has material basis in germline mutation in disease has feature COL2A1 Hydrops fetalis Prominent forehead achondrogenesis type II https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/achondrogenesis_type_ii_2 MONDO:0008702 DOID:0080056 achondrogenesis, type II achondrogenesis type II UMLS:C0220685 Orphanet:93296 Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. ACG2 GARD:0008713 NANDO:2201345 MESH:C536017 MEDGEN:66315 achondrogenesis, type II or hypochondrogenesis OMIM:200610 achondrogenesis, Langer-Saldino type achondrogenesis type 2 collagenopathy