JSON

hydrocephalus-blue sclerae-nephropathy syndrome

^ http://purl.obolibrary.org/obo/MONDO_0016350

Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. [ Orphanet:2186 ]

Term info

database cross reference
  • MESH:C535768 (MONDO:equivalentTo)
  • Orphanet:2186 (MONDO:equivalentTo)
  • GARD:0000236 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4328

definition

Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.

exactMatch

http://identifiers.org/mesh/C535768, http://purl.obolibrary.org/obo/Orphanet_2186

has exact synonym

familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome, hydrocephalus blue sclera nephropathy, Daentl-Townsend-Siegel syndrome

id

MONDO:0016350

seeAlso

https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome