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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:SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
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Accession:DOID:9008465 term browser browse the term
Definition:A disease characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly.
Synonyms:exact_synonym: SKJLABA;   mild skeletal dysplasia with joint laxity and advanced bone age
 primary_id: OMIM:618870
For additional species annotation, visit the Alliance of Genome Resources.



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SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM
ClinVar
PMID:25741868 PMID:27599773 PMID:28492532 PMID:31325655 PMID:31705726 NCBI chr16:20,995,210...21,330,586
Ensembl chr16:21,235,784...21,330,319
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      endocrine system disease 6214
        Dwarfism 692
          SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    Macrocephaly 69
                      SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE 1
paths to the root