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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 12
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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
 primary_id: OMIM:616683
 alt_id: OMIA:002152
For additional species annotation, visit the Alliance of Genome Resources.


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hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO OMIM NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,729...46,297,465
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    Developmental Diseases 8990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7862
        genetic disease 7411
          monogenic disease 5454
            autosomal genetic disease 4655
              autosomal recessive disease 2556
                hypomyelinating leukodystrophy 12 1
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        central nervous system disease 8428
          brain disease 7783
            Metabolic Brain Diseases 554
              Metabolic Brain Diseases, Inborn 490
                Hereditary Central Nervous System Demyelinating Diseases 43
                  hypomyelinating leukodystrophy 26
                    hypomyelinating leukodystrophy 12 1
paths to the root