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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: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


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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 syndrome | ClinVar Annotator: match by term: PEHO-like syndrome ClinVar PMID:25741868 PMID:26917597 PMID:28492532 NCBI chr 3:85,811,043...85,971,162
Ensembl chr 3:85,811,127...85,941,864 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More... NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar		 PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 NCBI chr12:38,013,931...38,027,928
Ensembl chr12:38,013,963...38,022,927 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      infancy electroclinical syndrome 113
        West syndrome 37
          PEHO syndrome 4
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            epilepsy 2736
              electroclinical syndrome 1317
                infancy electroclinical syndrome 113
                  West syndrome 37
                    PEHO syndrome 4
paths to the root