has material basis in germline mutation in disease has feature GDF5 Micromelia acromesomelic dysplasia 2A https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/acromesomelic_dysplasia_2a acromesomelic dysplasia, Grebe type Orphanet:2098 Brazilian achondrogenesis GARD:0001300 Grebe chondrodysplasia MEDGEN:75557 chondrodysplasia, Grebe type achondrogenesis type II (formerly) Grebe dysplasia NANDO:2201346 NANDO:2201345 UMLS:C0265260 AMDG MONDO:0008703 Grebe syndrome OMIM:200700 An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. type II achondrogenesis NCIT:C3816 GREBE chondrodysplasia acromesomelic dysplasia 2A DOID:0080052 Langer-Saldino achondrogenesis achondrogenesis acromesomelic dysplasia