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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Add Orphanet terms as phenotypes in HPO? #7470

Closed nicolevasilevsky closed 2 years ago

nicolevasilevsky commented 2 years ago

These were terms from Orphanet that seemed out of scope for HPO. Consider adding these as phenotypes to HPO.

Term ID Term label
MONDO:0035541 split cord malformation type II
MONDO:0035542 split cord malformation
MONDO:0021690 congenital left ventricular aneurysm
MONDO:0032011 biological anomaly
MONDO:0033900 rare capillary malformation with associated anomalies
MONDO:0034667 longitudinal limb defect
MONDO:0034668 terminal transverse limb defect
MONDO:0034678 mirror-image polydactyly
MONDO:0034733 cochlear nerve deficiency
MONDO:0034979 peripapillary staphyloma
MONDO:0034981 optic disc pit
MONDO:0035249 anomalous aortic origin of the left coronary artery
MONDO:0035250 anomalous aortic origin of the right coronary artery
MONDO:0035251 anomalous aortic origin of coronary artery
MONDO:0035252 anomalous origin of coronary artery from the pulmonary artery
MONDO:0035267 quadricuspid aortic valve
MONDO:0035274 anomaly of the coronary ostia
MONDO:0035448 aprosencephaly/atelencephaly spectrum
MONDO:0035557 intermediate atrioventricular septal defect
MONDO:0035554 complete atrioventricular septal defect without ventricular hypoplasia
MONDO:0035555 partial atrioventricular septal defect with ventricular hypoplasia
MONDO:0035556 partial atrioventricular septal defect without ventricular hypoplasia
MONDO:0035581 lethal brain and heart developmental defects
MONDO:0034980 isolated megalopapilla
MONDO:0035781 non-syndromic anorectal malformation with rectourethral fistula
MONDO:0035780 non-syndromic anorectal malformation with perineal fistula
MONDO:0035784 non-syndromic anorectal malformation with rectovesical fistula
MONDO:0035785 non-syndromic anorectal malformation with vestibular fistula
MONDO:0035786 non-syndromic cloacal malformation
MONDO:0035787 non-syndromic anorectal malformation without fistula
MONDO:0035788 non-syndromic anorectal malformation with anal stenosis
MONDO:0035789 non-syndromic anorectal malformation with pouch colon
MONDO:0035790 non-syndromic anorectal malformation with rectal atresia
MONDO:0035791 non-syndromic anorectal malformation with rectal stenosis
MONDO:0035792 non-syndromic anorectal malformation with rectovaginal fistula
MONDO:0035793 non-syndromic anorectal malformation with h-type fistula

Related to https://github.com/monarch-initiative/mondo/issues/4776

pnrobinson commented 2 years ago

Thanks @nicolevasilevsky I think that nearly of these items (those that are phenotypes) are already in the HPO but we should add the following two items

pnrobinson commented 2 years ago

done, thanks!