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Items: 1 to 20 of 47

1.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
2.

Calcinosis

Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. [from NCI]

MedGen UID:
709
Concept ID:
C0006663
Finding; Pathologic Function
3.

Vascular calcification

Abnormal calcification of the vasculature. [from HPO]

MedGen UID:
90990
Concept ID:
C0342649
Pathologic Function
4.

Obesity

A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). [from MeSH]

MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
5.

Aging

Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. This notion is supported by the observation of an aging-related accumulation in human mtDNA of oxidative and alkylation derivatives of nucleotides, of small deletions and insertions, and of large deletions, although their low frequency raises questions about their functional significance (Michikawa et al., 1999). [from GTR]

MedGen UID:
1376
Concept ID:
C0001811
Organism Function
6.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
7.

Chronic kidney disease

Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. [from NCI]

MedGen UID:
473458
Concept ID:
C1561643
Disease or Syndrome
8.

Obesity

MedGen UID:
368429
Concept ID:
C1963185
Finding
9.

Transformation

The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
10.

Chronic kidney disease

Functional anomaly of the kidney persisting for at least three months. [from HPO]

MedGen UID:
196667
Concept ID:
C0748318
Finding
11.

Linear skin defects with multiple congenital anomalies 1

Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microophthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include central nervous system involvement (e.g., structural anomalies, infantile seizures), developmental delay, heart defects (e.g., hypertrophic cardiomyopathy, oncocytic cardiomyopathy, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, preauricular pits and hearing loss, and genitourinary malformations. Inter- and intrafamilial variability is considerable. [from GTR]

MedGen UID:
163210
Concept ID:
C0796070
Congenital Abnormality; Disease or Syndrome
12.

McLeod neuroacanthocytosis syndrome

McLeod neuroacanthocytosis syndrome (designated as MLS throughout this review) is a multisystem disorder with central nervous system (CNS), neuromuscular, and hematologic manifestations in males. CNS manifestations are a neurodegenerative basal ganglia disease including (1) movement disorders, (2) cognitive alterations, and (3) psychiatric symptoms. Neuromuscular manifestations include a (mostly subclinical) sensorimotor axonopathy and muscle weakness or atrophy of different degrees. Hematologically, MLS is defined as a specific blood group phenotype (named after the first proband, Hugh McLeod) that results from absent expression of the Kx erythrocyte antigen and weakened expression of Kell blood group antigens. The hematologic manifestations are red blood cell acanthocytosis and compensated hemolysis. Allo-antibodies in the Kell and Kx blood group system can cause strong reactions to transfusions of incompatible blood and severe anemia in newborns of Kell-negative mothers. Females heterozygous for XK pathogenic variants have mosaicism for the Kell and Kx blood group antigens but usually lack CNS and neuromuscular manifestations; however, some heterozygous females may develop clinical manifestations including chorea or late-onset cognitive decline. [from GTR]

MedGen UID:
140765
Concept ID:
C0398568
Disease or Syndrome
13.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
14.

Abnormality of the kidney

An abnormality of the kidney. [from HPO]

MedGen UID:
78593
Concept ID:
C0266292
Congenital Abnormality
15.

Phosphate

Inorganic salts of phosphoric acid. [from MeSH]

MedGen UID:
18434
Concept ID:
C0031603
Inorganic Chemical; Pharmacologic Substance
16.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
17.

Lansol

MedGen UID:
775653
Concept ID:
C3661454
Organic Chemical; Pharmacologic Substance
18.

Sulfoxide

the chemical group =SO. [from CRISP]

MedGen UID:
678482
Concept ID:
C0851343
Hazardous or Poisonous Substance; Organic Chemical; Pharmacologic Substance
19.

Microcalcification

MedGen UID:
636470
Concept ID:
C0521174
Pathologic Function
20.

Tumoral calcinosis

An extremely rare benign condition characterized by large calcified periarticular soft tissue masses composed of calcium salts, usually located around large joints. Tumoral calcinosis can occur due to HYPERPHOSPHATEMIA in patients with UREMIA and/or who are undergoing RENAL DIALYSIS. [from MeSH]

MedGen UID:
452340
Concept ID:
C0263628
Disease or Syndrome
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