Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 xref: ORDO:137639;   ORDO:447893;   ORDO:447896;   ORDO:77295
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar Annotator: match by OMIM:607694
OMIM
ClinVar
PMID:614258, PMID:12605447, PMID:17159124, PMID:20640464, PMID:21855841, PMID:22036171, PMID:25339210, PMID:25741868, PMID:26096995, PMID:26752647, PMID:27029625, PMID:27521716, PMID:27535217, PMID:28459997, PMID:28492532, PMID:30414627, PMID:30847471, PMID:31637490, PMID:32214227 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
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:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
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 chr16:757,390...762,091
Ensembl chr16:757,403...762,075
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Stomatognathic Diseases 976
      tooth disease 279
        anodontia 40
          hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            Metabolic Brain Diseases 574
              Metabolic Brain Diseases, Inborn 503
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.