Add congenital amegakaryocytic thrombocytopenia 2 and update congenit…

…al amegakaryocytic thrombocytopenia

Issue #1402

src/ontology/doid-edit.owl

@@ -134,7 +134,6 @@ Declaration(Class(obo:DOID_0050001))
 Declaration(Class(obo:DOID_0050002))
 Declaration(Class(obo:DOID_0050003))
 Declaration(Class(obo:DOID_0050004))
-Declaration(Class(obo:DOID_0051000))
 Declaration(Class(obo:DOID_0050007))
 Declaration(Class(obo:DOID_0050009))
 Declaration(Class(obo:DOID_0050010))
@@ -1059,6 +1058,7 @@ Declaration(Class(obo:DOID_0050996))
 Declaration(Class(obo:DOID_0050997))
 Declaration(Class(obo:DOID_0050998))
 Declaration(Class(obo:DOID_0050999))
+Declaration(Class(obo:DOID_0051000))
 Declaration(Class(obo:DOID_0060000))
 Declaration(Class(obo:DOID_0060001))
 Declaration(Class(obo:DOID_0060002))
@@ -1981,6 +1981,7 @@ Declaration(Class(obo:DOID_0061001))
 Declaration(Class(obo:DOID_0061002))
 Declaration(Class(obo:DOID_0061003))
 Declaration(Class(obo:DOID_0061004))
+Declaration(Class(obo:DOID_0061005))
 Declaration(Class(obo:DOID_0070000))
 Declaration(Class(obo:DOID_0070001))
 Declaration(Class(obo:DOID_0070002))
@@ -15919,16 +15920,6 @@ AnnotationAssertion(rdfs:label obo:DOID_0050004 "seminal vesicle acute gonorrhea
 SubClassOf(obo:DOID_0050004 obo:DOID_10400)
 SubClassOf(obo:DOID_0050004 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000006))
 
-# Class: obo:DOID_0051000 (autoinflammatory disease)
-
-AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/") obo:IAO_0000115 obo:DOID_0051000 "A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation.")
-AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051000 "disease_ontology")
-AnnotationAssertion(oboInOwl:id obo:DOID_0051000 "DOID:0051000")
-AnnotationAssertion(rdfs:label obo:DOID_0051000 "autoinflammatory disease"@en)
-SubClassOf(obo:DOID_0051000 obo:DOID_612)
-SubClassOf(obo:DOID_0051000 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000061))
-SubClassOf(obo:DOID_0051000 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000613))
-
 # Class: obo:DOID_0050007 (obsolete cutaneous strongyloidiasis)
 
 AnnotationAssertion(obo:IAO_0000115 obo:DOID_0050007 "A strongyloidiasis that involves parasitic infection by the filariform larvae of Strongyloides stercoralis, which penetrate the human skin causing urticarial rashes in the buttocks and waist areas."@en)
@@ -28018,6 +28009,16 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0050999 "DOID:0050999")
 AnnotationAssertion(rdfs:label obo:DOID_0050999 "autosomal recessive spinocerebellar ataxia 10"@en)
 SubClassOf(obo:DOID_0050999 obo:DOID_0050950)
 
+# Class: obo:DOID_0051000 (autoinflammatory disease)
+
+AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://www.autoimmuneinstitute.org/articles/autoimmune-vs-autoinflammatory-disease/") obo:IAO_0000115 obo:DOID_0051000 "A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation.")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051000 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0051000 "DOID:0051000")
+AnnotationAssertion(rdfs:label obo:DOID_0051000 "autoinflammatory disease"@en)
+SubClassOf(obo:DOID_0051000 obo:DOID_612)
+SubClassOf(obo:DOID_0051000 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000061))
+SubClassOf(obo:DOID_0051000 ObjectSomeValuesFrom(obo:RO_0002452 obo:SYMP_0000613))
+
 # Class: obo:DOID_0060000 (infective endocarditis)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis") Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infective_endocarditis") obo:IAO_0000115 obo:DOID_0060000 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents."@en)
@@ -41826,7 +41827,7 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061002 "MIM:620481")
 AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061002 "disease_ontology")
 AnnotationAssertion(oboInOwl:id obo:DOID_0061002 "DOID:0061002")
 AnnotationAssertion(rdfs:label obo:DOID_0061002 "congenital amegakaryocytic thrombocytopenia 2"@en)
-SubClassOf(obo:DOID_0061002 obo:DOID_1588)
+SubClassOf(obo:DOID_0061002 obo:DOID_0090118)
 SubClassOf(obo:DOID_0061002 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
 # Class: obo:DOID_0061003 (pancreatic agenesis 1)
@@ -41849,6 +41850,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061004 "poor metabolism of thiopurines
 SubClassOf(obo:DOID_0061004 obo:DOID_0080172)
 SubClassOf(obo:DOID_0061004 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
 
+# Class: obo:DOID_0061005 (congenital amegakaryocytic thrombocytopenia 1)
+
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/16351641/") obo:IAO_0000115 obo:DOID_0061005 "A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34.")
+AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061005 "MIM:604498")
+AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061005 "disease_ontology")
+AnnotationAssertion(oboInOwl:id obo:DOID_0061005 "DOID:0061005")
+AnnotationAssertion(rdfs:label obo:DOID_0061005 "congenital amegakaryocytic thrombocytopenia 1"@en)
+SubClassOf(obo:DOID_0061005 obo:DOID_0090118)
+SubClassOf(obo:DOID_0061005 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
+
 # Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
 
 AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."@en)
@@ -68181,10 +68192,9 @@ SubClassOf(obo:DOID_0090117 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
 
 # Class: obo:DOID_0090118 (congenital amegakaryocytic thrombocytopenia)
 
-AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29191945") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29384262") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/604498") obo:IAO_0000115 obo:DOID_0090118 "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34."@en)
+AnnotationAssertion(Annotation(dc:type obo:ECO_0007636) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29191945") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/29384262") Annotation(oboInOwl:hasDbXref "url:https://www.omim.org/entry/604498") obo:IAO_0000115 obo:DOID_0090118 "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers."@en)
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090118 "GARD:640")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090118 "MESH:C535982")
-AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090118 "MIM:604498")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090118 "NCI:C115207")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090118 "ORDO:3319")
 AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0090118 "SNOMEDCT_US_2023_03_01:716336002")