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ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 10
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Accession:DOID:0060788 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging. (OMIM)
Synonyms:exact_synonym: HLD10
 primary_id: OMIM:616420
 alt_id: RDO:9001630
For additional species annotation, visit the Alliance of Genome Resources.


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hypomyelinating leukodystrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr2 pyrroline-5-carboxylate reductase 2 JBrowse link 13 99,184,624 99,188,418 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal recessive disease 2342
                hypomyelinating leukodystrophy 10 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        central nervous system disease 8856
          brain disease 8144
            Metabolic Brain Diseases 569
              Metabolic Brain Diseases, Inborn 499
                Hereditary Central Nervous System Demyelinating Diseases 39
                  hypomyelinating leukodystrophy 23
                    hypomyelinating leukodystrophy 10 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.