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ONTOLOGY REPORT - ANNOTATIONS


Term:Norrie disease
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Accession:DOID:0060844 term browser browse the term
Definition:A X-linked recessive disease 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;   Atrophia bulborum hereditaria;   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;   Pseudoglioma Congenita;   Whitnall-Norman syndrome
 primary_id: MESH:C537849
 alt_id: OMIM:310600;   RDO:0003759
 xref: GARD:7224;   ORDO:649
For additional species annotation, visit the Alliance of Genome Resources.


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Norrie disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:13592920
G Ndp NDP, norrin cystine knot growth factor JBrowse link X 6,791,090 6,815,586 RGD:7240710
RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        Norrie disease 3
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            epilepsy 1015
              electroclinical syndrome 281
                infancy electroclinical syndrome 151
                  West syndrome 151
                    Norrie disease 3
paths to the root