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Results: 5

1.

MURCS association

MedGen UID:
318715
Concept ID:
C1832817
Disease or Syndrome
2.

Aplasia

MedGen UID:
537145
Concept ID:
C0243065
Pathologic Function
3.

Renal adysplasia

Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). Genetic Heterogeneity of Renal Hypodysplasia/Aplasia RHDA2 (615721) is caused by mutation in the FGF20 gene (605558) on chromosome 8p22. [from OMIM]

MedGen UID:
301437
Concept ID:
C1619700
Congenital Abnormality
4.

Renal agenesis

MedGen UID:
98089
Concept ID:
C0426706
Finding
5.

Dysplasia

Cells that look abnormal under a microscope but are not cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function

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