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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 5
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Accession:DOID:0060793 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: HLD5;   hypomyelination and congenital cataract;   hypomyelination and congenital cataract: HCC;   hypomyelination-congenital cataract syndrome
 primary_id: MESH:C567166
 alt_id: OMIM:610532;   RDO:0015314
 xref: ICD10CM:G37.8;   ORDO:85163
For additional species annotation, visit the Alliance of Genome Resources.


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hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam126a family with sequence similarity 126 member A ISO OMIM NCBI chrNW_004955410:25,274,360...25,342,112
Ensembl chrNW_004955410:25,227,280...25,342,106
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    sensory system disease 4570
      eye disease 2398
        lens disease 157
          cataract 150
            hypomyelinating leukodystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7910
          brain disease 7304
            Metabolic Brain Diseases 520
              Metabolic Brain Diseases, Inborn 456
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    hypomyelinating leukodystrophy 5 1
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