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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:occipital horn syndrome
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Accession:DOID:0111272 term browser browse the term
Definition:A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. (DO)
Synonyms:exact_synonym: EDS IX;   EDS9;   Ehlers-Danlos syndrome type 9;   Ehlers-Danlos syndrome type IX;   Ehlers-Danlos syndrome, occipital horn type;   OHS;   X-linked cutis laxa
 primary_id: MESH:C537860
 alt_id: OMIM:304150
 xref: GARD:4017;   ORDO:198
For additional species annotation, visit the Alliance of Genome Resources.


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occipital horn syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by OMIM:304150
DNA:transversion:intron:g.IVS10+3A>T (human)
DNA:snp:intron:c.2553+3A>C (mouse)
ClinVar Annotator: match by term: EDS IX
ClinVar Annotator: match by term: Cutis laxa, X-linked
ClinVar Annotator: match by term: Occipital horn syndrome
OMIM
ClinVar
PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 PMID:10570920 PMID:10739752 PMID:11241493 PMID:11431706 PMID:17108763 PMID:18414213 PMID:20045993 PMID:23281160 PMID:24033266 PMID:25741868 PMID:28492532, PMID:9467005, PMID:7887410 RGD:11252184, RGD:11340205 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Ehlers-Danlos syndrome 116
        occipital horn syndrome 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Hemic and Lymphatic Diseases 2175
        hematopoietic system disease 1760
          blood coagulation disease 641
            hemorrhagic disease 631
              vascular hemostatic disease 311
                Ehlers-Danlos syndrome 116
                  occipital horn syndrome 1
paths to the root