add term dysplasia of the proximal femoral epiphyses (#7862)

* add new term

* add provenance

* add source for is_a

src/ontology/mondo-edit.obo

@@ -160198,6 +160198,7 @@ xref: SCTID:270545000 {source="DOID:14415"}
 xref: UMLS:C0023234 {source="MEDGEN:6035", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
 is_a: MONDO:0018381 {source="DOID:14415", source="GARD:0006874", source="MONDO:Redundant", source="Orphanet:2380"} ! osteochondrosis
 is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy
+is_a: MONDO:1030002 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! dysplasia of the proximal femoral epiphyses
 relationship: disease_has_feature HP:0010885 ! Avascular necrosis
 relationship: disease_has_feature MONDO:0005380 {source="DOID:14415/inferred", source="MESH:D007873/inferred", source="MONDO:Redundant", source="NCIT:C34766", source="Orphanet:2380/inferred"} ! osteonecrosis
 relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
@@ -257424,6 +257425,7 @@ xref: SCTID:254064009 {source="MONDO:equivalentTo"}
 xref: UMLS:C0432214 {source="MEDGEN:609409", source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
 is_a: MONDO:0016761 {source="Orphanet:93279"} ! spondyloepiphyseal dysplasia
 is_a: MONDO:0022800 {source="Orphanet:93279", source="PMID:31633310"} ! type 2 collagenopathy
+is_a: MONDO:1030002 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! dysplasia of the proximal femoral epiphyses
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
 
@@ -526789,6 +526791,7 @@ xref: Orphanet:86820 {source="OMIM:608805"}
 xref: UMLS:C4551562 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1639295"}
 is_a: MONDO:0012126 {source="OMIM:608805"} ! familial avascular necrosis of femoral head
 is_a: MONDO:0022800 {source="PMID:31633310"} ! type 2 collagenopathy
+is_a: MONDO:1030002 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! dysplasia of the proximal femoral epiphyses
 relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2200 {source="MONDO:mim2gene_medgen"} ! COL2A1
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4948" xsd:anyURI
@@ -573251,6 +573254,14 @@ relationship: has_characteristic MONDO:0021152 ! inherited
 property_value: http://purl.org/dc/terms/creator "https://orcid.org/0000-0002-3458-4839" xsd:string
 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6897" xsd:anyURI
 
+[Term]
+id: MONDO:1030002
+name: dysplasia of the proximal femoral epiphyses
+def: "A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1." [https://clinicalgenome.org/affiliation/40065/, https://orcid.org/0009-0003-2127-3550]
+is_a: MONDO:0022800 {source="https://clinicalgenome.org/affiliation/40065/", source="https://orcid.org/0009-0003-2127-3550"} ! type 2 collagenopathy
+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:8000000
 name: infectious discitis