{"subject": "NCBIGene:57505", "predicate": "biolink:gene_associated_with_condition", "object": "MONDO:0044970", "CLINGEN_VALIDITY_CLASSIFICATION": "Definitive", "CLINGEN_CLASSIFICATION_DATE": "2022-04-18T16:00:00.000Z", "CLINGEN_CLASSIFICATION_REPORT": "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_583e237c-18f6-4427-a04f-82ea0f020daf-2022-04-18T160000.000Z", "CLINGEN_MODE_OF_INHERITANCE": "AR", "NORMALIZED_MODE_OF_INHERITANCE": "Autosomal Recessive", "HPO_FOR_NORMALIZED_MODE_OF_INHERITANCE": "0000007", "primary_knowledge_source": "infores:clingen", "original_subject": "HGNC:21022", "original_object": "MONDO:0044970"}