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ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 13
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Accession:DOID:0060795 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. (OMIM)
Synonyms:exact_synonym: HLD13
 primary_id: OMIM:616881
 alt_id: RDO:9001170
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hypomyelinating leukodystrophy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hikeshi heat shock protein nuclear import factor JBrowse link 1 154,147,098 154,170,429 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal recessive disease 2155
                hypomyelinating leukodystrophy 13 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                Hereditary Central Nervous System Demyelinating Diseases 39
                  hypomyelinating leukodystrophy 23
                    hypomyelinating leukodystrophy 13 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.