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RGD uses the Human Disease Ontology (DO, 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:Fryns Hofkens Fabry Syndrome
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Accession:DOID:9003662 term browser browse the term
Synonyms:exact_synonym: Ulna hypoplasia;   Ulnar hypoplasia;   Upper limb mesomelic dysplasia
 primary_id: MESH:C538069;   RDO:0004003
For additional species annotation, visit the Alliance of Genome Resources.

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Fryns Hofkens Fabry Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Ulnar hypoplasia ClinVar PMID:1734721, PMID:2867271, PMID:6162860, PMID:6457059, PMID:6896219, PMID:8095930, PMID:21228398, PMID:21389146, PMID:21417574, PMID:22271886, PMID:22975760, PMID:23321370, PMID:24033266, PMID:25087612, PMID:25572186, PMID:25741868, PMID:27427187, PMID:27821015, PMID:28366028, PMID:28492532, PMID:28670940, PMID:30311386 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Fryns Hofkens Fabry Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Congenital Upper Extremity Deformities 88
                Fryns Hofkens Fabry Syndrome 1
paths to the root


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