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1.

Segmental glomerulosclerosis

MedGen UID:
83080
Concept ID:
C0333497
Disease or Syndrome
2.

Focal segmental glomerulosclerosis

MedGen UID:
449387
Concept ID:
CN043606
Disease or Syndrome
3.

Focal segmental glomerulosclerosis

MedGen UID:
376918
Concept ID:
C1850973
4.

Progressive hereditary glomerulonephritis without deafness

MedGen UID:
98012
Concept ID:
C0403443
Disease or Syndrome
5.

Focal

In terms of cancer, limited to a specific area. [from NCI_NCI-GLOSS]

MedGen UID:
61391
Concept ID:
C0205234
Spatial Concept
6.

Glomerulosclerosis

Accumulation of scar tissue within the glomerulus. [from HPO]

MedGen UID:
61248
Concept ID:
C0178664
Disease or Syndrome
7.

Focal segmental glomerulosclerosis 1

Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; 256300), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998). D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte. Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic Syndrome Focal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (603965), caused by mutation in the TRPC6 gene (603652); FSGS3 (607832), associated with variation in the CD2AP gene (604241); FSGS4 (612551), mapped to chromosome 22q12; FSGS5 (613237), caused by mutation in the INF2 gene (610982); FSGS6 (614131), caused by mutation in the MYO1E gene (601479); FSGS7 (616002), caused by mutation in the PAX2 gene (167409); FSGS8 (616032), caused by mutation in the ANLN gene (616027); and FSGS9 (616220), caused by mutation in the CRB2 gene (609720). See also NPHS1 (256300), caused by mutation in the NPHS1 gene (602716); NPHS2 (600995), caused by mutation in the podocin gene (604766); NPHS3 (610725), caused by mutation in the PLCE1 gene (608414); and NPHS4 (256370), caused by mutation in the WT1 gene (607102). [from OMIM]

MedGen UID:
4904
Concept ID:
C0017668
Disease or Syndrome
8.

Renal insufficiency

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. [from HPO]

MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
9.

Obesity

Obesity means having too much body fat. It is different from being overweight, which means weighing too much. The weight may come from muscle, bone, fat, and/or body water. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. . Obesity occurs over time when you eat more calories than you use. The balance between calories-in and calories-out differs for each person. Factors that might affect your weight include your genetic makeup, overeating, eating high-fat foods, and not being physically active. . Being obese increases your risk of diabetes, heart disease, stroke, arthritis, and some cancers. If you are obese, losing even 5 to 10 percent of your weight can delay or prevent some of these diseases. For example, that means losing 10 to 20 pounds if you weigh 200 pounds. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
10.

Hypertension

Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
11.

Nephropathy

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

MedGen UID:
898017
Concept ID:
C1408258
Finding
12.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
13.

Kidney Transplantation

MedGen UID:
880926
Concept ID:
CN236685
Disease or Syndrome
14.

Hypertension

A finding of increased blood pressure; not necessarily hypertensive disorder [from SNOMEDCT_US]

MedGen UID:
635666
Concept ID:
C0497247
Finding
15.

Decreasing

MedGen UID:
617794
Concept ID:
C0442797
Finding; Qualitative Concept
16.

Stage 5 chronic kidney disease

A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. [from HPO]

MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome; Finding
17.

Obesity

MedGen UID:
368429
Concept ID:
C1963185
Finding
18.

Renal insufficiency

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. [from HPO]

MedGen UID:
326535
Concept ID:
C1839604
Finding
19.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI_NCI-GLOSS]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
20.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function; Qualitative Concept
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