diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index f71e3cb73e..211ce9a231 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -504655,6 +504655,7 @@ xref: MEDGEN:1787128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619217 {source="MONDO:equivalentTo"} xref: UMLS:C5543128 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1787128"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +is_a: MONDO:1040032 {source="https://orcid.org/0000-0001-9310-0163"} ! EN1-related dorsoventral syndrome [Term] id: MONDO:0030979 @@ -504668,6 +504669,7 @@ xref: MEDGEN:1782954 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:619218 {source="MONDO:equivalentTo"} xref: UMLS:C5543142 {source="MEDGEN:1782954", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +is_a: MONDO:1040032 {source="https://orcid.org/0000-0001-9310-0163"} ! EN1-related dorsoventral syndrome [Term] id: MONDO:0030981 @@ -518545,15 +518547,12 @@ is_a: MONDO:0003847 {source="OMIM:619318"} ! hereditary disease [Term] id: MONDO:0036192 name: obsolete EN1-related dorsoventral syndrome -subset: ordo_disorder {source="Orphanet:611223"} -synonym: "ENDOVE syndrome" EXACT [Orphanet:611223] -synonym: "ENDOVES" EXACT [Orphanet:611223] -xref: GARD:18027 {source="MONDO:obsoleteEquivalent"} -xref: Orphanet:611223 {source="MONDO:obsoleteEquivalent"} property_value: IAO:0000231 OMO:0001000 {source="MONDO:excludeGrouping"} property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5114" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6877" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7574" xsd:anyURI is_obsolete: true +replaced_by: MONDO:1040032 [Term] id: MONDO:0036193 @@ -583347,6 +583346,17 @@ property_value: http://purl.org/dc/elements/1.1/date "2024-07-01T21:00:19Z" xsd: property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7652" xsd:anyURI +[Term] +id: MONDO:1040032 +name: EN1-related dorsoventral syndrome +def: "A human mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures." [Orphanet:611223] +synonym: "ENDOVE syndrome" EXACT [Orphanet:611223] +synonym: "ENDOVES" EXACT [Orphanet:611223] +xref: GARD:18027 {source="MONDO:equivalentTo"} +xref: Orphanet:611223 {source="MONDO:equivalentTo"} +is_a: MONDO:0003847 {source="https://orcid.org/0000-0002-0587-4693"} ! hereditary disease +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7574" xsd:anyURI + [Term] id: MONDO:1040033 name: congenital muscular dystrophy without intellectual disability