punctate palmoplantar keratoderma type 1
Go to external page http://purl.obolibrary.org/obo/MONDO_0019332
Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.. [ Orphanet:79501 ]
Synonyms: PPKP1 keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Buschke-Fischer-Brauer syndrome
Term information
- Orphanet:79501 (MONDO:equivalentTo)
- MEDGEN:372099 (MONDO:equivalentTo)
- UMLS:C1835662 (MONDO:equivalentTo)
- GARD:3103 (MONDO:GARD)
- SCTID:717184007 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/6749
https://github.com/monarch-initiative/mondo/issues/6877
http://identifiers.org/medgen/372099
http://linkedlifedata.com/resource/umls/id/C1835662
http://www.orpha.net/ORDO/Orphanet_79501
http://identifiers.org/snomedct/717184007
Brauer-Buschke-Fischer syndrome
keratoderma, palmoplantar punctate type 1
punctate palmoplantar keratoderma type I
type I punctate palmoplantar keratoderma