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ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 11
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Accession:DOID:0060792 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. (OMIM)
Synonyms:exact_synonym: HLD11
 broad_synonym: POLR1C-related disorder;   POLR1C-related disorders
 primary_id: OMIM:616494
 alt_id: RDO:9001631
For additional species annotation, visit the Alliance of Genome Resources.


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hypomyelinating leukodystrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal recessive disease 2339
                hypomyelinating leukodystrophy 11 1
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        central nervous system disease 8839
          brain disease 8128
            Metabolic Brain Diseases 571
              Metabolic Brain Diseases, Inborn 501
                Hereditary Central Nervous System Demyelinating Diseases 41
                  hypomyelinating leukodystrophy 25
                    hypomyelinating leukodystrophy 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.