July 2025 release

Author: allenbaron

DOreports/DO-equivalentClass.tsv

@@ -90,7 +90,6 @@ DOID:0060500	drug allergy	'allergic disease' and ('has allergic trigger' some ('
 DOID:0060501	metal allergy	disease and ('has allergic trigger' some ('metal cation' or 'metal atom' or 'alkali metal salt'))
 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')
@@ -471,7 +470,6 @@ DOID:4138	bile duct disease	disease and ('disease has location' some 'bile duct'
 DOID:4141	intraorbital meningioma	meningioma and ('disease has location' some 'orbital region')
 DOID:4143	orbital cancer	cancer and ('disease has location' some 'orbital region')
 DOID:4159	skin cancer	cancer and ('disease has location' some 'zone of skin')
-DOID:417	autoimmune disease	disease and ('has phenotype' some 'Abnormal circulating immunoglobulin concentration')
 DOID:4193	intracranial thrombosis	thrombosis and ('disease has location' some brain)
 DOID:4196	femoral neuropathy	mononeuropathy and ('disease has location' some 'femoral nerve')
 DOID:4203	brain stem cancer	cancer and ('disease has location' some brainstem)

DOreports/DO-subClassOf-anonymous.tsv

@@ -523,6 +523,7 @@ DOID:0060173	Timothy syndrome	'has material basis in' some 'autosomal dominant i
 DOID:0060177	homocarnosinosis	'disease has location' some brain
 DOID:0060178	familial hemiplegic migraine	'has symptom' some 'muscle weakness'|'has symptom' some confusion|'has symptom' some drowsiness|'has symptom' some hemiparesis
 DOID:0060179	Renpenning syndrome	'has material basis in' some 'X-linked recessive inheritance'|'has symptom' some 'short stature'
+DOID:0060180	colitis	'disease has location' some colon
 DOID:0060188	jejunoileitis	'has symptom' some 'abdominal cramp'|'has symptom' some 'abdominal pain'|'has symptom' some cramp|'has symptom' some diarrhea
 DOID:0060189	ileitis	'disease has location' some ileum|'has symptom' some 'right lower quadrant abdominal pain'|'has symptom' some 'weight loss'|'has symptom' some diarrhea
 DOID:0060190	ileocolitis	'disease has location' some ileum|'has symptom' some 'right lower quadrant abdominal pain'|'has symptom' some 'weight loss'|'has symptom' some diarrhea|'has symptom' some inflammation
@@ -1089,6 +1090,20 @@ DOID:0061150	familial isolated hypoparathyroidism 1	'has material basis in' some
 DOID:0061151	familial isolated hypoparathyroidism 2	'has material basis in' some 'autosomal dominant inheritance'|'has material basis in' some 'autosomal recessive inheritance'
 DOID:0061152	monilethrix 2	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0061153	monilethrix 3	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061155	kyphomelic dysplasia	'has material basis in' some 'autosomal recessive inheritance'|'has phenotype' some 'Bowing of the long bones'
+DOID:0061156	CASGID syndrome	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061157	retinopathy sensory neuropathy syndrome	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061159	infantile onset multisystem autoimmune disease	'existence starts during' some 'Infantile onset'
+DOID:0061160	infantile onset multisystem autoimmune disease 1	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061161	infantile onset multisystem autoimmune disease 2	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061162	infantile onset multisystem autoimmune disease 3	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061163	infantile onset multisystem autoimmune disease 4	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061164	infantile onset multisystem autoimmune disease 5	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061166	autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061167	autosomal recessive proximal renal tubular acidosis	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061169	autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0061171	immunodeficiency 130 with HPV-related verrucosis	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0061172	transient neonatal diabetes mellitus 3	'has material basis in' some 'autosomal dominant 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:0070013	Seckel syndrome 2	'has material basis in' some 'autosomal recessive inheritance'
@@ -1477,7 +1492,17 @@ DOID:0070636	mirror movements 1	'has material basis in' some 'autosomal dominant
 DOID:0070637	mirror movements 2	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0070638	mirror movements 4	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0070639	mirror movements 3	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0070640	hereditary spastic paraplegia 18A	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0070641	hereditary spastic paraplegia 18B	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0070642	hereditary spastic paraplegia 72B	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0070643	hereditary spastic paraplegia 91	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0070644	hereditary spastic paraplegia 92	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0070645	hereditary spastic paraplegia 93	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0070646	hereditary spastic paraplegia 30B	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0070647	hereditary spastic paraplegia 30A	'has material basis in' some 'autosomal dominant inheritance'
+DOID:0070649	cherubism 2	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0070650	Ramon syndrome	'disease has feature' some 'gingival fibromatosis'|'disease has feature' some cherubism|'has material basis in' some 'autosomal recessive inheritance'
+DOID:0070651	neurodevelopmental disorder with seizures and gingival overgrowth	'has material basis in' some 'autosomal recessive inheritance'
 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'
@@ -1576,7 +1601,7 @@ DOID:0080149	adult acute monocytic leukemia	'existence starts during' some 'Adul
 DOID:0080156	X-linked adrenal hypoplasia congenita	'has material basis in' some 'X-linked recessive inheritance'
 DOID:0080161	cutaneous candidiasis	'disease has location' some 'zone of skin'
 DOID:0080162	lupus nephritis	'has symptom' some inflammation
-DOID:0080163	otulipenia	'has material basis in' some 'autosomal recessive inheritance'
+DOID:0080163	autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0080172	poor metabolism of thiopurines	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0080174	bladder exstrophy	'disease has location' some 'urinary bladder'
 DOID:0080178	mucositis	'has symptom' some inflammation
@@ -2113,8 +2138,7 @@ DOID:0081237	acromesomelic dysplasia 3	'has material basis in' some 'autosomal r
 DOID:0081238	acromesomelic dysplasia 4	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0081240	peroxisome biogenesis disorder 1B	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0081241	peroxisome biogenesis disorder 3B	'has material basis in' some 'autosomal recessive inheritance'
-DOID:0081242	autoimmune interstitial lung, joint, and kidney disease	'disease has feature' some 'interstitial lung disease'|'has material basis in' some 'autosomal dominant inheritance'|'has phenotype' some 'Abnormal circulating immunoglobulin concentration'
-DOID:0081244	pituitary blastoma	'derives from' some 'non-terminally differentiated cell'
+DOID:0081242	autoimmune interstitial lung, joint, and kidney disease	'disease has feature' some 'interstitial lung disease'|'has material basis in' some 'autosomal dominant inheritance'|'has phenotype' some 'Abnormal circulating immunoglobulin concentration'|disease and ('disease has basis in' some symptom)
 DOID:0081248	pineocytoma	'disease has location' some 'pineal body'
 DOID:0081259	desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma	'existence starts during' some 'Infantile onset'
 DOID:0081268	pulmonary venoocclusive disease 1	'has material basis in' some 'autosomal dominant inheritance'
@@ -2745,7 +2769,6 @@ DOID:0110767	hereditary spastic paraplegia 14	'has material basis in' some 'auto
 DOID:0110768	hereditary spastic paraplegia 15	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0110769	hereditary spastic paraplegia 16	'has material basis in' some 'X-linked recessive inheritance'
 DOID:0110770	hereditary spastic paraplegia 17	'has material basis in' some 'autosomal dominant inheritance'
-DOID:0110771	hereditary spastic paraplegia 18	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0110772	hereditary spastic paraplegia 19	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0110773	hereditary spastic paraplegia 2	'has material basis in' some 'X-linked recessive inheritance'
 DOID:0110774	hereditary spastic paraplegia 23	'has material basis in' some 'autosomal recessive inheritance'
@@ -2791,7 +2814,7 @@ DOID:0110813	hereditary spastic paraplegia 62	'has material basis in' some 'auto
 DOID:0110814	hereditary spastic paraplegia 63	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0110815	hereditary spastic paraplegia 64	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0110816	hereditary spastic paraplegia 7	'has material basis in' some 'autosomal recessive inheritance'
-DOID:0110817	hereditary spastic paraplegia 72A	'has material basis in' some 'autosomal dominant inheritance'|'has material basis in' some 'autosomal recessive inheritance'
+DOID:0110817	hereditary spastic paraplegia 72A	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0110818	hereditary spastic paraplegia 73	'has material basis in' some 'autosomal dominant inheritance'
 DOID:0110819	hereditary spastic paraplegia 74	'has material basis in' some 'autosomal recessive inheritance'
 DOID:0110820	hereditary spastic paraplegia 75	'has material basis in' some 'autosomal recessive inheritance'
@@ -4504,7 +4527,7 @@ DOID:1638	central nervous system tuberculosis	'disease has location' some 'centr
 DOID:1639	skeletal tuberculosis	'disease has location' some 'bone element'
 DOID:1678	chronic interstitial cystitis	'has symptom' some dysuria|'has symptom' some pain
 DOID:1679	cystitis	'has symptom' some inflammation
-DOID:1682	congenital heart disease	'disease has basis in' some 'Abnormality of prenatal development or birth'
+DOID:1682	congenital heart disease	'disease has location' some heart
 DOID:1687	neovascular glaucoma	'disease has feature' some 'ocular hypertension'|'has symptom' some 'bloodshot eye'|'has symptom' some 'loss of vision'|'has symptom' some headache|'has symptom' some pain
 DOID:1697	ichthyosis	'has phenotype' some 'Epidermal thickening'
 DOID:1700	X-linked ichthyosis	'has material basis in' some 'X-linked recessive inheritance'
@@ -4525,7 +4548,7 @@ DOID:1792	pancreas lymphoma	'has material basis in' some lymphocyte
 DOID:1796	pancreas sarcoma	'derives from' some 'embryonic cell (metazoa)'
 DOID:1800	neuroendocrine carcinoma	'derives from' some 'neuroendocrine cell'
 DOID:1825	childhood absence epilepsy	'existence starts during' some 'Childhood onset'
-DOID:1856	cherubism	'has material basis in' some 'autosomal dominant inheritance'
+DOID:1856	cherubism 1	'has material basis in' some 'autosomal dominant inheritance'
 DOID:1858	McCune Albright syndrome	'has material basis in' some 'autosomal inheritance'
 DOID:1866	giant cell reparative granuloma	'has phenotype' some Granuloma
 DOID:1883	hepatitis C	'has material basis in' some 'Hepacivirus hominis'|'has symptom' some 'abdominal pain'|'has symptom' some 'acholic stool'|'has symptom' some 'joint pain'|'has symptom' some 'liver inflammation'|'has symptom' some 'loss of appetite'|'has symptom' some fatigue|'has symptom' some fever|'has symptom' some jaundice|'has symptom' some nausea|'has symptom' some vomiting
@@ -5005,7 +5028,7 @@ DOID:472	subglottic angioma	'derives from' some 'endothelial cell'|'disease has
 DOID:4723	intracranial hypotension	'has phenotype' some 'Decreased intracranial pressure'
 DOID:4724	brain edema	'has symptom' some coma|'has symptom' some nausea|'has symptom' some seizure|'has symptom' some vomiting
 DOID:4730	vasomotor rhinitis	'has symptom' some shock
-DOID:4765	pulmonary blastoma	'derives from' some 'non-terminally differentiated cell'|'disease has location' some pleura
+DOID:4765	pulmonary blastoma	'disease has location' some pleura
 DOID:4773	congenital mesoblastic nephroma	'disease has basis in' some 'Abnormality of prenatal development or birth'
 DOID:4812	adult brainstem gliosarcoma	'existence starts during' some 'Adult onset'
 DOID:4813	adult brain stem glioma	'existence starts during' some 'Adult onset'

DOreports/GARDinDO.tsv

@@ -528,6 +528,7 @@ id	label	xrefs
 "DOID:0070615"	"autoinflammation, antibody deficiency, and immune dysregulation syndrome"	"GARD:17486"
 "DOID:0070621"	"ring chromosome 14 syndrome"	"GARD:6072"
 "DOID:0070622"	"ring chromosome 20 syndrome"	"GARD:1334"
+"DOID:0070650"	"Ramon syndrome"	"GARD:7523"
 "DOID:0080016"	"spina bifida"	"GARD:7673"
 "DOID:0080021"	"Schmid metaphyseal chondrodysplasia"	"GARD:7029"
 "DOID:0080028"	"spondyloepimetaphyseal dysplasia, Strudwick type"	"GARD:134"
@@ -580,7 +581,7 @@ id	label	xrefs
 "DOID:0080156"	"X-linked adrenal hypoplasia congenita"	"GARD:555"
 "DOID:0080160"	"Cytomegalovirus retinitis"	"GARD:9531"
 "DOID:0080162"	"lupus nephritis"	"GARD:10747"
-"DOID:0080163"	"otulipenia"	"GARD:13198"
+"DOID:0080163"	"autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome"	"GARD:13198"
 "DOID:0080169"	"tricuspid atresia"	"GARD:5274"
 "DOID:0080170"	"normophosphatemic familial tumoral calcinosis"	"GARD:10878"
 "DOID:0080171"	"esophageal atresia/tracheoesophageal fistula"	"GARD:7792"
@@ -1629,7 +1630,7 @@ id	label	xrefs
 "DOID:1835"	"mononeuritis multiplex"	"GARD:7056"
 "DOID:1838"	"Menkes disease"	"GARD:1521"
 "DOID:1852"	"intrahepatic cholestasis"	"GARD:10214"
-"DOID:1856"	"cherubism"	"GARD:6036"
+"DOID:1856"	"cherubism 1"	"GARD:6036"
 "DOID:1858"	"McCune Albright syndrome"	"GARD:6995"
 "DOID:1921"	"Klinefelter syndrome"	"GARD:8705"
 "DOID:1925"	"Coffin-Siris syndrome"	"GARD:6124"