Skip to content

Commit

Permalink
obsolete MONDO:0008597 'otrichorhinophalangeal syndrome, type III' (#…
Browse files Browse the repository at this point in the history 
…8378)

* obsolete MONDO:0008597 'otrichorhinophalangeal syndrome, type III'

* update synonym scope for ~type 1

---------

Co-authored-by: Sabrina Toro <[email protected]>
  • Loading branch information
@twhetzel @sabrinatoro
twhetzel and sabrinatoro authored Nov 14, 2024
1 parent 911ab30 commit 2290a8b
Showing 1 changed file with 18 additions and 26 deletions.
44 changes: 18 additions & 26 deletions src/ontology/mondo-edit.obo
View file
Original file line number Diff line number Diff line change
Expand Up @@ -179374,13 +179374,15 @@ subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "Giedion syndrome" RELATED [GARD:0007800]
synonym: "Sugio-Kajii syndrome" EXACT [DOID:14743]
synonym: "trichorhinophalangeal dysplasia type I" RELATED [DOID:14743, MTH:NOCODE]
synonym: "trichorhinophalangeal syndrome type 1" RELATED [GARD:0007800]
synonym: "trichorhinophalangeal dysplasia (syndrome) types 1/3" EXACT [PMID:28426188]
synonym: "trichorhinophalangeal dysplasia type I" EXACT [DOID:14743, MTH:NOCODE]
synonym: "trichorhinophalangeal dysplasia types 1/3" EXACT [PMID:28426188]
synonym: "trichorhinophalangeal syndrome type 1" EXACT [GARD:0007800]
synonym: "trichorhinophalangeal syndrome type I" EXACT CLINGEN_LABEL []
synonym: "trichorhinophalangeal syndrome, type 1" RELATED [OMIM:190350]
synonym: "trichorhinophalangeal syndrome, type I" RELATED [MONDO:Lexical, OMIM:190350]
synonym: "TRPS 1" RELATED [OMIM:190350]
synonym: "TRPS1" RELATED ABBREVIATION [MONDO:Lexical, OMIM:190350]
synonym: "trichorhinophalangeal syndrome, type 1" EXACT [OMIM:190350]
synonym: "trichorhinophalangeal syndrome, type I" EXACT [MONDO:Lexical, OMIM:190350]
synonym: "TRPS 1" EXACT [OMIM:190350]
synonym: "TRPS1" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190350]
synonym: "type I trichorhinophalangeal syndrome" EXACT [DOID:14743]
synonym: "type III trichorhinophalangeal syndrome" EXACT [DOID:14743]
xref: DOID:14743 {source="MONDO:equivalentTo"}
Expand All @@ -179407,40 +179409,30 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/

[Term]
id: MONDO:0008597
name: trichorhinophalangeal syndrome, type III
def: "A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature." [https://orcid.org/0000-0002-6601-2165, PMID:4025405]
comment: Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: trichorhinophalangeal syndrome type I-MONDO:0008596
subset: gard_rare {source="GARD:7802", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD", source="NORD:1789"}
subset: obsoletion_candidate
subset: otar {source="MONDO:OTAR"}
subset: rare
name: obsolete trichorhinophalangeal syndrome, type III
def: "OBSOLETE. A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature." [https://orcid.org/0000-0002-6601-2165, PMID:4025405]
synonym: "Sugio-Kajii syndrome" RELATED [OMIM:190351]
synonym: "trichorhinophalangeal syndrome type 3" EXACT [GARD:0007802]
synonym: "Trichorhinophalangeal Syndrome Type III" EXACT [NORD:1789]
synonym: "trichorhinophalangeal syndrome, type 3" EXACT [MONDO:Lexical]
synonym: "trichorhinophalangeal syndrome, type III" EXACT [OMIM:190351]
synonym: "TRPS 3" EXACT [GARD:0007802]
synonym: "TRPS3" EXACT ABBREVIATION [MONDO:Lexical, OMIM:190351]
xref: DOID:0080376 {source="MONDO:equivalentTo"}
xref: DOID:0080376 {source="MONDO:obsoleteEquivalent"}
xref: GARD:7802 {source="MONDO:GARD"}
xref: MEDGEN:349899 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
xref: MESH:C566033 {source="MONDO:equivalentTo"}
xref: MEDGEN:349899 {source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"}
xref: MESH:C566033 {source="MONDO:obsoleteEquivalent"}
xref: NORD:1789 {source="MONDO:NORD"}
xref: OMIM:190351 {source="MONDO:equivalentTo"}
xref: OMIM:190351 {source="MONDO:obsoleteEquivalent"}
xref: Orphanet:77258 {source="OMIM:190351"}
xref: UMLS:C1860823 {source="MEDGEN:349899", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000426 {source="DOID:0080376"} ! autosomal dominant disease
is_a: MONDO:0002254 {source="https://orcid.org/0000-0001-5208-3432"} ! syndromic disease
is_a: MONDO:0017951 {source="OMIM:190351", source="https://orcid.org/0000-0002-4142-7153", source="https://orcid.org/0000-0002-5002-8648"} ! trichorhinophalangeal syndrome
is_a: MONDO:0019695 {source="PMID:31633310"} ! acromelic dysplasia
relationship: has_characteristic HP:0000006 {source="MONDO:HPOA", source="OMIM:190351"} ! Autosomal dominant inheritance
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/12340 {source="MONDO:mim2gene_medgen"} ! TRPS1
xref: UMLS:C1860823 {source="MEDGEN:349899", source="MONDO:obsoleteEquivalent", source="MONDO:MEDGEN"}
property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeHistoricalDisease"}
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6749" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6878" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8122" xsd:anyURI
property_value: IAO:0006012 "2024-11-01" xsd:string
is_obsolete: true
consider: MONDO:0008596

[Term]
id: MONDO:0008598
Expand Down

0 comments on commit 2290a8b

Please sign in to comment.