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


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Norrie disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISS
ISO
OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO
ClinVar
PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by OMIM:310600
ClinVar Annotator: match by term: Norrie Disease
OMIM
ClinVar
PMID:1303264 PMID:1307245 PMID:7814011 PMID:8069314 PMID:8240113 PMID:8268931 PMID:8790105 PMID:8990009 PMID:9143918 PMID:9382152 PMID:10484772 PMID:15776010 PMID:17334993 PMID:22563645 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        Norrie disease 4
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            epilepsy 1505
              electroclinical syndrome 392
                infancy electroclinical syndrome 36
                  West syndrome 32
                    Norrie disease 4
paths to the root