DO May 2024 release

In this release of the Human Disease Ontology, all cross-references to OMIM in all files have had their prefixes changed from 'OMIM' to 'MIM' to align with OMIM. Prefixes will stably remain 'MIM' going forward. We apologize for any inconvenience this may cause.

There are now 11,575 disease classes, 9,237 with textual definitions (79.8%) in the ontology with revisions and additions to amino acid metabolic disorders, polycystic kidney diseases, galactosemias, hypotrichosis, episodic ataxias, Loeys-Dietz syndromes, orofaciodigital syndrome, and holoprosencephalies.

What's Changed

• Implement OMIM-to-MIM prefix change requested by OMIM by @allenbaron in #1334

Full Changelog: v2024-04-30...v2024-05-29

DO April Release

The DO's April 2024 release includes: 11,550 human disease terms. This release includes classification revisions for anemia, and B-cell lymphoma; the addition of genes to additional DOID definitions; the addition of disease subtypes for: cone-rod dystrophy; amelogenesis imperfecta, anemia, Ullrich congenital muscular dystrophy and autosomal recessive intellectual developmental disorder 82; the addition of new DOIDs: interstitial lung disease, large B-cell lymphoma, hyperimmunoglobulinemia D periodic fever syndrome, and PFAPA syndrome.

DO March 2024 Release

This release includes 11,537 disease terms; 8,419 SubClassOf axioms. The addition of 26 new disease terms. This month the DO was updated, we added Peroxisome biogenesis disorder and dystonia subtypes, reclassified Zellweger syndrome subtypes, updated frontotemporal dementia and/or amyotrophic lateral sclerosis and Ohdo syndrome subtype nomenclature, added neurodevelopmental disorder with poor growth and behavioral abnormalities, Stolerman neurodevelopmental syndrome, Nicolaides-Baraitser syndrome, blepharophimosis-impaired intellectual development syndrome, and microcephaly-micromelia syndrome and microcephaly, short stature, Halperin-Birk syndrome and limb abnormalities; revised Lisch epithelial corneal dystrophy.

DO February 2024 release

This release of the Human Disease Ontology includes 11,511 disease classes, 9,160 with textual definitions (79.6%). Diseases that have been revised and/or expanded include CACNA1C-related diseases, long QT syndromes, LAL-D, ARVC, autosomal recessive distal hereditary motor neuronopathy 8, Pick's disease, hyper IgM syndromes, hypoparathyroidism, parasitic protozoa infectious diseases, and Canavan disease. New diseases include 'syndromic X-linked intellectual developmental disorder bain type', SPATCCM, ACM subtypes, 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy', 'developmental delay, dysmorphic facies, and brain anomalies', and 'infantile hypotonia with psychomotor retardation and characteristic facies-3'.

Full Changelog: v2024-01-31...v2024-02-28

DO January 2024 release

This release of the Human Disease Ontology includes 11,501 disease classes, 9,146 with textual definitions (79.5%). Diseases that have been revised and expanded include aniridia, osteosarcomas, distal spinal muscular atrophies, distal hereditary motor neuropathies, peeling skin syndromes, pyridoxine-dependent epilepsies, and Graves disease. New diseases include foveal hypoplasias, developmental dysplasias of the hip, familial focal epilepsies with variable foci, dystonia subtypes, Sifrim-Hitz-Weiss syndrome, cepacia syndrome, round cell sarcoma subtypes, Borrelia miyamotoi disease, PLACK syndrome, familial multiple lipomatosis, and retinal macular dystrophy 2. A number of definitions have additionally been updated with NHGRI sources and xrefs to obsolete EFO terms have been removed.

Full Changelog: v2023-12-20...v2024-01-31

DO December 2023 release

This release of the Human Disease Ontology includes 11,454 disease classes, 9,093 with textual definitions (79.4%). Revisions have been made to sarcomas and rare diseases. New diseases include Schinzel Giedion Syndrome, inflammatory poikiloderma with hair abnormalities and acral keratoses (LIPHAK syndrome), polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE syndrome), Mitchell syndrome, and a number of rare neurodevelopmental syndromes.

Full Changelog: v2023-11-30...v2023-12-20

DO November 2023 release

This release of the Human Disease Ontology includes 11,432 disease classes, 9,071 with textual definitions (79.3%). New diseases include mito complex 4 disease subtypes, Caroli syndrome, dopamine transporter deficiency syndromes, Zaki syndrome, chromosome 1p36.33 duplication syndrome, digenic diseases, and cerebellar ataxia disease subtypes. Revisions have been made to steatotic liver disease and NAFLD to match recent international consensus, dystal myopathies, and frontotemporal dementias.

Full Changelog: v2023-10-21...v2023-11-30

DO's mid October 2023 release

This DO release includes 11,386 diseases, 8,276 SubClassOf and 726 EQ axioms. This release includes the addition of 13 disease terms, 19 definitions, 25 SubClassOf axioms and 1 EQ axiom. New and revised content includes: added synonyms for autosomal recessive spinocerebellar ataxia; the addition of autosomal recessive spinocerebellar ataxia, amyotrophic lateral sclerosis subtypes; revised classifications for schwannomatosis and neurofibromatosis, rhabdomyosarcoma,;the addition of new disease terms: Legius syndrome and Watson syndrome, diphthamide deficiency syndrome and subtypes, renal medullary carcinoma; augmentation of the DO_cancer_slim, updated nomenclature for thyroid cancer and a revised NCIthesaurus slim, produced programmatically based on NCI xrefs or skis mappings.

DO September 2023 release

This release of the Human Disease Ontology includes 11,373 disease classes, 9,003 with textual definitions (79.2%). Updates include revised mappings based on UMLS 2023AA; the addition of early-onset epilepsy 2 & 3, Yoon-Bellen neurodevelopmental syndrome, NEDDFAC, SCAN3 and updates to other SCAN diseases; revision of viral infectious diseases to incorporate official viral nomenclature changes from ICTV; reactivation of Epstein-Barr virus infectious disease; and various definition updates & corrections.

DO early August release

This release includes a major fix to recently added diseases. Five diseases were added in the June 2023 release with duplicate IRIs matching historically obsoleted diseases (pre-2015). These diseases with duplicate IRIs have been deleted and re-added with new, unique IRIs as follows:

• disabling pansclerotic morphea, DOID:0080002 -> DOID:0081373
• nemaline myopathy 5B, DOID:0080003 -> DOID:0081374
• nemaline myopathy 5C, DOID:0080004 -> DOID:0081375
• sorbitol dehydrogenase deficiency with peripheral neuropathy, DOID:0080025 -> DOID:0081376
• COX deficiency, benign infantile mitochondrial myopathy, DOID:0080035 -> DOID:0081377

If at all possible, use THIS release instead of the June and July releases (v2023-06-29, v2023-07-20 & v2023-07-24).

We apologize for any inconvenience this may have caused.