ENPP5

ectonucleotide pyrophosphatase/phosphodiesterase family member 5
OMIM: 617001, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ENPP5 in Mendeliome


Version 2.22

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 1.0

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