has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of GBA1 glucosylceramidase activity Gaucher disease perinatal lethal https://github.com/monarch-initiative/mondo/issues/6749 https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal https://www.malacards.org/card/gaucher_disease_perinatal_lethal_2 MONDO:0011945 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0003-4830-7530) Gaucher disease perinatal lethal Gaucher disease, collodion type Gaucher disease collodion type Orphanet:85212 Gaucher's disease perinatal lethal Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). Gaucher disease, perinatal-lethal form SCTID:870313002 fetal Gaucher disease MEDGEN:374996 OMIM:608013 MESH:C564306 UMLS:C1842704 DOID:0110960 foetal Gaucher disease GARD:0010675 perinatal lethal Gaucher disease Gaucher disease, perinatal lethal Gaucher disease