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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 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 12 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 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.