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nonsyndromic congenital nail disorder 3

^ http://purl.obolibrary.org/obo/MONDO_0007900

Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • DOID:0080081 (MONDO:equivalentTo)
  • GARD:0002555 (MONDO:equivalentTo)
  • SCTID:74102009 (MONDO:equivalentTo)
  • ICD9:703.8 (MONDO:relatedTo)
  • MESH:C537289 (MONDO:equivalentTo)
  • OMIM:151600 (MONDO:equivalentTo)
  • Orphanet:2387 (OMIM:151600)
Subsets

gard_rare

abbreviation
NDNC3 [ MONDO:Lexical OMIM:151600 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069, https://github.com/monarch-initiative/mondo/issues/4521

definition

Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.

exactMatch

https://omim.org/entry/151600, http://identifiers.org/snomedct/74102009, http://purl.obolibrary.org/obo/DOID_0080081, http://identifiers.org/mesh/C537289

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016471

has exact synonym

nail disorder, nonsyndromic congenital, 3, (leukonychia), inherited isolated nail anomaly caused by mutation in PLCD1, nonsyndromic congenital nail disorder type 3, nail disorder, nonsyndromic congenital, type 3, PLCD1 inherited isolated nail anomaly

has related synonym

NDNC3, porcelain nails, Gorlin Bushkell Jensen syndrome, nail disorder, nonsyndromic congenital, 3, leukonychia punctata, leukonychia totalis and/or partialis, leukonychia totalis multiple sebaceous cysts renal calculi, leukonychia Striatus

id

MONDO:0007900

seeAlso

https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome