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DiseaseOntology
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HumanDiseaseOntology
Repository for the Human Disease Ontology.
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Review classificiation of arrhythmogenic cardiomyopathy genetic subtypes (and Naxos disease)
#1304
allenbaron
opened
4 months ago
1
Review nomenclature updates to limb-girdle muscular dystrophies
#1303
allenbaron
opened
4 months ago
1
Infantile hypotonia with psychomotor retardation and characteristic facies-3 (IHPRF3)
#1302
anna-anagnostop
closed
4 months ago
3
Change prefix of OMIM cross-references to MIM
#1301
allenbaron
closed
1 month ago
12
cone dystrophy classification review
#1300
lschriml
opened
4 months ago
0
New Term Request: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
#1299
vjenkinsFB
closed
4 months ago
1
New Term Request: Developmental delay, dysmorphic facies, and brain anomalies
#1298
vjenkinsFB
closed
4 months ago
2
new term: X-linked hyper-IgM syndrome
#1297
KevinABurns137
closed
4 months ago
1
review Hydronephrosis
#1296
lschriml
opened
4 months ago
0
review DOID:0081427
#1295
tutajm
closed
4 months ago
2
NTR: cone-rod dystrophy 22
#1294
MonikaTomczuk
closed
2 months ago
1
NTR: cone-rod dystrophy 21
#1293
MonikaTomczuk
closed
2 months ago
2
NTR: syndromic X-linked intellectual developmental disorder brain type
#1292
MonikaTomczuk
closed
4 months ago
1
NTR: spastic tetraplegia, thin corpus callosum, and progressive microcephaly
#1291
MonikaTomczuk
closed
4 months ago
1
Add Foveal hypoplasia aka Foveal hypoplasia-presenile cataract syndrome to DO, rare syndrome
#1290
lschriml
closed
4 months ago
1
add subtypes for dystonia in OMIM PS128100
#1289
lschriml
closed
2 months ago
3
Developmental dysplasia of the hip
#1288
sbello
closed
5 months ago
1
Couple of new terms for missing OMIM diseases for the gene CACNA1C
#1287
sbello
closed
4 months ago
7
Implement automated removal of EFO xrefs for obsolete terms
#1286
allenbaron
closed
5 months ago
0
Review EFO cross-references for obsolete terms
#1285
sbello
closed
5 months ago
2
Term Review Request: distal hereditary motor neuronopathy type 2C
#1284
vjenkinsFB
closed
5 months ago
2
Foveal hypoplasia 2 or FHONDA syndrome?
#1283
MonikaTomczuk
closed
4 months ago
2
New synonym for Wolfram syndrome DOID:10632: WS
#1282
LaurensWilming
closed
5 months ago
4
Rename term renal medullary carcinoma (DOID: 0070475)
#1281
sumirp
closed
5 months ago
1
New term: arrhythmogenic biventricular cardiomyopathy
#1280
LaurensWilming
closed
4 months ago
4
Sifrim-Hitz-Weiss syndrome
#1279
sbello
closed
5 months ago
1
New Term Request: Cepacia syndrome (CS)
#1278
G-Molano-LA
closed
5 months ago
2
New Term Request: Borrelia miyamotoi disease (BMD)
#1277
G-Molano-LA
closed
5 months ago
2
Update 'peeling skin syndrome' (DOID:0060283) and add subtypes
#1276
allenbaron
closed
5 months ago
3
Schinzel-Giedion midface retraction syndrome
#1275
sbello
closed
6 months ago
1
New subtype terms
#1274
csbjohnson
closed
3 months ago
0
Add Renal Medullary Carcinoma (DOID:0070475) to Cancer Slim File
#1273
LBCorson
closed
7 months ago
1
release Nov 30, 2023 issues
#1272
tutajm
closed
7 months ago
3
New Term Request: Sarcoma with BCOR genetic alterations
#1271
LBCorson
closed
5 months ago
14
Caroli syndrome
#1270
lschriml
closed
7 months ago
1
NTR: non-syndromic X-linked intellectual developmental disorder 111
#1269
MonikaTomczuk
closed
6 months ago
2
New Term Request: Parkinsonism-dystonia, infantile, 1
#1268
vjenkinsFB
closed
7 months ago
8
New Term Request: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ~OR~ MEPAN syndrome
#1267
vjenkinsFB
closed
5 months ago
2
NTR: LIPHAK syndrome
#1266
srengel
closed
6 months ago
3
New Term Request: Epilepsy, familial focal, with variable foci 3
#1265
vjenkinsFB
closed
5 months ago
2
Need to revise the SCT Xrefs of DOID:10548 cardia cancer
#1262
linforestzhang
closed
8 months ago
1
early-onset vitamin B6-dependent epilepsy and pyridoxine-dependent epilepsy
#1261
sbello
closed
5 months ago
5
New terms to complete Proteosome-associated autoinflammatory syndrome phenotypic series
#1260
csbjohnson
closed
6 months ago
0
New Term Request: Ataxia with oculomotor apraxia type 4
#1259
vjenkinsFB
closed
8 months ago
1
New Term Request: Ataxia-telangiectasia-like disorder 1
#1258
vjenkinsFB
closed
8 months ago
1
Update to distal hereditary motor neuronopathy in OMIM
#1257
sbello
closed
5 months ago
3
Typo in readme file
#1256
daulatojha17
closed
8 months ago
2
Fixed a small typo README.md
#1255
daulatojha17
closed
4 months ago
2
NTR: Zaki Syndrome
#1254
MonikaTomczuk
closed
8 months ago
1
DOID:0080060 add SCAR synonyms
#1253
lschriml
closed
8 months ago
4
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