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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

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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 chrNW_004955489:138,600...143,112
Ensembl chrNW_004955489:138,600...143,112 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal recessive disease 6141
                hypomyelinating leukodystrophy 10 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            Metabolic Brain Diseases 1359
              Metabolic Brain Diseases, Inborn 1240
                Hereditary Central Nervous System Demyelinating Diseases 112
                  hypomyelinating leukodystrophy 59
                    hypomyelinating leukodystrophy 10 1
paths to the root