DO November 2025 Release

This release of the Human Disease Ontology includes 11,997 disease classes, 9,713 with textual definitions (81.0%). Translation files now include 11,824 labels (98.6%), 11,483 synonyms (59.1%), and 6,409 definitions (66.0%) in Spanish.

Newly added diseases include arterionephrosclerosis, chronic pancreatitis, left ventricular failure, Majeed syndrome, muscle dysmorphic disorder, stroke, hemorrhagic stroke, ischemic stroke, oropharyngeal squamous cell carcinoma, paranasal sinus squamous cell carcinoma, poorly differentiated thyroid carcinoma, soft tissue sarcoma, and subcutaneous panniculitis-like T-cell lymphoma.

Disease that have been revised include 'autoimmune interstitial lung, joint, and kidney disease', autosomal dominant Alport syndrome 3A, autosomal dominant hyper-IgE syndromes, bronchiectasis, cerebral infarction, coronary artery disease, C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis, complex cortical dysplasia with other brain malformations 14B, COVID-19, Duane retraction syndrome, early-onset epilepsies, Ehlers-Danlos syndrome periodontal types, hereditary fallopian tube carcinoma, hereditary ovarian carcinoma, hyper IgE recurrent infection syndrome 2, immunodeficiency with hyper-IgM type 4, Li-Fraumeni syndrome 2, Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia, mitochondrial DNA depletion syndromes, pontocerebellar hypoplasia type 2A, metal allergy, chloramine T respiratory allergy, disodium cromoglycate allergy, potassium dichromate allergic contact dermatitis, remazole black respiratory allergy, pulmonary eosinophilia, eosinophilic pneumonia, hypereosinophilic syndrome, bone sarcoma, squamous cell carcinoma, head and neck squamous cell carcinoma, nasal cavity squamous cell carcinoma, oropharynx cancer, paranasal sinus cancer, cerebrovascular disease, and ureteral orifice cancer.

Full Changelog: v2025-10-31...v2025-11-25

Obsoleted Diseases

ID	label	term replaced by	consider	reason
DOID:0110836	Usher syndrome type 1J	DOID:0110505		merged by OMIM

DO October 2025 Release

This release of the Human Disease Ontology includes 11,985 disease classes, 9,698 with textual definitions (80.9%). Translation files now include 11,582 labels (96.6%), 11,490 synonyms (59.2%), and 6,409 definitions (66.1%) in Spanish.

Disease groups revised and/or expanded include Bethlem myopathy, branchiootic syndrome, epidermolytic hyperkeratosis 2, frontotemporal dementia, Lafora disease, maple syrup urine disease, and pheochromocytoma/paraganglioma syndrome.

Additional revisions were made to cerebellar ataxias, urethra cancers, peripheral vascular disease, anterior spinal artery syndrome, syndromic X-linked intellectual disability Shashi type, X-linked mental retardation Gustavson type, familial adult myoclonic epilepsy 5, familial hyperlipidemia, hepatitis, infantile myofibromatosis, and more.

Newly added diseases include alpha-gal syndrome, autosomal recessive Segawa syndrome, BCARD syndrome, biliary obstruction, congenital muscular dystrophy with rapid progression, hepatic fibrosis, hypocholesteremia, Mietens syndrome, proximal renal tubular acidosis-ocular anomaly syndrome, and telomere biology disorder.

Full Changelog: v2025-09-30...v2025-10-31

Obsoleted Diseases

ID	label	term replaced by	consider	reason
DOID:4086	testicular germ cell tumor non-seminomatous	DOID:5345		duplicate

DO September 2025 Release

This release of the Human Disease Ontology includes 11,953 disease classes, 9,656 with textual definitions (80.8%). Translation files now include 11,275 labels (94.3%), 11,495 synonyms (59.2%), and 6,401 definitions (66.3%) in Spanish.

Disease groups revised and/or expanded include Usher syndrome type 1, alcohol-associated liver disease, periarthritis, bursitis, congenital myopathy, lymphedema, hyaline body myopathy, and viral infectious disease (many viral species updates thanks to the latest NCBITaxon release).

Additional revisions were made to autosomal recessive intellectual developmental disorder 69, congenital nystagmus 1, giardiasis, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, RENI syndrome, and rigid spine muscular dystrophy 1.

Newly added diseases include congenital variant of Rett syndrome, neonatal inflammatory skin and bowel disease 1, neonatal nephrocutaneous inflammatory syndrome, nephrotic syndrome type 24, and nephrotic syndrome type 26.

Full Changelog: v2025-08-29...v2025-09-30

Obsoleted Diseases

ID	label	term replaced by	consider	reason
DOID:12223	specific bursitis often of occupational origin			out of scope: generic disease with non-specific qualifier

DO August 2025 Release

This release of the Human Disease Ontology includes 11,946 disease classes, 9,640 with textual definitions (80.7%). Translation files now include 11,078 labels (92.7%), 11,461 synonyms (59.3%), and 6,402 definitions (66.4%) in Spanish.

Disease groups revised and/or expanded include Adams-Oliver syndrome, autosomal recessive congenital nystagmus, transient neonatal diabetes mellitus, Cowden syndromes, immmunodeficiencies, and mitochondrial trifunctional protein deficiencies.

Additional revisions were made to tuberous sclerosis, Proteus syndrome, Brown-Vialetto-Van Laere syndrome 2, Peroxisome biogenesis disorder 4B, Ramsay Hunt syndrome, acrocapitofemoral dysplasia, autosomal dominant tubulointerstitial kidney disease 1, Behcet's disease, biotin-responsive basal ganglia disease, bladder diverticulum, Charcot-Marie-Tooth disease type 4K, congenital nystagmus 1, eating disorder, intellectual disability-severe speech delay-mild dysmorphism syndrome, Lambert-Eaton myasthenic syndrome, Libman-Sacks endocarditis, methylmalonic acidemia cblA type, and T-cell adult acute lymphocytic leukemia.

Newly added diseases include autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia; autosomal recessive sensory neuropathy with spastic paraplegia; avoidant/restrictive food intake disorder; desmosterolosis; developmental and epileptic encephalopathy 118; familial hypercholanemia 1-3; Gollop-Wolfgang complex; hamartoma syndrome; immunodeficiency 113; long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; multiple familial trichoepithelioma 1; myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 & 2; neuronal ceroid lipofuscinosis 15; Nil-Deshwan neurodevelopmental syndrome; ReNU syndrome; and X-linked spermatogenic failure 9.

Obsoleted Diseases

ID	label	term replaced by	consider	reason
DOID:0111612	autosomal recessive spinocerebellar ataxia 3		Brown-Vialetto-Van Laere syndrome 2 (DOID:0080786) OR Peroxisome biogenesis disorder 4B (DOID:0081433)	non-existent disease
DOID:0061095	immunodeficiency 130	immunodeficiency 130 with HPV-related verrucosis (DOID:0061171)		duplicate term
DOID:0080191	PTEN hamartoma tumor syndrome	Cowden syndrome 1 (DOID:0050657)		same disease

Unobsoleted Diseases

ID	label
DOID:3462	hamartoma

Full Changelog: v2025-08-01...v2025-08-29

DO July 2025 Release (slightly delayed)

This release of the Human Disease Ontology includes 11,926 disease classes, 9,619 with textual definitions (80.7%).

Diseases revised and expanded include hereditary spastic paraplegias, cherubisms, transient neonatal diabetes mellituses, infantile onset multisystem autoimmune diseases, and autoinflammation, panniculitis, and dermatosis syndromes.

Additional revisions were made to X-linked mental retardation-hypotonic facies syndrome-1, PAPA syndrome, X-linked intellectual disability-short stature-overweight syndrome, colitis, autosomal dominant intellectual developmental disorder 34, congenital heart disease, congenital muscular dystrophy with cataracts and intellectual disability, paroxysmal nonkinesigenic dyskinesia 3, renal tubular acidosis, syndromic X-linked intellectual disability 5, blastoma, pituitary blastoma, pulmonary blastoma, cellular myxoid liposarcoma, mixed liposarcoma, and myxoid liposarcoma.

Newly added diseases include CASGID syndrome, Fliedner-Zweier syndrome, Kariminejad neurodevelopmental syndrome, Ramon syndrome, autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss, autosomal recessive proximal renal tubular acidosis, coarctation of the aorta, immunodeficiency 130 with HPV-related verrucosis, kyphomelic dysplasia, mitochondrial axonal Charcot-Marie-Tooth disease, neurodevelopmental disorder with seizures and gingival overgrowth, proximal renal tubular acidosis, and retinopathy sensory neuropathy syndrome.

Translation files now include 10,887 labels (91.3%), 11,472 synonyms (59.4%), and 3,763 definitions (39.1%) in Spanish. Also, a diff procedure has now been implemented to identify new text for translation and avoid including translations of the original text where it has been modified or removed.

Obsoleted diseases

ID	label	term replaced by
DOID:5709	mixed-type liposarcoma	myxoid liposarcoma (DOID:5363)

Full Changelog: v2025-06-27...v2025-08-01

DO June 2025 Release

This release of the Human Disease Ontology includes 11,895 disease classes, 9,585 with textual definitions (80.6%). Terms with Spanish translation have increased to include 10,837 labels (91.1%), 11,714 synonyms (60.8%), and 2,145 definitions (22.4%).

Diseases revised and expanded include monilethrix diseases, congenital mirror movement disorders, familial isolated hypoparathyroidisms, and congenital ptoses. Additional revisions were made to autosomal dominant limb-girdle muscular dystrophies, autosomal dominant tubulointerstitial kidney diseases, myofibrillar myopathies, viral infectious diseases, autosomal dominant nocturnal frontal lobe epilepsy 4, congenital malabsorptive diarrhea 4, congenital myasthenic syndrome 18, ectodermal dysplasia 14, Fanconi-Bickel syndrome, neonatal-onset type II citrullinemia, visceral heterotaxy 13, and to correct superfluous whitespace in text throughout the ontology.

Newly added diseases include Mulvihill-Smith syndrome and hereditary spastic paraplegia 92.

Obsoleted diseases

ID	label	term replaced by
DOID:0081119	benign familial infantile seizures 6	autosomal dominant nocturnal frontal lobe epilepsy 4 (DOID:0060685)

Full Changelog: v2025-05-30...v2025-06-27

DO May 2025 Release

This release of the Human Disease Ontology includes 11,883 disease classes, 9,573 with textual definitions (80.6%). Terms with Spanish translation have increased to include 10,652 labels (89.6%), 11,714 synonyms (60.8%), and 1,280 definitions (13.4%).

Diseases revised and expanded include viral infectious diseases, arteriosclerotic cardiovascular diseases, complex cortical dysplasia with other brain malformations subtypes, infantile hypercalcemia subtypes, spinocerebellar ataxia subtypes, maturity-onset diabetes of the young, congenital diarrhea 7 with exudative enteropathy, congenital secretory chloride diarrhea 1, developmental and epileptic encephalopathy 86, immunodeficiency 36, cerebellar ataxia type 47, and syndromic microphthalmia 2.

Newly added diseases include complex cortical dysplasia with other brain malformations subtypes, infantile hypercalcemia subtypes, cardiovascular-kidney-metabolic syndrome, ragopathy, Pan-Chung-Bellen syndrome, coronary atherosclerosis, and neurodevelopmental disorder with or without autism or seizures.

Full Changelog: v2025-04-29...v2025-05-30

DO April 2025 Release

This release of the Human Disease Ontology includes 11,870 disease classes, 9,554 with textual definitions (80.5%). Terms with Spanish translation have increased to include 10,447 labels (88%), 11,714 synonyms (60.8%), and 1,280 definitions (13.4%).

Diseases revised and updated include viral infectious diseases, various congenital disease subtypes, citrullinemias, adiaspiromycosis, sickle cell diseases, Christianson syndrome, autosomal dominant intellectual developmental disorder 43, autosomal recessive nonsyndromic deafness 61, combined oxidative phosphorylation deficiency 21, congenital malabsorptive diarrhea 4, progressive multifocal leukoencephalopathy, retinitis pigmentosa 96, and spermatogenic failure 14.

Newly added diseases include subtypes of autosomal recessive limb-girdle muscular dystrophy, autosomal recessive nonsyndromic deafness, immunodeficiency, mucopolysaccharidosis, retinitis pigmentosa, and visceral heterotaxy.

Full Changelog: v2025-03-31...v2025-04-29

DO March 2025 Release

This release of the Human Disease Ontology includes 11,858 disease classes, 9,540 with textual definitions (80.3%). This release also includes a large update expanding the disease text (labels, synonyms, & definitions) in Spanish.

Newly revised and expanded diseases include subtypes for autosomal dominant tubulointerstitial kidney diseases, Carey-Fineman-Ziter syndromes, Perrault syndromes, retinitis pigmentosas, autosomal recessive intellectual developmental disorders, and sitosterolemias. Additionally, revisions have been made to Alkhumra hemorrhagic fever, Alpers-Huttenlocher syndrome, Powassan encephalitis, Billuart-type X-linked syndromic intellectual developmental disorder, cherubism, lissencephaly 1, primary ovarian insufficiency 3, renal cysts and diabetes syndrome, and tibial muscular dystrophy.

Full Changelog: v2025-03-03...v2025-03-31

DO Early March 2025 Release

This release of the Human Disease Ontology includes 11,837 disease classes, 9,519 with textual definitions (80.4%).

Newly added diseases include the new grouping term autosomal dominant primary microcephaly, and numerous genetic subtypes for autosomal dominant intellectual developmental disorder, Carpenter syndrome, congenital disorder of glycosylation, immunodeficiency, myofibrillar myopathy, severe combined immunodeficiency, Charcot-Marie-Tooth disease, and hypertrophic cardiomyopathy.

Various revisions in process or completed are also included in this release. Many viral infectious diseases have been revised to include the latest viral species name in text definitions and to expand logical relationships between diseases and their viral causes in collaboration with the International Committee on Taxonomy of Viruses (ICTV). All defunct Merriam Webster definition source URLs have now been updated to their latest, correct source. Other revisions include spinocerebellar ataxia type 4, IgA vasculitis (previously Henoch-Schoenlein purpura), B-lymphoblastic leukemia/lymphoma with IGH::IL3 fusion, and many more.

Obsoleted diseases

The subtypes of idiopathic generalized epilepsy (now revised to generalized epilepsy) have all been obsoleted. These are not diseases but susceptibilities to disease and were migrated to the OMIM susceptibilities import.

Full Changelog: v2025-02-03...v2025-03-03