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Davenport-Donlan syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0022932

An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder. [ http://www.ncbi.nlm.nih.gov/pubmed/526579 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:443971 (MONDO:equivalentTo)
  • MESH:C535988 (MONDO:equivalentTo)
  • UMLS:C2931076 (MONDO:equivalentTo)
  • Orphanet:3215 (MONDO:equivalentObsolete)
Subsets

n_of_one

comment

Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579

exactMatch

http://identifiers.org/mesh/C535988

http://linkedlifedata.com/resource/umls/id/C2931076

http://identifiers.org/medgen/443971

has related synonym

dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis

Davenport Donlan syndrome

id

MONDO:0022932

seeAlso

https://rarediseases.info.nih.gov/diseases/1672/davenport-donlan-syndrome