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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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Stomatognathic Diseases 866
      tooth disease 239
        anodontia 37
          hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
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 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.