.
hypomyelinating leukodystrophy 12 - Ontology Report - Rat Genome Database

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 Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) 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)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease 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 Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes 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 Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 12
go back to main search page
Accession:DOID:0060796 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: HLD12;   neuroaxonal dystrophy, VPS11-related
 broad_synonym: VPS11-RELATED CONDITION
 primary_id: MIM:616683
 alt_id: OMIA:002152

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chrNW_004624784:14,452,811...14,464,965
Ensembl chrNW_004624784:14,452,817...14,464,965 		JBrowse link
G G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr 1:110,440,681...110,455,092
Ensembl chr 1:110,439,933...110,455,844 		JBrowse link
G P VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,739...46,297,474 		JBrowse link
G S Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chrNW_004936542:4,022,928...4,035,577
Ensembl chrNW_004936542:4,023,134...4,035,260 		JBrowse link
G D VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO
IAGP		 Neuroaxonal dystrophy, VPS11-related
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12		 OMIM
OMIA
ClinVar		 PMID:3410773 PMID:6698879 PMID:6842267 PMID:11699565 PMID:25741868 More... NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692 		JBrowse link
G B VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389 		JBrowse link
G C Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141 		JBrowse link
G R Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr 8:53,580,939...53,595,378
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
G M Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967 		JBrowse link
G H VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:28492532 PMID:32316234 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal recessive disease 73856
                hypomyelinating leukodystrophy 12 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            Metabolic Brain Diseases 15147
              Metabolic Brain Diseases, Inborn 13835
                Hereditary Central Nervous System Demyelinating Diseases 1289
                  hypomyelinating leukodystrophy 2056
                    hypomyelinating leukodystrophy 12 10
paths to the root