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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

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                hypomyelinating leukodystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            Metabolic Brain Diseases 471
              Metabolic Brain Diseases, Inborn 406
                Hereditary Central Nervous System Demyelinating Diseases 38
                  hypomyelinating leukodystrophy 22
                    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.