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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 the CLCN4 gene on chromosome Xp22.2. (DO)
Synonyms:exact_synonym: CLCN4-RELATED CONDITION;   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: MIM:300114
 xref: EFO:0009066



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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:19377476 More... NCBI chr  X:27,290,769...27,356,967
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 19141
    Developmental Disease 14667
      Neurodevelopmental Disorders 6969
        intellectual disability 4383
          X-Linked Intellectual Developmental Disorders 825
            syndromic X-linked intellectual disability 620
              Raynaud-Claes syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  intellectual disability 4383
                    X-Linked Intellectual Developmental Disorders 825
                      syndromic X-linked intellectual disability 620
                        Raynaud-Claes syndrome 1
paths to the root