Published November 2, 2018
| Version v2018-11-01
Software
Open
monarch-initiative/mondo: 2018-11-01 release
Authors/Creators
- 1. Lawrence Berkeley National Laboratory
Description
2018-11-01 release
- relabeled MONDO:0011652 to Phelan McDermid syndrome fixes #442
- NT: microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, fixes #444
- clarifying subtypes of congenital bilateral absence of vas deferens, fixes #426
- Adding additional equivalence axioms to other ontologies; improved ONCOTREE/NCIT/MONDO alignment
- Adding additional logical defs
- Fixed casing of multiple labels and synonyms, using https://github.com/EBISPOT/efo/issues/274
- Fixed scope of many syns, changed related->exact where appropriate
- biliary atresia disorder
- dysostosis with brachydactyly with extraskeletal manifestations
- dysostosis with brachydactyly without extraskeletal manifestations
- overgrowth or tall stature syndrome with skeletal involvement
- gastroenteric neuroendocrine neoplasm
- autosomal recessive severe congenital neutropenia
- extraoral halitosis due to methanethiol oxidase deficiency
- intellectual developmental disorder with hypertelorism and distinctive facies
- deafness, autosomal recessive 111
- usher syndrome, type 4
- spermatogenic failure 34
- spermatogenic failure 33
- Saul-Wilson syndrome
- orofacial cleft 8
- epileptic encephalopathy, early infantile, 67
- muscular dystrophy, limb-girdle, autosomal dominant 4
- liddle syndrome 3
- peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
- polydactyly, postaxial, type A8
- deafness, autosomal dominant 74
- muscular dystrophy, limb-girdle, autosomal recessive 23
- muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
- immunodeficiency 58
- glycosylphosphatidylinositol biosynthesis defect 18
- vaginal adenocarcinoma
- immature teratoma of vulva
- mixed germ cell tumor of vulva
- germ cell tumor of the vulva
- upper tract urothelial carcinoma
- infiltrating ureter transitional cell carcinoma
- human papillomavirus-related squamous cell carcinoma
- human papillomavirus-related penile squamous cell carcinoma
- juvenile ankylosing spondylitis
- renal pelvis/ureter urothelial carcinoma
- polycystic kidney disease
- warty carcinoma of the penis
- rubella encephalitis
- microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- ocular adnexal lymphoma
- autosomal dominant osteopetrosis
- lung non-Hodgkin lymphoma
- autism susceptibility 1
- http://purl.obolibrary.org/obo/MONDO_0017206 term replaced by* intraocular lymphoma
- http://purl.obolibrary.org/obo/MONDO_0018732 term replaced by* primary central nervous system lymphoma
- obsolete human papillomavirus type 18 integration site 2 not a disease
- obsolete human papillomavirus type 18 integration site 1 not a disease
Files
monarch-initiative/mondo-v2018-11-01.zip
Files
(14.2 MB)
| Name | Size | Download all |
|---|---|---|
|
md5:888d6a0cbc0cdceb2d4cd5d13736ea21
|
14.2 MB | Preview Download |
Additional details
Related works
- Is supplement to
- https://github.com/monarch-initiative/mondo/tree/v2018-11-01 (URL)