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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 Rars1 arginyl-tRNA synthetase 1 JBrowse link 10 20,633,630 20,658,074 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                hypomyelinating leukodystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            Metabolic Brain Diseases 471
              Metabolic Brain Diseases, Inborn 406
                Hereditary Central Nervous System Demyelinating Diseases 38
                  hypomyelinating leukodystrophy 22
                    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.