Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:agenesis of the corpus callosum with peripheral neuropathy
go back to main search page
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;   polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
 primary_id: MESH:C536446
 alt_id: DOID:0060600;   OMIM:218000;   RDO:0002040;   RDO:9002736
 xref: ORDO:1496
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
agenesis of the corpus callosum with peripheral neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emc4 ER membrane protein complex subunit 4 JBrowse link 3 103,852,139 103,857,172 RGD:8554872
G Nop10 NOP10 ribonucleoprotein JBrowse link 3 103,747,654 103,748,739 RGD:8554872
G Slc12a6 solute carrier family 12, member 6 JBrowse link 3 103,752,213 103,852,686 RGD:1580594
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          agenesis of the corpus callosum with peripheral neuropathy 3
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                agenesis of the corpus callosum with peripheral neuropathy 3
paths to the root

NHLBI Logo

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