|
13 | 13 |
|
14 | 14 | ## 2025 Releases |
15 | 15 |
|
16 | | -### [v2025-06-27](https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/v2025-06-27) |
| 16 | +### [v2025-08-01](https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/v2025-08-01) |
17 | 17 |
|
18 | | -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%). |
| 18 | +This release of the Human Disease Ontology includes 11,926 disease classes, 9,619 with textual definitions (80.7%). |
| 19 | + |
| 20 | +Diseases revised and expanded include hereditary spastic paraplegias, cherubisms, transient neonatal diabetes mellituses, infantile onset multisystem autoimmune diseases, and autoinflammation, panniculitis, and dermatosis syndromes. |
19 | 21 |
|
20 | | -Diseases revised and expanded include viral infectious diseases, monilethrix diseases, congenital mirror movement disorders, familial isolated hypoparathyroidisms, congenital ptoses, and myofibrillar myopathies. |
| 22 | +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. |
21 | 23 |
|
22 | | -Newly added diseases include Mulvihill-Smith syndrome and hereditary spastic paraplegia 92. |
| 24 | +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. |
| 25 | + |
| 26 | +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. |
23 | 27 |
|
24 | 28 | ## Obsoleted diseases |
25 | 29 | ID | label | term replaced by |
26 | 30 | ---|---|--- |
27 | | -DOID:0081119 | benign familial infantile seizures 6 | autosomal dominant nocturnal frontal lobe epilepsy 4 (DOID:0060685) |
| 31 | +DOID:5709 | mixed-type liposarcoma | myxoid liposarcoma (DOID:5363) |
28 | 32 |
|
| 33 | +**Full Changelog**: https://github.com/DiseaseOntology/HumanDiseaseOntology/compare/v2025-06-27...v2025-08-01 |
| 34 | + |
| 35 | +| | OWL | OBO | JSON | |
| 36 | +| --- | --- | --- | --- | |
| 37 | +| Disease Ontology | [doid.owl](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/doid.owl) | [doid.obo](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/doid.obo) | [doid.json](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/doid.json) | |
| 38 | +| Human DO | [HumanDO.owl](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/HumanDO.owl) | [HumanDO.obo](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/HumanDO.obo) | | |
| 39 | +| DO Non-Classified | [doid-non-classified.owl](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/doid-non-classified.owl) | [doid-non-classified.obo](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/doid-non-classified.obo) | [doid-non-classified.json](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/doid-non-classified.json) | |
| 40 | +| DO Merged | [doid-merged.owl](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/doid-merged.owl) | [doid-merged.obo](https://raw.githubusercontent.com/DiseaseOntology/HumanDiseaseOntology/v2025-08-01/src/ontology/doid-merged.obo) | | |
| 41 | + |
| 42 | +### [v2025-06-27](https://github.com/DiseaseOntology/HumanDiseaseOntology/tree/v2025-06-27) |
| 43 | + |
| 44 | +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%). |
| 45 | + |
| 46 | +Diseases revised and expanded include viral infectious diseases, monilethrix diseases, congenital mirror movement disorders, familial isolated hypoparathyroidisms, congenital ptoses, and myofibrillar myopathies. |
| 47 | + |
| 48 | +Newly added diseases include Mulvihill-Smith syndrome and hereditary spastic paraplegia 92. |
| 49 | + |
| 50 | +## Obsoleted diseases |
| 51 | +ID | label | term replaced by |
| 52 | +---|---|--- |
| 53 | +DOID:0081119 | benign familial infantile seizures 6 | autosomal dominant nocturnal frontal lobe epilepsy 4 (DOID:0060685) |
| 54 | + |
29 | 55 | **Full Changelog**: https://github.com/DiseaseOntology/HumanDiseaseOntology/compare/v2025-05-30...v2025-06-27 |
30 | 56 |
|
31 | 57 | | | OWL | OBO | JSON | |
|
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