add new term myopathy caused by variation in CRPPA (#6856)

* add new term myopathy caused by variation in CRPPA

- fix typos

close #6852

* fix syn scope

* add url

src/ontology/mondo-edit.obo

@@ -275593,14 +275593,13 @@ property_value: confidence "5.0" xsd:double
 
 [Term]
 id: MONDO:0013835
-name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
+name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene]
 synonym: "ISPD muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
 synonym: "MDDGA7" RELATED ABBREVIATION [MONDO:Lexical, OMIM:614643]
-synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" RELATED [OMIM:614643]
-synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7" EXACT [MONDO:Lexical, OMIM:614643]
+synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" EXACT [MONDO:Lexical, OMIM:614643]
 synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD" EXACT [MONDO:design_pattern]
-synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" RELATED [OMIM:614643]
+synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" EXACT [OMIM:614643]
 xref: DOID:0111234 {source="MONDO:equivalentTo"}
 xref: OMIM:614643 {source="MONDO:equivalentTo"}
 xref: Orphanet:899 {source="OMIM:614643", source="MONDO:relatedTo"}
@@ -454231,6 +454230,16 @@ is_a: MONDO:0020072 {source="PMID:34653789"} ! childhood-onset epilepsy syndrome
 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6621" xsd:anyURI
 
+[Term]
+id: MONDO:0100530
+name: myopathy caused by variation in CRPPA
+def: "Any myopathy in which the cause of the disease is a variation in the CRPPA gene." [https://clinicalgenome.org/affiliation/40151/]
+is_a: MONDO:0016155 {source="https://clinicalgenome.org/affiliation/40151/"} ! qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
+intersection_of: MONDO:0005336 ! myopathy
+intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/37276 ! CRPPA
+property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
+property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6852" xsd:anyURI
+
 [Term]
 id: MONDO:0200000
 name: uterine ligament adenosarcoma