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ONTOLOGY REPORT - ANNOTATIONS


Term:Hypomyelinating Leukodystrophy 17
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Accession:DOID:9009183 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD) with brain imaging showing multiple abnormalities. (OMIM)
Synonyms:exact_synonym: HLD17;   hypomyelinating leukodystrophy-17
 primary_id: OMIM:618006
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Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 JBrowse link 12 12,738,784 12,748,345 RGD:8554872
RGD:7240710

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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
          Nervous System Heredodegenerative Disorders 1728
            Hereditary Central Nervous System Demyelinating Diseases 39
              hypomyelinating leukodystrophy 23
                Hypomyelinating Leukodystrophy 17 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 17 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.