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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:Norrie disease
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Accession:DOID:0060844 term browser browse the term
Definition:A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: Anderson-Warburg syndrome;   Congenital Progressive Oculo-Acoustico-Cerebral Degeneration;   Episkopi blindness;   Fetal Iritis Syndrome;   ND;   Norrie syndrome;   Norrie's Disease;   Norrie-Warburg disease;   Norrie-Warburg syndrome;   Oligophrenia Microphthalmus;   Pseudoglioma;   Whitnall-Norman syndrome;   atrophia bulborum hereditaria;   pseudoglioma congenita
 primary_id: MESH:C537849
 alt_id: OMIM:310600
 xref: GARD:7224;   NCI:C118634;   ORDO:649



show annotations for term's descendants           Sort by:
Norrie disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD4 frizzled class receptor 4 ISS
IAGP
OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO
ClinVar
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP
EXP
ISS
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
CTD Direct Evidence: marker/mechanism
OMIM:310600
ClinVar
OMIM
CTD
MouseDO
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G NDP-AS1 NDP antisense RNA 1 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:43,949,732...43,971,552
Ensembl chr  X:43,949,732...43,971,582
JBrowse link
G PRSS23 serine protease 23 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
JBrowse link
G TSPAN12 tetraspanin 12 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        Norrie disease 5
Path 2
Term Annotations click to browse term
  disease 40721
    disease of anatomical entity 32019
      nervous system disease 25893
        central nervous system disease 23130
          brain disease 21572
            epilepsy 3645
              electroclinical syndrome 1758
                infancy electroclinical syndrome 139
                  West syndrome 41
                    Norrie disease 5
paths to the root