This release of the Human Disease Ontology includes 12,247 disease classes, 9,975 with textual definitions (81.4%). Translation files include 11,817 labels, 11,456 synonyms, and 6,568 definitions in Spanish.

Disease groups revised and/or expanded include breast cancer, acrofrontofacionasal dysostosis, autosomal dominant intellectual developmental disorder, idiopathic generalized epilepsy, retinitis pigmentosa, spermatogenic failure, Charcot-Marie-Tooth disease, Coffin-Siris syndrome, adermatoglyphia, brachydactyly, and split hand-foot malformation.

Additional diseases added include:

• Alsahan-Harris syndrome
• autosomal dominant adult-onset leukodystrophy without amyloid angiopathy
• cataract alopecia oral mucosal disorder and psoriasis-like syndrome
• congenital nonprogressive movement disorder with ataxia and eye movement abnormalities
• craniofaciocardiohepatic syndrome
• Dursun-Ozgul neurodevelopmental syndrome
• FICUS syndrome
• Guillouet-Gordon syndrome
• hydroxyprolinemia
• hyposulfatemia with skeletal dysplasia
• ICHAD syndrome
• immunodysregulation with variable immunodeficiency and autoimmunity
• isolated glycolic aciduria
• neurodevelopmental disorder with intellectual, visual, and language impairment
• neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections

Additional diseases revised include:

• autosomal dominant polycystic kidney disease
• boutonneuse fever
• collecting duct carcinoma
• diffuse midline glioma, H3 K27-altered
• early-onset vitamin B6-dependent epilepsy 1
• Fanconi-Bickel syndrome
• FG syndrome
• Gaucher's disease type I
• generalized epilepsy with febrile seizures plus
• hand-foot-genital syndrome
• hepatic osteogenic sarcoma
• liposarcoma of bone
• malignant fibrous histiocytoma of bone
• mediastinal osteogenic sarcoma
• Mononen-Karnes-Senac syndrome
• motor peripheral neuropathy
• multifocal motor neuropathy
• multiple acyl-CoA dehydrogenase deficiency
• Rubinstein-Taybi syndrome
• vitamin B12 deficiency

Obsoleted Diseases

Full Changelog: v2026-06-30...v2026-07-31

This release of the Human Disease Ontology includes 12,221 disease classes, 9,948 with textual definitions (81.4%). Translation files include 11,818 labels, 11,459 synonyms, and 6,569 definitions in Spanish.

Disease groups revised and/or expanded include breast cancer, gingival fibromatosis, periodontal disease, thalassemia, primary ciliary dyskinesia, retinitis pigmentosa, and Paget disease of bone.

Additional diseases added include Damseh-Danson neurodevelopmental disorder; impaired intellectual development and distinctive facial features with or without cardiac defects; syndromic X-linked intellectual developmental disorder, Snijders Blok type; and peri-implant diseases.

Obsoleted Diseases

Full Changelog: v2026-05-30...v2026-06-30

This release of the Human Disease Ontology includes 12,191 disease classes, 9,914 with textual definitions (81.3%). Translation files include 11,820 labels, 11,461 synonyms, and 6,570 definitions in Spanish.

Disease groups revised & expanded include chronic progressive external ophthalmoplegia, dentin dysplasia, developmental and epileptic encephalopathy, multiple mitochondrial dysfunctions syndrome, mitochondrial DNA depletion syndrome, spermatogenic failure, mitochondrial myopathy, & mitochondrial metabolism diseases.

Disease groups revised include various autosomal genetic diseases (Alzheimer's disease, agammaglobulinemia, amelogenesis imperfecta, chromsomal diseases, common variable immunodeficiency, etc.), chronic kidney disease, complex cortical dysplasia with other brain malformations, and syndromic microphthalmia.

Full Changelog: v2026-04-30...v2026-05-30

Additional new diseases

• adult-onset leukoencephalopathy without lacunae
• Al Kaissi syndrome
• autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures
• cerebellar atrophy with seizures and variable developmental delay
• cerebellar atrophy, developmental delay, and seizures
• combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
• congenital facial palsy with ptosis and velopharyngeal dysfunction
• dental radicular dysplasia
• developmental delay with sleep apnea
• developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies
• dyschromatosis, ichthyosis, deafness, and atopic disease
• early childhood-onset progressive leukodystrophy
• early-onset progressive encephalopathy with brain atrophy and spasticity
• episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy
• familial juvenile hyperuricemic nephropathy 3
• Harel-Tora neurodevelopmental syndrome
• HELIX syndrome
• immune dysregulation, neurodevelopmental defects, and colitis
• immunodeficiency, developmental delay, and hypohomocysteinemia
• joint laxity, short stature, and myopia
• Mendez-Johnson immunoneurologic syndrome
• mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures
• neurocardiorenal malformation syndrome
• neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
• neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia
• neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
• neurodevelopmental disorder with microcephaly, ataxia, and seizures
• neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
• neurodevelopmental disorder with speech delay and behavioral abnormalities
• neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
• neurodevelopmental disorder with variable motor and speech impairment
• Pilarowski-Bjornsson syndrome
• Popov-Chang syndrome
• progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia
• Ramond-Elliott neurodevelopmental syndrome
• recurrent respiratory papillomatosis
• Valence-Farazi cerebellar ataxia syndrome

Additional revised diseases

• acromelic frontonasal dysostosis
• autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures
• diffuse midline glioma, H3 K27-altered
• DiGeorge syndrome
• Down syndrome
• epidermodysplasia verruciformis
• focal epithelial hyperplasia
• retinitis pigmentosa 101
• skin squamous cell carcinoma

Obsoleted Diseases

This release of the Human Disease Ontology includes 12,127 disease classes, 9,848 with textual definitions (81.2%). Translation files now include 11,825 labels (97.5%), 11,462 synonyms (58.6%), and 6,579 definitions (66.8%) in Spanish.

Disease groups revised & expanded include Alport syndrome, glycogen storage disease, hydrocephalus, kidney disease, Meckel syndrome, neuropathies/HSANs, and viral encephalitis. While new subtypes have been added for Galloway-Mowat syndrome, Hermansky-Pudlak syndrome, Parkinson's disease, and retinitis pigmentosa.

Additional new diseases include craniosynostosis-scoliosis syndrome; Davis-Wells syndrome; lobodontia; small fiber neuropathy; STAD syndrome; Zeitz-Han retinal dystrophy; Ebstein-Bezieau neurodevelopmental syndrome; Luo-Agrawal neurodevelopmental syndrome; neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities; neurodevelopmental disorder with seizures, hypotonia, and variable spasticity; neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter; X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities; and Yu-Kury neurodevelopmental syndrome.

Additional revised diseases include autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1; autosomal recessive nonsyndromic deafness subtypes; developmental and epileptic encephalopathy 25; early-onset obesity, adrenal insufficiency, and red hair; environmentally induced asthma; epidermolysis bullosa simplex & subtypes; isolated microphthalmia & syndromic microphthalmia 16; and spermatogenic failure.

No terms changed obsoletion status in this release.

Full Changelog: v2026-03-31...v2026-04-30

This release of the Human Disease Ontology includes 12,079 disease classes, 9,796 with textual definitions (81.1%). Translation files now include 11,839 labels (98.0%), 11,470 synonyms (58.8%), and 6,589 definitions (67.3%) in Spanish.

Disease groups revised and/or expanded include aggressive periodontitis, autosomal recessive nonsyndromic deafness, Charcot-Marie-Tooth disease, congenital hypomyelinating neuropathy, congenital myopathy, dilated cardiomyopathy, familial hyperaldosteronism, lethal congenital contracture syndrome, Meier-Gorlin syndrome, periventricular nodular heterotopia, primary autosomal recessive microcephaly, Senior-Loken syndrome, spondylocostal dysostosis, Weill-Marchesani syndrome, hereditary sensory neuropathy/hereditary sensory and autonomic neuropathy, and retinal vascular occlusion, along with a small number of cancers, allergies/dermatitis, and individual diseases.

Other new diseases include diethylstilbestrol syndrome; early-onset obesity, adrenal insufficiency, and red hair; Ferguson-Bonni neurodevelopmental syndrome; Fontaine progeroid syndrome; intellectual developmental disorder with seizures and dysmorphic facies; neurodegenerative disorder with cerebellar and caudate atrophy; neurodevelopmental disorder with hypotonia, epilepsy, and absent speech; neurodevelopmental disorder with parkinsonism or other movement abnormalities; neurodevelopmental disorder with seizures and impaired intellectual and language development; and neurodevelopmental disorder with speech delay, movement abnormalities, and seizures.

A large update to UMLS-managed cross-references is also included.

No terms changed obsoletion status in this release.

Full Changelog: v2026-02-28...v2026-03-31

This release of the Human Disease Ontology includes 12,021 disease classes, 9,737 with textual definitions (81.0%). Translation files now include 11,848 labels (98.6%), 11,477 synonyms (59.0%), and 6,604 definitions (67.8%) in Spanish.

Diseases that have been revised and expanded include periventricular nodular heterotopia, Stargardt disease, Axenfeld-Rieger syndrome, familial glucocorticoid deficiency, and Nil-Deshwar neurodevelopmental syndrome.

Additional newly added diseases include aggressive periodontitis 1 and Snijders Blok-Campeau syndrome.

Full Changelog: v2026-02-02...v2026-02-28

Obsoleted Diseases

This release of the Human Disease Ontology includes 12,012 disease classes, 9,728 with textual definitions (81.0%). Translation files now include 11,851 labels (98.7%), 11,479 synonyms (59.0%), and 6,609 definitions (68.0%) in Spanish.

Select revised and/or expanded diseases include brain small vessel diseases, Camurati-Engelmann diseases, CADASIL, enhanced S-cone syndromes, multiple mitochondrial dysfunctions syndrome, primary ciliary dyskinesias, CANVAS, and dental caries.

Additionally included in this release are updates to cross-references for various diseases and expanded use of logical definitions using has disease driver.

Full Changelog: v2025-12-23...v2026-02-02

This release of the Human Disease Ontology includes 12,001 disease classes, 9,717 with textual definitions (81.0%). Translation files now include 11,853 labels (98.8%), 11,482 synonyms (59.0%), and 6,615 definitions (68.1%) in Spanish.

Newly added diseases include interleukin-1 receptor antagonist deficiency, lipofibromatosis, and two new subtypes of infantile myofibromatosis accompanied by update of infantile myofibromatosis.

Additional revisions in this release include updates to diseases (autosomal recessive primary microcephaly, developmental and epileptic encephalopathy 6B, systemic juvenile rheumatoid arthritis), expanded subsets, and fixes to definition grammar & formatting.

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

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

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