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Update porphyria due to ALA dehydratase deficiency (#8394)
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* Update porphyria due to ALA dehydratase deficiency

Closes #8036

Updated the ClinGen preferred label to match the ClinGen IEM GCEPs current request. Updated definition, is essentially the same as the previous without typos or use of DALAD (submitter mentions this is an antiquated term). Included term tracker as well

* Remove rare labels for Keratoconus

Closes #8068

According to literature, keratoconus is not a rare disease (as high as 5% population has this disease). Removed rare labels. Added item tracker

* updates a few things as described in the comments

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Co-authored-by: Sabrina Toro <[email protected]>
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yshwetar and sabrinatoro authored Nov 14, 2024
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Showing 1 changed file with 3 additions and 2 deletions.
5 changes: 3 additions & 2 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -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"}
Expand All @@ -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]
Expand All @@ -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]
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