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ONTOLOGY REPORT - ANNOTATIONS


Term:Hypomyelinating Leukodystrophy 16
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Accession:DOID:9009170 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. (OMIM)
Synonyms:exact_synonym: HLD16;   hypomyelinating leukodystrophy-16
 primary_id: OMIM:617964
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Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem106b transmembrane protein 106B JBrowse link 4 39,517,679 39,534,491 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
          Nervous System Heredodegenerative Disorders 1728
            Hereditary Central Nervous System Demyelinating Diseases 39
              hypomyelinating leukodystrophy 23
                Hypomyelinating Leukodystrophy 16 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 16 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.