RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Interstitial Lung Disease Due To ABCA3 Deficiency; PRIMARY INTERSTITIAL LUNG DISEASE SPECIFIC TO CHILDHOOD DUE TO PULMONARY SURFACTANT PROTEIN ANOMALIES; Pulmonary Alveolar Proteinosis, Congenital, 3; SMDP3
ClinVar Annotator: match by OMIM:610921 ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 3 ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies