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hydrocephalus-blue sclerae-nephropathy syndrome

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:236 (MONDO:GARD)
  • MESH:C535768 (MONDO:equivalentTo)
  • UMLS:C2931014 (MONDO:equivalentTo)
  • Orphanet:2186 (MONDO:equivalentTo)
  • MEDGEN:418960 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_2186

http://identifiers.org/mesh/C535768

http://identifiers.org/medgen/418960

http://linkedlifedata.com/resource/umls/id/C2931014

id

MONDO:0016350

seeAlso

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

term tracker item

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