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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: 4H leukodystrophy 2;   ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME;   HLD8;   cerebellar hypoplasia with endosteal sclerosis;   hypomyelinating leukodystrophy 8
 narrow_synonym: hypomyelinating leukodystrophy 8 with hypodontia and hypogonadotropic hypogonadism
 primary_id: MESH:C535353
 alt_id: DOID:9003813;   OMIM:614381
 xref: NCI:C180850
For additional species annotation, visit the Alliance of Genome Resources.



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hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:25326637 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism OMIM
ClinVar
PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Neurodevelopmental Disorders 6147
        hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            movement disease 1738
              Dyskinesias 1393
                Ataxia 546
                  hereditary ataxia 404
                    cerebellar ataxia 281
                      hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2
paths to the root