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EBISPOT / efo

Github repo for the Experimental Factor Ontology (EFO)
https://www.ebi.ac.uk/efo/
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duplication of disease vs phenotype #750

Open zoependlington opened 4 years ago

zoependlington commented 4 years ago

central precocious puberty (EFO:0009029) is a phenotype term and central precocious puberty (MONDO:0019165) is a disease term - noted by Paula Magarinos.

See: https://github.com/EBISPOT/efo/issues/711

zoependlington commented 4 years ago

Some more potential duplicated from Paula: MONDO:0004789, HP:0030151 Cholangitis MONDO:0003432, HP:0000486 Strabismus MONDO:0020642, EFO:0008620 Polycystic Kidney Disease EFO:0003774 MONDO:0021187 Hyperlipidemia HP:0002107 MONDO:0002076 Pneumothorax HP:0002019 MONDO:0002203 Constipation MONDO:0018555 HP:0000044 Hypogonadotropic Hypogonadism MONDO:0001673 HP:0002014 Diarrhea HP:0100633 MONDO:0001409 Esophagitis MONDO:0021353 EFO:0003859 Uterine Neoplasm MONDO:0002610 HP:0000979 Purpura MONDO:0019086 EFO:0002916 Esophageal Carcinoma MONDO:0001384 HP:0000545 Myopia HP:0000217 EFO:0009869 Xerostomia HP:0004398 MONDO:0004247 Peptic Ulcer EFO:1001259 MONDO:0043479 Adenovirus Infection MONDO:0002400 EFO:0008997 Synovitis MONDO:0002465 HP:0011950 Bronchiolitis MONDO:0001566 HP:0003072 Hypercalcemia MONDO:0015492 EFO:0004826 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis EFO:0009086 MONDO:0002277 Arteriosclerosis EFO:0008519 MONDO:0010837 Primary Hyperparathyroidism EFO:1001888 MONDO:0043885 Eye Infection HP:0000540 MONDO:0004891 Hyperopia Orphanet:2495 MONDO:0016642 Meningioma MONDO:0002070 Orphanet:1480 Ventricular Septal Defect Orphanet:98578 MONDO:0000728 Ptosis Orphanet:98757 MONDO:0007182 Spinocerebellar Ataxia Type 3 MONDO:0024298 EFO:0005878 Vitamin Deficiency EFO:0003873 MONDO:0021243 Parotid Neoplasm MONDO:0002513 EFO:1000111 Benign Kidney Neoplasm

paolaroncaglia commented 4 years ago

Note, we can start by addressing duplications where at least 1 is an EFO term. Where it's Mondo vs HP, no easy resolution (find and link old Mondo-HP ticket here).

zoependlington commented 3 years ago

More to investigate (could be disease duplicates that require mappings): EFO:1000062 and MONDO:0100345 (lactose intolerance) Orphanet:98991 and MONDO:0045050 (nuclear cataract)