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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:Duane-radial ray syndrome
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Accession:DOID:0060747 term browser browse the term
Definition:A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: DR syndrome;   DRRS;   Duane anomaly with radial abnormalities and deafness;   Duane anomaly with radial ray abnormalities and deafness;   Okihiro syndrome;   SALL4-RELATED CONDITION;   acro-renal-ocular syndrome;   acrorenocular syndrome
 broad_synonym: SALL4-RELATED DISORDER
 primary_id: MIM:607323
 xref: GARD:9182;   MONDO:0011812;   ORDO:93293



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Duane-radial ray syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp9a ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Duane-radial ray syndrome ClinVar PMID:11826030 PMID:15342710 NCBI chr 3:157,360,354...157,467,628
Ensembl chr 3:157,360,359...157,467,818
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO
ISS
ClinVar Annotator: match by term: Duane-radial ray syndrome | ClinVar Annotator: match by term: SALL4-related disorder
OMIM:607323
OMIM
ClinVar
MouseDO
RGD
PMID:843249 PMID:8025439 PMID:8287186 PMID:9536098 PMID:11826030 More... RGD:155631313 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Duane-radial ray syndrome 2
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        genetic disease 13283
          monogenic disease 10664
            autosomal genetic disease 9837
              autosomal dominant disease 6521
                Duane-radial ray syndrome 2
paths to the root