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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


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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 PMID:25741868 NCBI chr19:33,447,992...33,481,602
Ensembl chr19:33,447,992...33,449,584 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:serum: RGD PMID:10578024 RGD:10045866 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
CK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:21290788 PMID:25741868 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Body Weight 1078
          Thinness 3
            CK syndrome 1
paths to the root