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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 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748
JBrowse link
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: POLR3-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956 NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,590,851...13,926,604
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:25741868 PMID:27029625 NCBI chr14:80,473,867...80,480,818 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12693
    Stomatognathic Diseases 887
      tooth disease 264
        anodontia 36
          hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      nervous system disease 9973
        central nervous system disease 8428
          brain disease 7783
            Metabolic Brain Diseases 554
              Metabolic Brain Diseases, Inborn 490
                Hereditary Central Nervous System Demyelinating Diseases 43
                  hypomyelinating leukodystrophy 26
                    hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
paths to the root