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add new term MONDO:0100089 #1037

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Apr 3, 2020
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add new term MONDO:0100089 #1037

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cc194a6
add new term MONDO:0100089
nicolevasilevsky Dec 13, 2019
2dd8568
add subclasses to 'GATA1-Related X-Linked Cytopenia'
nicolevasilevsky Jan 28, 2020
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12 changes: 12 additions & 0 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -202600,6 +202600,7 @@ 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

Expand Down Expand Up @@ -209671,6 +209672,7 @@ 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

Expand Down Expand Up @@ -360787,6 +360789,7 @@ 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]
Expand Down Expand Up @@ -428360,6 +428363,15 @@ synonym: "Alzheimer disease type 2" EXACT [GARD:0012799]
xref: GARD:0012799 {source="MONDO:equivalentTo"}
is_a: MONDO:0100087 ! familial Alzheimber disease

[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
Expand Down