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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:Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay
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Accession:DOID:9005682 term browser browse the term
Synonyms:exact_synonym: SRMMD
 primary_id: OMIM:617164
For additional species annotation, visit the Alliance of Genome Resources.



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Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 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: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
ClinVar
OMIM
PMID:25741868 PMID:27476655 PMID:31075182 PMID:33154040 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      endocrine system disease 5840
        Dwarfism 504
          Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              Neurodevelopmental Disorders 5718
                Developmental Disabilities 565
                  Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 1
paths to the root