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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:Camptodactyly Syndrome Guadalajara Type 1
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Accession:DOID:9005594 term browser browse the term
Synonyms:exact_synonym: Camptodactyly Syndrome, Guadalajara, Type I;   FTSS;   GCS1;   Guadalajara camptodactyly syndrome;   facio-thoraco-skeletal syndrome;   faciothoracoskeletal syndrome
 primary_id: MESH:C537970
 alt_id: OMIM:211910
 xref: GARD:1067
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20175
    syndrome 9017
      Camptodactyly Syndrome Guadalajara Type 0
        Camptodactyly Syndrome Guadalajara Type 1 0
Path 2
Term Annotations click to browse term
  disease 20175
    Developmental Disease 13745
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11251
        Congenital Abnormalities 6727
          Musculoskeletal Abnormalities 2601
            Congenital Limb Deformities 516
              Congenital Upper Extremity Deformities 107
                Congenital Hand Deformities 84
                  Camptodactyly Syndrome Guadalajara Type 0
                    Camptodactyly Syndrome Guadalajara Type 1 0
paths to the root