has characteristic has characteristic has material basis in germline mutation in ATP6V0A2 congenital disorder of glycosylation defect in V-ATPase autosomal recessive cutis laxa type 2A https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5048 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/atp6v0a2_related_cutis_laxa https://www.malacards.org/card/cutis_laxa_autosomal_recessive_type_iia autosomal recessive cutis laxa type 2A cutis laxa with bone dystrophy cutis laxa with congenital disorder of glycosylation MONDO:0018163 GARD:0001638 ARCL2A An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. UMLS:C0268355 cutis laxa, autosomal recessive, type IIA Orphanet:357058 cutis laxa with growth and developmental delay cutis laxa, autosomal recessive type 2A DOID:0070134 cutis laxa with Joint laxity and retarded development MEDGEN:82795 cutis laxa, debre type cutis laxa, autosomal recessive, type 2A OMIM:219200 obsolete congenital disorder of glycosylation-related bone disorder obsolete neurometabolic disease autosomal recessive cutis laxa type 2 congenital hereditary skin disorder osteogenesis imperfecta and a reduction of bone mineral density.