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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 LIMB SHORTENING WITH DYSMORPHIC FEATURES
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Accession:DOID:9003152 term browser browse the term
Definition:A disease characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia.
Synonyms:exact_synonym: RLSDF
 primary_id: OMIM:618821
For additional species annotation, visit the Alliance of Genome Resources.


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RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkdcc protein kinase domain containing, cytoplasmic ISO ClinVar Annotator: match by term: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES OMIM
ClinVar
PMID:30478137 NCBI chr 6:6,427,657...6,436,974
Ensembl chr 6:6,427,657...6,436,974
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      bone development disease 1326
        RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Skin and Connective Tissue Diseases 4984
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES 1
paths to the root