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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 10
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Accession:DOID:0060788 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: HLD10
 primary_id: OMIM:616420
For additional species annotation, visit the Alliance of Genome Resources.



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hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 OMIM
ClinVar
PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 PMID:28492532 NCBI chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                hypomyelinating leukodystrophy 10 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            Metabolic Brain Diseases 845
              Metabolic Brain Diseases, Inborn 745
                Hereditary Central Nervous System Demyelinating Diseases 74
                  hypomyelinating leukodystrophy 45
                    hypomyelinating leukodystrophy 10 1
paths to the root