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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 NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        Dwarfism 486
          Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              Neurodevelopmental Disorders 4534
                Developmental Disabilities 504
                  Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay 1
paths to the root