ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
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Accession:DOID:0060794 term browser browse the term
Definition:A Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadismhypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
Synonyms:exact_synonym: 4H SYNDROME;   ADDH;   HLD7;   POL III-related leukodystrophy;   TACH syndrome;   ataxia, delayed dentition, and hypomyelination;   ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy;   dentoleukoencephalopathy;   hypomyelinating leukodystrophy 7;   hypomyelinating leukodystrophy 7, with hypodontia and hypogonadotropic hypogonadism;   hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism;   hypomyelinating leukoencephalopathy with ataxia and delayed dentition;   hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome;   leukodystrophy with oligodontia;   leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome;   tremor-ataxia-central hypomyelination syndrome
 primary_id: MESH:C567313
 alt_id: OMIM:607694;   RDO:0015421
 xref: ORDO:137639;   ORDO:447893;   ORDO:447896;   ORDO:77295
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hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:7240710
RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
RGD:11554173
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Stomatognathic Diseases 847
      tooth disease 224
        anodontia 28
          hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 8
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 27
                    hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.