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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:agenesis of the corpus callosum with peripheral neuropathy
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Accession:DOID:0090003 term browser browse the term
Definition:A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. (DO)
Synonyms:exact_synonym: ACCPN;   Agenesis of Corpus Callosum with Peripheral Neuropathy;   Agenesis of Corpus Callosum with Polyneuropathy;   Andermann syndrome;   Charlevoix disease;   Corpus Callosum Agenesis Neuronopathy;   Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum;   agenesis of corpus callosum with neuronopathy;   corpus callosum agenesis-neuronopathy syndrome;   hereditary motor and sensory neuropathy with agenesis of corpus callosum;   sensorimotor polyneuropathy with or without agenesis of the corpus callosum
 primary_id: MESH:C536446
 alt_id: DOID:0060600;   OMIM:218000
 xref: ORDO:1496



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agenesis of the corpus callosum with peripheral neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665
JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar NCBI chr 3:99,169,711...99,174,730
Ensembl chr 3:99,169,711...99,174,729
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO
ISS
DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy
CTD Direct Evidence: marker/mechanism
OMIM:218000
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:1660691 PMID:9536098 PMID:12368912 PMID:12838516 PMID:16199547 More... RGD:1580594 NCBI chr 3:99,071,577...99,170,266
Ensembl chr 3:99,071,391...99,170,258
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        neurodegenerative disease 4893
          agenesis of the corpus callosum with peripheral neuropathy 5
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                agenesis of the corpus callosum with peripheral neuropathy 5
paths to the root