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RGD uses the Human Disease Ontology (DO, 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: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: OMIM:260565
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC88A coiled-coil domain containing 88A ISO ClinVar Annotator: match by term: Peho-like syndrome
ClinVar Annotator: match by term: PEHO-like syndrome
ClinVar PMID:25741868 PMID:26917597 PMID:28492532 NCBI chr2A:55,445,060...55,576,479
Ensembl chr2A:56,589,221...56,715,362
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25741868 PMID:26125038 More... NCBI chr2B:127,969,494...128,078,282
Ensembl chr2B:246,778,679...246,860,326
JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO OMIM NCBI chr17:20,583,614...20,595,332
Ensembl chr17:20,878,333...20,889,078
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13945
    disease of anatomical entity 13613
      nervous system disease 11212
        neurodegenerative disease 3302
          PEHO syndrome 4
Path 2
Term Annotations click to browse term
  disease 13945
    disease of anatomical entity 13613
      nervous system disease 11212
        central nervous system disease 9853
          brain disease 9266
            epilepsy 2126
              electroclinical syndrome 681
                infancy electroclinical syndrome 51
                  West syndrome 32
                    PEHO syndrome 4
paths to the root