Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CORNEAL INTRAEPITHELIAL DYSKERATOSIS, PALMOPLANTAR HYPERKERATOSIS, LARYNGEAL DYSKERATOSIS SYNDROME
C4751001
NLRP1 Unknown — Disgenet
CORNEAL INTRAEPITHELIAL DYSKERATOSIS-PALMOPLANTAR HYPERKERATOSIS-LARYNGEAL DYSKERATOSIS SYNDROME
352662MONDO:0014089
NLRP1 Causal
23349227 27662089 31484767
ClinVar Disgenet Orphanet