ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 13
go back to main search page
Accession:DOID:0060795 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. (OMIM)
Synonyms:exact_synonym: HLD13
 primary_id: OMIM:616881
 alt_id: RDO:9001170
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hikeshi Hikeshi, heat shock protein nuclear import factor JBrowse link 1 154,147,098 154,170,429 RGD:8554872
RGD:7240710

Term paths to the root
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 13 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 13 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.