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New term NDUFB11-related disorders
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Addresses part of #8253

Their is no term for X-linked sideroblastic anemia with lactic acidosis
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yshwetar committed Nov 13, 2024
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13 changes: 13 additions & 0 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -232935,6 +232935,7 @@ xref: OMIM:300952 {source="MONDO:equivalentTo"}
xref: Orphanet:2556 {source="OMIM:300952"}
xref: UMLS:C4225421 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:906997"}
is_a: MONDO:0010672 {source="DOID:0111876", source="MONDO:Redundant", source="OMIM:300952", source="Orphanet:2556/btnt"} ! linear skin defects with multiple congenital anomalies
is_a: MONDO:1040023 {source="PMID:25772934"} ! NDUFB11-related disorders
intersection_of: MONDO:0010672 ! linear skin defects with multiple congenital anomalies
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11
relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
Expand Down Expand Up @@ -241092,6 +241093,7 @@ is_a: MONDO:0000591 {source="DOID:0080198", source="MONDO:indirect"} ! intrinsic
is_a: MONDO:0004069 ! inborn mitochondrial metabolism disorder
is_a: MONDO:0004994 {source="DOID:0080198/inferred", source="MESH:C535584", source="MONDO:Redundant", source="NCIT:C45745", source="Orphanet:137675/inferred"} ! cardiomyopathy
is_a: MONDO:0016333 ! familial dilated cardiomyopathy
is_a: MONDO:1040023 {source="PMID:25921236"} ! NDUFB11-related disorders
property_value: seeAlso "https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy" xsd:anyURI {source="GARD:0009511"}

[Term]
Expand Down Expand Up @@ -496690,6 +496692,7 @@ xref: Orphanet:2609 {source="OMIM:301021"}
xref: UMLS:C4746985 {source="MEDGEN:1648313", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
is_a: MONDO:0000001 {source="OMIM:301021"} ! disease
is_a: MONDO:0100223 {source="DOID:0112098", source="OMIM:301021"} ! mitochondrial complex I deficiency, nuclear type
is_a: MONDO:1040023 {source="PMID:25772934", source="PMID:26741492", source="PMID:27102574"} ! NDUFB11-related disorders
intersection_of: MONDO:0100223 ! mitochondrial complex I deficiency, nuclear type
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11

Expand Down Expand Up @@ -586157,6 +586160,16 @@ property_value: http://purl.org/dc/elements/1.1/date "2024-07-23T20:59:58Z" 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/7831" xsd:anyURI

[Term]
id: MONDO:1040023
name: NDUFB11-related disorders
def: "A group of rare genetic conditions caused by variants in the NDUFB11 gene." [https://orcid.org/0000-0002-0587-4693, https://orcid.org/0000-001-9310-0163, PMID:25772934, PMID:25921236, PMID:26741492, PMID:27102574]
is_a: MONDO:0002254 {source="PMID:25772934", source="PMID:27102574", source="https://orcid.org/0000-0002-0587-4693"} ! syndromic disease
intersection_of: MONDO:0002254 ! syndromic disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/20372 ! NDUFB11
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/8253" xsd:string

[Term]
id: MONDO:1040024
name: myelin oligodendrocyte glycoprotein antibody-associated disease
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