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DiseaseOntology
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HumanDiseaseOntology
Repository for the Human Disease Ontology.
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Review classification of palmoplantar keratosis and children
#1354
allenbaron
opened
21 hours ago
3
Add descriptions of subsets
#1353
allenbaron
opened
23 hours ago
1
Fanconi anemia subtypes
#1352
csbjohnson
opened
2 days ago
1
Polycystic liver disease subtypes
#1351
csbjohnson
opened
2 days ago
0
Robinow syndrome subtypes
#1350
csbjohnson
opened
1 week ago
0
Need to update OMIM susceptibilities import
#1349
allenbaron
opened
1 week ago
0
WHIM syndrome subtypes
#1348
csbjohnson
closed
2 days ago
0
Hypomagnesemia Subtypes
#1347
csbjohnson
closed
2 days ago
0
Term review request: Lesch-Nyhan syndrome
#1346
vjenkinsFB
closed
2 weeks ago
2
Missing UMLS refs
#1345
drobbarfield
opened
2 weeks ago
1
Unexpected removal of UMLS refs
#1344
drobbarfield
opened
2 weeks ago
2
More subtypes of thyroid cancer
#1343
kkrysiak
opened
2 weeks ago
2
auto brewery syndrome
#1342
lschriml
closed
2 weeks ago
2
Please revert change of DOID:0050156
#1341
sbello
opened
3 weeks ago
5
Cornelia de Lange syndrome Subtypes
#1340
csbjohnson
closed
3 weeks ago
0
Galactosemia subtypes
#1339
csbjohnson
closed
4 weeks ago
0
hypotrichosis subtypes
#1338
csbjohnson
closed
4 weeks ago
0
Episodic ataxia subtypes
#1337
csbjohnson
closed
4 weeks ago
0
Loeys-Dietz syndrome Subtypes
#1336
csbjohnson
closed
4 weeks ago
0
Orofaciodigital syndrome subtypes
#1335
csbjohnson
closed
4 weeks ago
0
Implement OMIM-to-MIM prefix change requested by OMIM
#1334
allenbaron
closed
1 month ago
0
OMIM Name Changes
#1333
csbjohnson
opened
1 month ago
2
NTR: ZTTK syndrome or Zhu-Tokita-Takenouchi-Kim syndrome
#1332
MonikaTomczuk
closed
1 month ago
1
Holoprosencephaly Subtypes
#1331
csbjohnson
closed
1 month ago
1
Polycystic kidney disease Subtypes
#1330
csbjohnson
closed
1 month ago
0
Bug in the latest DO release? Related to inferred parents
#1329
sbello
closed
1 month ago
1
Fix typos in ontology in bulk
#1328
cmdcolin
opened
1 month ago
2
New Term Request: Need terminology for "healthy" or lack of a disease
#1327
schedlbau
closed
1 month ago
1
review DOID:0111815
#1326
SianGramates
closed
1 month ago
1
review DOID:0060944
#1325
tutajm
closed
1 month ago
2
New Term Request: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
#1324
vjenkinsFB
closed
4 weeks ago
2
New Term Request: Glutamine deficiency, congenital
#1323
vjenkinsFB
closed
4 weeks ago
4
New Term Request: Neurodevelopmental disorder with microcephaly and spastic paraplegia
#1322
vjenkinsFB
closed
4 weeks ago
2
New Term Request: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
#1321
vjenkinsFB
closed
4 weeks ago
2
New Term Request: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
#1320
vjenkinsFB
closed
1 month ago
2
New Term Request: 3-hydroxyisobutryl-CoA hydrolase deficiency
#1319
vjenkinsFB
closed
1 month ago
3
New Term Request: Hypervalinemia and hyperleucine-isoleucinemia
#1318
vjenkinsFB
closed
1 month ago
3
New Term Request: Autosomal recessive intellectual developmental disorder 82
#1317
vjenkinsFB
closed
2 months ago
3
Amelogenesis imperfecta subtypes
#1316
csbjohnson
closed
2 months ago
3
New Term Request: Dimethylglycine dehydrogenase deficiency
#1315
rankishore
closed
2 months ago
1
add lead SODH
#1314
lschriml
opened
2 months ago
1
Ullrich congenital muscular dystrophy subtypes
#1313
csbjohnson
closed
2 months ago
3
Subtypes of Interstitial lung disease
#1312
csbjohnson
closed
2 months ago
2
Term Review request: mitochondrial complex IV deficiency nuclear type 17
#1311
vjenkinsFB
closed
2 months ago
2
Lisch epithelial corneal dystrophy (DOID:0060450)
#1310
sbello
closed
3 months ago
1
OMIM PS Subtypes
#1309
csbjohnson
closed
3 months ago
0
Term Review: chromosome 3-linked frontotemporal dementia
#1308
vjenkinsFB
closed
3 months ago
2
New Term Request: Large B-cell lymphoma
#1307
cstatz78
closed
1 month ago
2
NTR: Neurodevelopmental disorder with poor growth and behavioral abnormalities
#1306
MonikaTomczuk
closed
3 months ago
2
Check Orphanet cross-references for Parkinson's disease
#1305
sbello
closed
2 months ago
2
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