ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 14
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Accession:DOID:0080296 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy. (OMIM)
Synonyms:exact_synonym: HLD14
 primary_id: OMIM:617899
 alt_id: DOID:9009148
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hypomyelinating leukodystrophy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufm1 ubiquitin-fold modifier 1 JBrowse link 2 143,096,268 143,104,412 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                hypomyelinating leukodystrophy 14 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 27
                    hypomyelinating leukodystrophy 14 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.