mineral metabolism disease atelosteogenesis syndromic intellectual disability atelosteogenesis type II https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6750 https://www.malacards.org/card/atelosteogenesis_type_ii GARD:0008329 UMLS:C1850554 atelosteogenesis type II AOII Orphanet:56304 atelosteogenesis type 2 AO2 SCTID:254055004 neonatal osseous dysplasia type 1 A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. ICD9:756.9 atelosteogenesis, type II atelosteogenesis II MONDO:0009727 OMIM:256050 MESH:C535395 MEDGEN:338072 multiple congenital anomalies/dysmorphic syndrome-intellectual disability inborn errors of metabolism SLC26A2-related skeletal dysplasia