OMIA:002958 : Rhizomelic chondrodysplasia punctata, GNPAT-related

Categories: Skeleton phene (incl. short stature & teeth) , Growth / size / body region phene

Possible human homologues (MIM numbers): 602744 (gene) , 222765 (trait)

Species in which this phene is found:
taurine cattle (Bos taurus)

Edit History


  • Created by Imke Tammen2 on 05 May 2025