has material basis in germline mutation in ARSL X-linked chondrodysplasia punctata 1 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive https://www.malacards.org/card/chondrodysplasia_punctata_1_x_linked_recessive https://www.malacards.org/card/chondrodysplasia_punctata_brachytelephalangic_autosomal X-linked chondrodysplasia punctata caused by mutation in ARSE brachytelephalangic chondrodysplasia punctata Orphanet:79345 X-linked chondrodysplasia punctata caused by mutation in arse arylsulfatase E deficiency chondrodysplasia punctata 1 X-linked recessive GARD:0001296 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones. CDPX1 ARSE X-linked chondrodysplasia punctata arse X-linked chondrodysplasia punctata Cpxr chondrodysplasia punctata, Brachytelephalangic NANDO:2201360 chondrodysplasia punctata, brachytelephalangic chondrodysplasia punctata brachytelephalangic UMLS:C3669395 chondrodysplasia punctata, X-linked recessive, X-linked recessive MEDGEN:777171 CPXR X-linked chondrodysplasia punctata 1 chondrodysplasia punctata 1, X-linked recessive OMIM:302950 MONDO:0010555 NANDO:2201356 X-linked chondrodysplasia punctata