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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:A syndrome 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.



show annotations for term's descendants           Sort by:
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 chr20:28,114,387...28,152,046
Ensembl chr20:28,114,404...28,121,807
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Flnb filamin B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome
OMIM
CTD
ClinVar
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    Wounds and Injuries 916
      Joint Dislocations 23
        Larsen syndrome 3
Path 2
Term Annotations click to browse term
  disease 18203
    Developmental Disease 13119
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11888
        Congenital Abnormalities 6833
          Musculoskeletal Abnormalities 2836
            Craniofacial Abnormalities 2398
              Maxillofacial Abnormalities 289
                Jaw Abnormalities 243
                  orofacial cleft 139
                    cleft lip 55
                      Larsen syndrome 3
paths to the root