ENPP5

ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)
OMIM: 617001, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ENPP5 in Mendeliome


Version 1.3792

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Skeletal dysplasia, MONDO:0018230, ENPP5-related

Red ENPP5 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.364

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Skeletal dysplasia, MONDO:0018230, ENPP5-related