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ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 12
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Accession:DOID:0060796 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination. (OMIM)
Synonyms:exact_synonym: HLD12;   neuroaxonal dystrophy, VPS11-related
 primary_id: OMIM:616683
 alt_id: OMIA:002152;   RDO:9000396
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hypomyelinating leukodystrophy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps11 VPS11 core subunit of CORVET and HOPS complexes JBrowse link 8 48,677,492 48,692,295 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal recessive disease 2338
                hypomyelinating leukodystrophy 12 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            Metabolic Brain Diseases 571
              Metabolic Brain Diseases, Inborn 501
                Hereditary Central Nervous System Demyelinating Diseases 41
                  hypomyelinating leukodystrophy 25
                    hypomyelinating leukodystrophy 12 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.