ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 9
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Accession:DOID:0060791 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. (OMIM)
Synonyms:exact_synonym: HLD9;   RARS-related autosomal recessive hypomyelinating leukodystrophy
 primary_id: OMIM:616140
 alt_id: RDO:9001315
 xref: ORDO:438114
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hypomyelinating leukodystrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rars arginyl-tRNA synthetase JBrowse link 10 20,633,630 20,658,074 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                hypomyelinating leukodystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 27
                    hypomyelinating leukodystrophy 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.