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Table 5 Example mappings in the Disease and Phenotype track

From: Matching disease and phenotype ontologies in the ontology alignment evaluation initiative

Entity 1 Entity 2 Rel. Source
x-linked chondrodysplasia punctata (DOID_0060292) Chondrodysplasia punctata (Orphanet_93442) (only) consensus alignment vote=2
Meningeal melanomatosis (DOID_8243) Diffuse leptomeningeal melanocytosis Consensus alignment vote=3
  (Orphanet_252031)   
Reactive arthritis (DOID_6196) Reactive arthritis (Orphanet_29207) Consensus alignment vote=3
Hypoplastic scapulae (HP_0000882) Short scapula (MP_0004340) (only) consensus alignment vote=2
Macrocytic anemia (HP_0001972) Macrocytic anemia (MP_0002811) Consensus alignment vote=3
Unerupted tooth (HP_0000706) Failure of tooth eruption (MP_0000121) Consensus alignment vote=3
Breast leiomyosarcoma (DOID_5285) Rare malignant breast tumor \(\sqsubseteq \) Manually created
  (Orphanet_180257)   
Abnormality of body weight (HP_0004323) Abnormal body weight (MP_0001259) Manually created
Microcephaly (HP_0000252) Decreased brain size (MP_0000774) AML unique mapping (correct)
Skeletal dysplasia (HP_0002652) Abnormal skeletal muscle morphology AML unique mapping (incorrect)
  (MP_0000759)   
Carbohydrate metabolism disease (DOID_0050013) Disorder of carbohydrate metabolism LogMapBio unique mapping (correct)
  (Orphanet_79161)   
Spinocerebellar ataxia type 35 (DOID_0050982) Transglutaminase 6 (Orphanet_279644) LogMapBio unique mapping (incorrect)
Female hypogonadism (HP_0000134) Small ovary (MP_0001127) PhenoMF unique mapping (correct)