Merge branch 'master' into issue_add-snomed-mappings

src/ontology/mondo-edit.obo

@@ -310813,6 +310813,7 @@ 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:1040031 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/40063/"} ! dyneinopathy
 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
@@ -314699,6 +314700,7 @@ 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:1040031 {source="https://clinicalgenome.org/affiliation/40006/", source="https://clinicalgenome.org/affiliation/400063/"} ! dyneinopathy
 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
@@ -574774,6 +574776,17 @@ 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:1040031
+name: dyneinopathy
+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
 name: infectious discitis