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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
For additional species annotation, visit the Alliance of Genome Resources.

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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      Nance-Horan syndrome 1
Path 2
Term Annotations click to browse term
  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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