has material basis in germline mutation in PEX7 rhizomelic chondrodysplasia punctata type 1 https://github.com/monarch-initiative/mondo/issues/2632 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1 https://www.malacards.org/card/rhizomelic_chondrodysplasia_punctata_type_1_2 icd11.foundation:44503513 Rcdp1 DOID:0110851 Orphanet:309789 MEDGEN:347072 rhizomelic chondrodysplasia punctata caused by mutation in PEX7 Pbd9 PBD9 RCDP1 GARD:0006049 OMIM:215100 MONDO:0008972 NANDO:1200763 rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata, type 1 PEX7 rhizomelic chondrodysplasia punctata A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause. UMLS:C1859133 peroxisome biogenesis disorder 9 rhizomelic chondrodysplasia punctata syndromic dyslipidemia peroxisome biogenesis disorder due to PEX7 defect