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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:Hamamy Syndrome
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Accession:DOID:9006817 term browser browse the term
Synonyms:exact_synonym: HMMS;   severe hypertelorism with midface prominence, myopia, mental retardation, and bone fragility
 primary_id: MESH:C566988
 alt_id: OMIM:611174;   RDO:0015180
For additional species annotation, visit the Alliance of Genome Resources.


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Hamamy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by OMIM:611174 OMIM
ClinVar
PMID:17230486 PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Hamamy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    Hamamy Syndrome 1
paths to the root