvation

Lengthy and continuous deprivation of food. (Stedman, 25th ed) [from MeSH]

MedGen UID:
20944
Concept ID:
C0038187
Finding
6.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Phosphorylation

The creation of a phosphate derivative of an organic molecule. This is usually achieved by transferring a phosphate group from ATP via the action of a kinase. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
8.

Hamartoma

A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. [from NCI]

MedGen UID:
6713
Concept ID:
C0018552
Neoplastic Process
9.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
10.

Furriers lung

MedGen UID:
538594
Concept ID:
C0264476
Disease or Syndrome
11.

Coffee-workers lung

MedGen UID:
538589
Concept ID:
C0264468
Disease or Syndrome
12.

Cheese-washers lung

MedGen UID:
507549
Concept ID:
C0007969
Disease or Syndrome
13.

Tuberous sclerosis 1

Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, cephalic plaques, ungual fibromas); brain (cortical dysplasias, subependymal nodules and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability/developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM]). CNS tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death. [from GTR]

MedGen UID:
344288
Concept ID:
C1854465
Disease or Syndrome
14.

Signaling Pathway

An elaboration of the known or inferred interactions involved in a signal transduction pathway. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
15.

Renal neoplasm

A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. [from NCI]

MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
16.

Amino acid

Any organic compounds containing amino (-NH2) and carboxyl (-COOH) groups. In biochemistry, used to refer to the twenty-plus L-alpha-amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
17.

Enzyme activation

Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme. [from MeSH]

MedGen UID:
41819
Concept ID:
C0014429
Molecular Function
18.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
19.

Disease

A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. [from MeSH]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
20.

Hair and hair follicle diseases

MedGen UID:
640417
Concept ID:
C0554472
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center