osteochondrodysplasia bone dysplasia, lethal Holmgren type https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type https://www.malacards.org/card/bone_dysplasia_lethal_holmgren_type_2 autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type SCTID:732249002 Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988. bone dysplasia lethal Holmgren type OMIM:211120 MONDO:0008878 Orphanet:1842 MESH:C565896 UMLS:C1859407 MEDGEN:347872 GARD:0000922