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Items: 7

1.

IgA nephropathy, susceptibility to, 1

MedGen UID:
463619
Concept ID:
C3160719
Finding
2.

IgA nephropathy, susceptibility to, 2

MedGen UID:
462728
Concept ID:
C3151378
Finding
3.

IgA nephropathy, susceptibility to, 3

Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene. [from MONDO]

MedGen UID:
897340
Concept ID:
C4225194
Finding
4.

Nephrotic syndrome, type 11

Nephrotic syndrome type 11 (NPHS11) is an autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype (Miyake et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]

MedGen UID:
898622
Concept ID:
C4225228
Disease or Syndrome
5.

Galloway-Mowat syndrome 7

Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). [from OMIM]

MedGen UID:
1679283
Concept ID:
C5193044
Disease or Syndrome
6.

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. [from ORDO]

MedGen UID:
355816
Concept ID:
C1866853
Disease or Syndrome
7.

IgA deposition in the glomerulus

The presence of immunoglobulin A deposits in the glomerulus. [from HPO]

MedGen UID:
892365
Concept ID:
C4025827
Finding
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