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Merge branch 'main' into umls_update
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‎DOreports/DO-subClassOf-anonymous.tsv‎

Lines changed: 14 additions & 6 deletions
Original file line numberDiff line numberDiff line change
@@ -372,7 +372,6 @@ DOID:0050776 non-syndromic X-linked intellectual disability 'has material basis
372372
DOID:0050777 Joubert syndrome 'disease has location' some brain
373373
DOID:0050779 hydrolethalus syndrome 'has material basis in' some 'autosomal recessive inheritance'
374374
DOID:0050781 Ogden syndrome 'has material basis in' some 'X-linked inheritance'
375-
DOID:0050786 iridogoniodysgenesis syndrome 'has material basis in' some 'autosomal dominant inheritance'
376375
DOID:0050787 juvenile polyposis syndrome 'existence starts during' some 'Young adult onset'|'has material basis in' some 'autosomal dominant inheritance'
377376
DOID:0050788 proximal symphalangism 'disease has location' some 'bone element'|'has material basis in' some 'autosomal dominant inheritance'
378377
DOID:0050789 tarsal-carpal coalition syndrome 'has material basis in' some 'autosomal dominant inheritance'
@@ -1168,6 +1167,15 @@ DOID:0061233 autosomal recessive brain small vessel disease 2B 'has material bas
11681167
DOID:0061234 brain small vessel disease 4 'has material basis in' some 'autosomal recessive inheritance'
11691168
DOID:0061235 brain small vessel disease 5 with osteoporosis 'has material basis in' some 'autosomal dominant inheritance'
11701169
DOID:0061236 brain small vessel disease 6 with leukoencephalopathy 'has material basis in' some 'autosomal dominant inheritance'
1170+
DOID:0061238 Stargardt disease 3 'has material basis in' some 'autosomal dominant inheritance'
1171+
DOID:0061239 Stargardt disease 4 'has material basis in' some 'autosomal dominant inheritance'
1172+
DOID:0061240 Stargardt disease 5 'has material basis in' some 'autosomal recessive inheritance'
1173+
DOID:0061241 Stargardt disease 1 'has material basis in' some 'autosomal recessive inheritance'
1174+
DOID:0061242 glucocorticoid deficiency 2 'has material basis in' some 'autosomal recessive inheritance'
1175+
DOID:0061243 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 'has material basis in' some 'autosomal recessive inheritance'
1176+
DOID:0061244 glucocorticoid deficiency 5 'has material basis in' some 'autosomal recessive inheritance'
1177+
DOID:0061245 periventricular nodular heterotopia 8 'has material basis in' some 'autosomal recessive inheritance'
1178+
DOID:0061246 periventricular nodular heterotopia 9 'has material basis in' some 'autosomal dominant inheritance'
11711179
DOID:0070000 3-methylglutaconic aciduria type 8 'has material basis in' some 'autosomal recessive inheritance'
11721180
DOID:0070002 3-methylglutaconic aciduria type 9 'has material basis in' some 'autosomal recessive inheritance'
11731181
DOID:0070013 Seckel syndrome 2 'has material basis in' some 'autosomal recessive inheritance'
@@ -1567,14 +1575,15 @@ DOID:0070647 hereditary spastic paraplegia 30A 'has material basis in' some 'aut
15671575
DOID:0070649 cherubism 2 'has material basis in' some 'autosomal recessive inheritance'
15681576
DOID:0070650 Ramon syndrome 'disease has feature' some 'gingival fibromatosis'|'disease has feature' some cherubism|'has material basis in' some 'autosomal recessive inheritance'
15691577
DOID:0070651 neurodevelopmental disorder with seizures and gingival overgrowth 'has material basis in' some 'autosomal recessive inheritance'
1570-
DOID:0070652 Nil-Deshwan neurodevelopmental syndrome 'has material basis in' some 'autosomal dominant inheritance'
1578+
DOID:0070652 Nil-Deshwar neurodevelopmental syndrome 'has material basis in' some 'autosomal dominant inheritance'
15711579
DOID:0070654 desmosterolosis 'has material basis in' some 'autosomal recessive inheritance'|'has phenotype' some 'Elevated circulating desmosterol concentration'
15721580
DOID:0070655 Usher syndrome type 1B 'has material basis in' some 'autosomal recessive inheritance'
15731581
DOID:0070657 congenital variant of Rett syndrome 'disease has location' some brain|'has material basis in' some 'autosomal dominant inheritance'
15741582
DOID:0070663 soft tissue sarcoma 'derives from' some 'embryonic cell (metazoa)'
15751583
DOID:0070664 oropharyngeal squamous cell carcinoma 'derives from' some 'squamous epithelial cell'
15761584
DOID:0070666 infantile myofibromatosis 1 'has material basis in' some 'autosomal dominant inheritance'
15771585
DOID:0070667 infantile myofibromatosis 2 'has material basis in' some 'autosomal dominant inheritance'
1586+
DOID:0070668 Snijders Blok-Campeau syndrome 'has material basis in' some 'autosomal dominant inheritance'
15781587
DOID:0080007 bone deterioration disease 'disease has location' some 'bone element'
15791588
DOID:0080010 bone structure disease 'has phenotype' some 'Abnormal bone structure'
15801589
DOID:0080020 Jansen's metaphyseal chondrodysplasia 'has material basis in' some 'autosomal dominant inheritance'|'has phenotype' some 'Disproportionate short-limb short stature'
@@ -1976,7 +1985,6 @@ DOID:0080689 mosaic variegated aneuploidy syndrome 3 'has material basis in' som
19761985
DOID:0080696 Winchester syndrome 'has phenotype' some Osteolysis
19771986
DOID:0080697 Opitz GBBB syndrome 'has material basis in' some 'X-linked recessive inheritance'
19781987
DOID:0080698 Teebi hypertelorism syndrome 1 'has material basis in' some 'autosomal dominant inheritance'
1979-
DOID:0080701 prothrombin thrombophilia 'has material basis in' some 'autosomal dominant inheritance'
19801988
DOID:0080714 hereditary alpha tryptasemia syndrome 'derives from' some 'mast cell'|('has material basis in' some gene) and ('has material basis in' some duplication)
19811989
DOID:0080715 developmental and epileptic encephalopathy 82 'has material basis in' some 'autosomal recessive inheritance'
19821990
DOID:0080716 infantile liver failure syndrome 'disease has location' some liver
@@ -2518,9 +2526,9 @@ DOID:0110116 autoimmune lymphoproliferative syndrome type 2B 'has material basis
25182526
DOID:0110117 autoimmune lymphoproliferative syndrome type 4 'has material basis in' some 'autosomal dominant inheritance'
25192527
DOID:0110118 Leber congenital amaurosis 16 'disease has basis in' some 'Abnormality of prenatal development or birth'|'has material basis in' some 'autosomal recessive inheritance'
25202528
DOID:0110119 autoimmune lymphoproliferative syndrome type 3 'has material basis in' some 'autosomal recessive inheritance'
2521-
DOID:0110120 Axenfeld-Rieger syndrome type 1 'disease has basis in' some structural_variant
2522-
DOID:0110121 Axenfeld-Rieger syndrome type 2 ('has material basis in' some deletion) and ('has material basis in' some chromosome)
2523-
DOID:0110122 Axenfeld-Rieger syndrome type 3 'disease has basis in' some structural_variant
2529+
DOID:0110120 Axenfeld-Rieger syndrome type 1 'disease has basis in' some structural_variant|'has material basis in' some 'autosomal dominant inheritance'
2530+
DOID:0110121 Axenfeld-Rieger syndrome type 2 'has material basis in' some 'autosomal dominant inheritance'|('has material basis in' some deletion) and ('has material basis in' some chromosome)
2531+
DOID:0110122 Axenfeld-Rieger syndrome type 3 'disease has basis in' some structural_variant|'has material basis in' some 'autosomal dominant inheritance'
25242532
DOID:0110129 Bardet-Biedl syndrome 7 'has material basis in' some 'autosomal recessive inheritance'
25252533
DOID:0110148 Charcot-Marie-Tooth disease type 1A 'has material basis in' some 'autosomal dominant inheritance'
25262534
DOID:0110149 Charcot-Marie-Tooth disease type 1F 'has material basis in' some 'autosomal dominant inheritance'|'has material basis in' some 'autosomal recessive inheritance'

‎DOreports/GARDinDO.tsv‎

Lines changed: 1 addition & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -156,7 +156,7 @@ id label xrefs
156156
"DOID:0050778" "Meckel syndrome" "GARD:3436"
157157
"DOID:0050779" "hydrolethalus syndrome" "GARD:6683"
158158
"DOID:0050782" "Zollinger-Ellison syndrome" "GARD:7918"
159-
"DOID:0050786" "iridogoniodysgenesis syndrome" "GARD:3026"
159+
"DOID:0050786" "obsolete iridogoniodysgenesis syndrome" "GARD:3026"
160160
"DOID:0050787" "juvenile polyposis syndrome" "GARD:3065"
161161
"DOID:0050788" "proximal symphalangism" "GARD:8182"
162162
"DOID:0050789" "tarsal-carpal coalition syndrome" "GARD:9225"

‎DOreports/HumanDO.tsv‎

Lines changed: 12 additions & 3 deletions
Original file line numberDiff line numberDiff line change
@@ -1078,7 +1078,7 @@ id label subClassOf
10781078
"DOID:0070113" "Niemann-Pick disease type C1" "Niemann-Pick disease"
10791079
"DOID:0070114" "Niemann-Pick disease type C2" "Niemann-Pick disease"
10801080
"DOID:7400" "Nijmegen breakage syndrome" "syndrome"
1081-
"DOID:0070652" "Nil-Deshwan neurodevelopmental syndrome" "syndrome"
1081+
"DOID:0070652" "Nil-Deshwar neurodevelopmental syndrome" "syndrome"
10821082
"DOID:0050192" "Nipah virus encephalitis" "viral infectious disease"
10831083
"DOID:3490" "Noonan syndrome" "RASopathy"
10841084
"DOID:0060578" "Noonan syndrome 1" "Noonan syndrome"
@@ -1326,13 +1326,18 @@ id label subClassOf
13261326
"DOID:0081270" "Smith-McCort dysplasia 1" "Smith-McCort dysplasia"
13271327
"DOID:0081271" "Smith-McCort dysplasia 2" "Smith-McCort dysplasia"
13281328
"DOID:13096" "Sneddon syndrome" "artery disease"
1329+
"DOID:0070668" "Snijders Blok-Campeau syndrome" "autosomal dominant intellectual developmental disorder"
13291330
"DOID:0090114" "Sorsby's fundus dystrophy" "hereditary retinal dystrophy"
13301331
"DOID:14748" "Sotos syndrome" "syndrome"
13311332
"DOID:0112103" "Sotos syndrome 1" "Sotos syndrome"
13321333
"DOID:0112102" "Sotos syndrome 2" "Sotos syndrome"
13331334
"DOID:0112104" "Sotos syndrome 3" "Sotos syndrome"
13341335
"DOID:10845" "St. Louis encephalitis" "viral infectious disease"
13351336
"DOID:0050817" "Stargardt disease" "age related macular degeneration"
1337+
"DOID:0061241" "Stargardt disease 1" "Stargardt disease"
1338+
"DOID:0061238" "Stargardt disease 3" "Stargardt disease"
1339+
"DOID:0061239" "Stargardt disease 4" "Stargardt disease"
1340+
"DOID:0061240" "Stargardt disease 5" "Stargardt disease"
13361341
"DOID:0050426" "Stevens-Johnson syndrome" "skin disease"
13371342
"DOID:0080046" "Stickler syndrome" "syndrome"
13381343
"DOID:0080676" "Stickler syndrome 1" "Stickler syndrome"
@@ -1968,6 +1973,7 @@ id label subClassOf
19681973
"DOID:1035" "aggressive NK-cell leukemia" "leukemia"
19691974
"DOID:5590" "aggressive digital papillary adenocarcinoma" "sweat gland carcinoma"
19701975
"DOID:1474" "aggressive periodontitis" "periodontitis"
1976+
"DOID:0061237" "aggressive periodontitis 1" "aggressive periodontitis"
19711977
"DOID:4798" "aggressive systemic mastocytosis" "systemic mastocytosis"
19721978
"DOID:0060341" "agnathia-otocephaly complex" "physical disorder"
19731979
"DOID:4090" "agnosia" "communication disorder"
@@ -6150,6 +6156,9 @@ id label subClassOf
61506156
"DOID:7031" "glottis squamous cell carcinoma" "glottis carcinoma"
61516157
"DOID:7583" "glottis verrucous carcinoma" "glottis squamous cell carcinoma"
61526158
"DOID:0080621" "glucocorticoid deficiency 1" "familial glucocorticoid deficiency"
6159+
"DOID:0061242" "glucocorticoid deficiency 2" "familial glucocorticoid deficiency"
6160+
"DOID:0061243" "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" "familial glucocorticoid deficiency"
6161+
"DOID:0061244" "glucocorticoid deficiency 5" "familial glucocorticoid deficiency"
61536162
"DOID:0060343" "glucocorticoid-induced osteoporosis" "osteoporosis"
61546163
"DOID:14080" "glucocorticoid-remediable aldosteronism" "primary hyperaldosteronism"
61556164
"DOID:10603" "glucose intolerance" "hyperglycemia"
@@ -7227,7 +7236,6 @@ id label subClassOf
72277236
"DOID:4630" "inverted transitional papilloma" "transitional papilloma"
72287237
"DOID:5083" "iodine hypothyroidism" "hypothyroidism"
72297238
"DOID:9383" "iridocyclitis" "anterior uveitis"
7230-
"DOID:0050786" "iridogoniodysgenesis syndrome" "iris disease"
72317239
"DOID:3478" "iris cancer" "uveal cancer"
72327240
"DOID:240" "iris disease" "uveal disease"
72337241
"DOID:6993" "iris mixed cell melanoma" "intraocular mixed cell type melanoma"
@@ -9446,6 +9454,8 @@ id label subClassOf
94469454
"DOID:3316" "perivascular tumor" "vascular cancer"
94479455
"DOID:13088" "periventricular leukomalacia" "encephalomalacia"
94489456
"DOID:0050454" "periventricular nodular heterotopia" "congenital nervous system abnormality"
9457+
"DOID:0061245" "periventricular nodular heterotopia 8" "periventricular nodular heterotopia"
9458+
"DOID:0061246" "periventricular nodular heterotopia 9" "periventricular nodular heterotopia"
94499459
"DOID:0060639" "permanent neonatal diabetes mellitus" "neonatal diabetes mellitus"
94509460
"DOID:13381" "pernicious anemia" "nutritional deficiency disease"
94519461
"DOID:6925" "peroneal nerve paralysis" "peripheral nervous system disease"
@@ -10038,7 +10048,6 @@ id label subClassOf
1003810048
"DOID:0060915" "proteosome-associated autoinflammatory syndrome 4" "proteosome-associated autoinflammatory syndrome"
1003910049
"DOID:0060919" "proteosome-associated autoinflammatory syndrome 5" "proteosome-associated autoinflammatory syndrome"
1004010050
"DOID:2235" "prothrombin deficiency" "thrombophilia"
10041-
"DOID:0080701" "prothrombin thrombophilia" "thrombophilia"
1004210051
"DOID:7008" "protoplasmic astrocytoma" "malignant astrocytoma"
1004310052
"DOID:14397" "protozoal dysentery" "dysentery"
1004410053
"DOID:0061165" "proximal renal tubular acidosis" "renal tubular acidosis"

‎DOreports/MESHinDO.tsv‎

Lines changed: 1 addition & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -596,6 +596,7 @@ id label xrefs
596596
"DOID:0070658" "alcohol-associated liver disease" "MESH:D008108"
597597
"DOID:0070659" "alpha-gal syndrome" "MESH:C000655084"
598598
"DOID:0070662" "subcutaneous panniculitis-like T-cell lymphoma" "MESH:C537503"
599+
"DOID:0070668" "Snijders Blok-Campeau syndrome" "MESH:C000729467"
599600
"DOID:0080001" "bone disease" "MESH:D001847"
600601
"DOID:0080011" "bone resorption disease" "MESH:D001862"
601602
"DOID:0080016" "spina bifida" "MESH:D016135"

‎DOreports/OMIMinDO.tsv‎

Lines changed: 15 additions & 4 deletions
Original file line numberDiff line numberDiff line change
@@ -29,7 +29,7 @@ id label xrefs
2929
"DOID:0050451" "Brugada syndrome" "MIM:PS601144"
3030
"DOID:0050452" "mevalonic aciduria" "MIM:610377"
3131
"DOID:0050453" "lissencephaly" "MIM:PS607432"
32-
"DOID:0050454" "periventricular nodular heterotopia" "MIM:300049, MIM:612881, MIM:608097, MIM:608098, MIM:615544"
32+
"DOID:0050454" "periventricular nodular heterotopia" "MIM:PS300049"
3333
"DOID:0050458" "juvenile myelomonocytic leukemia" "MIM:607785"
3434
"DOID:0050460" "Wolf-Hirschhorn syndrome" "MIM:194190"
3535
"DOID:0050461" "aspartylglucosaminuria" "MIM:208400"
@@ -211,7 +211,7 @@ id label xrefs
211211
"DOID:0050813" "spondyloepiphyseal dysplasia with congenital joint dislocations" "MIM:143095"
212212
"DOID:0050814" "temtamy preaxial brachydactyly syndrome" "MIM:605282"
213213
"DOID:0050816" "urofacial syndrome" "MIM:PS236730, MIM:615112, MIM:236730"
214-
"DOID:0050817" "Stargardt disease" "MIM:603786, MIM:600110, MIM:248200"
214+
"DOID:0050817" "Stargardt disease" "MIM:PS248200"
215215
"DOID:0050818" "transcobalamin II deficiency" "MIM:275350"
216216
"DOID:0050831" "familial encephalopathy with neuroserpin inclusion bodies" "MIM:604218"
217217
"DOID:0050833" "orotic aciduria" "MIM:258900"
@@ -1213,6 +1213,16 @@ id label xrefs
12131213
"DOID:0061234" "brain small vessel disease 4" "MIM:621313"
12141214
"DOID:0061235" "brain small vessel disease 5 with osteoporosis" "MIM:621331"
12151215
"DOID:0061236" "brain small vessel disease 6 with leukoencephalopathy" "MIM:621394"
1216+
"DOID:0061237" "aggressive periodontitis 1" "MIM:170650"
1217+
"DOID:0061238" "Stargardt disease 3" "MIM:600110"
1218+
"DOID:0061239" "Stargardt disease 4" "MIM:603786"
1219+
"DOID:0061240" "Stargardt disease 5" "MIM:621259"
1220+
"DOID:0061241" "Stargardt disease 1" "MIM:248200"
1221+
"DOID:0061242" "glucocorticoid deficiency 2" "MIM:607398"
1222+
"DOID:0061243" "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" "MIM:614736"
1223+
"DOID:0061244" "glucocorticoid deficiency 5" "MIM:617825"
1224+
"DOID:0061245" "periventricular nodular heterotopia 8" "MIM:618185"
1225+
"DOID:0061246" "periventricular nodular heterotopia 9" "MIM:618918"
12161226
"DOID:0070000" "3-methylglutaconic aciduria type 8" "MIM:617248"
12171227
"DOID:0070002" "3-methylglutaconic aciduria type 9" "MIM:617698"
12181228
"DOID:0070005" "Seckel syndrome 9" "MIM:616777"
@@ -1783,7 +1793,7 @@ id label xrefs
17831793
"DOID:0070647" "hereditary spastic paraplegia 30A" "MIM:610357"
17841794
"DOID:0070650" "Ramon syndrome" "MIM:266270"
17851795
"DOID:0070651" "neurodevelopmental disorder with seizures and gingival overgrowth" "MIM:619323"
1786-
"DOID:0070652" "Nil-Deshwan neurodevelopmental syndrome" "MIM:621265"
1796+
"DOID:0070652" "Nil-Deshwar neurodevelopmental syndrome" "MIM:621265"
17871797
"DOID:0070653" "Fliedner-Zweier syndrome" "MIM:620511"
17881798
"DOID:0070654" "desmosterolosis" "MIM:602398"
17891799
"DOID:0070655" "Usher syndrome type 1B" "MIM:276900"
@@ -1792,6 +1802,7 @@ id label xrefs
17921802
"DOID:0070662" "subcutaneous panniculitis-like T-cell lymphoma" "MIM:618398"
17931803
"DOID:0070666" "infantile myofibromatosis 1" "MIM:228550"
17941804
"DOID:0070667" "infantile myofibromatosis 2" "MIM:615293"
1805+
"DOID:0070668" "Snijders Blok-Campeau syndrome" "MIM:618205"
17951806
"DOID:0080019" "metaphyseal dysplasia" "MIM:215050"
17961807
"DOID:0080020" "Jansen's metaphyseal chondrodysplasia" "MIM:156400"
17971808
"DOID:0080021" "Schmid metaphyseal chondrodysplasia" "MIM:156500"
@@ -5279,7 +5290,7 @@ id label xrefs
52795290
"DOID:12580" "Cri-Du-Chat syndrome" "MIM:123450"
52805291
"DOID:12583" "velocardiofacial syndrome" "MIM:192430"
52815292
"DOID:12603" "acute leukemia" "MIM:308960"
5282-
"DOID:12638" "hypertrophic pyloric stenosis" "MIM:612525, MIM:179010, MIM:610260, MIM:300711, MIM:612017"
5293+
"DOID:12638" "hypertrophic pyloric stenosis" "MIM:612525, MIM:179010, MIM:300711, MIM:610260, MIM:612017"
52835294
"DOID:12642" "hiatus hernia" "MIM:142400"
52845295
"DOID:12661" "tooth ankylosis" "MIM:157950"
52855296
"DOID:1270" "hereditary hemorrhagic telangiectasia" "MIM:187300, MIM:600376, MIM:615506"

‎DOreports/OrphanetinDO.tsv‎

Lines changed: 2 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -106,7 +106,7 @@ id label xrefs
106106
"DOID:0050778" "Meckel syndrome" "ORDO:564"
107107
"DOID:0050779" "hydrolethalus syndrome" "ORDO:2189"
108108
"DOID:0050781" "Ogden syndrome" "ORDO:276432"
109-
"DOID:0050786" "iridogoniodysgenesis syndrome" "ORDO:98634"
109+
"DOID:0050786" "obsolete iridogoniodysgenesis syndrome" "ORDO:98634"
110110
"DOID:0050788" "proximal symphalangism" "ORDO:3250"
111111
"DOID:0050789" "tarsal-carpal coalition syndrome" "ORDO:1412"
112112
"DOID:0050790" "fibular hypoplasia and complex brachydactyly" "ORDO:2639"
@@ -720,6 +720,7 @@ id label xrefs
720720
"DOID:0070657" "congenital variant of Rett syndrome" "ORDO:561854"
721721
"DOID:0070662" "subcutaneous panniculitis-like T-cell lymphoma" "ORDO:86884"
722722
"DOID:0070664" "oropharyngeal squamous cell carcinoma" "ORDO:500478"
723+
"DOID:0070668" "Snijders Blok-Campeau syndrome" "ORDO:599082"
723724
"DOID:0080028" "spondyloepimetaphyseal dysplasia, Strudwick type" "ORDO:93346"
724725
"DOID:0080030" "spondyloepimetaphyseal dysplasia, Missouri type" "ORDO:93356"
725726
"DOID:0080033" "craniometaphyseal dysplasia" "ORDO:1522"

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