ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 3
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Accession:DOID:0060790 term browser browse the term
Definition:A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.
Synonyms:exact_synonym: HLD3;   Pelizaeus-Merzbacher-like Disease, Autosomal Recessive, 2;   Pelizaeus-Merzbacher-like disease due to AIMP1 mutation;   Perinatal Sudanophilic leukodystrophy
 primary_id: MESH:C536319
 alt_id: OMIM:260600;   RDO:0001854
 xref: ORDO:280293
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hypomyelinating leukodystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 JBrowse link 2 237,727,782 237,751,327 RGD:7240710
RGD:8554872

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Path 1
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                hypomyelinating leukodystrophy 3 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 27
                    hypomyelinating leukodystrophy 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.