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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 14
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Accession:DOID:0080296 term browser browse the term
Definition:A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. (DO)
Synonyms:exact_synonym: HLD14
 primary_id: OMIM:617899


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hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufm1 ubiquitin-fold modifier 1 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28931644 PMID:29868776 PMID:32860008 More... NCBI chr 2:137,969,476...137,977,620
Ensembl chr 2:137,966,678...137,978,089
Ensembl chr 2:137,966,678...137,978,089 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                hypomyelinating leukodystrophy 14 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            Metabolic Brain Diseases 1490
              Metabolic Brain Diseases, Inborn 1358
                Hereditary Central Nervous System Demyelinating Diseases 114
                  hypomyelinating leukodystrophy 62
                    hypomyelinating leukodystrophy 14 1
paths to the root