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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: MIM:304150
 xref: GARD:4017;   ORDO:198


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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 DNA:transversion:intron:g.IVS10+3A>T (human)
DNA:snp:intron:c.2553+3A>C (mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: Occipital horn syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 More... RGD:11252184, RGD:11340205 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      Ehlers-Danlos syndrome 257
        occipital horn syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              Skin Abnormalities 1321
                Ehlers-Danlos syndrome 257
                  occipital horn syndrome 1
paths to the root