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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
 broad_synonym: NHS-RELATED CONDITION
 primary_id: MESH:C538336
 alt_id: MIM:302350
 xref: GARD:7161;   ORDO:627


show annotations for term's descendants           Sort by:
Nance-Horan syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:33,401,122...33,465,427 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091 		JBrowse link
G Nhs NHS actin remodeling regulator ISO
ISS 		DNA:snp, insertion, nonsense mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:302350
ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:458526 PMID:2246772 PMID:9536098 PMID:9837815 PMID:10679936 More... RGD:1598795 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:37,979,629...38,102,656
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:35,517,306...35,623,207 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742 		JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:9837815 PMID:10679936 PMID:14564667 PMID:17256798 PMID:17304053 More... NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      Nance-Horan syndrome 17
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            eye disease 3730
              lens disease 559
                cataract 548
                  Nance-Horan syndrome 17
paths to the root