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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Fam126a family with sequence similarity 126, member A JBrowse link 4 7,661,710 7,770,179 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16017
    sensory system disease 4971
      eye disease 2387
        lens disease 196
          cataract 189
            hypomyelinating leukodystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        central nervous system disease 8856
          brain disease 8144
            Metabolic Brain Diseases 569
              Metabolic Brain Diseases, Inborn 499
                Hereditary Central Nervous System Demyelinating Diseases 39
                  hypomyelinating leukodystrophy 23
                    hypomyelinating leukodystrophy 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.