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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM NCBI chrNW_004955431:7,860,706...7,872,972 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    Developmental Diseases 8482
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7458
        genetic disease 7033
          monogenic disease 5209
            autosomal genetic disease 4496
              autosomal recessive disease 2485
                hypomyelinating leukodystrophy 14 1
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7911
          brain disease 7304
            Metabolic Brain Diseases 520
              Metabolic Brain Diseases, Inborn 456
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    hypomyelinating leukodystrophy 14 1
paths to the root