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ONTOLOGY REPORT - ANNOTATIONS


Term:Nance-Horan syndrome
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Accession:DOID:0060599 term browser browse the term
Definition:A X-linked dominant disease that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO)
Synonyms:exact_synonym: Cataract-Dental Syndrome;   Mesiodens-Cataract Syndrome;   NHS;   X-linked cataract, with Hutchinsonian teeth
 primary_id: MESH:C538336
 alt_id: OMIM:302350;   RDO:0004300
 xref: GARD:7161;   ORDO:627
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Nance-Horan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:1598795
RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      Nance-Horan syndrome 1
Path 2
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  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          eye and adnexa disease 2257
            eye disease 2257
              lens disease 195
                cataract 188
                  Nance-Horan syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.