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Davenport-Donlan syndrome

^ 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. [ PMID:526579 ]

Term info

database cross reference
  • UMLS:C2931076 (MONDO:equivalentTo)
  • GARD:0001672 (MONDO:equivalentTo)
  • Orphanet:3215 (MONDO:equivalentObsolete)
  • MESH:C535988 (MONDO:equivalentTo)
Subsets

gard_rare, 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

definition

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.

exactMatch

http://identifiers.org/mesh/C535988, http://linkedlifedata.com/resource/umls/id/C2931076

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