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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:Nance-Horan syndrome
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Accession:DOID:0060599 term browser browse the term
Definition:A syndrome 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: Mesiodens-Cataract syndrome;   NHS;   X-linked cataract, with Hutchinsonian teeth;   cataract-dental syndrome
 primary_id: MESH:C538336
 alt_id: OMIM:302350
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO DNA:snp, insertion, nonsense mutations:multiple (human)
ClinVar Annotator: match by OMIM:302350
ClinVar Annotator: match by term: Nance-Horan syndrome
OMIM
ClinVar
PMID:458526, PMID:2246772, PMID:14564667, PMID:15623749, PMID:16736028, PMID:17256798, PMID:18018428, PMID:18949062, PMID:20882036, PMID:23757202, PMID:24968223, PMID:25266737, PMID:25741868, PMID:27148795, PMID:27159028, PMID:28492532, PMID:16736028 RGD:1598795 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Nance-Horan syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          mouth disease 770
            tooth disease 283
              Tooth Abnormalities 150
                Nance-Horan syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.