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ONTOLOGY REPORT - ANNOTATIONS


Term:PEHO syndrome
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Accession:DOID:0080539 term browser browse the term
Definition:A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. (DO)
Synonyms:exact_synonym: PEHO;   PEHO-Like Syndrome;   infantile cerebellooptic atrophy;   progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy
 primary_id: MESH:C536317
 alt_id: DOID:9003922;   OMIM:260565;   RDO:0001850
 xref: GARD:4264;   ORDO:2836
For additional species annotation, visit the Alliance of Genome Resources.


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PEHO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc88a coiled coil domain containing 88A JBrowse link 14 113,771,093 113,936,376 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548849
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Znhit3 zinc finger, HIT-type containing 3 JBrowse link 10 72,227,710 72,235,932 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          PEHO syndrome 4
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            epilepsy 1080
              electroclinical syndrome 331
                infancy electroclinical syndrome 37
                  West syndrome 34
                    PEHO syndrome 4
paths to the root

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