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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 ClinVar Annotator: match by OMIM:610532
ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
OMIM
ClinVar
PMID:16951682 PMID:17928815 PMID:20301737 PMID:21911699 PMID:25741868 More... NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        lens disease 220
          cataract 213
            hypomyelinating leukodystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Metabolic Brain Diseases 611
              Metabolic Brain Diseases, Inborn 540
                Hereditary Central Nervous System Demyelinating Diseases 52
                  hypomyelinating leukodystrophy 35
                    hypomyelinating leukodystrophy 5 1
paths to the root