disease has feature Cataract Seizure Rhizomelia eye disorder rhizomelic chondrodysplasia punctata https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata https://www.malacards.org/card/rhizomelic_chondrodysplasia_punctata Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. MONDO:0015776 DOID:2580 rhizomelic dwarfism NCIT:C85047 SCTID:56692003 OMIMPS:215100 ICD10CM:E71.540 rhizomelic chondrodysplasia punctata syndrome RCDP UMLS:C0282529 Orphanet:177 rhizomelic chondrodysplasia punctata GARD:0013160 MESH:D018902 icd11.foundation:260357080 MEDGEN:79471 disorder of plasmalogens biosynthesis chondrodysplasia punctata