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32 Open 6 Closed
32 Open 6 Closed
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Issues list

Obsoleted Goldenhar Orphacode still being returned in Orpha.net search results
#38 opened Oct 10, 2024 by peupeubangbang
Latest ORDO has some illegal chars (<0xa0>) in ICD11 mappings
#37 opened Feb 4, 2024 by matentzn
3
ObjectProperty vs AnnotationProperty ?
#36 opened Aug 2, 2022 by psiotwo
ORDO 4.0 download URLs: please provide clear text and stable URLs
#35 opened Jul 15, 2022 by matentzn
Suddenly many intermediate nodes are linked directly to "Disease"
#34 opened Mar 3, 2022 by fauman
6 labels with EN language tags in ORDO 4.0?
#33 opened Feb 17, 2022 by matentzn
question about mapping on Orphanet:300547 Autosomal recessive infantile hypercalcemia
#31 opened Oct 7, 2021 by nicolevasilevsky
Wildcards in ICD-10 codes
#30 opened Sep 6, 2021 by stefanucci-luca
question: unclassified acute myeloid leukemia
#29 opened May 5, 2021 by nicolevasilevsky
truncated def for Orphanet_93293
#28 opened Oct 15, 2020 by nicolevasilevsky
truncated def for Orphanet_941
#27 opened Oct 15, 2020 by nicolevasilevsky
truncated def for Orphanet_101082
#26 opened Oct 15, 2020 by nicolevasilevsky
Truncated definition for Orphanet:795
#25 opened Jul 9, 2020 by jamesamcl
1
split classes for Dravet syndrome
#24 opened May 27, 2020 by nicolevasilevsky
revise def of LMNA-related cardiocutaneous progeria syndrome?
#23 opened Oct 3, 2019 by nicolevasilevsky
Orphanet_156071 deleted?
#22 opened Jan 9, 2019 by zoependlington
Synonyms for Rare pervasive developmental disorder
#21 opened Dec 2, 2018 by cmungall
New term request in MONDO for Tyrosine Hydroxylase deficiency
#20 opened Nov 9, 2018 by nicolevasilevsky
classification of precocious puberty in ORDO
#19 opened Oct 30, 2018 by cmungall
Hierarchy error in ORDO holding up EFO pipeline.
#18 opened Sep 21, 2018 by zoependlington
1
myasthenic syndrome with eye involvement
#17 opened Aug 24, 2018 by cmungall
Truncated definitions
#16 opened Aug 17, 2018 by cmungall
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - place as Mild phenylketonuria?
#15 opened Jul 27, 2018 by cmungall
1
genetic bone tumor vs rare bone tumor
#13 opened Jun 22, 2018 by cmungall
2
xrefs for AOA2 / Spinocerebellar ataxia with axonal neuropathy type 2
#11 opened May 28, 2018 by cmungall
ProTip! Updated in the last three days: updated:>2024-11-05.