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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:SHORT STATURE-MICROGNATHIA SYNDROME
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Accession:DOID:9005682 term browser browse the term
Definition:This disease has core features of intrauterine growth restriction (IUGR): postnatal short stature that is often rhizomelic and micrognathia.
Synonyms:exact_synonym: ARCN1-RELATED CONDITION;   Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay;   SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY;   SRMMD;   SSMG
 primary_id: OMIM:617164

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SHORT STATURE-MICROGNATHIA SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: ARCN1-related condition | ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27476655 PMID:28492532 PMID:31075182 PMID:33154040 More... NCBI chrNW_004624784:13,973,631...14,011,921
Ensembl chrNW_004624784:13,973,551...14,013,693 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      endocrine system disease 5515
        Dwarfism 787
          SHORT STATURE-MICROGNATHIA SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      nervous system disease 12060
        central nervous system disease 10811
          brain disease 10142
            disease of mental health 7272
              Neurodevelopmental Disorders 6147
                Developmental Disabilities 743
                  SHORT STATURE-MICROGNATHIA SYNDROME 1
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