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pontocerebellar hypoplasia type 8 - Ontology Report - Rat Genome Database

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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:pontocerebellar hypoplasia type 8
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Accession:DOID:0060277 term browser browse the term
Definition:A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. (DO)
Synonyms:exact_synonym: CHMP1A-RELATED CONDITION;   PCH8
 primary_id: MIM:614961
 xref: ORDO:324569

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pontocerebellar hypoplasia type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chrNW_004624746:302,344...309,117
Ensembl chrNW_004624746:302,404...309,644 		JBrowse link
G G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chr 5:74,990,706...75,002,074
Ensembl chr 5:74,990,410...75,001,988 		JBrowse link
G P CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chr 6:351,878...358,655
Ensembl chr 6:351,866...358,653 		JBrowse link
G S Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chrNW_004936641:366,563...376,303
Ensembl chrNW_004936641:366,569...376,337 		JBrowse link
G D CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chr 5:63,897,544...63,906,515
Ensembl chr 5:63,897,594...63,905,550 		JBrowse link
G B CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chr16:70,398,021...70,411,383
Ensembl chr16:90,003,892...90,017,653 		JBrowse link
G C Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chrNW_004955541:3,216,972...3,223,636
Ensembl chrNW_004955541:3,216,972...3,223,634 		JBrowse link
G R Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436 		JBrowse link
G M Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502 		JBrowse link
G H CHMP1A charged multivesicular body protein 1A IAGP ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8
ClinVar Annotator: match by term: CHMP1A-related condition
ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 		OMIM
ClinVar		 PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    disease of anatomical entity 276172
      nervous system disease 194347
        neurodegenerative disease 56171
          pontocerebellar hypoplasia 350
            pontocerebellar hypoplasia type 8 10
Path 2
Term Annotations click to browse term
  disease 292546
    disease of anatomical entity 276172
      nervous system disease 194347
        central nervous system disease 160199
          brain disease 150992
            cerebellar disease 11621
              pontocerebellar hypoplasia 350
                pontocerebellar hypoplasia type 8 10
paths to the root