Add synonyms for Fanconi Anemia

Author: matentzn

src/ontology/hp-edit.owl

@@ -91062,8 +91062,10 @@ SubClassOf(<http://purl.obolibrary.org/obo/HP_0009002> <http://purl.obolibrary.o
 # Class: <http://purl.obolibrary.org/obo/HP_0009003> (Increased subcutaneous truncal adipose tissue)
 
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0002-0736-9199>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/HP_0009003> "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.")
+AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_0009003> <https://orcid.org/0009-0001-4998-8617>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/HP_0009003> "UMLS:C1837781")
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0001-5208-3432>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/hp#layperson>) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0009003> "Increased fat below the skin in trunk")
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0009003> "Abundant adipose panniculus")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/HP_0009003> "HP:0009003")
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/HP_0009003> "Increased subcutaneous truncal adipose tissue")
 EquivalentClasses(<http://purl.obolibrary.org/obo/HP_0009003> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectIntersectionOf(<http://purl.obolibrary.org/obo/PATO_0002002> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0000052> ObjectIntersectionOf(<http://purl.obolibrary.org/obo/UBERON_0002190> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000050> <http://purl.obolibrary.org/obo/UBERON_0002100>))) ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002573> <http://purl.obolibrary.org/obo/PATO_0000460>))))
@@ -102464,6 +102466,7 @@ SubClassOf(<http://purl.obolibrary.org/obo/HP_0009929> <http://purl.obolibrary.o
 # Class: <http://purl.obolibrary.org/obo/HP_0009930> (Asymmetry of the nares)
 
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0002-0736-9199>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/HP_0009930> "Asymmetry or size difference between the left and right nostril.")
+AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_0009930> <https://orcid.org/0009-0001-4998-8617>)
 AnnotationAssertion(dcterms:creator <http://purl.obolibrary.org/obo/HP_0009930> <https://orcid.org/0000-0002-0736-9199>)
 AnnotationAssertion(dcterms:date <http://purl.obolibrary.org/obo/HP_0009930> "2009-05-05T07:06:20Z"^^xsd:dateTime)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/HP_0009930> "UMLS:C4024157")
@@ -102473,6 +102476,7 @@ AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#has
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0001-5889-4463>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/hp#layperson>) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0009930> "Unequal nostril size")
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0001-5889-4463>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/hp#layperson>) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0009930> "Uneven nostril shape")
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0001-5889-4463>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/hp#layperson>) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0009930> "Uneven nostril size")
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0009930> "Asymmetry in the implantation of nares")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/HP_0009930> "HP:0009930")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#inSubset> <http://purl.obolibrary.org/obo/HP_0009930> <http://purl.obolibrary.org/obo/hp#hposlim_core>)
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/HP_0009930> "Asymmetry of the nares")
@@ -103889,10 +103893,12 @@ SubClassOf(<http://purl.obolibrary.org/obo/HP_0010027> <http://purl.obolibrary.o
 # Class: <http://purl.obolibrary.org/obo/HP_0010028> (Bullet-shaped 1st metacarpal)
 
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0002-0736-9199>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/HP_0010028> "The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\").")
+AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_0010028> <https://orcid.org/0009-0001-4998-8617>)
 AnnotationAssertion(dcterms:creator <http://purl.obolibrary.org/obo/HP_0010028> <https://orcid.org/0009-0006-4530-3154>)
 AnnotationAssertion(dcterms:date <http://purl.obolibrary.org/obo/HP_0010028> "2009-05-27T04:24:30Z"^^xsd:dateTime)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/HP_0010028> "UMLS:C4024096")
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0001-5208-3432>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/hp#layperson>) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0010028> "Bullet-shaped 1st long bone of hand")
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/HP_0010028> "Tapered 1st metacarpal")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/HP_0010028> "HP:0010028")
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/HP_0010028> "Bullet-shaped 1st metacarpal")
 EquivalentClasses(<http://purl.obolibrary.org/obo/HP_0010028> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/BFO_0000051> ObjectIntersectionOf(<http://purl.obolibrary.org/obo/PATO_0002087> ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0000052> <http://purl.obolibrary.org/obo/UBERON_0003645>) ObjectSomeValuesFrom(<http://purl.obolibrary.org/obo/RO_0002573> <http://purl.obolibrary.org/obo/PATO_0000460>))))
@@ -111642,13 +111648,15 @@ SubClassOf(<http://purl.obolibrary.org/obo/HP_0010626> <http://purl.obolibrary.o
 # Class: <http://purl.obolibrary.org/obo/HP_0010627> (Anterior pituitary hypoplasia)
 
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0002-0538-4547>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0002-0736-9199>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/HP_0010627> "Underdevelopment of the anterior pituitary gland.")
+AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_0010627> <https://orcid.org/0009-0001-4998-8617>)
 AnnotationAssertion(dcterms:creator <http://purl.obolibrary.org/obo/HP_0010627> <https://orcid.org/0000-0002-0736-9199>)
 AnnotationAssertion(dcterms:date <http://purl.obolibrary.org/obo/HP_0010627> "2009-12-05T03:04:48Z"^^xsd:dateTime)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasAlternativeId> <http://purl.obolibrary.org/obo/HP_0010627> "HP:0008238")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/HP_0010627> "UMLS:C0948740")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/HP_0010627> "UMLS:C1859775")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0010627> "Small anterior pituitary lobe")
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0001-5208-3432>) Annotation(<http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/hp#layperson>) <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0010627> "Underdeveloped pituitary gland")
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0010627> "Hypoplastic adenohypophysis")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym> <http://purl.obolibrary.org/obo/HP_0010627> "Hypoplasia of the pituitary gland")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/HP_0010627> "HP:0010627")
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/HP_0010627> "Anterior pituitary hypoplasia")
@@ -112598,8 +112606,8 @@ AnnotationAssertion(owl:deprecated <http://purl.obolibrary.org/obo/HP_0010700> "
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <https://orcid.org/0000-0002-0736-9199>) <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/HP_0010701> "An abnormal deviation from normal levels of immunoglobulins in blood.")
 AnnotationAssertion(dcterms:creator <http://purl.obolibrary.org/obo/HP_0010701> <https://orcid.org/0000-0002-0736-9199>)
 AnnotationAssertion(dcterms:date <http://purl.obolibrary.org/obo/HP_0010701> "2010-03-22T08:17:49Z"^^xsd:dateTime)
-AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasAlternativeId> <http://purl.obolibrary.org/obo/HP_0010701> "HP:0100032")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasAlternativeId> <http://purl.obolibrary.org/obo/HP_0010701> "HP:0002961")
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasAlternativeId> <http://purl.obolibrary.org/obo/HP_0010701> "HP:0100032")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/HP_0010701> "UMLS:C1855755")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0010701> "Abnormal immunoglobulin concentration")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0010701> "Abnormal immunoglobulin level")
@@ -122907,9 +122915,11 @@ SubClassOf(<http://purl.obolibrary.org/obo/HP_0011475> <http://purl.obolibrary.o
 # Class: <http://purl.obolibrary.org/obo/HP_0011476> (Profound sensorineural hearing impairment)
 
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "HPO_CONTRIBUTOR:DDD_dfitzpatrick") <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/HP_0011476> "Complete loss of hearing related to a sensorineural defect.")
+AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_0011476> <https://orcid.org/0009-0001-4998-8617>)
 AnnotationAssertion(dcterms:creator <http://purl.obolibrary.org/obo/HP_0011476> <https://orcid.org/0000-0002-0736-9199>)
 AnnotationAssertion(dcterms:date <http://purl.obolibrary.org/obo/HP_0011476> "2012-03-31T10:21:17Z"^^xsd:dateTime)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> <http://purl.obolibrary.org/obo/HP_0011476> "UMLS:C4023338")
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_0011476> "Profound sensorineural hearing loss")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/HP_0011476> "HP:0011476")
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/HP_0011476> "Profound sensorineural hearing impairment")
 SubClassOf(<http://purl.obolibrary.org/obo/HP_0011476> <http://purl.obolibrary.org/obo/HP_0000407>)
@@ -243262,9 +243272,11 @@ SubClassOf(<http://purl.obolibrary.org/obo/HP_6000941> <http://purl.obolibrary.o
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "PMID:24362256") <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/HP_6000942> "A type of developmental undergrowth of the thumb characterized by attachment to the hand only by the skin and digital neurovascular structures.")
 AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000233> <http://purl.obolibrary.org/obo/HP_6000942> <https://github.com/obophenotype/human-phenotype-ontology/issues/10463>)
 AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_6000942> <https://orcid.org/0000-0001-8612-1062>)
+AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_6000942> <https://orcid.org/0009-0001-4998-8617>)
 AnnotationAssertion(dcterms:date <http://purl.obolibrary.org/obo/HP_6000942> "2024-07-06T11:45:23Z"^^xsd:dateTime)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_6000942> "Floating thumb")
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_6000942> "Hypoplasia of the thumb grade IV")
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_6000942> "Pouce flottant")
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/HP_6000942> "Thumb hypoplasia grade 4")
 SubClassOf(<http://purl.obolibrary.org/obo/HP_6000942> <http://purl.obolibrary.org/obo/HP_0009778>)
 
@@ -246378,7 +246390,9 @@ SubClassOf(<http://purl.obolibrary.org/obo/HP_6001251> <http://purl.obolibrary.o
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "PMID:6869501") <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/HP_6001252> "The creases (wrinkles) on the soles of the feet are less pronounced than normal, or absent.")
 AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000233> <http://purl.obolibrary.org/obo/HP_6001252> <https://github.com/obophenotype/human-phenotype-ontology/issues/8012>)
 AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_6001252> <https://orcid.org/0000-0002-0736-9199>)
+AnnotationAssertion(dcterms:contributor <http://purl.obolibrary.org/obo/HP_6001252> <https://orcid.org/0009-0001-4998-8617>)
 AnnotationAssertion(dcterms:date <http://purl.obolibrary.org/obo/HP_6001252> "2025-05-03T09:32:30Z"^^xsd:dateTime)
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/HP_6001252> "Effaced plantar creases")
 AnnotationAssertion(rdfs:comment <http://purl.obolibrary.org/obo/HP_6001252> "This finding may be seen in premature infants and in some conditions such as GFRA1-related Apert syndrome, renal hypodysplasia/aplasia 4, and Atelis syndrome 2.")
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/HP_6001252> "Reduced plantar creases")
 SubClassOf(<http://purl.obolibrary.org/obo/HP_6001252> <http://purl.obolibrary.org/obo/HP_0100872>)