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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:An autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy. (OMIM)
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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 14 ClinVar
OMIM
PMID:25741868, PMID:28931644, PMID:29868776, PMID:30311386 NCBI chr 2:143,096,268...143,104,412
Ensembl chr 2:143,096,271...143,104,412
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                hypomyelinating leukodystrophy 14 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    hypomyelinating leukodystrophy 14 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.