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Basaran Yilmaz syndrome

^ http://purl.obolibrary.org/obo/MONDO_0021979

A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. [ PMID:7577599 https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • GARD:0000833 (MONDO:equivalentTo)
  • UMLS:C2931577 (MONDO:equivalentTo)
  • MESH:C537660 (MONDO:equivalentTo)
Subsets

gard_rare

definition

A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.

exactMatch

http://linkedlifedata.com/resource/umls/id/C2931577, http://identifiers.org/mesh/C537660

has related synonym

keratoderma, hypotrichosis and leukonychia totalis

id

MONDO:0021979

seeAlso

https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome

Term relations