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DiseaseOntology
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HumanDiseaseOntology
Repository for the Human Disease Ontology.
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NTR: Zaki Syndrome
#1254
MonikaTomczuk
closed
8 months ago
1
DOID:0080060 add SCAR synonyms
#1253
lschriml
closed
8 months ago
4
Review osteosarcoma (DOID:3347) and inferred children
#1252
allenbaron
opened
8 months ago
3
Synonym for spindle cell rhabdomyosarcoma
#1251
obigriffith
closed
8 months ago
2
New Term Request: Amyotrophic lateral sclerosis type 24
#1250
vjenkinsFB
closed
8 months ago
3
Review 'mediastinal neurilemmoma' (DOID:6175) & children
#1249
allenbaron
opened
8 months ago
4
Please add pituitary blastoma to cancer slim
#1248
kkrysiak
closed
8 months ago
1
Add alias to Thyroid Gland Cancer
#1247
kkrysiak
closed
8 months ago
5
Fix Github action that updates RELEASE.md
#1246
allenbaron
closed
9 months ago
0
Nomenclature update NAFLD to MASLD, NASH to MASH liver diseases
#1245
lschriml
closed
7 months ago
3
NTR: Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome)
#1244
srengel
closed
6 months ago
2
DOID:0060859 Definition correction
#1243
csbjohnson
closed
9 months ago
0
Please look into adding these UMLS references
#1242
drobbarfield
opened
9 months ago
1
DOID:11870 Pick disease has no definition
#1241
vjenkinsFB
closed
4 months ago
4
New Term Request: Renal Medullary Carcinoma
#1240
drobbarfield
closed
9 months ago
1
NTR: diphthamide deficiency syndrome
#1239
srengel
closed
8 months ago
2
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL)
#1238
anna-anagnostop
closed
6 months ago
1
DOID IRI used for multiple diseases
#1237
allenbaron
closed
9 months ago
0
New Term Request: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
#1236
vjenkinsFB
closed
6 months ago
1
New Term Request: Parkinson’s disease 25
#1235
vjenkinsFB
closed
7 months ago
2
New Term Request: Epilepsy, early-onset, 3, with or without developmental delay
#1234
vjenkinsFB
closed
9 months ago
0
New Term Request: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
#1233
vjenkinsFB
closed
6 months ago
2
Digenic diseases continued
#1232
csbjohnson
closed
8 months ago
7
Digenic diseases review (continued)
#1231
allenbaron
closed
10 months ago
2
NTR: 'Epstein-Barr virus infection'
#1230
sebastianduesing
closed
9 months ago
8
digenic diseases review
#1229
csbjohnson
closed
10 months ago
0
multiple symmetric lipomatosis AND lipoma
#1228
sbello
closed
5 months ago
3
Possible inadvertent obsoletion of DOID:0080025, DOID:0080004, and DOID:0080035
#1227
gouttegd
closed
10 months ago
4
New digenic diseases
#1226
csbjohnson
closed
7 months ago
6
Crossreference Update
#1225
csbjohnson
closed
11 months ago
5
Term Review request: autosomal dominant intellectual developmental disorder 34
#1224
vjenkinsFB
closed
11 months ago
1
carpal tunnel syndrome
#1223
sbello
closed
11 months ago
0
Kyphosis
#1222
csbjohnson
closed
4 months ago
3
Review 'central nervous system tuberculosis' and add children
#1221
allenbaron
opened
11 months ago
2
typo in my request percolated into term, very sorry!
#1220
vjenkinsFB
closed
12 months ago
2
Digenic diseases
#1219
csbjohnson
closed
11 months ago
0
Schwannomatosis (DOID:0111252 and DOID:3204)
#1218
sbello
closed
8 months ago
3
Change auto-update of rare slim to include children of rare diseases
#1217
allenbaron
opened
1 year ago
0
New Term Request: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities --OR-- KDM6B-related neurodevelopmental disorder [name TBD]
#1216
vjenkinsFB
closed
3 months ago
4
New Terms Request: Hereditary spastic paraplegia 90A --AND-- hereditary spastic paraplegia 90B
#1215
vjenkinsFB
closed
11 months ago
2
New Term Request: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
#1214
vjenkinsFB
closed
7 months ago
2
Xanthinuria, type II
#1213
anna-anagnostop
closed
11 months ago
4
Term review request: Gaucher's disease subtypes, gene rename: GBA to GBA1
#1212
vjenkinsFB
closed
1 year ago
1
New feature suggestions
#1211
vjenkinsFB
opened
1 year ago
2
Term review request: Kyphosis
#1210
csbjohnson
closed
11 months ago
1
Some ICD-10 mappings, mostly for cancers
#1209
reality
closed
1 year ago
2
ATP6V0C variants cause a human syndrome of developmental delay, epilepsy and intellectual disability
#1208
srengel
opened
1 year ago
2
Waardenburg syndrome type 2D (DOID:0110952)
#1207
sbello
closed
1 year ago
1
OMIM has split Nemaline Myopathy 5 into 3 subtypes
#1206
sbello
closed
1 year ago
3
New rare disease disabling pansclerotic morphea
#1205
lschriml
closed
1 year ago
2
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