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ORDO
Orphanet Rare Diseases Ontology
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Obsoleted Goldenhar Orphacode still being returned in Orpha.net search results
#38
peupeubangbang
opened
1 month ago
0
Latest ORDO has some illegal chars (`<0xa0>`) in ICD11 mappings
#37
matentzn
opened
10 months ago
3
ObjectProperty vs AnnotationProperty ?
#36
psiotwo
opened
2 years ago
0
ORDO 4.0 download URLs: please provide clear text and stable URLs
#35
matentzn
opened
2 years ago
0
Suddenly many intermediate nodes are linked directly to "Disease"
#34
fauman
opened
2 years ago
0
6 labels with EN language tags in ORDO 4.0?
#33
matentzn
opened
2 years ago
0
ORDO 3.2 contains unparseable annotation (illegal OWL)
#32
matentzn
closed
2 years ago
2
question about mapping on Orphanet:300547 Autosomal recessive infantile hypercalcemia
#31
nicolevasilevsky
opened
3 years ago
0
Wildcards in ICD-10 codes
#30
stefanucci-luca
opened
3 years ago
0
question: unclassified acute myeloid leukemia
#29
nicolevasilevsky
opened
3 years ago
0
truncated def for Orphanet_93293
#28
nicolevasilevsky
opened
4 years ago
0
truncated def for Orphanet_941
#27
nicolevasilevsky
opened
4 years ago
0
truncated def for Orphanet_101082
#26
nicolevasilevsky
opened
4 years ago
0
Truncated definition for Orphanet:795
#25
jamesamcl
opened
4 years ago
1
split classes for Dravet syndrome
#24
nicolevasilevsky
opened
4 years ago
0
revise def of LMNA-related cardiocutaneous progeria syndrome?
#23
nicolevasilevsky
opened
5 years ago
0
Orphanet_156071 deleted?
#22
zoependlington
opened
5 years ago
0
Synonyms for Rare pervasive developmental disorder
#21
cmungall
opened
6 years ago
0
New term request in MONDO for Tyrosine Hydroxylase deficiency
#20
nicolevasilevsky
opened
6 years ago
0
classification of precocious puberty in ORDO
#19
cmungall
opened
6 years ago
0
Hierarchy error in ORDO holding up EFO pipeline.
#18
zoependlington
opened
6 years ago
1
myasthenic syndrome with eye involvement
#17
cmungall
opened
6 years ago
0
Truncated definitions
#16
cmungall
opened
6 years ago
0
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - place as Mild phenylketonuria?
#15
cmungall
opened
6 years ago
1
change label of hereditary fructose intolerance to Fructosemia – HFI
#14
nicolevasilevsky
closed
6 years ago
3
genetic bone tumor vs rare bone tumor
#13
cmungall
opened
6 years ago
2
definition for Focal, segmental or multifocal dystonia
#12
cmungall
closed
6 years ago
1
xrefs for AOA2 / Spinocerebellar ataxia with axonal neuropathy type 2
#11
cmungall
opened
6 years ago
0
Suggest revising def for Orphanet:1866 'focal, segmental or multifocal dystonia'
#10
nicolevasilevsky
closed
4 years ago
3
Orphanet:2346 Angioosteohypertrophic syndrome and Orphanet:90308 Klippel-Trenaunay syndrome should be merged
#9
nicolevasilevsky
opened
6 years ago
2
typo in Autosomal dominant complex spastic paraplegia type 9B?
#8
nicolevasilevsky
closed
2 years ago
3
issues with Genetic renal tumor
#7
nicolevasilevsky
opened
6 years ago
0
Issue with classification of Orphanet:812 and Orphanet:87876
#6
nicolevasilevsky
opened
6 years ago
0
ORDO constitutional vs acquired alplastic anemia
#5
nicolevasilevsky
opened
6 years ago
0
paroxysmal nocturnal hemoglobinuria incorrectly classified as inborn error of metabolism
#4
cmungall
opened
6 years ago
0
dual classification of Acrokeratoelastoidosis of Costa as acquired and inherited
#3
cmungall
opened
6 years ago
0
not all vascular tumors are embryonic developmental defects
#2
cmungall
opened
6 years ago
1
Cerebroretinal vasculopathy (Orphanet:3421) obsoletion status
#1
cmungall
closed
6 years ago
2