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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:Larsen syndrome
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Accession:DOID:14764 term browser browse the term
Definition:Asyndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. (DO)
Synonyms:exact_synonym: LRS;   Larsen syndrome, autosomal dominant;   Larsen syndrome, dominant type;   dominant Larsen syndrome
 related_synonym: FLNB-related spectrum disorder;   FLNB-related spectrum disorders
 primary_id: MESH:C537873
 alt_id: OMIM:150250
 xref: GARD:6860
For additional species annotation, visit the Alliance of Genome Resources.


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Larsen syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr20:29,731,828...29,768,656
Ensembl chr20:29,731,816...29,738,506
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by OMIM:150250
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders
ClinVar Annotator: match by term: Larsen syndrome, dominant type
OMIM
ClinVar
CTD
PMID:14991055, PMID:16648377, PMID:16752402, PMID:16801345, PMID:18322662, PMID:24123776, PMID:25741868, PMID:27048506, PMID:28492532, PMID:30311386 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Larsen Syndromes 5
        Larsen syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft palate 96
                      Larsen syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.