Merge pull request #1037 from monarch-initiative/issue-1018

add new term MONDO:0100089
monarch-initiative · Apr 3, 2020 · 5577982 · 5577982
2 parents 9410655 + 2dd8568
commit 5577982
Showing 1 changed file with 12 additions and 0 deletions.
diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo
@@ -202674,6 +202674,7 @@ xref: UMLS:C3151785 {source="NCBI:mim2gene_medline", source="MONDO:notFoundInDis
 xref: UMLS:C3550856 {source="MONDO:notFoundInDiseaseSubset", source="OMIM:300835"}
 is_a: MONDO:0016361 {source="Orphanet:363727"} ! isolated hereditary giant platelet disorder
 is_a: MONDO:0019403 {source="Orphanet:363727"} ! congenital dyserythropoietic anemia
+is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4170 {source="mim2gene_medgen"} ! GATA1
 property_value: confidence "2.692307692307692" xsd:double
 
@@ -209737,6 +209738,7 @@ xref: Orphanet:231393 {source="MONDO:equivalentTo", source="OMIM:314050"}
 xref: SCTID:718196002 {source="MONDO:kboom-pr-0.75/0.37/0.62", source="MONDO:equivalentTo"}
 xref: UMLS:C1839161 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C134941", source="OMIM:314050"}
 is_a: MONDO:0016492 {source="Orphanet:231393"} ! beta-thalassemia with other manifestations
+is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia
 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4170 {source="mim2gene_medgen"} ! GATA1
 property_value: confidence "3.0625" xsd:double
 
@@ -360795,6 +360797,7 @@ xref: UMLS:C4302508 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"
 is_a: MONDO:0010308 ! thrombocytopenia, X-linked, with or without dyserythropoietic anemia
 is_a: MONDO:0016361 {source="Orphanet:67044"} ! isolated hereditary giant platelet disorder
 is_a: MONDO:0019403 {source="Orphanet:67044", source="linkedlifedata"} ! congenital dyserythropoietic anemia
+is_a: MONDO:0100089 {source="https://github.com/monarch-initiative/mondo/issues/1018"} ! GATA1-Related X-Linked Cytopenia
 property_value: confidence "5.6923076923076925" xsd:double
 
 [Term]
@@ -429390,6 +429393,15 @@ xref: NCIT:C128379 {source="MONDO:equivalentTo"}
 is_a: MONDO:0002565 ! myelitis
 created_by: http://orcid.org/0000-0001-5208-3432
 
+[Term]
+id: MONDO:0100089
+name: GATA1-Related X-Linked Cytopenia
+def: "X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia." [https://clinicalgenome.org/affiliation/40028/, https://orcid.org/0000-0001-6964-7302, PMID:18930124, PMID:20301538, PMID:28895773]
+synonym: "GATA1-Related Cytopenia" EXACT []
+is_a: MONDO:0005570 ! hematologic disease
+relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4170 ! GATA1
+created_by: http://orcid.org/0000-0001-5208-3432
+
 [Term]
 id: MONDO:0200000
 name: uterine ligament adenosarcoma