diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 7a557272b..0d13d7288 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -296555,7 +296555,7 @@ property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/2578/guanidi [Term] id: MONDO:0013000 name: porphyria due to ALA dehydratase deficiency -def: "Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." [Orphanet:100924] +def: "An extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations." [https://clinicalgenome.org/affiliation/40097/, https://orcid.org/0000-0002-0587-4693] subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:16937", source="MONDO:GARD"} subset: nord_rare {source="NORD:747", source="MONDO:NORD"} @@ -296569,12 +296569,12 @@ synonym: "ALA dehydratase deficiency pophyria" RELATED [GARD:0004445] synonym: "ALAD deficiency" RELATED [OMIM:612740] synonym: "ALAD Porphyria" EXACT [NORD:747] synonym: "ALAD porphyria" EXACT [Orphanet:100924] +synonym: "ALAD-related porphyria" EXACT CLINGEN_LABEL [https://clinicalgenome.org/affiliation/40097/] synonym: "aminolevulinate dehydratase deficiency porphyria" RELATED [GARD:0004445] synonym: "Delta-aminolevulinate dehydratase deficiency" RELATED [OMIM:612740] synonym: "Doss porphyria" RELATED [OMIM:612740] synonym: "Lead poisoning, susceptibility to" RELATED [OMIM:612740] synonym: "porphobilinogen synthase deficiency" RELATED [OMIM:612740] -synonym: "porphyria due to ALA dehydratase deficiency" EXACT CLINGEN_LABEL [] synonym: "porphyria due to ALAD deficiency" EXACT [Orphanet:100924] synonym: "porphyria due to delta-aminolevulinate dehydratase deficiency" EXACT [Orphanet:100924] synonym: "porphyria of Doss" EXACT [Orphanet:100924] @@ -296592,6 +296592,7 @@ xref: UMLS:C0268328 {source="MEDGEN:78659", source="MONDO:equivalentTo", source= is_a: MONDO:0002520 {source="MESH:C562618", source="Orphanet:100924"} ! hepatic porphyria relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0013000 {source="MONDO:CLINGEN"} relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/395 {source="MONDO:mim2gene_medgen"} ! ALAD +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8036" xsd:anyURI property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria" xsd:anyURI {source="GARD:0004445"} [Term]