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 |
| Â | (Orphanet_252031) | Â | Â |
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 |
| Â | (Orphanet_180257) | Â | Â |
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) |
| Â | (MP_0000759) | Â | Â |
Carbohydrate metabolism disease (DOID_0050013) | Disorder of carbohydrate metabolism | ≡ | LogMapBio unique mapping (correct) |
| Â | (Orphanet_79161) | Â | Â |
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) |