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Term:Jalili syndrome
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Accession:DOID:0111404 term browser browse the term
Definition:An autosomal recessive disease characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. (DO)
Synonyms:exact_synonym: Cone rod dystrophy-amelogenesis imperfecta syndrome;   Cone-Rod Dystrophy And Amelogenesis Imperfecta
 primary_id: MESH:C000596385
 alt_id: DOID:9003670;   OMIM:217800;   RDO:0016036
 xref: GARD:1463;   ORDO:1873
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Jalili syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst5 carbohydrate sulfotransferase 5 JBrowse link 19 44,115,065 44,136,092 RGD:7240710
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 9 43,049,587 43,088,690 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Jalili syndrome 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              retinal disease 715
                retinal degeneration 406
                  fundus dystrophy 263
                    retinitis pigmentosa 240
                      Jalili syndrome 2
paths to the root


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