disease has feature Inguinal hernia mineral metabolism disease achondrogenesis type IB https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6755 https://www.malacards.org/card/achondrogenesis_type_ib_2 UMLS:C0265274 achondrogenesis, type IB achondrogenesis Ib DOID:0080055 Fraccaro achondrogenesis MONDO:0010966 Orphanet:93298 OMIM:600972 achondrogenesis, Parenti-Fraccaro type MEDGEN:78547 achondrogenesis type IB Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. GARD:0000460 ACG1B inborn errors of metabolism achondrogenesis SLC26A2-related skeletal dysplasia