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merge erythrokeratoderma variabilis progressiva (#7294)
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* merge erythrokeratoderma variabilis progressiva

close #6534

* fix obs reason

* revise syns
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@nicolevasilevsky
nicolevasilevsky authored Feb 16, 2024
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Showing 1 changed file with 25 additions and 29 deletions.
54 changes: 25 additions & 29 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -382635,23 +382635,11 @@ is_obsolete: true

[Term]
id: MONDO:0017681
name: erythrokeratoderma variabilis progressiva
def: "A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP." [Orphanet:308166]
comment: Reason: duplicate. This will be merged with MONDO:0017851 erythrokeratodermia variabilis
subset: disease_grouping
subset: gard_rare {source="GARD:10923"}
subset: nord_rare {source="MONDO:NORD"}
subset: obsoletion_candidate
subset: ordo_group_of_disorders {source="Orphanet:308166"}
subset: orphanet_rare {source="Orphanet:308166"}
subset: rare
xref: GARD:10923 {source="Orphanet:308166"}
xref: ICD10CM:Q82.8 {source="Orphanet:308166", source="Orphanet:308166/attributed", source="Orphanet:308166/ntbt"}
xref: Orphanet:308166 {source="MONDO:equivalentTo"}
is_a: MONDO:0019270 {source="Orphanet:308166"} ! erythrokeratoderma
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
name: obsolete erythrokeratoderma variabilis progressiva
property_value: IAO:0000231 MONDO:TermsMerged
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6534" xsd:anyURI
property_value: IAO:0006012 "2023-11-01" xsd:string
is_obsolete: true
replaced_by: MONDO:0017851

[Term]
id: MONDO:0017682
Expand Down Expand Up @@ -385908,42 +385896,47 @@ property_value: confidence "0.12499999999999978" xsd:double
id: MONDO:0017851
name: erythrokeratodermia variabilis
def: "A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema." [https://orcid.org/0000-0001-5208-3432, NCIT:C84696]
subset: disease_grouping
subset: gard_rare {source="GARD:16528", source="GARD:18639"}
subset: gard_rare {source="GARD:10923"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disease {source="Orphanet:317", source="Orphanet:316"}
subset: ordo_group_of_disorders {source="Orphanet:308166"}
subset: orphanet_rare {source="Orphanet:317", source="Orphanet:316"}
subset: orphanet_rare {source="Orphanet:308166"}
subset: rare
synonym: "Darier-Gottron disease" RELATED [Orphanet:316]
synonym: "Darier-Gottron disease" EXACT [Orphanet:316]
synonym: "EKV" EXACT ABBREVIATION [Orphanet:317]
synonym: "EKVP" RELATED ABBREVIATION [MONDO:Lexical, OMIM:133200]
synonym: "erythrokeratodermia Figurata variabilis" EXACT [DOID:0050467]
synonym: "erythrokeratodermia Figurata, congenital familial, in plaques" RELATED [OMIM:133200]
synonym: "erythrokeratodermia figurata, congenital familial, in plaques" RELATED [GARD:0003096, MESH:C536154]
synonym: "erythrokeratodermia progressiva symmetrica" RELATED [Orphanet:316]
synonym: "erythrokeratodermia figurata variabilis" EXACT [DOID:0050467]
synonym: "erythrokeratodermia figurata, congenital familial, in plaques" RELATED [GARD:0003096, MESH:C536154, OMIM:133200]
synonym: "erythrokeratodermia progressiva symmetrica" EXACT [Orphanet:316]
synonym: "erythrokeratodermia variabilis" EXACT CLINGEN_LABEL [OMIM:133200]
synonym: "erythrokeratodermia variabilis ET progressiva" RELATED [MONDO:Lexical, OMIM:133200]
synonym: "erythrokeratodermia variabilis with erythema Gyratum Repens" RELATED [OMIM:133200]
synonym: "erythrokeratodermia variabilis with erythema gyratum repens" RELATED [GARD:0003096, MESH:C536154]
synonym: "erythrokeratodermia variabilis, Mendes da Costa type" EXACT [Orphanet:317]
synonym: "erythrokeratodermia, progressive symmetric" RELATED [OMIM:133200]
synonym: "Greither disease" RELATED EXCLUDE [DOID:0050467]
synonym: "Greither's disease" RELATED [GARD:0003096]
synonym: "Greither's disease" RELATED EXCLUDE [GARD:0003096]
synonym: "keratoderma palmoplantaris transgrediens" RELATED [GARD:0003096]
synonym: "keratosis extremitatum hereditaria progrediens" RELATED [GARD:0003096]
synonym: "keratosis palmoplantaris transgrediens Et progrediens" RELATED [OMIM:133200]
synonym: "keratosis palmoplantaris transgrediens et progrediens" RELATED [GARD:0003096, MESH:C536154]
synonym: "progressive symmetric erythrokeratodermia" RELATED [Orphanet:316]
synonym: "progressive symmetric erythrokeratodermia, Gottron type" RELATED [Orphanet:316]
synonym: "keratosis palmoplantaris transgrediens et progrediens" RELATED [GARD:0003096, MESH:C536154, OMIM:133200]
synonym: "progressive symmetric erythrokeratodermia" EXACT [Orphanet:316]
synonym: "progressive symmetric erythrokeratodermia, Gottron type" EXACT [Orphanet:316]
xref: DOID:0050467 {source="MONDO:equivalentTo"}
xref: GARD:10923 {source="Orphanet:308166"}
xref: GARD:16528 {source="Orphanet:317"}
xref: GARD:18639 {source="Orphanet:316"}
xref: ICD10CM:Q82.8 {source="Orphanet:316/attributed", source="Orphanet:316/ntbt", source="Orphanet:317/attributed", source="Orphanet:317/ntbt", source="Orphanet:317", source="Orphanet:316"}
xref: ICD10CM:Q82.8 {source="Orphanet:308166", source="Orphanet:308166/attributed", source="Orphanet:308166/ntbt"}
xref: MedDRA:10049048 {source="Orphanet:317", source="Orphanet:317/e"}
xref: MESH:C536154 {source="MONDO:equivalentTo"}
xref: MESH:D056266 {source="DOID:0050467", source="MONDO:equivalentTo"}
xref: MESH:D056266 {source="DOID:0050467", source="MONDO:equivalentTo", source="MONDO:preferredExternal"}
xref: NCIT:C84696 {source="DOID:0050467", source="MONDO:equivalentTo"}
xref: NORD:1285 {source="MONDO:NORD"}
xref: OMIMPS:133200 {source="MONDO:equivalentTo"}
xref: Orphanet:308166 {source="MONDO:equivalentTo"}
xref: Orphanet:316 {source="MONDO:equivalentTo", source="OMIM:133200"}
xref: Orphanet:317 {source="MONDO:equivalentTo", source="MONDO:preferredExternal", source="OMIM:133200"}
xref: Orphanet:495 {source="OMIM:133200", source="GARD:0003096"}
Expand All @@ -385953,9 +385946,12 @@ xref: UMLS:C0265961 {source="DOID:0050467", source="Orphanet:317", source="MONDO
xref: UMLS:C1851479 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:133200"}
xref: UMLS:C1851480 {source="DOID:0050467", source="MONDO:notFoundInDiseaseSubset", source="OMIM:133200"}
is_a: MONDO:0017666 {source="MONDO:0020094-obsoleted"} ! diffuse palmoplantar keratoderma
is_a: MONDO:0019270 {source="Orphanet:308166"} ! erythrokeratoderma
relationship: excluded_subClassOf MONDO:0009490 {source="MESH:C536154", source="https://orcid.org/0000-0001-5208-3432"} ! Papillon-Lefevre disease
relationship: excluded_subClassOf MONDO:0017681 {source="Orphanet:316", source="Orphanet:317", source="https://orcid.org/0000-0001-5208-3432"} ! erythrokeratoderma variabilis progressiva
relationship: excluded_subClassOf MONDO:0017681 {source="Orphanet:316", source="Orphanet:317", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete erythrokeratoderma variabilis progressiva
relationship: has_characteristic MONDO:0021136 {source="MONDO:0015946"} ! rare
relationship: has_characteristic MONDO:0021152 {source="OMIMPS:133200"} ! inherited
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6534" xsd:anyURI
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens" xsd:anyURI {source="GARD:0003096"}

[Term]
Expand Down Expand Up @@ -389276,7 +389272,7 @@ xref: ICD10CM:H90.5 {source="Orphanet:330029", source="Orphanet:330029/attribute
xref: Orphanet:330029 {source="MONDO:equivalentTo"}
xref: UMLS:CN204237 {source="MONDO:equivalentTo"}
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
relationship: excluded_subClassOf MONDO:0017681 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! erythrokeratoderma variabilis progressiva
relationship: excluded_subClassOf MONDO:0017681 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete erythrokeratoderma variabilis progressiva
relationship: excluded_subClassOf MONDO:0019285 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic nail anomaly
relationship: excluded_subClassOf MONDO:0019589 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete syndromic genetic hearing loss
relationship: excluded_subClassOf MONDO:0021034 {source="Orphanet:330029", source="https://orcid.org/0000-0001-5208-3432"} ! obsolete hereditary alopecia
Expand Down

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