DO November 2024 release

Author: allenbaron

DOreports/DO-equivalentClass.tsv

@@ -92,6 +92,7 @@ DOID:0060501	metal allergy	disease and ('has allergic trigger' some ('metal cati
 DOID:0060564	spinal disease	disease and ('disease has location' some 'vertebral column')
 DOID:0060570	cardiac tuberculosis	tuberculosis and ('disease has location' some heart)
 DOID:0070003	blastoma	cancer and ('derives from' some 'non-terminally differentiated cell')
+DOID:0070620	ring chromosome syndrome	disease and ('has material basis in' some ring_chromosome)
 DOID:0080000	muscular disease	disease and ('disease has location' some 'muscle tissue')
 DOID:0080001	bone disease	disease and ('disease has location' some 'bone element')
 DOID:0080009	X-linked dominant disease	disease and ('has material basis in' some 'X-linked dominant inheritance')

DOreports/DO-subClassOf-anonymous.tsv

@@ -445,6 +445,7 @@ DOID:0050977	spinocerebellar ataxia type 28	'has symptom' some ptosis
 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: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
@@ -905,6 +906,15 @@ DOID:0060999	mitochondrial trifunctional protein deficiency 2	'has material basi
 DOID:0061002	congenital amegakaryocytic thrombocytopenia 2	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0061003	pancreatic agenesis 1	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0061004	poor metabolism of thiopurines 1	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061005	congenital amegakaryocytic thrombocytopenia 1	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061007	sideroblastic anemia 5	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061008	craniosynostosis 6	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061009	craniosynostosis 2	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061010	craniosynostosis 1	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061011	craniosynostosis 3	'has material basis in' some 'autosomal dominant inheritance'
+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: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'
@@ -1287,6 +1297,7 @@ DOID:0070613	familial renal glucosuria	'has material basis in' some 'autosomal d
 DOID:0070615	autoinflammation, antibody deficiency, and immune dysregulation syndrome	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0070617	rhabdoid tumor predisposition syndrome	'existence starts during' some ('Infantile onset' or 'Childhood onset')|'has material basis in' some 'autosomal dominant inheritance'
 DOID:0070618	rhabdoid tumor predisposition syndrome 1	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0070629	acute myeloid leukemia with CBFA2T3-GLIS2 fusion	'existence starts during' some ('Infantile onset' or 'Childhood onset')
 DOID:0080007	bone deterioration disease	'disease has location' some 'bone element'
 DOID:0080010	bone structure disease	'has phenotype' some 'Abnormal bone structure'
 DOID:0080020	Jansen's metaphyseal chondrodysplasia	'has material basis in' some 'autosomal dominant inheritance'|'has phenotype' some 'Disproportionate short-limb short stature'
@@ -2043,7 +2054,7 @@ DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radia
 DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0090014	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy	'has material basis in' some 'autosomal recessive inheritance'
-DOID:0090018	autosomal dominant familial periodic fever	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0090018	TNF receptor–associated periodic syndrome	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0090019	sitosterolemia 1	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0090020	split hand-foot malformation	'disease has location' some (foot and hand)
 DOID:0090021	split hand-foot malformation 1	'disease has location' some (foot and hand)|'has material basis in' some 'autosomal dominant inheritance'
@@ -4321,7 +4332,7 @@ DOID:1754	mitral valve stenosis	'has phenotype' some 'Mitral stenosis'
 DOID:1759	American histoplasmosis	'has symptom' some 'loss of appetite'|'has symptom' some 'muscle pain'|'has symptom' some headache|'transmitted by' some 'airborne transmission'
 DOID:1762	cheilitis	'has symptom' some inflammation
 DOID:1787	pericarditis	'has symptom' some 'chest pain'|'has symptom' some inflammation
-DOID:1788	peritoneal mesothelioma	'derives from' some 'mesothelial cell'
+DOID:1788	peritoneal mesothelioma	('derives from' some 'epithelioid macrophage') and ('disease has location' some mesothelium)
 DOID:1791	peritoneal carcinoma	'derives from' some 'epithelial cell'|'disease has location' some peritoneum
 DOID:1792	pancreas lymphoma	'has material basis in' some lymphocyte
 DOID:1796	pancreas sarcoma	'derives from' some 'embryonic cell (metazoa)'
@@ -4374,6 +4385,7 @@ DOID:2127	brain germinoma	'derives from' some 'germ cell'
 DOID:2133	central nervous system sarcoma	cancer and ('derives from' some 'embryonic cell (metazoa)')
 DOID:2139	paraurethral gland neoplasm	'disease has location' some 'paraurethral gland'
 DOID:2142	urethra leiomyoma	'derives from' some 'smooth muscle cell'
+DOID:2143	ovarian malignant mesothelioma	('derives from' some 'epithelioid macrophage') and ('disease has location' some mesothelium)
 DOID:2146	ovary sarcoma	'derives from' some 'embryonic cell (metazoa)'
 DOID:2148	tuberculous oophoritis	'disease has location' some ovary
 DOID:2150	ovarian lymphoma	'has material basis in' some lymphocyte
@@ -5065,6 +5077,7 @@ DOID:6193	epithelioid sarcoma	'derives from' some 'embryonic cell (metazoa)'
 DOID:6195	conjunctivitis	'has symptom' some inflammation
 DOID:6196	reactive arthritis	'disease has location' some 'skeletal joint'|'has phenotype' some 'Abnormal circulating immunoglobulin concentration'
 DOID:62	aortic valve disease	'disease has location' some aorta
+DOID:6201	pericardial mesothelioma	('derives from' some 'epithelioid macrophage') and ('disease has location' some mesothelium)
 DOID:6208	mediastinal osteogenic sarcoma	('derives from' some fibroblast) or ('derives from' some chondroblast) or ('derives from' some osteoblast)
 DOID:6229	childhood mature teratoma of the ovary	'existence starts during' some 'Childhood onset'
 DOID:6230	childhood teratoma of the ovary	'existence starts during' some 'Childhood onset'
@@ -5231,7 +5244,7 @@ DOID:7430	childhood germ cell brain tumor	'disease has location' some brain|'exi
 DOID:745	epididymis adenomatoid tumor	'derives from' some 'squamous epithelial cell'|'disease has location' some mesothelium|has_origin some gland
 DOID:7463	childhood pleomorphic rhabdomyosarcoma	'existence starts during' some 'Childhood onset'
 DOID:7465	chronic NK-cell lymphocytosis	'disease has feature' some neuropathy|'has symptom' some 'apthous ulcer'|'has symptom' some 'joint pain'|'has symptom' some 'mouth sore'|'has symptom' some cytopenia|'has symptom' some fever
-DOID:7474	malignant pleural mesothelioma	'derives from' some 'mesothelial cell'|'disease has location' some pleura
+DOID:7474	malignant pleural mesothelioma	'disease has location' some pleura|('derives from' some 'epithelioid macrophage') and ('disease has location' some mesothelium)
 DOID:7475	diverticulitis	'has symptom' some inflammation
 DOID:7497	brain ependymoma	'disease has location' some 'spinal cord'
 DOID:75	lymphatic system disease	'has symptom' some inflammation

DOreports/GARDinDO.tsv

@@ -130,6 +130,7 @@ id	label	xrefs
 "DOID:0050709"	"early infantile epileptic encephalopathy"@en	"GARD:9255"
 "DOID:0050710"	"3-methylcrotonyl-CoA carboxylase deficiency"@en	"GARD:10954"
 "DOID:0050711"	"aceruloplasminemia"@en	"GARD:9499"
+"DOID:0050720"	"ornithine translocase deficiency"@en	"GARD:2830"
 "DOID:0050729"	"Chanarin-Dorfman syndrome"@en	"GARD:3979"
 "DOID:0050730"	"coenzyme Q10 deficiency disease"@en	"GARD:10423"
 "DOID:0050740"	"Qazi Markouizos syndrome"@en	"GARD:371"
@@ -153,6 +154,7 @@ id	label	xrefs
 "DOID:0050778"	"Meckel syndrome"@en	"GARD:3436"
 "DOID:0050779"	"hydrolethalus syndrome"@en	"GARD:6683"
 "DOID:0050782"	"Zollinger-Ellison syndrome"@en	"GARD:7918"
+"DOID:0050786"	"iridogoniodysgenesis syndrome"@en	"GARD:3026"
 "DOID:0050787"	"juvenile polyposis syndrome"@en	"GARD:3065"
 "DOID:0050788"	"proximal symphalangism"@en	"GARD:8182"
 "DOID:0050789"	"tarsal-carpal coalition syndrome"@en	"GARD:9225"
@@ -426,6 +428,7 @@ id	label	xrefs
 "DOID:0060959"	"orofaciodigital syndrome II"@en	"GARD:3701"
 "DOID:0060986"	"preaxial polydactyly II"@en	"GARD:5289"
 "DOID:0060987"	"preaxial polydactyly I"@en	"GARD:4417"
+"DOID:0061009"	"craniosynostosis 2"@en	"GARD:5538"
 "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"
@@ -516,6 +519,8 @@ id	label	xrefs
 "DOID:0070563"	"glucose-galactose malabsorption"@en	"GARD:6521"
 "DOID:0070613"	"familial renal glucosuria"@en	"GARD:7548"
 "DOID:0070615"	"autoinflammation, antibody deficiency, and immune dysregulation syndrome"@en	"GARD:17486"
+"DOID:0070621"	"ring chromosome 14 syndrome"@en	"GARD:6072"
+"DOID:0070622"	"ring chromosome 20 syndrome"@en	"GARD:1334"
 "DOID:0080016"	"spina bifida"@en	"GARD:7673"
 "DOID:0080021"	"Schmid metaphyseal chondrodysplasia"@en	"GARD:7029"
 "DOID:0080028"	"spondyloepimetaphyseal dysplasia, Strudwick type"@en	"GARD:134"
@@ -746,7 +751,7 @@ id	label	xrefs
 "DOID:0090006"	"renal coloboma syndrome"@en	"GARD:4106"
 "DOID:0090015"	"Cenani-Lenz syndactyly syndrome"@en	"GARD:5084"
 "DOID:0090016"	"chromosome 5q deletion syndrome"@en	"GARD:10840"
-"DOID:0090018"	"autosomal dominant familial periodic fever"@en	"GARD:8457"
+"DOID:0090018"	"TNF receptor–associated periodic syndrome"@en	"GARD:8457"
 "DOID:0090019"	"sitosterolemia 1"@en	"GARD:7653"
 "DOID:0090020"	"split hand-foot malformation"@en	"GARD:6319"
 "DOID:0090030"	"corticosteroid-binding globulin deficiency"@en	"GARD:13101"
@@ -1546,6 +1551,7 @@ id	label	xrefs
 "DOID:1455"	"geographic tongue"@en	"GARD:6493"
 "DOID:146"	"papilledema"@en	"GARD:7318"
 "DOID:14669"	"acrodysostosis"@en	"GARD:2015, GARD:5724"
+"DOID:14670"	"hypertelorism, microtia, facial clefting syndrome"@en	"GARD:897"
 "DOID:14671"	"multiple intestinal atresia"@en	"GARD:3013"
 "DOID:14679"	"VACTERL association"@en	"GARD:5443"
 "DOID:14681"	"Silver-Russell syndrome"@en	"GARD:4870"
@@ -1565,6 +1571,7 @@ id	label	xrefs
 "DOID:14731"	"Weaver syndrome"@en	"GARD:5545, GARD:7878"
 "DOID:14735"	"hereditary angioedema"@en	"GARD:5979"
 "DOID:14737"	"craniofrontonasal syndrome"@en	"GARD:1578"
+"DOID:14743"	"trichorhinophalangeal syndrome type I"@en	"GARD:7802"
 "DOID:14744"	"Partington syndrome"@en	"GARD:4235"
 "DOID:14748"	"Sotos syndrome"@en	"GARD:10091"
 "DOID:14749"	"methylmalonic acidemia"@en	"GARD:7033"
@@ -1916,6 +1923,7 @@ id	label	xrefs
 "DOID:5572"	"Beckwith-Wiedemann syndrome"@en	"GARD:3343"
 "DOID:5574"	"VIPoma"@en	"GARD:5493"
 "DOID:5648"	"choroid plexus carcinoma"@en	"GARD:8238"
+"DOID:5677"	"malignant extragonadal nonseminomatous germ cell tumor"@en	"GARD:10165"
 "DOID:5688"	"Werner syndrome"@en	"GARD:7885"
 "DOID:5719"	"adrenal medulla cancer"@en	"GARD:5755"
 "DOID:5728"	"diffuse peritoneal leiomyomatosis"@en	"GARD:12843"