ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
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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
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hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:7240710
RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872

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Path 1
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  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 8 with or without oligodontia and-or hypogonadotropic hypogonadism 3
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 8 with or without oligodontia and-or hypogonadotropic hypogonadism 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.