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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:Obesity, Hyperphagia, and Developmental Delay
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Accession:DOID:9008733 term browser browse the term
Synonyms:exact_synonym: OBHD
 broad_synonym: NTRK2-RELATED CONDITION
 primary_id: MESH:C563938
 alt_id: OMIM:613886



show annotations for term's descendants           Sort by:
Obesity, Hyperphagia, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15494731 PMID:25741868 PMID:27884935 PMID:28492532 PMID:29100083 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Neurodevelopmental Disorders 6821
        Developmental Disabilities 775
          Obesity, Hyperphagia, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            disease of mental health 8291
              Neurodevelopmental Disorders 6821
                Developmental Disabilities 775
                  Obesity, Hyperphagia, and Developmental Delay 1
paths to the root