Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
go back to main search page
Accession:DOID:0060797 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. (DO)
Synonyms:exact_synonym: HLD8;   HYPOMYELINATING LEUKODYSTROPHY 8
 narrow_synonym: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM
 primary_id: OMIM:614381
 alt_id: RDO:9000668
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 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 8 with or without oligodontia and-or hypogonadotropic hypogonadism 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 8 with or without oligodontia and-or hypogonadotropic hypogonadism 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.