OMIA:002973 : Rhizomelic chondrodysplasia punctata, PEX7-related

Categories: Skeleton phene (incl. short stature & teeth)

Possible human homologues (MIM numbers): 215100 (trait) , 601757 (gene)

Links to relevant human diseases in MONDO:

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

Edit History


  • Created by Imke Tammen2 on 29 Jul 2025