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Update dyneinopathy definition, xref, and URL
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Minor updates to the definition of dyneinopathy. Removed ncbi search URL and placed PMID of genereviews. Also created a term tracker item.
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yshwetar committed Jul 11, 2024
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Expand Up @@ -574666,12 +574666,13 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/
[Term]
id: MONDO:1040031
name: dyneinopathy
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." [https://clinicalgenome.org/affiliation/40006/, https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=dync1h1, PMID:32656949, PMID:32788638, PMID:33991169]
def: "A spectrum of diseases 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." [https://clinicalgenome.org/affiliation/40006/, PMID:32656949, PMID:32788638, PMID:33991169, PMID:38513047]
is_a: MONDO:0000508 {source="PMID:32656949", source="PMID:32788638", source="PMID:33991169", source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! syndromic intellectual disability
is_a: MONDO:0019516 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! exudative vitreoretinopathy
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2961 {source="PMID:32656949", source="PMID:32788638", source="PMID:33991169", source="https://orcid.org/0000-0002-0587-4693"} ! DYNC1H1
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
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7652" xsd:anyURI

[Term]
id: MONDO:8000000
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