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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:Raynaud-Claes syndrome
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Accession:DOID:0112060 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in CLCN4 on chromosome Xp22.2. (DO)
Synonyms:exact_synonym: CLCN4-RELATED DISORDER;   CLCN4-RELATED X-LINKED INTELLECTUAL DISABILITY SYNDROME;   MRX15;   MRX49;   MRXSRC;   mental retardation, X-linked 15;   mental retardation, X-linked 49;   mental retardation, X-linked 49/15
 primary_id: OMIM:300114
For additional species annotation, visit the Alliance of Genome Resources.



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Raynaud-Claes syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME OMIM
ClinVar
PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:23647072 More... NCBI chr  X:23,729,194...23,795,391
Ensembl chr  X:23,729,338...23,793,238
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Neurodevelopmental Disorders 6103
        intellectual disability 3878
          X-Linked Intellectual Developmental Disorders 750
            syndromic X-linked intellectual disability 614
              Raynaud-Claes syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    X-Linked Intellectual Developmental Disorders 750
                      syndromic X-linked intellectual disability 614
                        Raynaud-Claes syndrome 1
paths to the root