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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 CASP10 caspase 10 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:16446975 PMID:22995991 PMID:25741868 PMID:28492532 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G FAM126A family with sequence similarity 126 member A ISO OMIM NCBI chr 9:91,729,044...91,821,629
Ensembl chr 9:91,729,054...91,821,619
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    sensory system disease 4801
      eye disease 2516
        lens disease 175
          cataract 168
            hypomyelinating leukodystrophy 5 2
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9972
        central nervous system disease 8426
          brain disease 7782
            Metabolic Brain Diseases 554
              Metabolic Brain Diseases, Inborn 490
                Hereditary Central Nervous System Demyelinating Diseases 43
                  hypomyelinating leukodystrophy 26
                    hypomyelinating leukodystrophy 5 2
paths to the root