Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
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: 4H leukodystrophy 2;   ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME;   HLD8;   cerebellar hypoplasia with endosteal sclerosis;   hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
 narrow_synonym: hypomyelinating leukodystrophy 8 with hypodontia and hypogonadotropic hypogonadism
 primary_id: MESH:C535353
 alt_id: DOID:9003813;   OMIM:614381
 xref: NCI:C180850


show annotations for term's descendants           Sort by:
hypomyelinating leukodystrophy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		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:9536098 PMID:17576681 PMID:18851904 PMID:22036171 PMID:22036172 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome ClinVar PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532 NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Neurodevelopmental Disorders 6773
        hypomyelinating leukodystrophy 8 3
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        central nervous system disease 12338
          brain disease 11567
            movement disease 2563
              Dyskinesias 2179
                Ataxia 941
                  hereditary ataxia 620
                    cerebellar ataxia 456
                      hypomyelinating leukodystrophy 8 3
paths to the root