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New term Dyneinopathy #7894

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merged 4 commits into from
Jul 12, 2024
Merged

New term Dyneinopathy #7894

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69a364a
New term Dyneinopathy
yshwetar Jul 1, 2024
ac7052c
Updated term dyneinopathy
yshwetar Jul 9, 2024
1cb347e
Update MONDO ID & added annotation for dyneinopathy
yshwetar Jul 11, 2024
dea9db9
Update dyneinopathy definition, xref, and URL
yshwetar Jul 11, 2024
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11 changes: 11 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -310768,6 +310768,7 @@ xref: Orphanet:284232 {source="MONDO:equivalentTo", source="OMIM:614228", source
xref: UMLS:C3280220 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:481850"}
is_a: MONDO:0015626 {source="DOID:0110175/inferred", source="MONDO:Redundant", source="OMIM:614228", source="Orphanet:284232/inferred"} ! Charcot-Marie-Tooth disease
is_a: MONDO:0018993 {source="DOID:0110175", source="Orphanet:284232"} ! Charcot-Marie-Tooth disease type 2
is_a: MONDO:1040000 ! Dyneinopathy
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intersection_of: MONDO:0015626 ! Charcot-Marie-Tooth disease
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 ! DYNC1H1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="MONDO:mim2gene_medgen"} ! DYNC1H1
Expand Down Expand Up @@ -314652,6 +314653,7 @@ xref: OMIM:614563 {source="DOID:0070043", source="MONDO:equivalentTo"}
xref: Orphanet:178469 {source="OMIM:614563"}
xref: UMLS:C3281202 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:482832"}
is_a: MONDO:0100172 {source="MONDO:Redundant", source="OMIM:614563"} ! intellectual disability, autosomal dominant
is_a: MONDO:1040000 ! Dyneinopathy
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intersection_of: MONDO:0100172 ! intellectual disability, autosomal dominant
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 ! DYNC1H1
relationship: has_characteristic HP:0000006 ! Autosomal dominant inheritance
Expand Down Expand Up @@ -574661,6 +574663,15 @@ is_a: MONDO:0022800 {source="https://clinicalgenome.org/affiliation/40065/", sou
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7379" xsd:anyURI

[Term]
id: MONDO:1040000
name: Dyneinopathy
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def: "Spectrum of disease related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes." [PMID:32656949, PMID:32788638, PMID:33991169]
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is_a: MONDO:0000508 ! syndromic intellectual disability
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is_a: MONDO:0019516 ! exudative vitreoretinopathy
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property_value: http://purl.org/dc/elements/1.1/date "2024-07-01T21:00:19Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693

[Term]
id: MONDO:8000000
name: infectious discitis
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