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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Thinness
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Accession:DOID:9005768 term browser browse the term
Definition:A state of insufficient flesh on the body usually defined as having a body weight less than skeletal and physical standards. Depending on age, sex, and genetic background, a BODY MASS INDEX of less than 18.5 is considered as underweight.
Synonyms:exact_synonym: Leanness;   Underweight
 narrow_synonym: Leanness, inherited
 primary_id: MESH:D013851;   RDO:0006688
For additional species annotation, visit the Alliance of Genome Resources.


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Thinness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agrp agouti related neuropeptide ISO ClinVar Annotator: match by term: Leanness, inherited ClinVar PMID:11602360, PMID:12213871, PMID:15054840 NCBI chr19:37,525,941...37,584,875
Ensembl chr19:37,526,419...37,528,011
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:10578024 RGD:10045866 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
CK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by OMIM:300831 OMIM
ClinVar
PMID:19377476, PMID:21129721 NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Pathological Conditions, Signs and Symptoms 8735
      Signs and Symptoms 5235
        Body Weight 960
          Thinness 4
            CK syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.