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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: MIM: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 chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: ARCN1-related condition ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      endocrine system disease 7033
        Dwarfism 878
          SHORT STATURE-MICROGNATHIA SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              Neurodevelopmental Disorders 6965
                Developmental Disabilities 764
                  SHORT STATURE-MICROGNATHIA SYNDROME 2
paths to the root