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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:autosomal dominant mental retardation 56
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Accession:DOID:0080226 term browser browse the term
Definition:A syndromic intellectual disability characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: MRD56
 primary_id: OMIM:617854
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant mental retardation 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 ClinVar
OMIM
PMID:25741868 PMID:28135719 PMID:29100083 NCBI chr10:74,014,560...74,070,578
Ensembl chr10:74,014,562...74,070,266
JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 ClinVar PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:22243262 PMID:23355523 PMID:23625376 PMID:25741868 PMID:26124219 NCBI chr 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 ClinVar PMID:25741868 NCBI chr10:74,002,151...74,012,182
Ensembl chr10:74,002,151...74,012,159
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Neurodevelopmental Disorders 5664
        intellectual disability 3433
          syndromic intellectual disability 759
            autosomal dominant mental retardation 56 3
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              developmental disorder of mental health 4362
                specific developmental disorder 3621
                  intellectual disability 3433
                    syndromic intellectual disability 759
                      autosomal dominant mental retardation 56 3
paths to the root