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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   POLR3-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
 xref: ICD10CM:G11.1;   ORDO:137639;   ORDO:447893;   ORDO:447896;   ORDO:77295
For additional species annotation, visit the Alliance of Genome Resources.



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hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by OMIM:607694
OMIM
ClinVar
PMID:614258 PMID:12605447 PMID:17159124 PMID:20640464 PMID:21855841 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Stomatognathic Diseases 1012
      tooth disease 300
        anodontia 41
          hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            Metabolic Brain Diseases 611
              Metabolic Brain Diseases, Inborn 540
                Hereditary Central Nervous System Demyelinating Diseases 52
                  hypomyelinating leukodystrophy 35
                    hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
paths to the root