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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
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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 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            cataract 188
              hypomyelinating leukodystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                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.