Sentence examples for disorder terms from inspiring English sources

In order to find significant associations between phenotype candidates and disorder terms we chose to use literature indexing as our intermediate feature set.

Then we applied AR mining on the set of remaining terms and a collection of disorder terms from OMIM (described later).

They have with the initial phases succeeded to translate a fifth of the disorder terms into Basque and a tenth of the terms for body structures.

In the former, mentions of disorder terms were annotated and mapped to corresponding concepts in the SNOMED CT terminology [ 44], whose disorder semantic group covers phenotypic information.

Results are promising as we obtained the equivalents in Basque of 21.41% of the disorder terms of the English SNOMED CT release.

In addition, keywords were mapped to subject headings (MeSH headings) in MEDLINE to identify synonyms for 'epidemiological'thoraciccic spine' and 'musculoskeletal disorder' terms.

This is exemplified by the Foxp3-linked disorder termed IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked) which affects newborn children.

Although TD is distinct syndrome in that the phenotype is explicitly defined by reproducibly poor performance on the DTT, it may be related to a disorder termed congenital amusia, which is defined using different criteria [4], [5].

Finally, there is also a related disorder termed PHP type 2, which is characterized by hypocalcemia, PTH resistance, absence of AHO, and no GNAS mutations.

The bone marrow findings in these patients were consistent with a surprisingly homogeneous disorder termed "primary CA-associated lymphoproliferative disease" by the authors and distinct from LPL, MZL, and other previously recognized lymphoma entities.

A single report of heteroallelic mutations in one individual in ALG2 has previously been reported (Thiel et al., 2003), which caused a severe multisystem disorder, termed CDG type Ii (MIM 607906).