Skip to content

Commit

Permalink
DO December 2024 release
Browse files Browse the repository at this point in the history
  • Loading branch information
@allenbaron
allenbaron committed Dec 19, 2024
1 parent 0d89488 commit 121555b
Show file tree
Hide file tree
Showing 165 changed files with 16,713 additions and 3,216 deletions.
1 change: 1 addition & 0 deletions DOreports/DO-equivalentClass.tsv
View file
Original file line number Diff line number Diff line change
Expand Up @@ -635,6 +635,7 @@ DOID:7635 Gasserian ganglion meningioma meningioma and ('disease has location' s
DOID:7696 lung hilum cancer cancer and ('disease has location' some 'lung hilus')
DOID:77 gastrointestinal system disease disease and ('disease has location' some 'digestive system')
DOID:771 retinal cell cancer cancer and ('disease has location' some 'retinal cell')
DOID:7757 childhood leukemia leukemia and ('existence starts during' some 'Childhood onset')
DOID:780 placenta disease disease and ('disease has location' some placenta)
DOID:786 laryngeal disease disease and ('disease has location' some larynx)
DOID:7959 duodenal gastrinoma gastrinoma and ('disease has location' some duodenum)
Expand Down
33 changes: 25 additions & 8 deletions DOreports/DO-subClassOf-anonymous.tsv
View file
Original file line number Diff line number Diff line change
Expand Up @@ -446,6 +446,13 @@ DOID:0050995 episodic ataxia type 7 'has symptom' some 'muscle weakness'
DOID:0050996 episodic ataxia type 8 'has symptom' some 'muscle weakness'
DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 'has material basis in' some 'autosomal recessive inheritance'
DOID:0051000 autoinflammatory disease 'has symptom' some fever|'has symptom' some inflammation
DOID:0051001 congenital dyserythropoietic anemia type IIIb 'has material basis in' some 'autosomal recessive inheritance'
DOID:0051003 congenital nonspherocytic hemolytic anemia 1 'has material basis in' some 'X-linked inheritance'
DOID:0051004 congenital nonspherocytic hemolytic anemia 3 'has material basis in' some 'autosomal recessive inheritance'
DOID:0051005 congenital nonspherocytic hemolytic anemia 4 'has material basis in' some 'autosomal recessive inheritance'
DOID:0051006 congenital nonspherocytic hemolytic anemia 5 'has material basis in' some 'autosomal recessive inheritance'
DOID:0051007 congenital nonspherocytic hemolytic anemia 8 'has material basis in' some 'autosomal recessive inheritance'
DOID:0051008 congenital nonspherocytic hemolytic anemia 9 'has material basis in' some 'X-linked recessive inheritance'
DOID:0060000 infective endocarditis 'has material basis in' some Bacteria|'has material basis in' some Fungi|'has symptom' some inflammation
DOID:0060001 withdrawal disorder 'has disease driver' some alcohol
DOID:0060010 Omenn syndrome 'has symptom' some diarrhea|'has symptom' some hepatosplenomegaly
Expand Down Expand Up @@ -788,6 +795,7 @@ DOID:0060805 Prieto syndrome 'has material basis in' some 'X-linked recessive in
DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type 'has material basis in' some 'X-linked recessive inheritance'
DOID:0060812 syndromic X-linked intellectual disability Siderius type 'has material basis in' some 'X-linked recessive inheritance'
DOID:0060814 Wilson-Turner syndrome 'has material basis in' some 'X-linked recessive inheritance'
DOID:0060815 Wieacker-Wolff syndrome 'has material basis in' some 'X-linked recessive inheritance'
DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type 'has symptom' some 'progressive weakness'
DOID:0060825 Christianson syndrome 'has material basis in' some 'X-linked dominant inheritance'
DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 'has symptom' some 'heart failure'
Expand Down Expand Up @@ -915,6 +923,16 @@ DOID:0061011 craniosynostosis 3 'has material basis in' some 'autosomal dominant
DOID:0061012 craniosynostosis 4 'has material basis in' some 'autosomal dominant inheritance'
DOID:0061013 ovarian dysgenesis 9 'has material basis in' some 'autosomal recessive inheritance'
DOID:0061014 ovarian dysgenesis 10 'has material basis in' some 'autosomal recessive inheritance'
DOID:0061015 female-restricted Wieacker-Wolff syndrome 'has material basis in' some 'X-linked dominant inheritance'
DOID:0061016 combined or isolated pituitary growth hormone deficiency 7 'has material basis in' some 'autosomal recessive inheritance'
DOID:0061017 combined pituitary hormone deficiency 4 'has material basis in' some 'autosomal dominant inheritance'
DOID:0061018 combined or isolated pituitary hormone deficiency 8 'has material basis in' some 'autosomal dominant inheritance'
DOID:0061019 combined or isolated pituitary hormone deficiency 1 'has material basis in' some 'autosomal dominant inheritance'|'has material basis in' some 'autosomal recessive inheritance'
DOID:0061020 combined pituitary hormone deficiency 2 'has material basis in' some 'autosomal recessive inheritance'
DOID:0061021 combined pituitary hormone deficiency 3 'has material basis in' some 'autosomal recessive inheritance'
DOID:0061022 combined pituitary hormone deficiency 6 'has material basis in' some 'autosomal dominant inheritance'
DOID:0061023 nonphotosensitive trichothiodystrophy 8 'has material basis in' some 'autosomal recessive inheritance'
DOID:0061024 nonphotosensitive trichothiodystrophy 9 'has material basis in' some 'autosomal recessive inheritance'
DOID:0070000 3-methylglutaconic aciduria type 8 'has material basis in' some 'autosomal recessive inheritance'
DOID:0070002 3-methylglutaconic aciduria type 9 'has material basis in' some 'autosomal recessive inheritance'
DOID:0070014 autosomal dominant dyskeratosis congenita 1 'has material basis in' some 'autosomal dominant inheritance'
Expand Down Expand Up @@ -1320,7 +1338,7 @@ DOID:0080047 pseudoachondroplasia 'has material basis in' some 'autosomal domina
DOID:0080050 acromesomelic dysplasia, Maroteaux type 'disease has location' some 'vertebral column'|'disease has location' some limb|'has material basis in' some 'autosomal recessive inheritance'
DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type 'has material basis in' some 'autosomal recessive inheritance'
DOID:0080052 acromesomelic dysplasia, Grebe type 'has material basis in' some 'autosomal recessive inheritance'
DOID:0080053 Albright's hereditary osteodystrophy 'has symptom' some 'short stature'
DOID:0080053 pseudohypoparathyroidism type 1A 'disease has location' some foot|'disease has location' some hand|'has symptom' some 'short stature'
DOID:0080054 achondrogenesis type IA 'disease has location' some 'vertebral column'|'has material basis in' some 'autosomal recessive inheritance'
DOID:0080055 achondrogenesis type IB 'has material basis in' some 'autosomal recessive inheritance'
DOID:0080056 achondrogenesis type II 'disease has location' some ('vertebral column' or 'bony pelvis')|'has material basis in' some 'autosomal dominant inheritance'
Expand Down Expand Up @@ -2768,7 +2786,7 @@ DOID:0111073 progressive familial heart block 'has symptom' some 'abdominal pain
DOID:0111074 progressive familial heart block type IA 'has material basis in' some 'autosomal dominant inheritance'
DOID:0111075 progressive familial heart block type II 'has material basis in' some 'autosomal dominant inheritance'|'has symptom' some 'sinus bradycardia'
DOID:0111076 progressive familial heart block type IB 'has material basis in' some 'autosomal dominant inheritance'
DOID:0111077 pyruvate kinase deficiency of red cells 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111077 congenital nonspherocytic hemolytic anemia 2 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111078 tibial muscular dystrophy 'disease has location' some tibia|'has material basis in' some 'autosomal dominant inheritance'
DOID:0111080 Fanconi anemia complementation group V 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111081 Fanconi anemia complementation group T 'has material basis in' some 'autosomal recessive inheritance'
Expand Down Expand Up @@ -2966,8 +2984,8 @@ DOID:0111395 mucopolysaccharidosis type IIIA 'has material basis in' some 'autos
DOID:0111396 congenital dyserythropoietic anemia type I 'disease has basis in' some 'Abnormality of prenatal development or birth'
DOID:0111397 congenital dyserythropoietic anemia type Ib 'disease has basis in' some 'Abnormality of prenatal development or birth'|'has material basis in' some 'autosomal recessive inheritance'
DOID:0111398 congenital dyserythropoietic anemia type Ia 'disease has basis in' some 'Abnormality of prenatal development or birth'|'has material basis in' some 'autosomal recessive inheritance'
DOID:0111399 congenital dyserythropoietic anemia type III 'disease has basis in' some 'Abnormality of prenatal development or birth'
DOID:0111400 congenital dyserythropoietic anemia type IV 'disease has basis in' some 'Abnormality of prenatal development or birth'|'has material basis in' some 'autosomal dominant inheritance'
DOID:0111399 congenital dyserythropoietic anemia type IIIa 'disease has basis in' some 'Abnormality of prenatal development or birth'|'has material basis in' some 'autosomal dominant inheritance'
DOID:0111400 congenital dyserythropoietic anemia type IVa 'disease has basis in' some 'Abnormality of prenatal development or birth'|'has material basis in' some 'autosomal dominant inheritance'
DOID:0111401 congenital dyserythropoietic anemia type II 'disease has basis in' some 'Abnormality of prenatal development or birth'|'has material basis in' some 'autosomal recessive inheritance'
DOID:0111402 mucopolysaccharidosis type IIID 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 'has material basis in' some 'autosomal dominant inheritance'|'has phenotype' some 'Neurodevelopmental delay'
Expand Down Expand Up @@ -3190,7 +3208,7 @@ DOID:0111677 familial benign fleck retina 'has material basis in' some 'autosoma
DOID:0111678 hereditary folate malabsorption 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111679 glutamate formiminotransferase deficiency 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111680 essential fructosuria 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111681 glutamate-cysteine ligase deficiency 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111681 congenital nonspherocytic hemolytic anemia 7 'has material basis in' some 'autosomal recessive inheritance'
DOID:0111682 diffuse cystic renal dysplasia 'has material basis in' some 'autosomal dominant inheritance'
DOID:0111683 neurofibromatosis-Noonan syndrome 'has material basis in' some 'autosomal dominant inheritance'|'has phenotype' some 'Short stature'|'has symptom' some 'muscle weakness'|'has symptom' some ptosis
DOID:0111685 hereditary mixed polyposis syndrome 1 ('has material basis in' some chromosome) and ('has material basis in' some duplication)
Expand Down Expand Up @@ -3660,7 +3678,7 @@ DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency 'has material bas
DOID:0112249 GAPO syndrome 'has material basis in' some 'autosomal recessive inheritance'
DOID:0112250 Gaucher's disease type IIIC 'has material basis in' some 'autosomal recessive inheritance'
DOID:0112251 Ghosal hematodiaphyseal syndrome 'has material basis in' some 'autosomal recessive inheritance'
DOID:0112252 glutathione synthetase deficiency of erythrocytes 'has material basis in' some 'autosomal recessive inheritance'
DOID:0112252 congenital nonspherocytic hemolytic anemia 6 'has material basis in' some 'autosomal recessive inheritance'
DOID:0112253 combined cellular and humoral immune defects with granulomas 'has material basis in' some 'autosomal recessive inheritance'|'has phenotype' some Granuloma
DOID:0112254 hepatic venoocclusive disease with immunodeficiency 'has material basis in' some 'autosomal recessive inheritance'
DOID:0112255 homocystinuria-megaloblastic anemia cblE type 'has material basis in' some 'autosomal recessive inheritance'
Expand Down Expand Up @@ -5038,7 +5056,7 @@ DOID:5834 spermatocytoma 'derives from' some 'egg cell'|'derives from' some 'ger
DOID:5842 testis seminoma 'derives from' some 'egg cell'|'derives from' some 'germ cell'|'derives from' some sperm|'disease has location' some testis
DOID:5844 myocardial infarction 'has symptom' some necrosis
DOID:5870 eosinophilic pneumonia 'has phenotype' some Hyperhidrosis|'has symptom' some 'breathing problems'|'has symptom' some 'night sweats'|'has symptom' some cough|'has symptom' some fever|'has symptom' some pneumonitis
DOID:589 congenital hemolytic anemia 'disease has basis in' some 'Abnormality of prenatal development or birth'
DOID:589 congenital hemolytic anemia 'disease has basis in' some 'Abnormality of prenatal development or birth'|'existence starts during' some 'Congenital onset'
DOID:5890 malignant adult ependymoma 'existence starts during' some 'Adult onset'
DOID:5893 childhood malignant mesenchymoma 'existence starts during' some 'Childhood onset'
DOID:5894 adult malignant mesenchymoma 'existence starts during' some 'Adult onset'
Expand Down Expand Up @@ -5278,7 +5296,6 @@ DOID:774 retina lymphoma 'has material basis in' some lymphocyte
DOID:7747 childhood extraocular retinoblastoma 'existence starts during' some 'Childhood onset'
DOID:7750 adult brain ependymoma 'disease has location' some 'spinal cord'|'existence starts during' some 'Adult onset'
DOID:7756 neonatal leukemia 'existence starts during' some 'Neonatal onset'
DOID:7757 childhood leukemia 'existence starts during' some 'Childhood onset'
DOID:7762 childhood multilocular cystic kidney neoplasm 'existence starts during' some 'Childhood onset'
DOID:778 delusional disorder 'has symptom' some hallucination
DOID:7788 adult spinal cord ependymoma 'existence starts during' some 'Adult onset'
Expand Down
10 changes: 6 additions & 4 deletions DOreports/GARDinDO.tsv
View file
Original file line number Diff line number Diff line change
Expand Up @@ -207,6 +207,7 @@ id label xrefs
"DOID:0050976" "spinocerebellar ataxia type 27"@en "GARD:9603"
"DOID:0050979" "spinocerebellar ataxia type 30"@en "GARD:4950"
"DOID:0050997" "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome"@en "GARD:1998"
"DOID:0051013" "pseudohypoparathyroidism type 1C"@en "GARD:10681"
"DOID:0060000" "infective endocarditis"@en "GARD:6337"
"DOID:0060010" "Omenn syndrome"@en "GARD:8198"
"DOID:0060013" "X-linked severe combined immunodeficiency"@en "GARD:5618"
Expand Down Expand Up @@ -429,6 +430,7 @@ id label xrefs
"DOID:0060986" "preaxial polydactyly II"@en "GARD:5289"
"DOID:0060987" "preaxial polydactyly I"@en "GARD:4417"
"DOID:0061009" "craniosynostosis 2"@en "GARD:5538"
"DOID:0061017" "combined pituitary hormone deficiency 4"@en "GARD:10604"
"DOID:0070026" "Revesz syndrome"@en "GARD:4695"
"DOID:0070029" "ITM2B-related cerebral amyloid angiopathy 1"@en "GARD:8344"
"DOID:0070055" "Xia-Gibbs Syndrome"@en "GARD:13409"
Expand Down Expand Up @@ -540,7 +542,7 @@ id label xrefs
"DOID:0080050" "acromesomelic dysplasia, Maroteaux type"@en "GARD:507"
"DOID:0080051" "acromesomelic dysplasia, Hunter-Thompson type"@en "GARD:506"
"DOID:0080052" "acromesomelic dysplasia, Grebe type"@en "GARD:1300"
"DOID:0080053" "Albright's hereditary osteodystrophy"@en "GARD:5770"
"DOID:0080053" "pseudohypoparathyroidism type 1A"@en "GARD:7486"
"DOID:0080054" "achondrogenesis type IA"@en "GARD:459"
"DOID:0080055" "achondrogenesis type IB"@en "GARD:460"
"DOID:0080056" "achondrogenesis type II"@en "GARD:8713"
Expand Down Expand Up @@ -589,7 +591,7 @@ id label xrefs
"DOID:0080216" "duodenal atresia"@en "GARD:54"
"DOID:0080217" "lysosomal acid lipase deficiency"@en "GARD:12097"
"DOID:0080218" "primary spontaneous pneumothorax"@en "GARD:4997"
"DOID:0080222" "pseudohypoparathyroidism type IB"@en "GARD:10680"
"DOID:0080222" "pseudohypoparathyroidism type 1B"@en "GARD:10680"
"DOID:0080223" "epidermolytic palmoplantar keratoderma"@en "GARD:2826"
"DOID:0080224" "autosomal dominant dystrophic epidermolysis bullosa"@en "GARD:2139"
"DOID:0080234" "Clark-Baraitser syndrome"@en "GARD:13584"
Expand Down Expand Up @@ -913,7 +915,7 @@ id label xrefs
"DOID:0111069" "congenital bile acid synthesis defect 2"@en "GARD:10045"
"DOID:0111071" "congenital bile acid synthesis defect 1"@en "GARD:9813"
"DOID:0111072" "myostatin-related muscle hypertrophy"@en "GARD:10238"
"DOID:0111077" "pyruvate kinase deficiency of red cells"@en "GARD:7514"
"DOID:0111077" "congenital nonspherocytic hemolytic anemia 2"@en "GARD:7514"
"DOID:0111079" "birdshot chorioretinopathy"@en "GARD:5926"
"DOID:0111135" "congenital generalized lipodystrophy type 1"@en "GARD:84"
"DOID:0111136" "congenital generalized lipodystrophy type 2"@en "GARD:10212"
Expand Down Expand Up @@ -995,7 +997,7 @@ id label xrefs
"DOID:0111393" "mucopolysaccharidosis type IIIC"@en "GARD:7073"
"DOID:0111394" "mucopolysaccharidosis type IIIB"@en "GARD:7072"
"DOID:0111396" "congenital dyserythropoietic anemia type I"@en "GARD:2000"
"DOID:0111399" "congenital dyserythropoietic anemia type III"@en "GARD:2002"
"DOID:0111399" "congenital dyserythropoietic anemia type IIIa"@en "GARD:2002"
"DOID:0111401" "congenital dyserythropoietic anemia type II"@en "GARD:2001"
"DOID:0111402" "mucopolysaccharidosis type IIID"@en "GARD:7074"
"DOID:0111404" "Jalili syndrome"@en "GARD:1463"
Expand Down
Loading

0 comments on commit 121555b

Please sign in to comment.