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ONTOLOGY REPORT - ANNOTATIONS


Term:Hypomyelinating Leukodystrophy 15
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Accession:DOID:9009193 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder with onset of motor and cognitive impairment in the first or second decade of life, characterized by dystonia, ataxia, spasticity, and dysphagia. (OMIM)
Synonyms:exact_synonym: HLD15
 primary_id: OMIM:617951
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Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          Nervous System Heredodegenerative Disorders 1728
            Hereditary Central Nervous System Demyelinating Diseases 39
              hypomyelinating leukodystrophy 23
                Hypomyelinating Leukodystrophy 15 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                Hereditary Central Nervous System Demyelinating Diseases 39
                  hypomyelinating leukodystrophy 23
                    Hypomyelinating Leukodystrophy 15 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.