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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:Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
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Accession:DOID:9003081 term browser browse the term
Synonyms:exact_synonym: GDFD;   GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM
 primary_id: MESH:C567856;   RDO:0012068
 alt_id: OMIM:612938
For additional species annotation, visit the Alliance of Genome Resources.


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Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death
ClinVar Annotator: match by OMIM:612938
OMIM
ClinVar
PMID:19559399, PMID:19833892, PMID:20299471, PMID:23505181, PMID:23825611, PMID:24289790, PMID:25741868, PMID:26378117, PMID:26820768, PMID:27105045, PMID:28492532 NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Pathological Conditions, Signs and Symptoms 8720
      Signs and Symptoms 5192
        Failure to Thrive 34
          Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            disease of mental health 5992
              Neurodevelopmental Disorders 4557
                Developmental Disabilities 641
                  Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
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.